AUTISM SPECTRUM DISORDER

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1 AUTISM SPECTRUM DISORDER Jassin M. Jouria, MD Dr. Jassin M. Jouria is a medical doctor, professor of academic medicine, and medical author. He graduated from Ross University School of Medicine and has completed his clinical clerkship training in various teaching hospitals throughout New York, including King s County Hospital Center and Brookdale Medical Center, among others. Dr. Jouria has passed all USMLE medical board exams, and has served as a test prep tutor and instructor for Kaplan. He has developed several medical courses and curricula for a variety of educational institutions. Dr. Jouria has also served on multiple levels in the academic field including faculty member and Department Chair. Dr. Jouria continues to serves as a Subject Matter Expert for several continuing education organizations covering multiple basic medical sciences. He has also developed several continuing medical education courses covering various topics in clinical medicine. Recently, Dr. Jouria has been contracted by the University of Miami/Jackson Memorial Hospital s Department of Surgery to develop an e-module training series for trauma patient management. Dr. Jouria is currently authoring an academic textbook on Human Anatomy & Physiology. ABSTRACT The U.S. Center for Disease Control estimates that 1 in 88 children are on the autism spectrum; meaning some degree of a complex brain disorder exists, characterized by difficulties in social interaction and communication, as well as a tendency toward repetitive behaviors. In its mildest form, autism spectrum disorder (ASD) can present minor communication challenges in children who are at or above normal intelligence. In its most severe form, comprehensive cognitive deficits and a total lack of communication create permanent dependence. Currently, there is no cure for ASD, and the focus is on research to develop effective management and prevention strategies. Nursece4less.com 1

2 Continuing Nursing Education Course Director & Planners William A. Cook, PhD, Director, Douglas Lawrence, MS, Webmaster, Susan DePasquale, CGRN, MSN, FPMHNP-BC, Lead Nurse Planner Accreditation Statement This activity has been planned and implemented in accordance with the policies of NurseCe4Less.com and the continuing nursing education requirements of the American Nurses Credentialing Center's Commission on Accreditation for registered nurses. Credit Designation This educational activity is credited for 12.5 hours. Nurses may only claim credit commensurate with the credit awarded for completion of this course activity. Course Author & Planner Disclosure Policy Statements It is the policy of NurseCe4Less.com to ensure objectivity, transparency, and best practice for all nursing educational activities. All authors and course planners participating in the planning or implementation of an educational activity are expected to disclose to course participants any relevant conflict of interest that may arise. Statement of Need Nurses often participate on an autism treatment team, involved in the diagnosis and ongoing health care of the individual child or adult with ASD as well as their families. Mental health and school nurses are required to perform an evidence-based evaluation and treatment plan to promote the best quality of life for the individual with ASD. Course Purpose This course will provide advanced learning for nurses interested in the diagnosis and treatment plan for the individual with autism, and for their families. Nursece4less.com 2

3 Learning Objectives Identify the disorders included within the ASD. Explain the historical etiology of autism. Identify domains that are evaluated when diagnosing ASD according to the DSM-5. Identify common characteristics of ASD. Describe the gradual onset course and the regression course of ASD. Explain the effects of early intervention in ASD patients. Describe risk factors that may influence the occurrence of ASD. Describe common neuroanatomical abnormalities that may occur in ASD patients. Define the two levels of initial diagnosis for ASD. List common psychological assessment tools for diagnosis ASD. List common co-morbidities of ASD. Explain the primary goals of ASD treatment. Explain the controversy relating to autism and vaccines. Target Audience Advanced Practice Registered Nurses, Registered Nurses, Licensed Practical Nurses, and Associates Course Author & Director Disclosures Jassin M. Jouria, MD, William S. Cook, PhD, Douglas Lawrence, MS, Susan DePasquale, CGRN, MSN, FPMHNP-BC all have no disclosures Acknowledgement of Commercial Support There is no commercial support for this course. Activity Review Information Reviewed by Susan DePasquale, CGRN, MSN, FPMHNP-BC. Release Date: 1/1/2015 Termination Date: 10/24/2016 Please take time to complete the self-assessment Knowledge Questions before reading the article. Opportunity to complete a self-assessment of knowledge learned will be provided at the end of the course. Nursece4less.com 3

4 1. The primary goals of ASD treatments are to: a. lessen deficits and family stresses b. treatment through use of medication c. educating family and other caregivers about unique challenges of an individual with ASD d. all of the above 2. True of False. ASD is understood to be the result of a combination of genetic and non-genetic factors. a. True b. False 3. Secondary ASD can be caused by: a. Fragile X syndrome b. Tuberculosis c. Rett Syndrome d. Answers a and c above 4. Rett syndrome predominantly affects: a. males b. females c. individuals during adolescence d. those of African descent 5. Repetitive behaviors in individuals with ASD can include: a. arm and hand flapping b. rocking or other unusual body movements c. head banging d. all of the above Nursece4less.com 4

5 6. True or False. Pregnancy and increased risk of ASD with a combined diagnosis of ADHD or ADHD symptoms includes use of valproic acid. a. True b. False 7. Individuals with ASD often have ADHD-like symptoms, which include: a. hyperactivity, distractibility, excitability, difficulty concentrating b. impulsivity, short term memory loss, aggression, tension c. distractibility, fatigue, poor concentration and insomnia d. poor performance in school, conflict with peers, hyperactivity 8. True or False. Treatment for children with both ASD and anxiety is evolving and more research is needed on how to adapt traditional approaches with cognitive behavioral therapy. a. True b. False 9. Individuals with ASD thrive best in very well organized and highly structured environments, which include those that: a. promote a clear understanding of schedules b. provide activities c. establish expectations d. all of the above 10. True or False. Treatment with SSRIs is uncommon for children with ASD. a. True b. False Nursece4less.com 5

6 INTRODUCTION Autism Spectrum Disorders (ASD) encompass a group of developmental disorders whose symptoms range on a continuum that runs from mild to severe in expression [1]. ASD is typically present early in life, anytime from infancy or early childhood; however, in the new DSM-V, there are changes in place for diagnostic age criteria in that deficits from ASD may not be detected until later on in life. This later detection may result from lower social demands placed on an individual as a result of assistance from parents or caregivers earlier on in life. The onset of ASD has been intensively studied [2-4], and it is largely accepted that the time of diagnosis may occur far after the time of onset. Additionally, the time between where parents indicate that the child shows early signs or symptoms of ASD or abnormal development and the time until diagnosis may be quite lengthy. It is important to note here that detecting early signs of ASD has been indicated to be quite difficult [5]. This is why ASD is sometimes only diagnosed once a child is put into situations that require social abilities, and a lack is seen in these situations. More than 500,000 people in the United States have some form of diagnosed autism [6]. Autism may keep a child from forming effective relationships with other people, due in part to an inability to properly interpret facial expressions or emotions. Children with autism spectrum disorders may be resistant to cuddling or change, and they may play alone or have delays in speech development. People with autism also frequently repeat body movements or have extreme attachments to certain objects. However, there are positive aspects to autism, such as the fact that many people with autism excel on certain mental levels, such as counting and measuring, or at art, music, or memory. The precise causes of ASD are not known. However, it is known that genetic factors play a role in ASD. It is also known that non-genetic, environmental factors play a role in the development of ASD. It is thought that ASD is the result of a combination of genetic and non-genetic factors. What basically happens is that non-genetic, environmental factors come into play to make those who are genetically susceptible to ASD more likely Nursece4less.com 6

7 to develop ASD. ASD may then develop gradually, or the individual may experience what is known as regression, where he or she may lose some or all of their acquired skills. The loss of skills can happen suddenly or gradually. Overall, there are a number of risk factors for ASD, including gender boys are more likely than are girls to develop ASD genetics, certain prenatal and perinatal factors, neuroanatomical abnormalities such as enlargement of the brain, and environmental factors. There is no cure for ASD. The primary goals of ASD treatments are to lessen deficits and to lessen family stresses. There are a number of ways to do these things, including applied behavioral therapy, structured teaching, speech and language therapy, social skills therapy, occupational therapy, and the use of medication. Additionally, educating parents, caregivers, and siblings and providing these individuals with ways to cope with the unique challenges that having an individual with ASD in the household brings helps in alleviating the inevitable resulting family stress. INCLUDED DISORDERS Autism The American Psychiatric Association has put forth a new definition for autism as a part of the revisions made for the new Diagnostic and Statistical Manual of Mental Disorders (DSM). Autism will be seen as part of a continuum of disorders termed autism spectrum disorder, involving a range of disorders, such as autistic disorder, Asperger s syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. Dr. James Scully of the APA has stated that the criteria will lead to more accurate diagnosis and will help physicians and therapists design better treatment interventions [8]. [7] Autistic disorder is also known as autism or mindblindness. This disorder generally presents sometime in the first three years of life, and the child appears to live within its own world. The child also appears to show little interest in other people and displays Nursece4less.com 7

8 poor social skills. The focus of a child with autistic disorder is on a consistent routine, with repetitive odd or peculiar behaviors. Children with autism frequently have problems communicating, and they often will avoid making eye contact with others or will avoid attaching to others. Autistic disorder may be associated with a number of infirmities, including difficulties with motor coordination and attention, intellectual disability, and physical health issues such as gastrointestinal issues or sleep issues. However, despite difficulties, some people with autistic disorder often excel in music, art, math, or with visual skills. Autistic disorder seems to have roots in the early development of the brain, although the most obvious signs and symptoms emerge between 2 3 years of age. Approximately 1 out of every 88 children in the United States will have an ASD; this has been a huge increase in prevalence over the past 40 years. The increase is due in part to improvements made in diagnostic tools as well as disease awareness. Another reason for the increase may be environmental influence. Autistic disorder is much more common in boys than it is in girls: approximately 1 out of every 54 boys and 1 out of every 252 girls is diagnosed with an ASD in the U.S., with ASD affecting over 2 million individuals in the U.S., and millions are affected worldwide. There is no one cause for ASD, although a genetic predisposition appears to play a role, as do environmental, or non-genetic, factors. Most cases of ASD appear to be the result of a combination of both genetic and non-genetic factors, with environmental stressors increasing the risk of development of ASD in children who already have a genetic predisposition. The clearest evidence of these types of risk factors includes events that happen before or during birth, such as maternal illness or birthing difficulties. Asperger Syndrome Asperger Syndrome is considered a sub-type of autism spectrum disorder. The cause of Asperger Syndrome is unknown, and presents 4 times more frequently in boys than it does in girls [9]. Nursece4less.com 8

9 Many consider Asperger syndrome to be the mildest form of autism; therefore, many with Asperger s are considered to be the highest functioning autistic individuals. However, even though many individuals with Asperger s may be high functioning, they still share certain key symptoms with others who suffer from autism spectrum disorders, such as a lack of normal social conversation, lack of normal eye contact, deficits in body language and facial expression, and difficulties in maintaining social relationships. Those with Asperger syndrome also frequently engage in repetitive behaviors and may become excessively attached to objects or routines. The prevalence of Asperger syndrome is not well known. It is not even well recognized prior to the age of 5 or 6, primarily because the individual has normal language development. Asperger syndrome occurs in all ethnic groups and affects every age group [10]. Additionally, it does not just affect the child during childhood; studies indicate that children who suffer from Asperger syndrome carry their problems with them into adulthood and some develop further psychiatric problems in adulthood. Some of the common signs or symptoms of those with Asperger syndrome are having monotone speech or lack of rhythm in speaking. Additionally, an individual with Asperger syndrome may have problems modulating the volume in his or her voice and may need to be continually reminded to talk more softly. Individuals with Asperger s are not generally isolated from the rest of the world as a result of their own withdrawal, but rather they are isolated because they have poor social skills or because their interests are narrow. For example, they may approach conversations by speaking only about their own very narrow interests, making a normal conversation difficult. Current research [10] indicates that brain abnormalities may be to blame, as some research has indicated that those children who have Asperger syndrome have differences in structure and function than do those children who are not affected. Researchers posit that these differences could be caused by an abnormal migration of embryonic cells that in turn affects brain structure in early childhood. This then goes on to affect the brain circuitry that affects thought and behavior. Scientists have also suspected that there is a strong genetic component to Asperger syndrome, although no Nursece4less.com 9

10 specific gene for Asperger syndrome has ever been identified. Recent research has indicated that Asperger syndrome is most likely the result of a grouping of genes in which variations or deletions cause the individual to become vulnerable to the development of Asperger syndrome. When combined with environmental factors, this also determines the severity and the specific symptoms that each individual suffers. Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) is sometimes simply called pervasive developmental disorder, or may be used interchangeably with autism spectrum disorder. There are some health professionals who refer to PDD-NOS as sub threshold autism. PDD-NOS is a relatively new diagnosis, having been around for only about 15 years. PDD-NOS is the diagnosis that has come to be commonly applied to those who are on the autism spectrum but do not generally meet the criteria for some other autism spectrum disorder in full, such as Asperger Syndrome. Defining features of PDD-NOS are challenges in language development and social functioning. Repetitive behaviors are frequently seen with PDD-NOS. Not all children with PDD-NOS have the same symptoms. Symptoms may sometimes be mild, where the individual exhibits only a few symptoms while at home or at school. Other individuals may exhibit severe symptoms in all areas of their lives but still may not qualify for a diagnosis of autistic disorder. The signs and symptoms of PDD-NOS are divided into several categories, as outlined below: Social Signs and Symptoms: Children with PDD-NOS have a desire to make and have friends, but they have no idea how to make that happen. If there are language delays this may hinder the ability to socialize with other people. There is frequently difficulty in understanding body language, tone of voice, and facial expression in others, as well as difficulty understanding emotions. Children with PDD-NOS often have trouble distinguishing between emotions such as sadness, happiness and anger. Nursece4less.com 10

11 Communication Signs and Symptoms: Those with PDD-NOS frequently have language or communication issues. Those with PDD-NOS may not babble as babies. They also frequently take language literally and do not have an understanding of things such as sarcasm or joking language. It is easier to expand language skills in those children who have some language skills than it is in those children who are entirely nonverbal. Behavioral Signs and Symptoms: Children with PDD-NOS may exhibit tantrums or emotional outbursts. These children may also have a great need for routine. Additionally, individuals with PDD-NOS can often misinterpret what is happening in a situation and in turn become easily frustrated. Tantrums are the result of fear and anxiety. Another common behavioral symptom is perseveration, which means the child will tend to dwell on certain events or subjects. Individuals with PDD-NOS may become fixated on one topic or play only with one toy that is associated with a particular area. Given the newness of this diagnosis, there has been some disagreement on how to apply a diagnosis of PDD-NOS. Recently, some studies [11] have suggested that PDD- NOS may best be utilized by placing individuals into one of three subgroupings of diagnosis, as explained below: High functioning PDD-NOS: This involves approximately 25% of those with PDD-NOS); and, these individuals generally have symptoms that overlap Asperger s, but they may differ slightly in that they have delays in language development or slight cognitive impairment. Mid-function PDD-NOS: This involves approximately 25% of those with PDD-NOS; and, these individuals generally have symptoms that resemble those with autistic disorder. Nursece4less.com 11

12 Low function PDD-NOS: This involves approximately 50% of those with PDD-NOS; and, these individuals meet all of the criteria for autistic disorder, however, some of their symptoms are noticeably mild. Another way to diagnose PDD-NOS may be by placing individuals into one of five subgroupings [12]: Atypical autism: this category is for young children who may not have developed a full-blown autistic disorder yet; these are individuals who almost, but not quite, meet the criteria for autistic disorder. Residual autism: this category is for individuals who have a history of having autistic disorder yet may not at present meet the criteria; they therefore still have some autistic features but as a result of interventions or development they do not meet the criteria for autistic disorder. Atypical Asperger syndrome: this category is for young children who may not have developed full-blown Asperger syndrome as well as for individuals who are almost, but not quite, to the point of meeting the full criteria for Asperger syndrome. Mixed clinical features of atypical Asperger syndrome: this category is for children with an atypical autistic disorder. Comorbid autism: this category is for children who have a medical or neurological disorder, such as tuberous sclerosis, that is associated with some ASD-like features. Those who have PDD-NOS respond best to combined therapies. Therapies that have been demonstrated to work well on PDD-NOS are applied behavioral analysis (ABA), sensory integration therapy, play therapy, and social skills training. It is important for the practitioner to pay attention to the child who may not be as easily diagnosed; the Yale Developmental Disabilities Clinic [13] indicates that children who have PDD-NOS may not get the treatment they need as easily as do those diagnosed with autistic disorder. Additionally, many education systems in the United States do not have a special education category for those individuals who have PDD-NOS, leaving these individuals Nursece4less.com 12

13 to be placed into programs designed for students with other problems, such as intellectual disabilities, emotional disturbances, or behavior disorders. This can lead to the individual getting lost in the crowd and not having their needs met. It is therefore essential that the practitioner work closely with parents and caregivers to ensure that the individual with PDD-NOS is getting his or her needs met in all areas. Childhood Disintegrative Disorder Childhood disintegrative disorder (CDD), also called Heller s syndrome, is a condition wherein children develop normally until approximately age 3 or 4. They then lose all of the skills they have learned. This includes motor, language, social, and other skills. To be diagnosed with CDD the child must lack or lose normal function in at least two developmental skills areas that include: social interaction, communication, and repetitive or stereotyped patterns of interest and behavior/activities. CDD may be caught at developmental screenings performed at well-child check-ups; these screenings should always be performed, although parents should also be encouraged to voice concerns about their child s development at other times as well. The cause of CDD is not known, but a link to the brain and nervous system has been made [14]. Symptoms of CDD include the following: a delay or lack of language, impaired nonverbal behavior, an inability to start or to maintain conversation, failure to play, loss of control of the bladder or bowels, loss of previously established language or communication skills, loss or motor or skills, and; problems forming relationships with others have been identified. The loss of skills may occur abruptly or it may occur over a period of time that is extended. Parents should express concerns to a practitioner when a child loses any developmental skill, whether it is gradual or sudden loss. Outcome for CDD is poor. Many children with CDD are as severely impaired as those with severe autistic disorder. Those with CDD almost always need support for the duration of their lifetime and may need residential care in facilities such as group homes or long-term care residential living. There is no cure for CDD, although there are some Nursece4less.com 13

14 treatments that may be used to lessen or relieve symptoms. These treatments include the following: Medication: While there are not any medications that treat this disorder directly, some medications may be used to treat the behaviors that result, such as anxiety or depression. Additionally, epilepsy is highly co-occurring with CDD, and anticonvulsant drugs may be utilized to control seizures. Behavior therapy: Behavior therapy programs are frequently utilized to help the individual with ASD learn language or to help minimize language loss, as well as social skills and self-care skills. Behavioral therapy programs use systems of reward and discipline to reinforce behavior that is desirable and to discourage behavior that is not desirable. It is important that the approach in behavior therapy is consistent among all practitioners, caregivers, and teachers. Rett Syndrome Rett Syndrome is a neurodevelopmental disease that is seen almost entirely in females, although it may sometimes rarely be seen in males. Rett Syndrome presents in infancy or early childhood, and is caused by a mutation in the MECP2 gene on the X chromosome [15]. Since boys have a different combination of chromosomes than do females, males who have the mutation that causes the syndrome are generally affected in ways that are devastating. Many die prior to birth or very early in infancy. Symptoms vary in type and severity. Generally the child may appear to be developing normally, up until about 6 months of age, and then symptoms begin to appear. This is also when the rate of growth of the head as well as progress of certain skills such as communication may start to slow. The most notable changes usually occur at around months and occur over weeks to months. There are a number of signs and symptoms that occur with Rett syndrome, including those listed below: Slowed growth: the brain slows in growth following birth. One of the first signs that a child has Rett syndrome is that the child has a smaller than usual head Nursece4less.com 14

15 size. Then, as the child ages, it becomes evident that there are delays in growth in other body parts as well. Loss of normal coordination and movement: the individual begins to lose a significant amount of motor skills. This generally begins between 12 to 18 months of age and includes a decreased ability to control the hands as well as a decreased ability to crawl and walk in a normal way. This occurs rapidly at first and then continues in a more gradual manner. Loss of communication and the ability to think: individuals who have Rett syndrome will lose their ability to communicate as well as to speak. They may also become uninterested in toys, in people, and in their surroundings. The change may be rapid in some children; for example, some children may experience a sudden loss of their speech skills. Most children regain skills such as eye contact over time as well as develop skills such as nonverbal communication. Abnormal hand movements: children who have Rett syndrome have stereotyped hand patterns individual to each child; these may include wringing, clapping, rubbing, squeezing, or tapping. Unusual eye movements: those with Rett syndrome may have eye movements that are unusual, such as blinking, staring intensely, or closing one eye. Breathing problems: individuals with Rett syndrome may have breathing problems that include apnea, forceful exhalation of air (or saliva), or rapid breathing that is abnormal. These types of problems are likely to occur during waking hours but not during sleep hours. Irritability: Rett syndrome may cause individuals to become more and more irritable and agitated as they age, having spells of screaming that can begin suddenly and last for hours. Abnormal behaviors: abnormal behaviors may include sudden and odd facial expressions or extended bouts of screaming or laughter that occurs for no reason. Abnormal behaviors also include such behaviors as hand licking or grasping clothing or hair. Nursece4less.com 15

16 Seizures: many who have Rett syndrome also experience seizures at some point in their lifetime. The symptoms of these seizures vary, but they can range from having a periodic muscle spasm to being struck with full-blown epilepsy. Abnormal spinal curvature: this is also known as scoliosis. Scoliosis commonly co-occurs with Rett syndrome, and generally begins at around 8 11 years of age. Irregular heartbeat, or dysrhythmia: many individuals with Rett syndrome experience this life-threatening issue. Constipation: constipation is a common issue for those who suffer from Rett syndrome. Rett syndrome is generally divided into 4 stages: Stage I: In this stage the signs and symptoms of the disease may be easily overlooked, as this stage begins between 6 18 months of age. Children who are in this stage may begin to show less eye contact or begin to lose interest in their toys. There may also be delays in sitting up or in crawling. Stage II: Stage II occurs between 1 4 years of age. In this stage the child begins to lose his or her speaking ability as well as the ability to use his or her hands. Additionally, repetitive and purposeless hand motions begin. Some children also start to hyperventilate or hold their breath as well as cry or scream for no reason. It is also frequently difficult for the child to move on his or her own. Stage III: Stage III is considered a plateau that starts between 2 10 years of age. This stage may last for years. Even though issues with movement may continue, behavior can improve. Children in this stage frequently cry less often, and become less irritable. Stage IV: This last stage shows extremely reduced mobility as well as muscle weakness and scoliosis. Communication skills, understanding, and hand skills usually won t decline any further in this stage. Nursece4less.com 16

17 Most people who suffer from Rett Syndrome require daily assistance with everyday tasks. They can usually live moderately long lives, extending to 50 years of age or longer. EARLY ETIOLOGY The precise causes of ASD are not known. However, many think that it is a complex combination of genetic and environmental components that cause ASD symptoms. ASD causes may be described in two ways: [16] Primary ASD, which is also known as idiopathic ASD. This means that there is no underlying medical condition, which can explain why there are symptoms of ASD. Ninety percent of all ASD cases are primary ASD. Secondary ASD, which means that there is an underlying medical condition that is thought to be responsible or at the very least, partially responsible for the ASD symptoms. Ten percent of all ASD cases are secondary ASD. Primary ASD Researchers have examined four possible causes to primary ASD. These causes are outlined below: Genetic causes: There are certain genetic mutations, which may lead to a child being more likely to develop ASD. ASD has been known to run in families, and there is 5 6% likelihood that younger children born into families with an older child with ASD will also themselves have ASD. Identical twins are also at risk for developing ASD. For example, if one twin develops ASD, there is 60% likelihood that the other will develop ASD as well. However, it is important to note that there are currently no specific genes that have been linked to the development of ASD, and there is no way to currently test for the genetic predisposition toward ASD. Nursece4less.com 17

18 Environmental causes: A child may be exposed to certain environmental factors during the mother s pregnancy that may lead to the development of ASD. Some researchers think that ASD is caused more by environment than by genetics, and that certain people may be born with a predisposition toward ASD that is only triggered if exposed to certain environmental stimuli. Some of the suggested environmental stimuli include: a mother who had a viral or bacterial infection while pregnant; a mother who smoked while pregnant; an older father; air pollution; and, pesticide exposure. There is evidence to support some of these environmental factors. For example, women who were exposed to the rubella infection while they were pregnant have a 7% risk of giving birth to a child who develops an ASD. Additionally, women who smoked while pregnant were 40% more likely to have a child who developed an ASD. Also, fathers over 40 years of age were 6 times more likely to have a child who developed an ASD. Researchers posit that this may be the case because a father s genetic material becomes more vulnerable to mutation as he ages. There is less evidence to support the idea that air pollution or pesticide exposure causes the development of ASD; however, studies are currently examining this idea under the CHARGE study [16]. Psychological causes: A child may have thought processes that contribute to the expression of symptoms of ASD. A great deal of the research behind the psychological factors that may contribute to ASD is rooted in a psychological concept called theory of mind (TOM) [16]. TOM is an individual s ability to understand others emotional states; and, at its core involves seeing the world through the eyes of the other person. The majority of children who do not have ASD possess a full understanding of TOM by the time they are approximately 4 years of age. Children who have ASD possess a limited or no understanding of TOM. This may be one of the causes of the social problems that children with ASD experience. Nursece4less.com 18

19 Neurological causes: There are certain problems with how the brain and nervous system develops that may contribute to ASD symptoms. A great deal of the research into neurological causes has focused on the amygdala, which is the section of the brain that matches emotions to the situation the individual is placed in. The amygdala selects emotional responses from the limbic system and relays them to the cerebral cortex. Brain studies that have been conducted on people with ASD indicate that the connections between these systems are not fully functional. The result is that people with ASD can suddenly experience extreme emotional reactions even to trivial objects or events. This may explain why people who have ASD favor routines, since routines and patterns tend not to promote extreme responses. An additional area of research has been focused on mirror neurons, which enable an individual to mirror another individual s actions. For example, a mirror neuron is what allows a baby to smile in reaction to a mother s smile. Mirror neurons create more elaborate pathways in the brain that may contribute to higher brain functions such as language, learning from others, and the ability to recognize emotional states in others as an individual grows older. Studies of children with ASD have discovered that mirror neurons in ASD individuals do not respond in the ways they do those without ASD. Difficulties with mirror neurons may contribute to the problems that some individuals with ASD experience with learning and social interaction. Secondary ASD Sometimes another medical condition may be the cause of ASD. Some of these conditions that can cause symptoms of ASD are listed below: Fragile X syndrome: This is an uncommon condition that occurs more frequently in boys than it does in girls. It occurs in about 1 in every 3600 boys, and in about 1 in every 6000 girls [16], and presents with certain distinct characteristics such as a long face, larger ears, and flexible joints. Nursece4less.com 19

20 Tuberous sclerosis: This is a rare condition that results in multiple tumors to grow throughout the body. The tumors are not cancerous. This condition occurs in approximately 1 in every 6000 children. Rett syndrome: This condition, also discussed above, is included here as a rare secondary ASD and almost always occurs in girls. It causes extreme difficulty with physical movement, and the individual suffering from Rett syndrome nearly always requires full assistance with daily tasks. Approximately 1 in every 20,000 girls has Rett syndrome. RECENT CHANGES TO THE DSM-V There have been several refinements made to the diagnostic criteria found in the Diagnostic and Statistical Manual (DSM), with suggestions based on limitations found in previous diagnostic criteria [1]. The fourth edition of the DSM (DSM-IV) contained a large number of diagnoses [17], including a large number of not otherwise specified (NOS) diagnoses. Additionally, practice has changed in recent years to include the consideration of the contribution of various comorbidities. Autism Spectrum Disorders in the DSM-V ASD in the DSM-V is an umbrella term that will include such disorders as pervasive developmental disorders, autistic disorder, Asperger syndrome, childhood disintegrative disorder, and not otherwise specified disorders. ASD s will consist of these groups of developmental disorders that are seen on a continuum that ranges from mild to severe and present in infancy or early childhood. However, in the new DSM-V, the age criteria for diagnosis will be different; it will not be specified that diagnosis must occur during childhood and that diagnosis may occur later on in life. Because caregivers might compensate for a child s lack of social intelligence, in school and other social interactions, a diagnosis of ASD might not be made until later in the child s life. Nursece4less.com 20

21 Onset of ASD has been extensively studied [2-4], and it is accepted by the majority of practitioners that diagnosis may occur much later than the time the disorder begins presenting itself. Additionally, parents and caregivers do not always acknowledge symptoms immediately as signs of a problem, and the time at which they acknowledge symptoms is important as well. It is not always easy to detect specific signs and symptoms of ASD, particularly the early ones [5]. This aspect of ASD is, in particular, important to the changes in the new DSM-V because onset of symptoms prior to age 3 has been removed. The deletion of the age criteria in the diagnosis of ASD in general highlights the fact that some individuals are diagnosed later in life, as adolescents or adults. It has been suggested that the presence of language delays not be utilized as criteria for applying a diagnosis of autistic disorder. This is because it has been well established that a language delay is not a symptom that is specific to ASD. Further, children who suffer from ASD may develop fluency of speech as they grow even if they suffered from language delay as a younger child. However, it is important to note that the development of language is crucial where it regards outcome because a severe language delay in early childhood seems to predict poor outcome [18]. Considerations regarding specific disorders in the DSM-V are outlined below: Asperger disorder: A highly debated change to the revision of the DSM-V is the suggestion to remove Asperger syndrome. However, the suggestion to remove Asperger syndrome is based on study evidence that indicates that there is no clear difference between Asperger s and autistic disorder where outcome is concerned [1]. Disintegrative disorder: While the validity of disintegrative disorder has been debated recently, the debate focuses on the problems that stem from precisely defining developmental regressions as well as pinpointing the time of onset of the regression. Additionally, there is the problem of defining whether developmental delays were present prior to regression. Nursece4less.com 21

22 Further, consideration has been given to whether symptoms or changes present gradually or suddenly. Due to these ambiguities, the DSM-V therefore suggests removal of the category of childhood disintegrative disorders. A goal of this new criterion is to stabilize validity of diagnostic criteria across types of ASD. Earlier studies have indicated that various types of ASD are not easily distinguishable from one another [19, 20], which was supported by a recent review [21], which concluded that criteria for various types of ASD indeed overlap. One study [22] indicated that this led to differing definitions between such disorders as autistic disorder and Asperger syndrome between assessment sites, which compromised diagnostic validity. The conclusion was that distinctions between various types of ASD s are often dependent upon the severity of symptoms such as the presence of a learning disability or language skills. Utilizing an umbrella term such as autistic spectrum disorders helps place symptoms on a continuum and provides one clear, concise defining term, therefore preserving diagnostic validity. The major goal of changes to the diagnostic criteria in the new DSM-V is to make criteria for ASD s more clear as well as increase validity of diagnosis. CHARACTERISTICS OF ASD Social deficits Infants and children with ASD are different from typical infants when it comes to social development [24]. Typically developing infants are very social. They gaze toward faces, turn toward speaking voices, grasp fingers extended towards them, and smile by the time they are 2 3 months old. Conversely, children who develop ASD have difficulty with [23] Nursece4less.com 22

23 social interactions with other human beings. By 8 10 months of age, infants who go on to develop ASD are generally showing some symptoms such as the failure to respond to their names, a reduced interest in other people, and a delay in babbling. By the time they are toddlers, many of these children have difficulties playing socially with other children. Additionally, they don t imitate others and they often prefer to play on their own instead of with other children. They may not seek comfort from parents or caregivers as well as show a failure to respond to anger or affection in ways that are typical. Research has indicated that children with ASD are attached to caregivers. However, the way this attachment is expressed is often unusual, and caregivers frequently interpret the child s expressions as disconnected or emotionless. It is important to remember that both children and adults who suffer from ASD have difficulty determining what others are thinking or feeling. Where children who develop normally learn to accurately interpret such social cues as smiling, waving or grimacing, these social cues hold little meaning for the individual who suffers from autism. Individuals with ASD also have difficulty seeing things from another person s perspective, meaning that they have little empathy. While most normally developing five year olds have learned to see things from another person s perspective, the person suffering from ASD has not learned this skill, leading to poor understanding. This may interfere with an ability to predict or understand actions as well as lead to an inability to understand why another person is feeling the way they are feeling. Finally, it is common for individuals who suffer ASD to have difficulty regulating their emotions. They may come across as emotionally immature, having crying outbursts or displaying emotions that are inappropriate for the situation. They may also be disruptive or physically aggressive. These expressions may be particularly pronounced if the individual with ASD is feeling overwhelmed or frustrated, and can lead to self-injurious behaviors such as biting or head banging. Nursece4less.com 23

24 Communication difficulties Infants and children with ASD are different from typical children when it comes to communication [24]. The majority of children pass predictable milestones to learning language by 3 years of age. The earliest of these is babbling; and, by the age of 1, most typically developing children will say a few words, acknowledge their names, and point to or display objects they want. Additionally, children of this age have the ability to communicate clearly either through sounds or expression when they do not want something that is given to them. Conversely, children suffering from ASD generally experience delayed babbling and speaking and may also experience delays in learning how to utilize gestures to indicate their preferences. Some individuals who develop ASD may possess these abilities early on and then lose them. Others experience delays and then gain language ability later on in life. With therapy, many with ASD do learn how to use spoken language and all with ASD can learn how to communicate in some way, either verbally or nonverbally. Those who communicate nonverbally or nearly nonverbally learn to use systems such as pictures, sign language, word processors, or devices such as speech-generators. When language does begin to develop, an individual with ASD may utilize speech in ways that are unusual. For example, some individuals have difficulty forming complete or meaningful sentences. They may speak single words or phrases or repeat the same word or phrase over and over again. Others may experience a stage where they repeat everything they hear word for word, a condition called echolalia. There are others who have difficulty sustaining conversation despite developing large vocabularies. Still others carry on long monologues on favorite subjects, giving those listening little opportunity to respond and having little understanding of the give and take of social conversation. Another common communication difficulty is the inability to interpret body language and tone of voice. For example, sarcasm is particularly difficult for those with ASD to interpret. An individual who has developed normally may accurately interpret the sarcasm in a comment such as Oh, that s just great! whereas the individual with ASD Nursece4less.com 24

25 would miss it and interpret the comment as referencing something that actually is just great. The individual with ASD may also not exhibit typical body language himself or herself. For instance, their body language may not match what they are saying. Tone of voice may not reflect the emotion and individual with ASD is trying to convey. Some individuals suffering from ASD utilize flat or robotic sounding voices. These displays make it difficult for others to understand what individuals with ASD need or want. This failure in communication can in turn lead to frustration and inappropriate displays made by the person suffering ASD, such as screaming or grabbing. Stereotyped or repetitive behaviors and interests Infants and children with ASD are different from typical children when it comes to behaviors and interests [24]. Individuals who develop ASD generally engage in repetitive behaviors as well as have a tendency to engage in a range of activity that is tightly restricted. Common repetitive behavior includes hand flapping, jumping, rocking, twirling, arranging or rearranging objects, and the repetition of sounds, words, or sentences. Occasionally the repetition involves behaviors such as wiggling the hands or fingers. Restrictive activities can be clearly seen in the ways children with ASD play with their toys. Instead of actually playing with their toys, these children will often spend hours lining the toys up in a specific order. In adults this is seen in the way the individual is preoccupied with having certain objects lined up in a certain order. Repetitive behavior may be intensely obsessive and very unusual. It can take any form, including unusual content or knowledge. This is why some individuals with ASD develop extreme interest and knowledge of numbers or scientific topics. Individuals with restrictive activities can become extremely upset if someone or something disrupts the order of their things. This shows how essential consistency is for many individuals with ASD. Even the slightest changes in environment or routine can prove very stressful for individuals suffering from ASD and may lead to outbursts. Nursece4less.com 25

26 Individuals with ASD may have many different obsessions or behaviors, however there are some that are particularly common among those with ASD. Activities where these behaviors become notable include: identifying historical dates and events, computers, certain television programs, trains, and science. Children with ASD in particular like playing with toys such as Thomas the Train and dinosaurs. Older individuals with ASD may develop repetitive obsessive interests with things like car registration numbers, traffic lights, shapes, or body parts. Individuals with ASD are also frequently quite interested in collecting objects; this may be collecting something that seems quite common, such as a certain toy, or something that seems uncommon, such as leaves. What marks the behavior as unusual is the duration and intensity that the person with ASD shows. People with ASD will frequently learn a great deal about the thing they are obsessed with, be intensely interested in it for an extended period of time, and feel very strongly about the object or objects in question. There are a number of reasons that people with ASD develop obsessions, including the fact that obsessions help provide structure and order, obsessions offer a way to start conversations when social interactions prove difficult, obsessions help the individual relax or feel happy, and obsessions offer enjoyment and the opportunity to learn. Repetitive behaviors can include arm and hand flapping, finger flicking, rocking, jumping, twirling, spinning, head banging, and more complex body movements. Repetitive movements also include the repetitive usage of an object, such as the repetitive flick of a rubber band or repetitively stroking a piece of fabric. Many individuals with ASD have what is called sensory sensitivity; this means that they are over or under sensitive to sights, smells, touch, sounds, and tastes. Their balance and body awareness may also be affected by this sensitivity, and the repetitive behavior is a way to deal with the sensitivity. There are a number of reasons that people with ASD utilize repetitive behavior, including attempts to obtain or reduce sensory input, finding ways to deal with anxiety or stress, or as a way to obtain enjoyment or to occupy one self. Routines and sameness are also important for the individual with ASD. Routines are important because they bring order and predictability to the individual s life and help to Nursece4less.com 26

27 manage anxiety. Repetitive behaviors and obsessions offer routine and order to the individual who suffers from ASD. However, the need for repetition and routine and order may extend beyond repetitive behaviors. Some individuals with ASD may have issues with changes such as those to their physical environment. For instance, if a chair is moved in a room or a new person enters the room, this could be difficult for some individuals with ASD to handle. Some individuals with ASD may also have very rigid preferences when it comes to things such as food. For example, they may only eat food that is a certain color or begins with a certain letter of the alphabet. This may extend to other areas of life, such as clothing (for example, only wearing clothing made of certain fabrics) or even to everything objects (for example, only utilizing certain brands of soap of toilet paper). Some individuals with ASD may also develop a need to have a routine around daily activities such as bedtime or meals. These routines may become nearly ritualistic. Verbal rituals in addition to physically repetitive behaviors may also be seen in the individual with ASD; and, they may repeat the same question over and over again or need to hear a specific answer repeatedly. There may also be compulsive behavior in addition to obsessive behavior that is developed. This means that the individual may do things like wash their hands or check locks constantly. This behavior is not the same as having obsessive-compulsive disorder (OCD), although it strongly mirrors it. Cognitive delays Children with ASD are different from typical children when it comes to cognitive development [25]. While cognitive abilities vary, a great many children who have ASD also have some level of mental retardation. About 75% of people who have ASD have a non-verbal IQ that is below 70, although ASD may also occur in individuals who are of normal or high intelligence. There are some children with ASD who also have a high level of giftedness in a certain area, such as art, music, or math. However, this category or individuals typically referred to as savants is typically very small and is estimated to comprise less than 1% of ASD children [25]. If a child with ASD has abilities such as these they usually manifest by the age of 10. Nursece4less.com 27

28 Children with cognitive delay often present with other delays as well. They also miss general developmental milestones, particularly the following [26]: Speaking their first words, generally at age months Responding to simple instructions, exploring on one s own, utilizing trial and error, generally at age 12 months Walking without aid, generally at age months Naming body parts, generally at 18 months Utilizing phrase speech, generally before the age of months Some studies indicate that cognitive delays may be in part the result of drug usage. One study, the Neurodevelopmental Effects of Antiepileptic Drugs (NEAD), confirmed that fetal exposure to the drug valproate impairs a child s IQ well into childhood [25]. This study was conducted on 310 pregnant women in the United States and the United Kingdom, with the purpose being to determine if there were differential long-term neurodevelopmental effects across four frequently utilized drugs: carbamazepine, phenytoin, lamotrigine, and valproate. Researchers indicate that the use of valproate during pregnancy led to significant cognitive effects in children, with the child IQ being 8 11 points lower (as compared with the other drugs). Valproate was therefore considered a very poor choice for women who were of childbearing age. While these results seem to indicate one possible culprit of cognitive delay in those with ASD, further study is needed to determine how drugs could be contributing to cognitive delays. A child with ASD may also experience additional mental health conditions or learning disabilities. For example, they may experience attention difficulties, problems controlling emotions, or have difficulties learning. There may also be mood or anxiety disorders present. For example, children with ASD sometimes suffer specific phobias in addition to ASD. It is also important to note that medication that is utilized to treat symptoms may affect a child with ASD cognitively. For example, children with ASD who also have attention deficits do not respond predictably to stimulant medications (i.e. methylphenidate) that may be prescribed for children with attention deficit disorder. Nursece4less.com 28

29 Keeping in mind that medication may affect the ASD child in unpredictable ways allows for customization of treatment protocol. ASSOCIATED FEATURES OF ASD Genetic disorders One of the biggest advances in understanding the pathophysiology of ASD has been appreciating the significance of the contribution genetics makes to the etiology of ASD. There are three main areas of evidence that support this genetic contribution: twin studies, which compare monozygotic twins (MZ) and dizygotic twins (DZ); family studies, which compare the rates of ASD in the first-degree relatives versus the general population; and, studies of genetic syndromes that also co-occur with a diagnosis of ASD [27]. Each of these will be addressed in turn in the following sections. Since MZ twins share 100% of genetic material, and DZ twins share 50% of genetic material (which is similar to siblings who are not twins), and both of these types of twins share an environment in utero, the higher disease occurrence in MZ twins as opposed to DZ twins supports the genetic etiology. This has been supported in more than one twin study and is overall consistent with estimates of heritability at around 70 80% [28, 29]. Studies in families indicate that first-degree relatives of those who are autistic have a marked increased risk of developing ASD as compared to those in the general population. This is consistent with the strong familial, genetic tie that was observed in the twin studies [30]. This is not to say that environment does not play a role, but rather to display that genetics also plays an important role as well. Further, first degree relatives of those with ASD display an increase in the behavioral and cognitive features that are associated with ASD, such as language deficits or autistic-like social impairments [31]; however these often manifest in lesser forms. This is as compared to the general population [32]. It has also been common knowledge for several decades that there are a number of medical and genetic conditions that are associated with ASD. For instance, conditions such as Joubert syndrome, Smith-Lemli-Opitz syndrome, Tuberous Sclerosis, and Nursece4less.com 29

30 Fragile X are all known to cause ASD, although many of these with a lower than 50% penetrance [33, 34]. Many genes have been identified for ASD; however, few of these genes are specific to ASD but instead contribute to a genetic risk for an associated disorder that causes ASD. Epilepsy Epilepsy is very common in those who suffer from ASD, and increasingly, practitioners are recognizing it as a problem that must be dealt with in addition to the problems that come with an ASD diagnosis. Approximately 20 30% of those who suffer ASD will develop epilepsy by the time they become adults [35]. However, actual rates of comorbidity vary with age and the type of disorder. Major risk factors for occurrence of a seizure are mental retardation as well as the presence of additional neurological disorders [36]. Therapeutic approaches to epilepsy in ASD include conventional treatments; however, should seizures not be evident, there is controversy as to what treatments should be utilized. Anticonvulsant medication may interfere with moods or behaviors, and disturbances in moods and behaviors are often observed in those patients with ASD. There is currently limited understanding regarding the link between ASD and epilepsy; however, from a clinical standpoint this link should not be dismissed. Intellectual disorders Recent findings [37] indicate that those with ASD also have a high prevalence of intellectual disorders. Intellectual disabilities are characterized by cognitive, social, and adaptive deficits, leading to the co-occurrence with other disorders, such as ADHD, mood disorders, and catatonia and repetitive behaviors, which further complicate matters. These problems may be problematic not only for the individual suffering from the disability but also for parents, caregivers, and providers. The disorder may be so severe as to be debilitating [38]. Matson [39] divides individuals into three distinct groups: those with intellectual disability (ID), those with ASD, and those with both ASD and ID. Matson states that it is important Nursece4less.com 30

31 for the practitioner to know which type of person he or she is treating, as that will determine the best course of treatment. For instance, an individual with both ID and ASD will have different needs than the individual who only has ASD. The combination of intellectual disorders and ASD presents a number of challenges as well as deficits across a wide range of behaviors or skills that are not seen in those individuals who have only ID or only ASD. For example, it has been observed [40] that those individuals with severe autism had more feeding problems that were behaviorally based, in particular with selecting or refusing food, as compared with those who only had ID. The combination also increases challenging behaviors. For example, as IQ goes down, the severity of challenging behaviors in ASD increases. Murphy et al [41] discovered that self-injury in particular increased. Further, those with ASD tend to not grow out of these types of behaviors; rather, they continue to present significant challenges over the lifespan, as observed by Murphy et al [41] in a 12-year follow-up conducted on 141 individuals with severe ASD and ID. DEVELOPMENTAL COURSE OF ASD It is commonly believed that those with ASD fall into one of two major developmental categories [42]. One category involves early onset of impairment and signs and symptoms of ASD without signs of regression. This is termed gradual onset course. The other category involves a rather typical development. This typical development is then followed by loss of language or social skills, sometimes with loss of both, that is paired with an emergence of ASD-type behaviors such as repetitive or stereotypical behaviors. This is termed regression course. There is mixed evidence when it comes to prognostic implications where the regression course is concerned. Some studies indicate that the regression course is associated with worse outcomes than is the gradual onset course [43]. Both of these courses may be diagnosed in early to late infancy [44]. There are two approaches that have been taken in order to understand the development of ASD. These approaches are retrospective and prospective. Retrospective approaches are mainly based on information gained from reviews of Nursece4less.com 31

32 medical records, parental recall, or observational coding of videotapes made in the home environment during the first or second year of life prior to the ASD diagnosis. Retrospective studies have generated information that indicates that the core deficits of ASD are social functioning [45]; however, they also indicate that children who suffer from ASD also exhibit disruptions in other areas of their lives within the first year of life, including motor skills, attention, and temperament. Prospective studies are considered optimal to investigate the timing and nature of how ASD emerges [42] because prospective, longitudinal studies conducted from infancy would provide a means of determining patterns of development in those children who are later diagnosed with ASD. This would later eliminate such confounds as recall bias. There have been five prospective studies to date that have provided longitudinal data before the third birthday in children who have ASD as well as in children who are not affected [46-50]. These studies have all indicated that the development of cognitive, motor, language, and social skills all appear to be fine at age 6 months. Development then slows. By the time the children enter pre-school, those with ASD frequently display motor delays. Gradual Onset Course The gradual onset course occurs just as its name suggests; signs and symptoms present themselves gradually. Parents or caregivers may notice increasing delays in development or strange behavior, such as an unwillingness to communicate or communicating in odd ways. One example of this would be a failure to look a person who is speaking in the face. Other examples include failure to turn when the child s name is called or failure to display interests by pointing to objects the child desires. Stereotypical behaviors may also develop, such as tapping or hand flapping. All of these behaviors are early warning signs that a child is developmentally delayed and may need to be screened for ASD. Regression Course The regression course occurs when a child is following a pattern of normal development, generally for the first months of life, and then he or she appears Nursece4less.com 32

33 to lose skills he or she has acquired. Language regression is considered the most obvious form of regression, but it may also be accompanied by more global regression, which can involve a loss of social skills or social interest. There is a late-onset regression course that may occur after the age of 3, but the more common course occurs prior to the age of 3. Regression is thought to lead to the more severe course of autism [51], particularly when young children abruptly lose acquired skills, according to a study published in the Journal of Autism and Developmental Disorders [52]. There is a particular debate among scientists as to whether children who regress form a distinct grouping of autistic individuals, as some studies have indicated that those with regression have poorer outcomes [53]. The study published in the Journal of Autism and Developmental Disorders surveyed the parents of 2,720 children and found that those children who regress were more likely to display more severe symptoms than were those children who had early onset delays. This was as measured through two standard questionnaires: the Social Responsiveness Scale and the Social Communication Questionnaire. Children in the regression group were more likely to receive a diagnosis of autistic disorder as opposed to a diagnosis that was on the milder end of the spectrum, such as Asperger syndrome, as compared to their earlier onset peers. Additionally, in a school setting, approximately 70% of children who regress are put into special education settings, with 56% needing a professional aid. Communication Research indicates that regression in communication, particularly in speech and gestures occurs in approximately 22 50% of those children with ASD [54]. The rate is so variable because the definition for regression is fairly loose and can mean anything from the loss of a minimum of five words for a period of 3 months to the loss of the consistent usage of one word used in standard communication. Approximately 30% of children who experience regression never manage conversational speech. Nursece4less.com 33

34 Social Loss of social skills can mean that the child stops returning the caregiver s gaze, for example, or displays a lack of interest in other people when they are in the same space with him or her. An increased disinterest in social games that the child previously enjoyed, such as patty cake or peek-a-boo, may become obvious. One meta-analysis [55] indicates that approximately 38% of children suffer from social regression. Cognitive Cognitive decline in ASD manifests as more than a child simply losing what he or she has learned to date. However, one of the manifestations most clearly seen in cognitive decline is the loss of language skills. The individual may have been learning language skills perfectly well and then suddenly loses the ability to learn new skills. Other features of cognitive decline are the inability to learn new material as well as the development of associated mental impairments. An example of an associated impairment would be epilepsy, a common impairment associated with ASD. Self-help skills The loss of self-help skills occurs when a child loses the ability to continue to develop independence. This means that the child fails to develop the ability to feed, clean, and dress oneself. Children who regress lose the ability to understand how to complete these tasks and can lack or lose the physical coordination necessary to complete these tasks. Additionally, the child may lose or not develop an understanding of how or when to ask for assistance with tasks. These types of tasks help children become socialized into his or her culture; without them the child is poorly socialized. The fact that many individuals with ASD are lacking in this area is one reason why they appear to be so poorly socialized. EFFECTS OF EARLY INTERVENTION Early detection of ASD allows for practitioners to intervene in a more timely way with behavioral therapies that may then improve outcomes. Currently, the American Academy of Pediatrics guidelines call for the screening of all toddlers at the ages of 18 Nursece4less.com 34

35 and 24 months [56]. These are the ages at which the existing screening methods are most able to identify children at risk for ASD. However, research has shown that a brief questionnaire administered to parents at their child s one year well-baby screening may help practitioners identify those children who have ASD or who are at higher risk for the development of ASD. One study involving 137 pediatricians who administered a 24-item checklist to all caregivers bringing in children for routine one-year check-ups indicated that about 346 of the 10,500 children screened were at risk for autism. These children were all referred to an autism clinic to be evaluated further. Of these children, approximately 50% were followed to age 3; and, 32 of these children received a diagnosis of ASD. Another 56 children were diagnosed with having a language delay. Of those children diagnosed with delayed language skills, 9 children were diagnosed with having a developmental delay, and; 36 children were diagnosed with other conditions. The screening utilized for autism in childhood called the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist, took the parents approximately 5 minutes to complete; and, the screening test predicted autism and other developmental delays approximately 75% of the time. This indicates that this questionnaire or one similar could be useful in identifying ASD earlier so that more timely intervention methods may be put to use. Although most pediatricians do not routinely screen early for ASD and other developmental delays (indeed, prior to the study, only 30 of the 137 pediatricians participating (22%) had routinely screened for ASD at 1 year of a child s life) there seems to be some good evidence that early intervention efforts do benefit those who suffer from ASD. The Early Start Denver Model (ESDM), which is a behavioral intervention program appropriate for children as young as 12 months who are suffering from ASD, has been found in more than one study to be effective in improving brain response as well as social skills. ESDM combines applied behavioral analysis (ABA) along with a developmental relationship based approach to achieve gains in language, cognition, and everyday living skills. ESDM is a unique approach in part because it works with Nursece4less.com 35

36 children who are very young, but also because it blends ABA with routines that are based in play and focus on building relationships. One study [57] utilizing ESDM examined 48 children with ASD between 18 and 30 months of age. The children were randomly assigned to either receive ESDM or a community based intervention regimen for a two-year period. Electroencephalogram (EEG) activity was measured at the close of the two-year period. The hypothesis was that children receiving ESDM would show higher levels of brain activity when viewing faces than when viewing objects than would children who were receiving the typical community regimen. The children were paired with typically developing children at the time of their EEG assessment. Additionally a group of typical 4-year-old children was tested as a comparison group. The children who were receiving the ESDM intervention regimen were given therapy services for 20 hours per week and parents were also trained to deliver the intervention regimen. Children who were in the community based regimen received treatment per usual in their community and were given evaluation, referrals, as well as resources and reading material at the start of services as well as two times annually. On the individual level, the study mentioned above showed that 11 of 15 children in the ESDM group (73%) and 12 of 17 children (71%) in the control group had higher levels of brain activity on their EEG assessment when viewing faces as opposed to viewing objects. This is compared to 5 of 14 (36%) children in the community regimen group. At the close of the study, the children in the ESDM group exhibited brain activity that was comparable to typically developing children and that was significantly different from those children who had received the community regimen. Dr. Geraldine Dawson, a developer of the ESDM intervention and one of the researchers on the study, stated the following: For the first time, parents and practitioners have evidence that early intervention can result in an improved course of both brain and behavioral development in young children. It is crucial that all children with autism have access to early intervention which can promote the most positive long-term outcomes [57]. Nursece4less.com 36

37 Another study [57], also examining the ESDM, found that this same model minimizes the need for required therapy following the intervention as well as achieves the best possible outcomes for the individual in terms of IQ, social interactions, and brain activity. The study compared 21 children who received ESDM to 18 children who received a community intervention regimen during the two years they received their early intervention regimen as well as the subsequent four years post-intervention. ESDM is more expensive to deliver in the early years of intervention; there was an average monthly cost of about $10,000 per child. Children on the community regimen had an average monthly cost of approximately $5,200. However, the hypothesis was that despite this greater up-front cost, ESDM would pay off greater dividends on the back end of things, promoting higher IQ, greater ease in social interactions, increased brain activity, and reduced therapy, leading to an overall reduced cost. In the four years following the early intervention, the children who had received the ESDM required an average of approximately $4,450 in related services such as speech, physical, and occupational therapy, as well as ABA. The children who received the community regimen required an average of approximately $5,550 in related speech, physical, and occupational therapy, as well as ABA. Study researchers believe this is very telling and differences in cost may be even broader than study results suggest, as the defining factors for related expenses were kept fairly narrow. David S. Mandell, study researcher expressed the following: I believe the cost efficiencies would become even more pronounced if there had been an evaluation on health costs and overall family economics such as the ability of both parents to continue to work and earn income while their child received services [57]. These two studies offer powerful evidence for the idea that early intervention such as early screening as well as methods such as ESDM may prove to offer better outcomes for those individuals who suffer from ASD, and in turn offer parents and caregivers a better outcome as well. Early intervention may help a child in the form of increased cognitive and social skills, and a family in terms of long-term financial savings. Therefore, there is strong evidence to suggest that early intervention benefits everyone involved with ASD. Nursece4less.com 37

38 RISK FACTORS There are a number of risk factors that contribute to ASD. There are both heritable and non-heritable risk factors. These risk factors are discussed below. Gender While ASDs occur in all racial, ethnic, socioeconomic, and gender groupings, it is well known that males have a greater likelihood than do females of developing an ASD. The ratio is as high as 5:1 [58]. It is not known or well understood why there is this discrepancy. It is also not known if concrete differences in development or presentation occur between genders. Males with ASD do have certain advantages over females with ASD. Research indicates that females with ASD tend to have lower Intelligence Quotients (IQ) than do males [59]. Males also show stronger verbal, motor, and social skills. However, when controlling for language, females display stronger nonverbal problem solving abilities. A recent study published in JAMA Pediatrics [60] that examined the records of more than 625,000 births indicated that birth that involved both augmented and induced labor was linked to a 35% higher instance of ASD as compared with labor that did not receive either treatment. The study further indicates that augmented or induced labor was linked with a smaller increased risk in boys. In girls, only the augmented birth was linked with a small increased risk. The researchers did control for a number of associated factors that have been shown to increase the risk of autism, such as the health or age of the mother. Researchers in the study added that the study results did not necessarily indicate cause and effect; rather, there could be other factors at play that have as yet been unidentified. One of these factors may be the usage of Pitocin (oxytocin) that is utilized to induce or augment labor. Approximately 50 70% of women who undergo induction in the United States receive Pitocin injections. There are other contributors that may be a factor, such as pregnancy conditions or delivery events that lead up to the need to induce labor. Further study is needed to determine why augmented and induced labor is leading to this increased the risk of ASD in boys. Nursece4less.com 38

39 Genetics Twin studies provide evidence to support that there is a heritable component to ASD etiology, although there has not been any particular gene discovered that predisposes an individual to ASD [61]. Twin studies have been done on both monozygotic (identical) and dizygotic (fraternal) twins. Monozygotic twins share all of their genes, whereas dizygotic twins share half of their genes, on the average. Studies have indicated that there are increased disease concordance rates among monozygotic twins as compared to dizygotic twins. A recent study indicated that there is a 60% monozygotic concordance among 25 sets of twins as compared to a 0% dizygotic concordance among 20 sets of twins [62]. This data suggests that there is a high rate of heritability. However, the suggestion has been made that estimations from twin studies may be overstated. Still, the large heritability discovered in twin studies is supported through familial aggregation studies [63]. Several studies have also shown a heightened risk for ASD amongst siblings of cases. This is termed sibling relative risk [61] and is estimated as the ratio of the risk for ASD among siblings of cases to the risk, or prevalence, in the general population [61]. The probability that a sibling of a case will develop ASD is estimated at between 2 % and 6% [64, 65], although there are some estimates that are as high as 7% for siblings of male cases and 14% of siblings for female cases [66]. It is important to remember, however, that these numbers are entirely dependent on the population prevalence estimates at the time of sampling, leading to higher or lower estimations, depending on what is happening in the population. There is also another avenue of support for genetic association, and this is the overlap of ASD with certain genetic disorders such as tuberous sclerosis [67], neurofibromatosis [68], and Fragile X syndrome [69, 70]. To that end, abnormalities on nearly every chromosome have been associated with one form or another of ASD phenotype, most notably on chromosomes 7, 15, and X [71]. The most frequently cited of these are duplications and deletions of the proximal area of chromosome 15 [72-75]. Breakpoints for chromosomal inversions that result in features of ASD frequently lie in fragile regions of Nursece4less.com 39

40 chromosomes, which lead to speculations about the possible role of unstable regions of DNA and submicroscopic chromosomal deletions [76, 77]. Prenatal and Perinatal Factors There are specific prenatal factors that may contribute to development of ASD. One such factor is maternal infections. In several studies [61], maternal infections were measured with non-specific indicators, which included maternal recall of symptoms such as fever as well as information archived in medical records. While the studies did not attain statistical significance for the infection measure, each reported a ratio of odds that were above 1.0 [78-80]. There are specific infections that are known to affect developing brains; of these that have been most commonly known to affect the developing brain as well as to be commonly associated with ASD is rubella. However, it has also been shown that other infections, such as herpes, syphilis, and varicella, as well as the flu, also have a higher than normal association with ASD. Another factor is prenatal and intrapartum pharmaceutical usage. For example, utilizing thalidomide during days of gestation has been associated with increased risk of ASD [81, 82]. This suggests that xenobiotics may play a role in the etiology of ASD. Animal studies [83, 84] and case studies [85, 86] reflect findings that valproic acid as well as other anticonvulsants may increase ASD risk. This is an interesting association, as these same drugs may prove therapeutic for non-epileptic children who suffer from ASD [87-89]. There are also some preconception factors that may be associated with development of ASD. For instance, in the 1970s the idea that environmental exposure to certain chemicals arose [90]. This hypothesis was revisited in the 1990s when parents without incidence of ASD who lived close to plastic manufacturing plants appeared to have a higher incidence of children with ASD [91]. However, upon examination, the Massachusetts Department of Public Health concluded that further investigation of the cases in question was not needed [92]. Nursece4less.com 40

41 While preconception chemical exposure factors have not been thoroughly explored, hypotheses of postnatal chemical exposures have been more thoroughly investigated, primarily through looking at case studies. However, epidemiologic evidence for specific postnatal environmental exposure that in turn leads to development of ASD is not substantial. One of the more comprehensive investigations into the matter was conducted in Brick Township, New Jersey, where there was a high local presence of ASD near local landfills. This raised concerns that landfills were leaching chemicals into the drinking water or into local swimming areas. The Agency for Toxic Substances and Disease Registry looked into the possible exposure pathways, as well as evaluated data on levels of trihalomethanes, tetrachloroethylene, and thrichloroethylene. While these chemicals were present in the drinking water at various times during the study, the levels were found to be low or in locations that did not correspond with the locations being studied or with the timing of the pregnancies being studied [93, 94]. Neuroanatomical Abnormalities Neuroanatomical abnormalities in the brains of individuals with ASD provide concrete evidence that there is a neurobiological component to ASD [95], that the disease is more than just a behavioral disorder with purely environmental contributions. The neurobiology of the disorder has been examined since the dawn of the disorder, and both genetic and non-genetic factors have been shown [96]. However, particular etiologic factors are as yet undefined. Frontal lobe volume does appear to be decreased in individuals with autism [97]; there also appears to be a decrease in gray matter (GM) volume in the orbitofrontal cortex [98] as well as an abnormally thin frontotemporal cortex [99]. However, conflicting studies [ ] have reported that GM volume and thickness is actually enlarged in these areas. An increase in GM volume has also been indicated in areas involved in communicative and social functions, to include the dorsal and medial prefrontal regions, the lateral and medial temporal area, the parietal regions, and the auditory and visual association cortices [ ]. Likewise, discrepant white matter (WM) have been indicated in autism, including regional increases [ ], as have decreases in cross-sectional areas and the microstructure of the corpus callosum [110, 111]. Concomitant WM disruptions have been Nursece4less.com 41

42 indicated in prefrontal, superior temporal, temporoparietal cortices and the corpus callosum, but there have also been observations of an increase in whole brain WM [101, 109]. It is not clear how these anatomic abnormalities related to domain specific cognitive impairment in social functioning, emotional functioning, language deficits, communication deficits, and deficient executive function. Microscopic observations of the brains of individuals with ASD have discovered reduced cell size as well as increased cell-packing density (meaning an increased number of nerve cells per unit volume) in the hippocampus, amygdala, mammillary body, anterior cingulate gyrus, and medial septal nucleus [112]. These structures are recognized as being connected to one another by interrelated circuits. They also comprise a major portion of the limbic system. The limbic system is acknowledged to be important to emotion and behavior, as well as learning and memory. It also plays a large role in the integration, processing, and generalization of information. Abnormalities of the limbic system may account for a lot of the major clinical features of ASD, including language dysfunction as well as social deficits. Additionally, abnormalities have been located in the cerebellum, where the amount of Purkinje cells is much reduced, particularly in the posterior and inferior parts of the hemispheres bilaterally. The vermis microscopically appears normal. Abnormalities have also been seen in the deep cerebellar nuclei. These findings appear to vary along with the age of the patient. Comparable observations have been seen in the inferior olivary nucleus neurons as well as the neurons of the nucleus of the Diagonal Band of Broca. [113] Nursece4less.com 42

43 The fact the the olivary neurons are preserved even in the face of such markedly reduced number of Purkinje cells indicates that these brain lesions are likely of prenatal origin. The role of the cerebellum in ASD is not certain. Some studies [112] show that it may play a role in the modulation of language, attention, emotional affect, mental imagery, cognition, and anticipatory planning. Therefore, it is likely that the abnormalities in both the limbic system and the cerebellum are important to understanding the clinical features of ASD. Brain enlargement Brain changes prior to the age of 2 may lead to brain enlargement that in turn leads to ASD. One study conducted by University of North Carolina (UNC) researchers found that children with ASD who had enlarged brains at the age of 2 years also had enlarged brains at the ages of 4 and 5. However, their brain growth was not markedly different than it had been at 2 years old. Researchers conducted their original study in 2005, with a follow-up study conducted in In 2005, researchers discovered that 2-year-old participants with ASD had brains that were up to 10% larger than those of children at the same age that did not have ASD. The follow-up study indicated that the children with ASD continued to have brain enlargement in subsequent years, but at the same level they had it at 2 years old. This finding led researchers to conclude that the changes they detected at the age of 2 were due to growth prior to that time period. Additionally, the study discovered that the enlargement was affiliated with an increase in folding on the surface of the brain, not an increase in gray matter. Researchers posit that this increase is more than likely genetic and results from an increase in the proliferation of neurons in the developing brain [114]. The researchers suggest that the brain overgrowth may be occurring around the child s first birthday. Another study conducted by the University of California Davis MIND Institute indicated that those children who were later diagnosed with ASD were found to have an excess of cerebrospinal fluid as well as enlarged brains in infancy. This brought up the possibility Nursece4less.com 43

44 that these types of brain abnormalities may serve as potential biomarkers for the early identification of the neurodevelopmental disorder [115]. The study is the first to link the excess of cerebrospinal fluid that existed during infancy to the development of ASD. A potential positive outcome to the study is that it would offer practitioners a new way to positively screen for ASD, because the brain anomaly would be detectable utilizing a conventional MRI. Therefore, early detection would be possible; this is crucial in children who have ASD because it allows for timely intervention. Early intervention offers the most hope in decreasing the behavioral and cognitive impairments associated with ASD and increasing positive long-term outcomes. This study was conducted on 55 children who were between 6 26 months of age. Thirtythree of these children had an older sibling who had an ASD. Twenty-two were children who had no family history of ASD. Researchers indicated that the brain anomaly was more significantly detected in those infants who were high risk and who were later diagnosed with ASD between 24 and 26 months of age. Another study [116] examined abnormal brain growth and onset status: early onset or regressive onset. This particular study examined 2 4 year olds whose status was either non-regressive (n = 53) or regressive (n = 61). There was also a control group of non-affected 2 4 year olds (n = 66). Researchers discovered that abnormal brain enlargement was most commonly discovered in boys with regressive ASD. Brain size in boys who were non-regressive did was not different from the control group. Retrospective head circumference measurements were also taken, and it was discovered that head circumference in boys with regressive ASD is normal at birth but then diverges at around 4 6 months of age. Girls who have autism do not have any difference in brain size from those in the control group. Researchers posit that these results indicate that there could be certain neural phenotypes that are associated with the different types of onset of ASD. For instance, the rapid head growth may be a risk factor for regressive type ASD. Nursece4less.com 44

45 Environmental Factors There are several environmental factors that may be associated with the development of ASD. One of these is childhood infection. There have been reports of sudden onset of ASD symptoms in older children following herpes encephalitis [ ]. There are other infections that can result in secondary hydrocephalus; for example, meningitis. These infections may lead to development of ASD [120]. One study indicated that mumps, chicken pox, fever of unknown origin, and ear infections were significantly associated with an increased risk of development of ASD [121]. Some vaccinations may also increase the risk for development of ASD. A paper published in 1998 indicated that the measles-mumps-rubella vaccine might be linked to ASD development [122]. However, epidemiologic studies have not provided evidence that supports a link between the vaccine and the risk of developing ASD [ ]. Similarly, case study comparisons do not find any indication of post-vaccination increase in risk of developing ASD [123, 128]. Further, a population based retrospective study that included more than half a million children from Denmark who were born between 1991 and 1998, 82% who had received the measles-mumps-rubella vaccine, discovered no association between the vaccine and development of ASD [129]. There are additional concerns over vaccines and ASD, which stem from the usage of thimerosal, which is a preservative that contains ethylmercury. Ethylmercury is itself similar to methylmercury, which is a known fetal neurotoxin that can cause severe brain injury at high doses and leads to developmental delays and dysfunction at lower doses [130]. There is limited data that suggests that higher doses of ethylmercury is similar to higher doses of methylmercury [131, 132], and there is no data on low dose exposure to ethylmercury. There is not much data on the association to date. Data from the Vaccine Safety Datalink of the Centers for Disease Control and Prevention indicates weak association between thimerosol related exposure to mercury and related neurodevelopmental disorders, but not association to ASD itself [133]. Existing evidence is considered to be inconclusive. Although Thimerosal has been Nursece4less.com 45

46 removed from vaccines, there are still many individuals alive with ASD who have received vaccinations that contained thimerosal. Other environmental factors include birth complications, including umbilical cord complications, fetal distress, injury or trauma during birth, multiple births, maternal hemorrhage, summer births, low birth weights, congenital malformations, low 5-minute Apgar score, feeding difficulty, neonatal anemia, meconium aspiration, hyperbilirubenemia, and ABO or Rh incompatibility [134]. Parental age at the time of conception is also a factor; and, this includes the age of both parents. One study [135] indicated that firstborn children of 2 parents who were older were 3 times more likely to develop ASD than were third or later born children of mothers who were years of age and fathers who were <40 years of age. Therefore, the risk of ASD increases with both maternal and paternal age. Another environmental risk factor may be waiting less than a year between pregnancies. One study [136] indicated that pregnancies that are closely spaced are associated with an increase in ASD. The study examined pairs of first and second born siblings in California that occurred between 1992 and 2002 and examined ASD diagnoses in these siblings. Results of the study indicated that children who were born after shorter intervals between the pregnancies were at an increased risk of developing an ASD, with the highest risk being associated with pregnancies that were spaced less than a year apart. One more environmental risk factor may be not taking prenatal vitamins, as taking prenatal vitamins has been shown to slightly reduce the odds that a child will develop ASD. One study examining Northern California families enrolled in the Childhood Autism Risks from Genetics and Environment (CHARGE) study [137] concluded that mothers who had children with ASD were less likely than were mothers of non-affected children to have taken a prenatal vitamin during the 3 months prior to pregnancy or in the first month of pregnancy. This led researchers to conclude that the peri-conceptional use of prenatal vitamins may reduce risk of birthing a child with ASD, particularly in those who are already genetically susceptible to ASD. Nursece4less.com 46

47 What is important to note regarding environmental risk factors is they do not affect a child in a vacuum. Many children are exposed to environmental risk factors without developing ASD. This leads researchers to conclude that if a child is genetically predisposed to ASD, for example, then these types of environmental risk factors may increase the risk of development of an ASD. Studies have indicated that there are other environmental factors - such as the maternal use of antipsychotics and mood stabilizers that may increase the risk of development of ASD. However, the risk must also be weighed against the mother s need, which can also affect the health of the child she will be having. Additionally, most risk factors that are not yet well documented may only increase the risk of development of ASD slightly as compared with other risk factors, such as genetic predisposition, making it difficult to pinpoint how, exactly, environmental factors contribute to the larger overall picture of each single ASD diagnosis. DIAGNOSIS Differential Diagnosis Diagnosing ASD is no easy task, particularly since ASD may mimic other disorders, and vice versa. Hence, what is required of practitioners is making a differential diagnosis, or differentiating between conditions that share symptoms. One such example is ASD and ADHD, which look remarkably similar. The CDC [138] has released a handout outlining differences to allow practitioners to make a differential diagnosis between ASD and commonly confused conditions. These conditions are as follows: Developmental delays and intellectual disabilities: Those with intellectual disabilities or developmental delays may display autistic features but may not meet the criteria for ASD. Those with ASD may have an intellectual disability or be of normal intelligence. Those with intellectual disability generally have better social and communication skills than do those with ASD who are of the same cognitive level. Nursece4less.com 47

48 Fetal alcohol syndrome disorders: There is an increase in risk of ASD as well as other neurodevelopmental disorders in those children who were exposed to alcohol in utero. Genetic syndrome: There may or may not be a family history, although this is dependent upon the specific disorder. Should dysmorphic features be present, genetic disorders should be considered. There are certain neurogenetic disorders that tend to be associated with ASD; and, these include the following: Fragile X this includes intellectual disability, large ears, macrocephaly, large testicles, hyptonia, and joint hyperextensibilty. Tuberous sclerosis this includes hypopigmented macules, seizures, central nervous system hamartomas, and intellectual disability. Angelman syndrome this includes developmental delays, wide-based ataxic gait, progressive spasticity, hypotonia, and seizures. Rett syndrome this is a disorder mainly seen in girls. There is an apparently normal development over the first 5 48 months of life that then results in microcephaly. The child then loses the previously acquired hand skills and often develops hand wringing stereotypies. Frequently seizures develop. Hearing impairment: Often this can be due to a history of fluid or recurrent otitis media. Those with hearing impairments frequently have speech delays but typically may use a compensatory nonverbal type of communication. These children will make eye contact and utilize facial expression. Those with ASD however can sometimes be described as having selective hearing (they may not respond if someone calls their name, but they become overly sensitive to other noise). Those with hearing impairments are generally underresponsive to all noises, although this may be somewhat variable dependent upon the degree of hearing loss. Nursece4less.com 48

49 Mental Health Disorders: Mental health disorders is a fairly broad category of differential diagnoses with variable symptomology that depends upon the specific diagnosis. Some of the diagnoses not uncommonly seen in individuals with ASD are outlined below: Obsessive compulsive disorder (OCD) The obsessive thoughts and repetitive actions seen in obsessive compulsive disorder may appear very similar to the kinds of ritualistic behaviors and motor stereotypies seen in ASD. Anxiety disorders those with anxiety problems may be hesitant to interact with other people. They may have problems with change or transitions. Those with anxiety are still socially related, however, and they still have appropriate social insight, whereas someone with ASD does not. Depression Depression may present in a variety of ways, and particularly in children. Children may be withdrawn or they may isolate themselves from others. They may display a blunted affect and avoid eye contact, which are all signs of ASD as well. Attention deficit hyperactivity disorder (ADHD) Those with ADHD can have impairments in social skills as a result of hyperactivity or impulsivity. They may have a hard time sustaining a conversation as a result of inattention. Those with ASD also often have issues with hyperactivity, impulsivity, and inattention. Oppositional defiant disorder (ODD) The behavioral problems seen in those children with ODD are generally intentional. Many children will have temper tantrums at some point; however, children who have ASD are more likely to have tantrums that are associated with anxiety that results from transitions or tantrums that appear to be for no reason. Tourette syndrome - The tics seen with Tourette syndrome may appear to be similar to some of the motor stereotypies seen with ASD. Those with Tourette syndrome will generally not have the social or communication problems seen Nursece4less.com 49

50 with ASD though. However, there may still be some isolation due to embarrassment or avoidance of peers, which should be taken into account. Psychosocial factors are important to consider when evaluating individuals with ASD and co-occurring mental illness, for example, issues of abuse and neglect. Those who have a history of psychosocial factors such as neglect or abuse may be very withdrawn or hesitant to interact with other people. They may also display skills regression, such as a loss of language, or they may display behavioral problems. Sensory problems: Those with ASD often times have sensory issues such as being hypersensitive to loud noises or avoiding certain textures in foods. A person without ASD but who has sensory impairments will not have the accompanying social and communication impairments. Speech and language disorders: Those with speech and language disorders will compensate with nonverbal forms or communication. These nonverbal compensations include pointing and gestures. There is a lack of severe social deficits, although there may be some social impairment that results from communication difficulties. In a person with ASD, nonverbal communication and social skills is often lacking. Level 1 Screening Evidence based recommendations for routine Level 1 developmental screening for ASD are important in the evaluation and treatment planning phases [139]. Providers and nurses need to be knowledgeable and consistent about the following when caring for the individual with ASD: Developmental observation should be conducted at all well child visits from infancy on through school age and at any age thereafter if there are concerns that are aroused regarding social interactions, learning, or behavior. Nursece4less.com 50

51 The recommended developmental screening tools include: Ages and Stages Questionnaire, BRIGANCE(R) Screens, the Child Development Inventories, and the Parents Evaluations of Developmental Status. Further evaluation is needed should a child fail to meet any of the following milestones: o Failure to babble by 12 months o Failure to gesture such as pointing or waving goodbye by 12 months o Failure to speak in single words by 16 months o Failure to speak in two word spontaneous phrases by 24 months o Loss of language or social skills at any age Siblings of those children who have ASD must be carefully monitored for acquisition of social, play, and communication skills as well as the occurrence of maladaptive behavior. Screenings should be conducted not only for ASD related symptoms but also for learning difficulties, language delays, social problems, and anxiety and depressive symptoms. ASD screening should be conducted on all children who have failed routine developmental screening procedures utilizing one of the validated instruments: the Checklist for Autism in Toddlers (CHAT) or the Autism Screening Questionnaire. Laboratory investigations that are recommended for all children with developmental delays or ASD include audiological assessments and screening for lead exposure. Early referrals for assessments should include behavioral measures, assessments of middle ear function, and electrophysiological procedures. Lead screening should be conducted in any child who has developmental delay and pica, and additional periodic screening should be conducted if the pica (an abnormal craving for non-food substances, i.e. dirt, paint or clay) persists. Nursece4less.com 51

52 Level 2 Evaluation Evidence based recommendations for routine Level 2 diagnosis and evaluation for ASD involve the following [139]: Genetic testing in children with ASD, in particular high-resolution chromosome studies and DNA analysis for Fragile X should be performed should there be a presence of mental retardation or if there is a family history of Fragile X or an undiagnosed mental retardation, or if there are dysmorphic features present. Selective metabolic testing should be performed if the following are present: lethargy, cyclic vomiting, or early seizures, or if evidence of mental retardation is evident or cannot be ruled out. There is no evidence at the moment to indicate that routine clinical neuroimaging can assist in evaluating or diagnosing ASD. Additionally, there is not sufficient evidence to support the idea that hair analysis, celiac antibodies, allergy test, thyroid function tests, or erythrocyte glutathione peroxidase studies can assist in evaluation or diagnosis. Another important consideration in the evaluation and treatment of individuals with ASD relate to Consensus Based Principles of Management [139]. There are some recommendations that are based on consensus agreement, and, these are listed below. Surveillance and Screening: In the United States, states are required to follow Public Law , the Individuals with Disabilities Education Act Amendments of 1997-IDEA 97, which orders immediate referral for a free appropriate public education for eligible children with disabilities from the age of 36 months, and early intervention services for infants and toddlers with disabilities from birth through 35 months of age [139]. Diagnosis: The diagnosis of ASD should include the usage of an instrument that has at the least a good specificity for ASD and a moderate sensitivity. Sufficient time should be allotted for standardized parental or caregiver interviews regarding concerns and child behavioral Nursece4less.com 52

53 history, as well as time given to direct and structured observation or social and communication interactions and play. Recommended instruments include the use of rating scales and diagnostic parental interviews; examples are outlined below: The Gilliam Autism Rating Scale: This is an instrument that assists both parents/caregivers and practitioners in identifying and diagnosing ASD by examining stereotyped behaviors, communication, and social interaction in individuals. This assessment consists of 42 items that describe behaviors characteristic of individuals with ASD. The assessment is utilized for identification of ASD in individuals, of the ages 3 through 22 years. The Parent Interview for Autism: This assessment was designed to measure ASD symptom severity across a wide range of behavioral domains. The main point of this assessment is to assess behavioral change in young children. The Pervasive Developmental Disorders Screening Test Stage 3: This assessment may actually screen for several ASD disorders in children as young as 18 months. This assessment is designed to be a parental reporting measure, and the assessment facilitates early identification in order to offer parents, caregivers, and practitioners the opportunity to implement early intervention methods. The Autism Diagnostic Interview-Revised: This assessment is a structured interview that is utilized for diagnosing ASD as well as distinguishing ASD from other developmental disorders and planning treatment. The assessment is designed for children and adults with a mental age above 2 years. Diagnostic Observation Instruments (these are differentiated further as): Nursece4less.com 53

54 o The Childhood Autism Rating Scale: This is a behavioral rating scale frequently utilized to diagnose ASD. The scale rates children on a scale of 1 through 4 on various criteria and comes up with a composite score that rates the child from non-autistic to severely autistic. o The Screening Tool for Autism in Two-Year-Olds: The STAT is an empirically based, interactive measure developed to screen for autism in children between 24 and 36 months of age. It is designed for use by community service providers who work with young children in assessment or intervention settings and who have experience with autism. o The Autism Diagnostic Observation Schedule-Generic: This assessment is observation based and examines the social and communication based behaviors that are frequently delayed in those that have ASD. The assessment consists of four 30-minute observational sessions that contain communication, socially interactive, play, and imaginative elements to test the child. Medical and neurologic evaluation of the individual with ASD should include the childhood developmental history and milestones. Also, the history should reflect if there was regression in early childhood or later on in life; encephalopathic events, attention deficits, seizure disorders, depression or mania, behaviors such as irritability, self-injury, sleep or eating disturbances, or pica. A neurologic and physical examination in the child should include: longitudinal measurements of the circumference of the head as well as examination of the head for unusual features that may suggest a need for a genetic evaluation, neurocutaneous abnormalities, gait, reflexes, tone, cranial nerves, and a determination of mental status that includes verbal and nonverbal language and play. Evaluation and monitoring of ASD involves multivariate considerations and approaches, as well as interdisciplinary ASD specialists to ensure best outcomes. Both the Nursece4less.com 54

55 immediate and long term evaluative and monitoring approach of those who suffer from ASD requires a multi-disciplinary approach which may include one or more of the following professionals: psychologists, speech-language therapists, neurologists, audiologists, pediatricians, occupational therapists, child psychiatrists, and physical therapists. In addition, educators or special educators may also be involved. Those individuals who have mild ASD must also receive adequate assessment and diagnosis. Re-evaluation within 1 year of the initial diagnosis and continual monitoring is one expected aspect of clinical practice. While there is not a need to repeat extensive diagnostic tests, follow-up visits may be helpful when it comes to addressing behavioral, environmental, and developmental concerns. Common and helpful evaluations and developmental tests for ASD are highlighted below: Speech, language, and communication evaluation: A speech, language, and communication evaluation should be conducted on all children who fail a language developmental screening conducted by a speechlanguage therapist who is trained in evaluating children who have developmental disabilities. Comprehensive assessments of pre-verbal and verbal individuals should take into account such factors as age, cognitive level, and socioemotional ability. These assessments should examine receptive language and communication, expressive language and communication, voice and speech production, and the collection and analysis of spontaneous language. Cognitive and adaptive behavioral evaluations: A psychologist or other trained practitioner should conduct cognitive evaluation on all children with ASD. Cognitive instruments must be appropriate for both the chronological and mental age and provide a full range of standard scores and current norms that are independent of social ability, include independent measures of both nonverbal and verbal abilities, and provide a full index of ability. A measure of adaptive functioning must be collected for any child who has been evaluated as having an associated cognitive handicap. Nursece4less.com 55

56 Sensorimotor and occupational therapy evaluations: An evaluation of sensorimotor skills should be considered. A qualified professional such as an occupational therapist or physical therapist should conduct this assessment. The assessment should include an examination of both gross and fine motor skills, sensory processing abilities, praxis, unusual and stereotyped mannerisms, and the impact of all of these on the individual s life. An occupational therapy evaluation is suggested when the deficits that are present exist in functional skills or in the areas of leisure/play, self-maintenance in daily living activities, or in productive school or work tasks. Sensory Integration and Praxis Tests may be utilized on a case-by-case basis to detect certain patterns of sensory integrative dysfunction, although these are not always routinely warranted in all evaluations of those children who suffer from ASD. Sensory Integration and Praxis Test (SIPT): This assessment is a battery of 17 subtests that require children to perform a variety of motor tasks, either visual, tactile, kinesthetic, or motor, to assess sensory integration. The assessment is intended for ages 4 years through 8 years, 11 months [139]. Neuropsychological, behavioral, and academic assessment: These types of assessments should be performed on an as needed basis in addition to cognitive assessments. These assessments should include relationships and social skills, educational functioning, learning style, problematic behaviors, sensory functioning, self-regulation, motivation and reinforcement. There should also be an assessment of family resources performed by a qualified psychologist or other professional to include an assessment of the parent or caregiver s understanding of their child s condition as well as familial strength and talents, stressors and adaptations, and supports and resources. This also offers the practitioner the opportunity to offer the family the proper counseling and education. Nursece4less.com 56

57 Psychological Assessment Tools Autism Diagnostic Interview Revised (ADI-R) The Autism Diagnostic Interview Revised (ADI-R) is a clinical diagnostic tool utilized to assess autistic disorder in both children and adults [140]. The ADI-R offers a diagnostic algorithm for autism that is described in the ICD-10 and in the DSM. This diagnostic tool focuses on autistic behaviors in 3 primary areas: qualities of reciprocal social interactions; communication and language, and; restricted and repetitive stereotyped interests and behavior. The ADI-R is appropriate for use in with children and adults who have a mental age of 18 months and older. The tool contains 93 items. Beyond the three main areas of focus the tool also includes other areas relevant for treatment planning; for example, self-injury or over-activity. Responses to items are scored by a clinician, which is based on the parent or caregiver description of the child or adult individual behavior. Items are organized around content area, with definitions of behavioral items being provided. For example, in the area of communication, Delay or total lack of language not compensated by gesture [140] is broken down further into behavioral items that are specific, such as pointing to items or expressing interest, nodding or the head, or expressing conventional gestures. All items in the ADI-R ask about current behavior. The exception to this is found with a few behaviors that only occur within specific age periods. In these items, specific age limitations are given. For instance, items that ask about group play are referring only to behavior displayed between ages 4 and 10. In addition to inquiring about current behavior, items focus on time periods in which behaviors are likely to be pronounced this is generally between the ages of 4 to 5 years of age. The tool begins with an introductory question that is followed by questions about the participants early development. After the introductory question, the following 41 questions regard verbal and nonverbal communication. Questions specifically regard social development and play. There are included questions that regard interests and behaviors; and, there are 14 questions that regard general behavior. The final 14 Nursece4less.com 57

58 questions in the ADI-R include questions about motor skills, memory skills, over-activity and fainting. The ADI-R tool generates scores in each of the three main content areas as stated above. Elevated scores are indicative of problematic behavior in that particular area. Scores are based on a clinicians judgment, with a clinician giving a score of 0 3 for each item: a score of 0 is awarded when behavior of the type specified in the coding is not present ; a score of 1 is awarded when behavior of the typed specified is present in an abnormal form, but not sufficiently severe or frequent to meet the criteria for a 2 ; a score of 2 is indicative of definite abnormal behavior, and; a score of 3 indicated extreme severity of the behavior in question [140]. Additionally, there are also scores of 7, which indicates definite abnormality in the general area of the coding, but not of the type specified; scores of 8, which indicates not applicable, and; scores of 9, which indicates not known or asked [140]. All of these scores are converted to 0 in the algorithm. A child is classified as autistic when the scores in all three main content areas meet or exceed certain specified cutoffs and the onset of autistic spectrum disorder is evident by 36 months of age. The same algorithm is utilized for children who have mental ages of 18 months through adulthood, with 3 versions that contain minor modifications, which are: A life-time version Version that is based on current behavior Version utilized for children under age 4 This algorithm specifies a minimum score in each main content area to lead to a diagnosis of autism. There are some practical issues to consider when utilizing this diagnostic tool; such as, this interviewer-based tool requires quite a bit of training in both administration and scoring. The test, however, when administered by a well-trained professional, only takes approximately 90 minutes for children and slightly longer for adults. The test has a strong background of internal validity as well as inter-rater and test-retest reliability [140]. Nursece4less.com 58

59 Autism Diagnostic Observation Schedule (ADOS) The Autism Diagnostic Observation Schedule (ADOS) is a semi-structured assessment tool that examines communication, social interaction, and play in individuals who are suspected of having autism spectrum disorders [141]. ADOS consists of four different modules, each of which is appropriate for use for testing on children and adults of different developmental and language levels. The ADOS is a standardized testing tools and is comprised of standardized activities that allows the administrator to observe the presence or non-presence of behaviors that have been determined to be important to extending a diagnosis of ASD. The test is administered through the administrator selecting the module that is most appropriate for the individual s language level and chronological age. The participant s response is then recorded within each module and overall ratings are made at the end of each schedule. The ratings may then be utilized to formulate a diagnosis by way of utilizing an algorithm for each module. The ADOS basically provides a minute observation period in which the administrator of the test presents the participant with a number of opportunities to exhibit typical ASD behaviors by pressing the individual to communicate through social interaction and language skills [141]. The modules offer social-communicative sequences that unite a series of both unstructured and structured situations, each of which offers a different combinations of the above-mentioned presses for social behaviors. Module 1 is designed for individuals who do not regularly utilize phrase speech [141]. Materials in this module have been selected for younger children, although materials from other modules may be substituted if the administrator so desires. Module 2 is designed for individuals who have some phrase speech but do not possess verbal fluency. Module 3 is designed for individuals who are verbally fluent, which is defined as having the expressive language of a typical four-year-old child [141]. Module 3 also includes tasks such as playing with age appropriate toys this typically encompasses up to ages Module 4 is much the same as module and includes many of the same tasks; and, Module 4 is intended primarily for verbally fluent adolescents and Nursece4less.com 59

60 adults. The biggest difference between module 3 and module 4 is in whether information about social communication is more suitably acquired during playtime or during a conversational interview. The four modules overlap in terms of activities and together they contain a variety of tasks. These tasks range from observing the way a young child requests that the administrator continue to blow up a balloon in Module 1 to a conversation about a social relationship in Module 4. Modules 1 and 2 are frequently conducted whilst moving about different places in a room whereas Modules 3 and 4 are frequently conducted whilst sitting at a table and consist of more conversation and language that do not come along with physical context. The superficial appearance of each of the different modules may seem quite varied; however, the general principles involved in the deliberate variation of the administrator s behavior when it comes to utilizing a hierarchy of both structured and unstructured behavior remain the same. Standardization lies in this hierarchy of behavior that is employed by the administrator and the types of behaviors that are taken into consideration in each activity during the ratings. The activities work to structure the interaction. The ADOS offers practitioners the opportunity to observe social and communication behaviors in standardized and well documented contexts, and the primary goal of the ADOS is to provide a standardized context in which to observe social and communicative behaviors of participants across the life span in order to aid with diagnosis. For diagnostic purposes, use of the ADOS should also be accompanied by other information, in particular a detailed observational history from parents or caregivers when possible. Other questionnaires There are a number of other developmental and behavioral screening tools available. These include the following: Ages and Stages Questionnaire (ASQ-3): Nursece4less.com 60

61 The ASQ-3 covers ages 1 month through 66 months. There are 21 questionnaires and scoring sheets for the following childhood ages: at 2, 4, 6, 8, 9, 10, 12, 14, 16, 18, 20, 22, 24, 27, 30, 33, 36, 42, 48, 54, and 60 months of age. The ASQ-3 screens several different areas, which include communication, fine motor, gross motor, personal and social skills, and problem solving. The ASQ-3 is completed by parents and caregivers and is scored by a professional or clerical worker trained at scoring the assessment [142]. Ages and Stage Questionnaire: Social-Emotional (ASQ:SE): The ASQ:SE covers ages 3 through 66 months. There are 8 questionnaires for use at 6, 12, 18, 24, 30, 36, 48, and 60 months of age. The ASQ:SE screens several different areas, including self-regulation, communication, autonomy, interaction with people, compliance, adaptive behaviors, and affect. The ASQ:SE is completed by parents or caregivers and is scored by a professional [143]. Brief-Infant-Toddler Social-Emotional Assessment (BITSEA): The BITSEA covers ages 12 months through 36 months. The BITSEA is a social emotional screener that may be administered by a parent or caregiver and is scored by a professional with a minimum qualification of a Master s degree in a related field [144]. Child Development Inventory The Child Development Inventory covers ages 0 through 6 years and is a 300- item questionnaire that parents may complete either in the home or in a professional s office. The purpose of this assessment is to record observations of the child s behavior. This assessment screens several different behavioral areas, including social, gross motor, fine motor, self-help, language comprehension, expressive language, numbers, and letter. The assessment also includes a General Development Scale as well as 30 items designed to identify a parent or caregiver s concerns about their child s growth, health, hearing, vision, behavior, and general development [145]. Nursece4less.com 61

62 CSBS DP Infant-Toddler Checklist: The CSBS DP Infant-Toddler Checklist is designed to assess children ages 6 months through 24 months. Components include a 1 page Infant-Toddler Checklist, a 4 page Caregiver Questionnaire, and a Behavior Sample, which is conducted while the parent and child interact. The CSBS DP Infant-Toddler Checklist screens several different language predictors, including emotion and eye gaze, gestures, words, object use, communication, sounds, and understanding. Caregivers or professionals who are trained to assess young children, such as speech language therapists or early interventionists, conduct the assessment; a professional scores the results [146]. Parents Evaluation of Developmental Status (PEDS): PEDS is an assessment designed for children ranging in age from 0 through 8 years. PEDS is considered one of the most brief, yet accurate, methods for early detection of ASD. The screening consists of 10 short questions that parents complete. PEDS helps parents decide the following: o If a child needs a developmental or mental health assessment, and if they do, then a determination is made of the kind of testing needed. o If parents need advice, a determination is made on what topics for which advice is required. o If a child needs to be watched over time to offer prompt attention for emerging potential problems. o Whether or not reassurance and monitoring is what is required or if there is something more that is required. All children at high risk on PEDS should be referred and monitored. PEDS takes only approximately 2 minutes to complete and may be completed even in practitioners waiting rooms. There is a high specificity to this assessment. Further, PEDS is an assessment that may be administered online [147]. Parents Evaluation of Developmental Status-Developmental Milestones (PEDS:DM): Nursece4less.com 62

63 The PEDS:DM is an assessment designed for children from 0 to 7-11 years of age. This assessment may be used either with the original PEDS assessment or on its own. Each item assesses a different developmental domain, including fine motor and gross motor skills, expressive and receptive language skills, self-help, social-emotional skills, and for those children who are older, skills such as reading and math. If there is failure on an item it often predicts difficulties in that domain. The assessment is designed with a high specificity and to provide clear criteria regarding when to refer. There is value in utilizing the PEDS and PEDS:DM together, as the two assessments combined have only 16 to 18 questions to answer per visit. The assessment is designed to address parental or caregiver concern as well as focus the visit. It also helps ensure collaboration between the parent and the practitioner in that it puts the two together on the same page in terms of where treatment is headed [148]. Social-Emotional Growth Chart The Social-Emotional Growth Chart takes approximately 10 minutes to administer and is appropriate for ages 0 through 42 months. The assessment consists of a questionnaire that is to be completed by the parent, caregiver or educator in order to help the practitioner come to an understanding about how the child utilizes all of his or her capacities to deal with feelings, meet needs, think, and communicate with others. The questionnaire contains 35 items that are ordered developmentally and according to the age at which the item is usually mastered. The items are rated utilizing a 5-point scale. This assessment is given as a preliminary step and is utilized for early identification of ASD. It may be utilized to determine if further assessment or a referral is needed and may also help in monitoring growth or in planning intervention [149]. Modified Checklist for Autism in Toddlers (M-CHAT): The M-CHAT is designed for children ages 16 through 30 months. This assessment is administered to assess a toddler s risk of development of ASD Nursece4less.com 63

64 and may be administered by parents, caregivers, or practitioners. The main fault of the M-CHAT is that it has a high rate of false positives; this stems from the fact that one of the main goals of the assessment is to maximize specificity. Therefore, not all children who score as being at risk for ASD will actually be diagnosed with ASD. To adequately address this issue, a structured follow-up interview should be conducted following the administration of this test [150]. Autism Spectrum Screening Questionnaire (ASSQ): The ASSQ is a 27-item checklist that may be completed by parents or caregivers that is designed to assess children ages 7 through 16. This assessment is designed to examine symptoms that are characteristic of high functioning ASD, such as Asperger syndrome, in those children who have either normal intelligence or mild mental disability [151]. Social Communication Questionnaire (SCQ): This assessment is designed to assess children ages 4 and older and is a cost effective way to screen for ASD, so long as the individual s mental age exceeds 2 years of age. The SCQ assists in evaluating communication skills as well as social functioning in those children who may have ASD. A parent or caregiver completes the assessment. This assessment may be completed under ten minutes. The SCQ is available in two formats Lifetime format and Current format. Each of these formats is composed of 40 yes or no questions. The Lifetime format focuses on the child s developmental history. The Current format moves from developmental history to the child s present status and examines the child s behavior over the most recent previous 3 months. The purpose of the Lifetime format is to aid in screening and referral. The purpose of the Current format is to aid in treatment planning, educational intervention, and to map and measure changes over time. The SCQ may also be utilized to compare symptoms across groups for example, to compare symptoms across groups of children with a variety of language disorders [152]. Nursece4less.com 64

65 ASD AND CO-MORBIDITIES Epilepsy ASD and epilepsy often co-occur. Approximately 30% of those children with autism have epilepsy, and approximately 30% of those children with epilepsy have autism [153]. When these two disorders co-occur they are often also associated with intellectual disability. While both ASD and epilepsy are considered heterogeneous disorders with multiple pathophysiologies and etiologies, there may still be some common underlying pathophysiological mechanisms that can help to explain why these two conditions frequently co-occur. For example, it has been proposed that both ASD and epilepsy are disorders of synaptic plasticity that result in excitation and inhibition imbalances in the developing brain. Synaptic plasticity refers to the process where synapses, which are the connections between two neurons, get strengthened through experience or practice. Synaptic plasticity relies on a variety of proteins whose genes are interrupted in certain genetic conditions that are associated with autism and epilepsy. Many of these conditions are also co-morbid with ASD and epilepsy and include such conditions as Rett Syndrome, Fragile X, and tuberous sclerosis [154]. The effect of seizures and epileptogenesis on the developing brain is important to understand. There are a number of possible effects of seizures and epileptogenesis on the developing brain on synaptic plasticity. Emerging evidence indicates that seizures that occur early on in life may alter the functioning of neurotransmitters and intrinsic neuronal properties of the brain, which may possibly contribute to cognitive impairments as well as learning impairments. Gamma-Aminobutyric acid (GABA) is the primary inhibitory neurotransmitter in the brain, and the GABA-A receptors are those that mediate most fast synaptic inhibition. Changes in inhibitory neurotransmission have been known to affect learning, a common difficulty seen in those with ASD [155, 156]. Changes in excitatory neurotransmission can also lead to behavioral or learning differences after seizures early in life. Nursece4less.com 65

66 Glutamate is the main excitatory neurotransmitter in the brain, whose activity is mediated by a number of receptor subtypes, including N-Methyl-D-aspartate (NMDA) and non-nmda, ionotropic receptors and metabotropic receptors. Excitatory signaling is critical for different types of long-term potentiation (LTP) and hippocampal learning. It has been found in some studies [157, 158] that mutant mice that lack subtypes of α-amino- 3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) or NMDA receptors have impaired learning. Further, changes in neuromodulatory pathways can also contribute to behavioral or learning differences following early-life seizures. Tuberous Sclerosis Tuberous sclerosis also frequently co-occurs with both ASD; a high co-occurrence is also seen with epilepsy. Tuberous sclerosis is a neurocutaneous disorder that is characterized by benign tumors and mental retardation, as well as epilepsy and autistic disorder. This syndrome results from mutations of tuberin or hamartin; together these inhibit the phosphatidyl inositol 3-kinase (PI3) signaling pathway involving the mammalian target of rapamycin (mtor) as well as a cascade of other downstream kinases that stimulate cell growth and proliferation, and protein translation [154]. Mutations of tuberin of hamartin in tuberous sclerosis lead to a hyperactivation of mtor and downstream signaling pathways, and results in increased cell growth and proliferation and abnormal gene expression. The precise mechanisms of ASD in tuberous sclerosis are not known at this time. However, it is believed that ASD may stem from persistent seizures that occur early in the development of certain regions of the brain, such as those responsible for social perception and communication, located in the left temporal lobe [159]. Further, alterations in expression of certain glutamate and GABA-A receptor subunit as well as decreases in glutamate transporter GLT-1 may help bring about imbalances in excitation and inhibition [160, 161]. Sensory Processing Disorder Unusual sensory processing has been reported in ASD [162]; however, most of the research has been focused on sensory processing disorders in children. Previous studies show that unusual sensory responses are present in most children who have ASD [163]; this has been identified since the earliest description of ASD [164]. These Nursece4less.com 66

67 sensory abnormalities have primarily been described in relation to vision, taste, sound, touch, and smell [165], to include hyper and hypo sensitivity as well as general sensitivity overload. Additionally, responses have been reported as early as 6 12 months of age and are considered one of the earliest indicators of ASD in young childhood. It is accurate that many individuals with ASD focus on details. One study indicates [166] that this particular trait may lie beneath stereotyped routines as well as repetitive interests and behaviors. The study examined 29 children who were diagnosed with either high functioning autistic disorder or Asperger syndrome who had completed the Embedded Figured Test (EFT). Parents or caregivers completed the Short Sensory Profile and Childhood Routines Inventory. The study found significant correlation between the degree of the amount of restricted and repetitive behaviour that was reported by parents or caregivers and the degree of sensory abnormalities. Another study that examine sensory processing in adults utilizing the Adult/Adolescent Sensory Profile (AASP) indicated that 94.4% of the participants being studied reported extreme levels of sensory processing [162] in at least one sensory quadrant of the profile. Further, analysis of the patterns of sensory processing impairments suggests that individuals with ASD may experience extremely different, although severe sensory processing abnormalities. It is important to note that sensory processing abnormalities in ASD extend across the lifespan; they are not simply present only in childhood. Therefore, it is essential that the practitioner treat these issues with care in both children and adults. Fragile X Syndrome Fragile X syndrome is considered the most frequent form of inherited mental retardation [154]. Further, those with Fragile X and ASD may have a significantly lower IQ than do those with Fragile X who do not have ASD. Fragile X frequently presents with ASD as well as epilepsy. A hallmark of Fragile X pathology is a hyperabundance of dendritic spines with long, thin and immature morphology [167, 168], and Fragile X is a result of an expanded triplet repeat in the FMR1 gene. Nursece4less.com 67

68 Fragile X is a genetic, and therefore medical, diagnosis. This is an important distinction from ASD, which is a behavioral diagnosis. However, when it is associated with Fragile X, autism is caused by the genetic changes in the Fragile X gene [169]. This may be compared to other genetic conditions such as Down syndrome; individuals with Down syndrome may have related conditions such as autism or hearing loss. If a child is first diagnosed with ASD and then subsequently diagnosed with Fragile X syndrome, it is considered that the cause of the ASD is known, the cause being Fragile X. It is estimated that between 15 33% of children who have Fragile X also have ASD [169]. Many of these children are considered high functioning, as while they do not meet the criteria for full autistic disorder, they do exhibit autistic like symptoms, such as social anxiety, poor eye contact, sensory issues, hand flapping, and shyness. ASD is more common in males with Fragile X than it is in girls with Fragile X. In comparison, it is estimated between 2 6% of children who have ASD also are diagnosed with Fragile X. This leads researchers to believe that all children with ASD, both male and female, should be genetically tested for Fragile X as well as other genetic causes of ASD. Anxiety Disorders The relationship between ASD and anxiety is not well understood at the moment. However, it is evident that anxiety is a big problem for a large number of those individuals who suffer from ASD. One review [170] estimates that comorbidity ranges from 11 84%. Certain variables have an influence on each individual s experience of anxiety; these include the type of ASD diagnosis, cognitive function, and level of social impairment. There are a number of questions about the presentation and the course of anxiety in children with ASD, as the development and the course of specific types of anxiety as seen in ASD patients is not well understood. While the presentation of anxiety in children with ASD is in some ways similar to the presentation in children without ASD, some studies [171] have found marked differences. For instance, phobias may be more common among younger children who have ASD, whereas disorders such as social phobia or OCD may be more common in adolescents with ASD. Nursece4less.com 68

69 It is also thought that anxiety symptoms are often overlooked or mislabeled in children with ASD, primarily because children with ASD frequently lack the ability to express themselves in an emotionally accurate way. Additionally, it is thought that children with ASD face unique and considerable challenges as they transition from childhood into adolescence, as difficulties with social interactions and an awareness that they are different from others may lead to problems with anxiety, depression, or hostility [172]. Also, for teens with ASD, the new environments and quickly changing routines that come with high school as well as hormonal and physical changes may prove to be overwhelming and lead to anxiety [170]. Therefore, it is essential to understand that anxiety in children and teens with ASD is not only unique but a constantly shifting and changing dynamic. Understanding this concept will allow for informed development of adequate treatment options. It is also essential to consider the degree to which anxiety in children who suffer from ASD affects relationships with parents and caregivers, as the quality of these relationships may in turn have an effect on the child s mood. For example, if the parent or caregiver of an ASD child handles anxiety in a positive and calm manner, the relationship may remain positive, lessening the child s overall anxiety as opposed to perpetuating it. In other words, there may be a bi-directional influence [172]. Treatment for children with both ASD and anxiety is woefully inadequate. Further research is needed in this area, in particular in such areas as adapting traditional approaches such as cognitive behavioral therapy (CBT) to ASD populations. Further, more thought should be put into the ways individuals with ASD think, behave, and feel in order to provide them with the very best and most effective treatment [173]. Of the treatments that are available, a multimodal approach is often considered the best approach, taking into consideration the child s learning style, as well as strengths and limitations. The multimodal approach would include such approaches as individual therapy, occupational therapy (for children with sensory sensitivities or sensory-seeking behavior), and school consultations (to add structure), just to name a few approaches. Medications can sometimes help alleviate severe anxiety as well as complement Nursece4less.com 69

70 therapy, although medications can affect the ASD brain differently than the normal brain. Parent education and parental support groups sometimes also help by providing a stable foundation for the anxious ASD child. One review maintains that issues with anxiety likely cause additional social and developmental impairment above and beyond the impairment caused by the core difficulties associated with ASD [170]. The review further points out that ASD conditions are lifelong conditions and that a large number of individuals with ASD will need psychiatric care as they progress toward adulthood. Therefore, the need for accurate diagnosis and treatment of psychiatric conditions in those individuals with ASD is essential. Parents and caregivers can assist in diagnosis by being observant of their child s behavior at home and school. For instance, the child may start to act out more at home or school, or may display an increase in repetitive behavior or restrict more. The child may not be able to report symptoms accurately or could deny feeling anxious, despite showing symptoms that clearly display a problem, so it is essential that practitioners instruct parents to be observant to behaviors that are normal or abnormal for their child, as a child with ASD may not have insight into his or her inner feelings or anxious thoughts. Intellectual Disorders Intellectual disorders and ASD co-occur at very high rates. It should also be noted that the greater the severity of one of these disorders, the more the effect there appears to be on the other [38]. Intellectual disorders (ID) present cognitive, social, and adaptive skills deficits. Also, ID is frequently accompanied by stereotyped and challenging behaviors, such as repetitive behaviors [174]. Comorbid psychopathologies of a number of types for example, depression, anxiety, or schizophrenia may also present themselves [175]. All of these issues may be problematic for both the individual suffering from ASD and the practitioner, and these issues can prove to be debilitating [176]. One study [177] speculates that a great deal of the recent advances in ASD treatment has been with people who have ASD and are intellectually normal. Further, they posit Nursece4less.com 70

71 that as a consequent, many of those individuals with ID may be overlooked. This is the case despite the fact that there is knowledge that ID co-occurs with ASD, and this knowledge has existed for several decades. It should be noted that those with co-occurrent ID and ASD have different needs than those individuals who simply have ID or ASD alone. There are therefore 3 distinct groups present: those with ID, those with ASD, and those with co-occurrent ID and ASD [178]. Currently, it is difficult to make a clear distinction between symptoms in these groups. More scale development is required to make this distinction easier. The combination of ASD and ID offers a number of challenges and deficits across a range of skills and behaviors that are not only seen in ASD or ID. For example, in individuals who had severe and profound ID with co-occurrent ASD, one study [179] found that these individuals had greater behaviorally based feeding issues, particularly where food refusal and selectivity were concerned, as compared to those individuals who had ID on its own. Challenging behaviors have also recently seen a great amount of increased study. For example, researchers have discovered that as IQ decreases, the severity of ASD and challenging behaviors increases, making ASD and ID major risk factors [180]. Murphy et al [39] discovered that severe IQ and ASD were correlated with higher rates of challenging behaviors, but these correlations were not across the board. In particular, self-injury was correlated to severity of autism [180]. For those children with autism, functional assessment for challenging behaviors indicated that these behaviors were maintained through escape or retention of tangible items. Those children who have co-occurrent ASD and ID do not tend to grow out of challenging behavior; rather, the challenging behaviors tend to persist of the life span with persons who have the highest rates of challenging behaviors early in life still having the highest rates of challenging behaviors later in life. Murphy et al [181] observed this to be the case in a study of 141 people who suffered severe ID and autistic disorder in a 12-year follow-up study. Practitioners should consider patterns of challenging behavior to be a high priority, as these problem behaviors occur at a very high rate. However, it is Nursece4less.com 71

72 important to note that there is still much to be learned. The available research on this topic is small at the moment but is promising. Attention deficit hyperactivity disorder (ADHD) Children who have ASD and ADHD have some of the same features, which may complicate diagnosis [183]. For example, both experience attention deficit and over activity, behavior problems, and social difficulties. Often, the child is simply diagnosed with ADHD and a diagnosis of ASD is missed. To further complicate matters, according to the DSM as well as the ICD-10, a diagnosis of either autism or Asperger syndrome automatically precludes a diagnosis of ADHD [184]. However, there is most certainly symptom overlap, as seen in population-based twin studies [185, 186] as well as a recent epidemiologically based study that reported a high rate of ADHD in autism and ASD [187]. In the DSM-V the diagnosis of ASD will no longer preclude a diagnosis of ADHD. It is estimated that there is an approximate 30% prevalence of ADHD in individuals with ASD. This is about 6 times higher than the prevalence of ADHD in children and adolescents worldwide [188]. Further, autistic-like symptoms in those with ADHD are higher than in children who are healthy [189]. These findings preclude a co-occurrence of the disorders by chance. There are risk factors for the development of the combination of ASD and ADHD. One risk factor is genetics. Both ASD and ADHD are highly heritable neurodevelopmental disorders. It is estimated that approximately 70 80% of the phenotypic variance of each of these disorders can be explained by genetic factors [190, 191]. Family studies indicated increased ASD-like symptoms in both affected and non-affected siblings of ADHD patients, which signifies a familiarity of the co-occurrence of ADHD and ASD symptoms [189]. Further, according to twin studies, which utilized questionnaire data on ASD and ADHD symptoms, approximately 50 70% of the co-variance of ASD and ADHD symptoms can be explained by shared genetic factors [185, 186]. Nursece4less.com 72

73 Non-genetic biologic factors also pose a risk. Some studies have started to focus on the relevance of environmental risk factors for both ASD and ADHD [191]. Some environmental biologic risk factors increase the risk of both ASD as well as ADHD, and this supports the thought that both of these disorders may be alternate manifestations of the same risk factors. Recent studies reported increased rates of ASD-like symptoms in 11 year old, previously pre-term children below 26 weeks of pregnancy [182]. This study was replicated in adults with ADHD [192]. Additionally, several risk factors related to pregnancy seemed to simultaneously increase the risk of ASD with a combined diagnosis of ADHD or ADHD symptoms, such as the use of valproic acid [193], maternal diabetes [194], pre-eclampsia [195], and viral or bacterial infections [196, 197] during pregnancy. The majority of these risk factors has only been examined recently and is not yet well replicated. Well-replicated factors that are specific to ADHD are pre-pregnancy obesity, which increases the risk of inattention symptoms [198], and smoking during pregnancy, which in particular is a risk factor for hyperactive and impulsive behavior. This risk factor also increases the risk of a comorbid conduct disorder with aggressive behavior in children who have ADHD [ ]. Smoking during pregnancy has been excluded as a risk factor for ASD however. For ASD, increase in paternal age has been shown to be a particular risk factor [202]. On the other side, younger maternal age seems to be a risk factor specific to ADHD [200]. The exact mechanism of how these risk factors influence the developing brain is not yet determined. Finally, non-genetic psychosocial factors pose a risk. For ASD, these factors have not yet been adequately defined, whereas for ADHD, several of these risk factors have been very strongly replicated in longitudinal studies. For example, an association exists between family conflicts and divorce, maternal depression, paternal antisocial personality disorder, and lowered familial socio-economic status with increased rates of ADHD as well as increased symptoms of inattentiveness and hyperactivity and impulsivity [200, 201]. Therefore, these risk factors appear to be specific to ADHD and may also increase ADHD symptomology in those children who suffer from ASD. Nursece4less.com 73

74 In regard to psychosocial risk, the relevance of psychosocial risk factors for comorbid ASD and ADHD has been indicated by population-based study, wherein a higher area of deprivation was a specific risk factor for co-occurring ADHD in children who have ASH [187]. In children with ADHD who also have increased ASD-like symptoms, family risk factors in one study were predictive of increased ASD-like symptoms [203], which indicates one of two things: either there is some relevance of psychosocial risk factors to ASD symptoms in general or there is the possibility that an increase in ASD symptoms in ADHD may represent a particular ADHD subtype but not the same disorder as ASD with no ADHD. Therefore, it may be concluded that there are overlapping factors at play that lead to the comorbid diagnosis of ASD and ADHD. In examining the new DSM-V rules that allow for a joint diagnosis of ASD and ADHD [204] the following are highlighted: Previous versions of the DSM forced practitioners to choose between a diagnosis of ASD or ADHD, which may have prevented those with both disorders from receiving the course of treatment they really needed. The DSM-V is going to allow for a dual diagnosis of ASD and ADHD. Practitioners will no longer have to qualify symptoms of one disorder or the other; for example, diagnosing an individual with ASD and calling his or her ADHD symptoms ADHD-like in order to offer treatment for ADHD. Under the new guidelines, practitioners will be able to directly analyze whether or not those with a primary diagnosis of ADHD and some ASD symptoms may benefit from the strategies designed for treating ASD, for example, social, speech, or occupational therapy. Also, on the other side of things, those who are diagnosed with ASD but show symptoms such as hyperactivity, inattentiveness, or impulsivity could benefit from treatment protocols designed to treat ADHD [205]. The new guidelines will allow practitioners to treat children with drugs such as Ritalin for conditions they can actually diagnose them with. Until now, Nursece4less.com 74

75 practitioners could not dual diagnose and prescriptions for ADHD medications for those who have ASD were prescribed as off-label medications being given for ADHD-like symptoms. In addition to the above a benefit may be seen in clinical studies. Studying those who have both ASD and ADHD may help researchers identify and design treatments specific to this group. MANAGEMENT AND PROGNOSIS Treatment Goals Lessen deficits Once the child has been diagnosed with ASD, the treatment program should begin at once. As indicated above, over the past 15 years there is evidence that has shown early intervention programs result in much improved outcomes, particularly when started in very young children. The reason for this is because a younger child s brain is more able to change [206]. However, there is really no single best program for children with ASD to lessen deficits. The key is to combine interventions, with the goal being to engage the child s unique combination of special interests in an effort to keep the child involved with tasks. Good behaviors should also be positively reinforced. One key factor to lessening deficits is parental involvement, which is instrumental to the success of treatment. Its important for parents to work side by side with practitioners in an effort to learn how therapeutic practices may be continued outside of a clinical setting. This is because parents are the child s primary teachers. Therefore, impressing on the parents how important it is that they remain active and involved in their child s care is crucial. Some common interdisciplinary approaches that are utilized to lessen deficits for individuals with ASD are listed and explained below: Nursece4less.com 75

76 Speech therapy: Speech therapy is conducted by a professionally trained speech therapist. This therapy involves a great deal more than just teaching a child how to speak. The therapist may work with the ASD individual on a number of skills, including skills such as: o Nonverbal language skills: Nonverbal language involves communication such as gestures, PECS (picture exchange communication system), electronic talking devices, or utilizing other alternative devices such as ipads or iphones. o Speech pragmatics: Speech pragmatics involves training regarding the suitable speech context. o Conversational skills: Speech therapists may instruct individuals with ASD on how to have a back and forth conversation. This is called joint attention. o Concept skills: A speech therapist may help an individual with ASD understand abstract ideas, as they relate to communication. Occupational Therapy: Occupational therapy helps those with ASD work on the basic personal and social skills that are necessary to live independently, as many individuals who suffer from ASD lack these skills. Some of the things that an occupational therapist may work on are: o Provide interventional therapy to assist a child in responding appropriately to information and stimuli that enters through the senses. Interventions may include brushing, playing in a ball pit, or other activities that are aimed at assisting the child who suffers from ASD to better manage how their body operates in space. o Facilitates play activities that offer instruction as well as assist in teaching a child in interaction and communication with other people. For an Nursece4less.com 76

77 occupational therapist who specializes in treating those with ASD, this may mean designing specific structured play therapies, for example, Floortime, that are developed to building emotional, intellectual, and physical skills. o Comes up with strategies to assist the child with transitioning from one type of setting to another and from one person to another, as well as from one phase of life to another. For the child who has ASD, this may involve self-soothing strategies to manage transitions from home to school; for adults with the condition it could involve learning vocational skills. o Develops adaptive strategies and techniques to maneuver around disabilities. One example of this would be teaching the individual typing should he or she find handwriting too difficult. Behavioral Therapy: Amongst those behavioral therapies that are most effective for working with children who suffer from ASD are the kinds that engage a child s intrinsic motivation to learn. This type of motivation utilizes the child s inner interest in a topic to encourage the individual to seek more and more knowledge in that particular area. Behavioral therapists who utilize intrinsic motivators may use a child s interest in dinosaurs, for example, to create a story that includes dinosaurs as the main topic of the story, making learning a reward of the story. Two of the most frequently used behavioral play therapy interventions utilized with children who have ASD are Floortime and Relationship Development Integration (RDI). These are therapies that assist the child in integrating emotional, intellectual, and social capabilities, as opposed to simply focusing on skills or isolated behaviors. Both of these types of therapies allow for the individual s particular interests in order to encourage learning and to engage the child in their own physical environment as well as at their current level of cognitive and emotional development. Nursece4less.com 77

78 Another therapy that is frequently utilized, and is considered the gold standard of behavioral therapy, is Applied Behavioral Analysis (ABA). This behavioral therapy is a technique that is utilized to reduce inappropriate behavior while increasing communication and increasing appropriate social behaviors. ABA frequently utilizes confrontational techniques as well as punishment (i.e. time outs from preferred objects or activities, or removal of a token) in attempts to decrease behaviors that are unwanted. Many psychologists and therapists who work with those who have ASD utilize ABA, making this the most likely therapy to be utilized in most schools and clinical settings. Social Skills Training: Social skills therapists are psychologists, social workers, occupational therapists, or speech and language therapists whose specialty is working with those who have ASD. Drama therapists may also teach social skills by working with those with ASD through scripted scenarios or through improving or critiquing practiced interactions. In school settings, social skills therapy can consist of group activities with those with ASD and those who are not affected. These activities are generally games and conversation. These activities are generally overseen by social workers or school psychologists, and can be held in the classroom, playground, or lunchroom. Social skills groups held at school generally focus on game playing, conversation, or sharing. Groups that are held outside of school may have a similar style, but are often paid for privately. Children may be grouped by similar age and ability, and they make use of a particular social skill curriculum that is developed by trained practitioners in social skills therapy. Social skills therapy that is effective provides those with ASD the opportunity to share, play, converse, and work with their nonaffected peers. Nursece4less.com 78

79 Dietary Interventions: ASD is sometimes caused by a genetic predisposition that is combined with an environmental trigger. It is thought that this trigger may be a sensitivity to a particular food that the individual with ASD consumes on a regular basis, such as gluten, casein, corn, nightshade vegetables such as tomatoes or potatoes, soy, or food dyes or preservatives. The individual must be given an IgG food sensitivity test to determine food sensitivities. This is a blood test that is given by a food allergist. The recommended treatment for food sensitivities is to cease consumption of the food that the individual is reacting to, commonly termed a food exclusion diet. Many parents indicate that their child with ASD became less moody and better behaved as well as less sensitive to light, sound and touch upon adoption of the food exclusion diet. Lessen family stress For many families, the stress of ASD whether the diagnosis comes earlier or later starts immediately. There is no aspect of family functioning that is not affected, from having to cope with the affected child s temper tantrums to dealing with the financial burden ASD brings or the social isolation that frequently results. Research conducted by the Interactive Autism Network (IAN) [207] examined the many aspects of stress that families experience as well as the responses to stress and the feelings that result. Families answered questionnaires that gauged stress on several measures. Fathers reported slightly lower overall stress levels than did mothers. The first aspect assessed was child behaviors. Parents were asked in the Parental Depression History Questionnaire to determine to what extent their child s challenging behaviors had a detrimental impact on their lives. Seventy-two percent of participants indicated that challenging behaviors had a moderate or great detrimental impact on their lives. Two of the most frequently mentioned contributors of stress that were associated with challenging behaviors were meltdowns and aggression. Both of these behaviors Nursece4less.com 79

80 required the parent to be hyper-vigilant and made interaction with the world at large difficult. One of the greatest consequences of challenging behaviors was social isolation for the whole family. Additionally, parental self-esteem suffered as a result of the child s challenging behaviors. Another aspect assessed was sleep disruption. Parents of children with ASD indicate that they do not sleep as long and often have sleep that is poorer in quality when compared to parents of other children, including those who are parents of children with other types of disabilities [208, 209]. One study that was conducted in Philadelphia stated that the accumulated poor sleep quality and shorter sleep duration contributes to the stress of raising a child who suffers from ASD [210]. Children with ASD do themselves have unusual sleep patterns, including a refusal to sleep, awakening in the middle of the night, and prolonged rituals at bedtime. Forty-eight percent of parents indicated that they experienced exhaustion as a result of these sorts of issues, and that these issues had a moderate or great deal of impact on their stress level. One other aspect that was assessed involved issues with treatment. A great number of children with ASD need therapy for issues that are associated not only with ASD but also with other co-occurring conditions, such as ADHD, depression, or anxiety. It may cause extreme stress on the parent or caregiver to have to obtain and manage multiple treatments, which may include physical, speech and language therapy, occupational therapy, social skills therapy, medication, and ABA, just to name a few. Additionally, all of these therapies can put a financial burden on the family in addition to placing a logistical burden on the person coordinating the therapy [211]. Further, many parents and caregivers feel that they are largely unsupported in seeking and obtaining adequate treatment for their child, and that quality treatment options are not always readily available. This adds to the stress of obtaining treatment. In the aforementioned study, nearly 70% of participants indicated that managing multiple therapies, including attempting to obtain treatment either on their own or through insurance created a moderate or great negative impact. Treatments may also prove to be disappointing, and it can prove stressful when the family has invested their Nursece4less.com 80

81 time, energy, and money in a treatment option that has not been fruitful. Forty-six percent of participants indicated that disappointments in treatment outcomes have had a moderate to great negative impact on their lives. Another aspect that was assessed was child setbacks. Parents and caregivers can find child setbacks very disheartening, particularly because they help their children to work so hard to make progress. The IAN research determined two categories into which setbacks fell: 1) classic regression, in which the child acquired a skill and then lost that skill, and; 2) more general setbacks wherein new negative behavior emerged. More than 70% of respondents indicated that there was a moderate or great deal of negative impact when the child experienced a major problem or reversal in progress at school or in some other area of life [207]. In other words, setbacks were highly stressful. Some parents even reported feeling traumatized by the setback experience. One other aspect that was assessed was parental worry about the future. Parents worry about a number of different factors pertaining to their ASD child s future. For example, when the child is young, the parent worries about whether or not the child will be bullied in the future. As the child grows up, the parent starts to worry about such things as independent living and employment prospects. Parents also worry about how other family members will fare. Eighty-nine percent of study respondents indicate that stress over worrying about the future has a moderate or great negative impact on their lives, with some respondents indicating that this is an issue they think about every single day. Despite this stress, many parents and caregivers indicate that they have feelings of hope for their children. Another aspect that was assessed was the impact on career and continuing education. Participants were asked, What impact, if any, has raising a child with an ASD had on your own career or continuing education? [212] Mothers and fathers answered this question differently. Fathers felt more often than mothers did that there had been no impact on their education or career, with 44% versus 28%. While many fathers reported that there was a negative impact (46%), more mothers reported that there was a Nursece4less.com 81

82 negative impact (59%). Researchers believe that the reason for this may be because women are more likely to stay home with children than are men. Studies show that gender roles are more likely to become more traditional after men and women make the transition to parenthood [213, 214]. Mothers take on the bulk share of the domestic duties, even if they work outside the home [215]. Additionally, there is still a disparity in pay between what men earn and what women earn [216, 217]. Therefore, women end up more often than men being titled the homemaker. Also, many women plan on returning to work after having the child, but may not be able to because the child has extensive needs. Those women who were planning to return to work may have discovered that having a child with ASD meant missing work or performing below the standards they had set for themselves, resulting in a negative impact on their careers. Many parents reported that challenging child behaviors were one of the major problems standing in the way to fully achieving at work these led to phone calls from schools or care centers that interrupted the work day and contributed to stress at the job. Additionally, childcare was often an issue. Many parents had issues finding or maintaining consistent childcare options for their child. These issues often interfered with work, leading to the parent having difficulty or inability in holding down a job. In one study that compared families of children with ASD to families of children who were not affected, parents of children with ASD were nearly 7 times more likely to leave a job as a result of issues with child care than were parents of children who were not affected [218]. In addition, in another study conducted by the University of Rochester, researchers indicated that 39% of parents of those with ASD stated that they had quit a job, changed a job, or not accepted a job as a result of childcare issues that were related to having a child who suffered from ASD this is more than 4 times the 9% that is reported by families who are raising a child who is not affected [219]. However, not all parents indicate that raising a child with ASD has had a negative impact. Nine percent of fathers and 13% of mothers indicate that raising a child with ASD has had a positive impact on Nursece4less.com 82

83 their education or career. This did vary somewhat dependent on the parent s level of education. A number of these individuals had simply found new careers, many of them in areas such as autism advocacy, ABA, social work, special education, or a related field. One other question asked parents in the IAN research related to the impact, if any, that raising a child with an ASD had on their financial situation; nearly 80% of participants indicated that the impact was a negative one. One reason for the negative impact was that many parents were required to cut back on or change employment. Additionally, the cost of evaluation, treatment, and therapies adds up quickly and can create financial hardship. Expenses can be of all kinds, and can include various types of therapies. [212] Average per year expenditures for different ASD diagnoses. Many parents reported feeling desperate, with adequate treatment options always feeling just out of reach. A negative impact was reported by parents of children with every type of ASD, with 75% of those parents of children suffering from Asperger syndrome, 78% of those parents of children suffering from PDD-NOS, and 80% of those parents of children suffering from autistic disorder reporting negative impact. For many parents, immediate needs are pressing, and adding to the stress and negative impact is the constant worry of how to pay for future needs. Another area assessed was how friendships and social networks are impacted, with nearly 60% of participants indicating that having a child with ASD had a negative impact Nursece4less.com 83

84 on friendships and social networks [221]. Many parents mentioned that getting out into the social world at large at all could be difficult, in particular if their child suffered from temper tantrums or from meltdowns, as these tended to draw negative reactions from other people, particularly strangers. This is particularly true because children with ASD often appear to be physically fine, unlike many other children with mental or physical disabilities, making it appear as though the child is simply acting out. This means that others may be less understanding about what the parent must deal with when the child acts out, and that the child s challenges may be attributed to lax parenting as opposed to an actual disability. Further to the above, parents indicated that it is not only strangers that make socializing difficult; parents conveyed that they have sometimes been asked to leave organizations such as playgroups or churches as a result of their child s challenges. Therefore, it is no surprise that feelings such as loneliness or isolation are common amongst those parents who have children who suffer from ASD. These parents tend to begin to avoid social situations. In fact, a study indicated that families with children ages 3 5 who have ASD were 70% less likely to attend church services as compared with children who have ADHD or were not affected [222]. Another study that focused on quality of life with families who have children with disabilities indicated that those parents who have children with ASD had more difficulty with social relationships than did parents of children who had cerebral palsy or mental retardation or parents of children who were not affected [222]. Further, in a Canadian study where parents were interviewed regarding their experience raising a child with ASD, many described that they were made to live in a world of their own, or a world that was isolated [223]. Some of the parents interviewed for the IAN research indicated that they themselves exhibited ASD-like traits, for example, social anxiety [ ]. This made the social situation even more difficult for these parents, as they started the situation feeling socially awkward and then found the situation compounded by their child s challenges. Parents also found that friendships, which they had enjoyed previous to having a child with ASD, were strained upon having to care for their child s challenges. Basically, the majority of participants in the IAN study indicated that having a child with ASD is a Nursece4less.com 84

85 situation that reveals who one s true friends are, and while they often found new friendships, often with those experiencing the same hardships, they also lost friendships they had previously valued. Relationships with extended family also suffered. Forty three percent of fathers and 50% of mothers responding to the IAN research indicated that raising a child with ASD had a negative impact on their relationships with their extended family. For many of the families, the impact was mixed, with many relatives in denial or dismissive of the ASD child s diagnosis. Other relatives were helpful or supportive. Still, an ASD diagnosis may bring barriers to the typical family interaction, as a child with ASD may have unusual needs that a non-affected child may not have, such as a particular need for quiet or routine. This can make events such as birthdays or weddings particularly trying or isolating for family members who must care for the child who has ASD, not to mention exhausting, as some participants indicated. Some study participants indicated that they avoided family functions to avoid the accompanying stress. Others indicated that they avoided events to avoid the accompanying critical remarks made by other family members who did not believe the child had ASD. However, stress with extended family was not without its positive aspects. Participants indicated that stress helped them focus on who the real supporters in their journey were and avoid those who would be critical and negative to progress. The relationship between the parents/caregivers was also researched. Parents who are raising a child with ASD face challenges that are in addition to balancing work and family demands, paying bills, and doing chores. These families must also cope with additional tasks to manage their child, for example, they must investigate treatments, find providers, wrangle with insurance providers, shuttle their child to appointments, and prepare for Individualized Education Plan (IEP) meetings. Additionally, there is also an emotional toll that is exacted on the couple once they learn that their child has ASD. How the couple adapts and copes has implications for the ongoing health of their relationship. Participants in the IAN research indicated that 60% of mothers and 54% of Nursece4less.com 85

86 fathers stated that raising a child with ASD had a somewhat or very negative impact on their relationship with each other. However, despite this research finding, couples raising a child who is suffering from ASD are not all that different from those couples who are raising an unaffected child when it comes to respect for partner, commitment, or support [227]. There also is no support for the previously reported 80% divorce rate of 80% for those families who have a child suffering from ASD [228, 229]. One study that examined the divorce rates for families with children who suffered from a number of disabilities indicated an average increased rate of 5.97% over the rate of couples for non-affected children [230]. Researchers have reported a number of different areas of marriage difficulty for parents with a child with ASD. One study of couples that were raising children with ASD indicated that these couples experienced lower relationship satisfaction and less social support than did parents of children who were not affected [231]. Another study that examined families of children with developmental disabilities, mental health problems, or no issues over a number of years to determine adaptation and coping mechanisms found that parents with developmental challenges themselves had lower instances of employment as well as social participation. However, these parents were the same as the parents without developmental challenges when it came to such factors as physical health, psychological health, and marital status. Those parents who had a child with a mental health issue fared a bit worse. They were also the same as the normal parents when it came to marital status; however, they experienced a greater instance of depression and physical issues [232]. Such a research study is particularly important to pay note to, because many children with ASD also have mental health issues [ ]. One issue that couples frequently mentioned was a lack of time together or being too exhausted to make time together. Additionally, marital conflicts often arose from such issues as division of labor, or if one of the two parents remained in denial of the child s diagnosis of ASD. It should be noted though, that a conflict over division of labor in the household might occur even amongst those couples that have a non-affected child [236]; the issue only becomes more difficult to navigate when a child with a disability is involved. Gender differences may contribute Nursece4less.com 86

87 in how division of labor occurs, as many men see care of the child as the mother s purview. Some participants in the IAN research were deeply involved in meeting their child s needs; however, many others were not, and the most common strategy employed by fathers in dealing with their child s ASD needs and a source of stress on the couple was avoidance [237]. Conflict and stress need not result in tragedy, however; families, as it turns out, can be extremely resilient [238, 239]. Families may discover many positive aspects to having a child with ASD, such as finding pleasure in caring for the child, finding a sense of accomplishment in progress the child makes, coming to a sense that the marriage and family has been strengthened by what the family unit has gone through as a whole as a result of the diagnosis, and increased spirituality. Families may also gain a new perspective on what is truly important about life. One last important grouping of note is siblings of those with ASD. Raising a child who suffers from ASD places a high demand on the time and resources of parents not only as individuals but also on the family as a whole. Oftentimes, other members of the family do not get their needs attended to in the same way that the ASD individual gets his or her needs attended to. Many parents feel that even as they are giving their all in caring for the child who suffers from ASD, they struggle in caring for the rest of their family as well as caring for themselves the feeling is compared to putting the rest of life on hold while they care for the autistic individual. What results is a constant tension between the needs of the child with ASD and the needs of the other family members. While research indicates that the majority of siblings of those who have ASD cope well with having an autistic brother or sister, these individuals still encounter specific challenges as they learn how they must deal with having a sibling with ASD. Some of the top sources of stress for siblings are covered below, and these include [240]: Embarrassments around their peers as well as jealousy regarding the amount of time parents spend with the child with ASD. Feelings of frustration over not being able to get a response or engage with the child with ASD. Nursece4less.com 87

88 Being the target of aggression. An attempt to make up for the deficits the child with ASD suffers. Feelings of concern regarding parental stress or grief. Feelings of concern regarding their own role for caregiving in the future. There are things that parents and practitioners as well can do to help siblings understand ASD, as well as to help improve sibling interaction and to ensure that all children in the family feel loved and attended to. First, ASD must be explained to children early and often, and the information should be given to them in ways that is appropriate to their developmental age and level of understanding. For example, preschool age children may need an explanation that will help them comprehend how the behavior concerns them: saying that the child with ASD doesn t talk is an appropriate way to explain this. An older child may want an explanation that is more interpersonal in nature, for example, an explanation of how to explain autism to his or her friends. The role is to listen carefully and pay attention to the unique needs and concerns of the child at every age, adjusting explanations to fit those needs and concerns. Additionally, explanations need to be offered again and again. Offering constant opportunities for education allow the sibling repeated chances to have open conversations where questions and concerns may be raised. A parent, caregiver, or practitioner may conduct these conversations. Secondly, parents and caregivers should work to help their children form a bond with each other. This is difficult because of the nature of ASD. Many siblings become discouraged at forming bonds with their ASD siblings; however, they can often be taught simple skills that will help them engage with their sibling who is suffering from ASD. Some of these skills include ensuring that the sibling has the ASD child s attention, offering simple instructions, and praising good play. Thirdly, to help alleviate sibling stress, it is important to teach parents that they must make family time special for all family members. Parents frequently work very hard to Nursece4less.com 88

89 make certain that the individual with ASD is fully integrated into family life, but they work less hard to make certain that this is the case for the other children. One way families can make certain the non-affected children feel special is by setting aside time for nonaffected children that is separate from time spent together as a family unit. Fourth, it is important for parents to recognize that being the sibling of a child with ASD does not end when the sibling reaches adulthood. The sibling of a child with ASD is a lifelong commitment, just as being the parent of a child with ASD is. Therefore, practitioners should prepare parents for how to address sibling concerns as siblings enter early adulthood. For example, young adults may be concerned about the genetics of ASD and whether or not there is a chance that they themselves may have a child with ASD. They may also be concerned about whether or not they will end up taking care of their ASD sibling as he or she ages, particularly when questions of parental aging are also involved. All of these questions can create stress, but this stress can be adequately managed by having open and consistent conversations, as siblings grow older. While it is true that growing up the sibling of an individual with ASD can by challenging, most siblings handle the challenge very well. Applied Behavior Analysis Applied Behavior Analysis (ABA) is the design, implementation, and evaluation of modification of the individual s environment in order to produce a socially significant improvement in the individual s behavior [241]. ABA includes the usage of direct observation and measurements as well as the functional analysis of the relationship between environment and behavior. ABA utilizes changes in environmental events to produce both practical and significant changes in the individual s behavior. These environmental events are generally identified through a number of specialized assessment methods. ABA is based on the idea that the individual s behavior is determined by both the past and current environmental events that are in play with certain organic variables, such as Nursece4less.com 89

90 genetics, as well as ongoing physiological changes. The focus of ABA is on treating behavioral difficulties by changing the environment as opposed to focusing on variables that are beyond the direct control of the practitioner. ABA is considered the standard of care for treatment of ASD [241]. Contributions made by ABA to people who have ASD have been studied; ASD has previously been considered to be a disorder that has been associated with a poor prognosis, with only 50% of those individuals affected expected to develop spoken language skills [242]. Behavioral intervention has been shown to be the most effective method at addressing the needs of those who have ASD [243]. One early behavioral intervention study that was conducted by Lovaas in 1987 discovered that 40 hours per week of early intensive behavioral intervention (EIBI) that involved a curriculum that emphasized language skills as well as intensively applied behavioral procedures, resulted in nearly 50% of participants achieving IQs in excess of 100. Participants also greatly improved their social development and were able to successfully mainstream. This study is considered monumental in this area of research, as it was the first in history to produce such incredibly encouraging outcomes for those with autism. The gains produced in this study were replicated and maintained through several follow-up studies. To determine if the gains that were shown in the Lovaas study could be maintained over an extended time period, McEachin, Smith, and Lovaas [244] conducted a longer-term study of the same children by studying intelligence and adaptive function 4.5 years later. Results indicated that the outcome of EIBI was better in relation to gains made by a control group that received minimal treatment. Sallows and Graupner [245] provided further validation of the results through a four-year long-term study that demonstrated a replication of the EIBI success when parent directed and intensive treatment was utilized. The Lovaas study [246] was met with methodological criticism, however, one criticism of which was that it lacked randomization. Others have made efforts to replicate the findings of this study while addressing the problems of randomization. Smith, Groen, and Wynn [247] published the first randomized study that evaluated less Nursece4less.com 90

91 intensive treatment at 20 hours per week; results indicated that even when it was delivered with less intensity, EIBI showed improvement over parent training on its own. Although a dose effect, indicated by Smith et al [248], had been raised there was a question that remained about a need for adherence to the ABA principles, as to whether intensity alone was a significant variable. Studies that followed worked to validate the necessity to adhere to ABA versus more eclectic approaches that may be more common in the early intervention programs. One study [249] validated Lovaas style of EIBI in those children of autism who received Lovaas style of treatment for a period of one year. The participants in the treatment possessed superior skills as compared with a control group who had received more eclectic procedures that were considered generally well regarded. The group that received the Lovaas treatment showed gains that were evident in areas of language, intelligence, and adaptive behavior. These findings were later supported in a study by Howard et al [250], which indicated that classic eclectic approaches did not produce the same type of favorable results that the Lovaas method resulted in. Even though the Lovaas method proved to be remarkably successful, there has always been a focus on improving the quality of treatment methods. Additionally, ABA practitioners criticized the Lovaas method of EIBI because it did not utilize B.F. Skinner s (a psychologist that studied human behavior and language) analysis of verbal behavior [251]. There are two examples of efforts that did utilize Skinner s analysis, in Bondy and Frost s [252] and Partington and Sundberg s [253] research. These efforts resulted in the development of technology as well as teaching procedures that include the Picture Exchange Communication System [254] and a treatment pack referred to as the Applied Verbal Behavior pack [255]. It does still remain unclear whether or not approaches that are based on Skinner s analysis of verbal behavior are superior to the Lovaas method. However, regardless of whether this is the case or not, ABA treatments of all types assist individuals with ASD in living more fulfilling lives. ABA is a wonderful treatment for people with autism. It also is true that people with ASD have been good for ABA, as elaborated on below. Nursece4less.com 91

92 How have individuals with ASD contributed to ABA and to Society? Those who have received ABA as well as parents and caregivers who are advocates have made great strides in efforts to provide those who need this valuable therapy with behavioral intervention in both home and school environments. Efforts to bring ABA into these environments have had many favorable impacts on education of those with ASD as well as on the image of ABA. Improving the image of behaviorism is important, as there have been common misconceptions and contentions that misrepresent the significance and achievements of behaviorism. B.F. Skinner himself identified 20 such contentions [251], which ranged from the idea that behaviorism ignores the idea of conscious and feelings or states of mind, the thought the behaviorism formulates behavior as a set of responses to stimuli that are limited to the prediction and control of behavior that basically present the person as a machine or robot, the idea that behaviorism works with animals but not people, the notion that behaviorism is dehumanizing and confined to a laboratory setting instead of being applicable to real life, and the thought that behaviorism is more concerned with general principles instead of being focused on the uniqueness of each individual. All of these ideas are damaging, but as more individuals have become consumers of ABA, ABA s image as a discipline has been improved, and its practitioners have come to be seen as effective and humane teachers. This is one contribution that the ASD world has made to ABA. Another way in which those with ASD have helped the world of ABA is by permitting practitioners to understand whether or not Skinner s analysis of verbal behavior is valid and practical. Dixon et al [256] indicate that Skinner s analysis offered the first overall accounting of language acquisition from a naturalistic perspective [242] and also made a conceptual and empirical contribution to ABA that is enduring. Children with ASD have also shown the importance of early intervention methods such as the Lovaas method. Methods such as EIBI may accelerate the learning process in all children, including those without ASD. For example, if one considers the history of those children who have been labeled as geniuses, such as Mozart, one may be struck by the Nursece4less.com 92

93 fact that these individuals are often the beneficiaries of large amounts of early training [242]. Since methods such as EIBI benefit those with ASD so greatly, they may also benefit those in other populations, such as those with Down syndrome, fetal alcohol syndrome, and even those who are not disabled. ABA has a history of focusing on addressing serious problems that affect those who have severe disabilities [257] and have majorly benefited those who have ASD. While ABA has not been integrated into mainstream science and remains in a niche in the special education system, there is no denying the benefits it has produced for those who suffer from ASD. Structured Teaching Those who suffer from ASD thrive best in very well organized and highly structured environments. Structured environments are considered those that promote a clear understanding of schedules, activities, and expectations not just for the individual who suffers from ASD but also for their caregivers and teachers. Specifically, the structured environment allows the individual with ASD to [258]: Understand and predict what is going on in the environment around them Predict what is expected of them Acquire new skills Generalize the skills they acquire from one setting to another [259] Structured teaching is generally a visually-based approach designed to create a structured environment that will in turn support individuals with ASD in a number of educational, community, and home or living environments [260]. The goal of structured teaching is to create this environment that promotes independence and ultimately a decreased need for caregiver support through incorporating an increased understanding of the characteristics of ASD and the strengths and interests of the individual [260]. External organization and visual support serves as the basis for intervention in the structured environment. Structured teaching has certain specific components, and these are outlined below: Nursece4less.com 93

94 Physical organization and visual boundaries: This is the usage of visual supports such as furniture, labels, icons, and so on to make the learning environment more comprehensible and manageable to the individual. An environment that is physically organized clearly indicates the types of activities that occurs in each area; this helps promote increased understanding and attention to each task. Visual boundaries help students understand the rules of the space, the specific types of activities they should complete in each space, as well as the behavioral expectations of each space. Schedules: Visual schedules offer a visual representation of planned activities in the order in which they will occur utilizing symbols, pictures, words, photos, icons, or even actual objects. Routines: Routines, when combined with visual schedules, help by assisting individuals with understanding their environment and becoming more flexible. Predictable routines serve as another form of structure, meaning that students with ASD experience decreased anxiety in routine situations. When their anxiety is lowered, students frequently demonstrate increased attention to tasks. In addition, once an individual with ASD learns the routine, he or she will increase in independence. The primary goal of routines is to offer a framework for activities that will occur within the individual s schedule. Once the framework is established, the specific context details may continually change [260]. For instance, once an individual understands the basic routine of their language arts lessons, the teacher may change the specific content. Since the individual with ASD may have difficulty paying attention, it is often helpful to provide each individual with his or her own set of directions. An individual schedule placed into the individual s agenda will increase the individual s chances of success in following a schedule or directions. Nursece4less.com 94

95 When routine is consistent and expectations are made clear, independence is increased and level of learning is often higher. Work systems: Work systems are sequences that are visually structured and provide opportunities to practice skills, activities, or concepts that have been previously taught. The key here is that these are visually structured to increase independence. Task organization: Visually structured tasks are highly incorporated and organized visual instructions. These structured activities clearly indicate what activity the individual should complete, the steps for completing the task, as well as the important and essential features of the task. Tasks are selected based on assessment information utilizing emerging skills. Tasks are developed so that the person utilizing the system knows what to do simply by looking at the materials and the design. There may be a picture or written instructions. Also, limiting the work area by utilizing a box tray or folder assists the individual with ASD in knowing what to focus on in a particular task. It is important to make certain that all materials are secure; this lessens frustration. To know what is important, the task may have highlighting in certain important parts, a limited number of items, be color coded, or labeled. There are several ways to create highly organized learning environments; these should all be adapted to meet the needs of the individual suffering from ASD. These include: Paying attention to individual consideration: a. Consider the interests, strengths and needs of the individuals in the particular setting at hand b. Consider safety issues Designing the physical space and developing the visual boundaries: a. Link the physical set up to the needs of the individuals in that particular setting Nursece4less.com 95

96 Developing the schedules Creating the work system Organizing the tasks a. Choose the tasks based on an assessment of the individual b. Design the tasks to indicate direction Implementing and monitoring progress a. Make sure to teach the particular steps of the system. Utilize strategies such as prompting, modeling, and reinforcement in the teaching process. b. Make sure to collect data on each individual s ability to remain actively engaged in the environment. Structured teaching may be used in any setting or may be utilized to support any individual with ASD. Further, any caregiver, educator, or practitioner, may use the principles of structured teaching to support an individual suffering from ASD. These strategies may be used at home, in educational environments, and in community living settings, as well as to promote success at work. Speech and Language Therapy Most ASD behavior intensive therapy programs include a speech-language component. This is because many individuals with ASD experience language difficulties. With a number of techniques, speech-language therapy addresses a number of challenges faced by those individuals who suffer ASD. For example, some individuals who suffer ASD do not speak, while others enjoy speaking but have problems utilizing conversational speech or even understanding language or nonverbal cues when others are speaking. Speech-language therapy is made to coordinate with the mechanics of speech as well as with the meaning and social usage of language. Speech-language therapy programs start with an individual evaluation by a speech-language therapist to assess the individual s verbal aptitude and to determine where the individual may be challenged. From this evaluation, the therapist then sets goals based on the individual s challenge Nursece4less.com 96

97 areas. In every case, the goal is to assist the person in communication in more effective ways. Even if a person is nonverbal, they can benefit from the skills of a speech-language therapist. These individuals may benefit from augmentative and alternative communicative (AAC) devices or methods. The Picture Exchange and Communication System (PECS) is one of the most commonly utilized methods with children or adults who have little or no verbal language skills. This method allows children or adults with ASD to develop a vocabulary through which they may articulate desires, observations, or feelings. This system may be taught and utilized at home, in classrooms, or in a number of other settings. Augmentative and Alternative Communication At the beginning of the PECS program, the instructor teaches the individual to exchange a photo for the object for example, the adult would exchange the picture of the apple for the apple itself. With further instruction, the individual then learns to distinguish pictures as well as symbols and utilizes them to form sentences. Even though PECS is a visually based system, the program reinforces and emphasizes verbal communications. Caregivers may purchase standard PECS systems as part of a manual or put together their own by gathering photos from everyday sources, for example, magazines, newspapers, and books. [261] Other augmentative and alternative communicative devices include devices that may be specially programmed, such as ipads and iphones. A speech-language therapist may provide therapy in a one on one setting, in small groups or in a classroom setting. Nursece4less.com 97