Autism Spectrum Disorders Part 1 Characteristics of ASD INTRODUCTION

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1 Autism Spectrum Disorders Part 1 Characteristics of ASD 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 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 1

2 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 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] ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 2

3 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 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 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 3

4 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]. 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. ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 4

5 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 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 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 5

6 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. 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: ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 6

7 This involves approximately 25% of those with PDD-NOS; and, these individuals generally have symptoms that resemble those with autistic disorder. 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 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 7

8 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 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. ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 8

9 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 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 12 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 9

10 18 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 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. ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 10

11 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. 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. ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 11

12 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. 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 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 12

13 the development of ASD, and there is no way to currently test for the genetic predisposition toward ASD. 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. ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 13

14 This may be one of the causes of the social problems that children with ASD experience. 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 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 14

15 presents with certain distinct characteristics such as a long face, larger ears, and flexible joints. 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 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 15

16 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. 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: ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 16

17 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. 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 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 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 17

18 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. 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 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 18

19 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 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. ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 19

20 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. 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 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 20

21 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 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 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 21

22 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. Children with cognitive delay often present with other delays as well. They also miss general developmental milestones, particularly the following [26]: ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 22

23 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. Keeping in mind that medication may affect the ASD child in unpredictable ways allows for customization of treatment protocol. ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 23

24 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 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 ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com ce4less.com 24