Course Abstract: Learning Outcomes: As a result of taking this course, participant will be able to:

Transcription

1 Title of Course: Autism Subtypes, Feeding Issues & Nutrition Considerations CE Credit: 3 Hours Learning Level: Intermediate Authors: Catherine Christie, PhD, RD; Leo Christie, PhD, LMFT; Gina Ulery, MS, RD Course Abstract: The purpose of this course is to detail the symptoms and subtypes of Autism Spectrum Disorders (ASD), describe developmental and behavioral issues, outline assessment and diagnostic considerations, and briefly scan the literature on the efficacy of various treatment approaches. It will also outline common GI problems and feeding difficulties in autism, exploring the empirical data and/or lack thereof regarding any links between GI disorders and autism. Sections on feeding difficulties offer interventions and behavior change techniques. A final section on nutritional considerations discusses unusual food preferences or sensitivities, growth and weight concerns, and food allergies and sensitivities with an objective look at the science and theory behind a variety of nutrition interventions. Learning Outcomes: As a result of taking this course, participant will be able to: 1. Distinguish among autism, Asperger syndrome, and pervasive developmental disorder-not otherwise specified (PDD-NOS) 2. List the 3 core features of autism spectrum disorders (ASD) 3. Identify 3 major approaches used in social communication training for ASD 4. Describe 3 GI problems that may occur in children with ASD 5. Identify 3 strategies for dealing with feeding problems in children with ASD 6. Describe 2 dietary treatments often recommended for children with ASD 7. List 3 reasons why children with ASD may have nutritionally inadequate diets 8. Name 6 vitamin/mineral supplements commonly used in the treatment of ASD 9. Describe the premise behind enzyme supplementation, probiotics & the Feingold Program 2010 Professional Development Resources Autism Subtypes Page 1 of 45

2 Autism Subtypes, Feeding Issues & Nutrition Considerations Introduction The various conditions that comprise the umbrella term autism spectrum disorders (ASD) have undergone an unreasonably long list of descriptive permutations in the 60+ years since they were first noted in the medical literature. The three chronic developmental disorders that are currently conceptualized on the spectrum are autism, Asperger syndrome (AS) and pervasive developmental disorder-not otherwise specified (PDD- NOS). Autism Spectrum Disorders Autism Asperger Syndrome Pervasive Developmental Disorder Not Otherwise Specified There are whether as a consequence of the dearth of etiological evidence or the lack of consensus on diagnostic precision that has characterized emerging conceptualizations of ASD a number of other diagnostic categories that should be noted within this discussion, specifically child disintegrative disorder and Rett syndrome. Attempts will be made herein to highlight the distinguishing characteristics of each. Once considered a relatively low-prevalence condition, ASD is currently one of the most common forms of developmental disability, dramatically emerging over the past 25 years as a primary diagnostic condition (Boyd et al., 2010). Prevalence estimates have increased tremendously over the last two decades, from about 0.7 to 2 per 10,000 in the 1960s to mid-1980s (Zahner and Pauls, 1987) to nearly 35 to 60 per 10,000 in 2005 (Fombonne, 2005). In 2007, a study sponsored by the Centers for Disease Control and Prevention revealed the prevalence of ASD to be in 1 in 150 (Kuehn, 2007). Finally and most recently to date, Kogan and colleagues (2009) reported the U.S. prevalence of ASD among 3- to 17-year-olds to be 1 in 91, or 1.1% of the population. Such exponential increases have sparked frequent discussions about whether we are experiencing an epidemic of ASD. The earlier the disorder is diagnosed, the sooner the child can be helped through treatment interventions. Zwaigenbaum and colleagues (2009) reported that the mean age at which children with ASD receive a diagnosis is around 4 years old. However, there has been a recent emphasis on the identification of early warning signs of ASD in infants and toddlers with, or at risk for, the disorder (Boyd et al., 2010). Recommended methods of maintaining such vigilance will be discussed below. Pediatricians, family physicians, mental health professionals, daycare providers, teachers, and parents may initially dismiss signs of ASD, optimistically thinking the child is just a little slow and will "catch up." Although early intervention has a dramatic impact on reducing symptoms and increasing a child's ability to grow and learn new skills, it is estimated that only 50 percent of children are diagnosed before kindergarten (Strock, 2004). All individuals with ASD demonstrate deficits in: Social interaction Verbal & nonverbal communication Repetitive behaviors or interests Children with ASD do not follow the typical patterns of child development. In some children, hints of future problems may be apparent from birth. In most cases, the problems in communication and social skills become more noticeable as the child lags further behind other children of the same age. Some other children start off well enough, but then between 12 and 36 months of age, the differences in the way they react to people and other unusual behaviors become apparent. Some parents report the change as being sudden, and that their children start to reject people, act strangely, and lose language and social skills they had previously acquired. In other cases, there is a plateau, or leveling, of progress so that the difference between the child with autism and other children the same age becomes more noticeable Professional Development Resources Autism Subtypes Page 2 of 45

3 ASD is defined by a certain set of behaviors that can range from the very mild to the severe. All individuals with ASD demonstrate deficits in 1) social interaction, 2) verbal and nonverbal communication, and 3) repetitive behaviors or interests. In addition, they will often have unusual responses to sensory experiences, such as certain sounds or the way objects look. Each of these symptoms runs the gamut from mild to severe. They will present in each individual child differently. For instance, a child may have little trouble learning to read but exhibit extremely poor social interaction. Each child will display communication, social, and behavioral patterns that are individual but fit into the overall diagnosis of ASD (Strock, 2004). Among the complicating conditions that frequently accompany ASD are sensory problems that can lead to faulty information processing and further behavioral difficulties. When children's perceptions are accurate, they can learn from what they see, feel, or hear. On the other hand, if sensory information is faulty, the child's experiences of the world can be confusing. Many children with ASD are highly attuned or even painfully sensitive to certain sounds, textures, tastes, and smells. Some children find the feel of clothes touching their skin almost unbearable. Some sounds a vacuum cleaner, a ringing telephone, a sudden storm, even the sound of waves lapping the shoreline will cause these children to cover their ears and scream. All five senses may be involved in the form of unusual sensory behaviors, such as intense hyper- or hyposensitivity to sounds, textures, taste, or visual stimuli. These can take the form of aversions to the smell, taste, feel, sight, and even sound of certain foods. The result can be extreme behaviors that are to say the least stressful for parents in the everyday process of trying to feed their children. In addition to these core features of the disorders, children and adolescents with ASD frequently present a number of very challenging behavior patterns to their parents, siblings, and caregivers. Among these are extreme mood swings, hyperactivity, aggression, and self-injury. As a consequence of the cumulative stresses that can become overwhelming for parents and the difficulties of securing a definitive diagnosis and competent treatment, it is not surprising that many parents seek out a wide variety of treatment forms, some of them unproven or controversial. The purpose of this course is to detail the symptoms and subtypes of ASD, describe developmental and behavioral issues, outline assessment and diagnostic considerations, and briefly review the literature on the efficacy of various treatment approaches. It will also outline common GI problems and feeding difficulties in autism, and examine nutritional considerations, including unusual food preferences or sensitivities and the science and theory behind a variety of nutrition interventions. Background Development of Autism as a Diagnostic Concept The term autism ( escape from reality ) was first used in the context in which it is understood today by Leo Kanner (1943), an Austrian-American psychiatrist at the Johns Hopkins Hospital in Baltimore. Autism is not a new condition and did not suddenly appear among humans in Medical accounts alluding to symptoms that might be recognized today as autism spectrum disorder have been in existence for at least the last 200 years. For example, in the year 1800 a French physician named Jean-Marc-Gaspard Itard (2006) wrote of a 12-year-old boy who grew up in isolation from human contact, living in a forest until he was captured. Itard named the boy Victor and described him as having no speech and as being very self-absorbed. Victor communicated only with gestures, and was described as becoming quite agitated if an object was moved and not returned to its former place Professional Development Resources Autism Subtypes Page 3 of 45

4 Kanner (1943) invented a new category, which he called Early Infantile Autism, which has since sometimes been called Kanner's Syndrome. He described it as an inborn constitutional disorder in which children were born lacking the typical motivation for social interaction and affective comments. In addition to the marked social failure, Kanner described profound disturbances in communication, which could include echolalia, literalness, and even complete mutism. Other features of the disorder he noted were difficulty acquiring the use of the personal pronoun I and the children's unresponsiveness to their parents and simultaneous oversensitivity to aspects of the environment like sights and sounds. While many of Kanner s original conceptualizations have remarkably persisted through contemporary thinking, a number of aspects of his early work have been contested. One example is the role of parental behavior in the genesis of autism. Kanner observed that: 1) Parents of his initial cases were strikingly successful educationally or professionally, and 2) there were major problems in the relationships between parent and child. These notions have unfortunately persisted through the years in spite of a general recognition since the 1960s that parental behavior plays no such role in pathogenesis (Volkmar et al., 2005a, p. 7). This topic will be discussed further in the section on assessment and diagnosis. Problems and Progress in Categorical Definition of Autism According to the American Academy of Pediatrics (AAP), autism spectrum disorders (ASDs) represent 3 of the pervasive developmental disorders defined in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV): autistic disorder (AD), Asperger syndrome (AS), and pervasive developmental disorder not otherwise specified (PDD-NOS) (Plauché Johnson and Myers, 2007). These overlapping disorders share three core features: impairments in social interaction, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behavior (Wetherby & Prizant, 2000, p. 1). The next version of the DSM (version V), scheduled for final release in 2013, proposes to make significant changes in the diagnostic categories currently included in ASDs. Particulars of the proposed changes will not be included here because there is still a significant amount of work for the task force to complete before release. Autistic Disorder As opposed to many conditions described in child psychiatry, strictly defined autism does not shade off into normalcy, and as such represents a very robust clinical categorization. On the other hand, one of the difficulties in attempting to develop explicit definitions in autism is the very broad spectrum of symptom expression. There is a tremendous range in syndrome expression and change in symptoms over the course of development (Volkmar et al., 2005a, p. 14). The DSM-III (American Psychiatric Association, 1980) was instrumental in developing a psychiatric taxonomy based on research findings and validated descriptions of complex phenomena. These concepts were later refined in the DSM-IV in The essential features of autistic disorder follow in Figure 1. Figure 1. The DSM-IV diagnostic criteria for autistic disorder (APA, 1994) A. A total of six (or more) items from (A), (B), and (C), with at least two from (A), and one each from (B) and (C): (1) Qualitative impairment in social interaction, as manifested by at least two of the following: a) marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body posture, and gestures to regulate social interaction b) failure to develop peer relationships appropriate to developmental level c) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people, (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people) d) lack of social or emotional reciprocity (note: in the description, it gives the following as examples: not actively participating in simple social play or games, preferring solitary activities, or involving others in activities only as tools or "mechanical" aids) 2010 Professional Development Resources Autism Subtypes Page 4 of 45

5 (2) Qualitative impairments in communication as manifested by at least one of the following: a) delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime) b) in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others c) stereotyped and repetitive use of language or idiosyncratic language d) lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level (3) Restricted repetitive and stereotyped patterns of behavior, interests and activities, as manifested by at least two of the following: a) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus b) apparently inflexible adherence to specific, nonfunctional routines or rituals c) stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting, or complex whole-body movements) d) persistent preoccupation with parts of objects B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play. C. The disturbance is not better accounted for by Rett s Disorder or Childhood Disintegrative Disorder. There are a number of distinct but related conditions listed under the broad classification of pervasive developmental disorders. It is noteworthy that there is considerable consensus between the two major contemporary diagnostic systems: the American Psychiatric Association s Diagnostic and Statistical Manual of Mental Disorders 4 th edition (DSM- IV, 1994) and the 10 th edition of the International Classification of Diseases (ICD-10, World Health Organization [WHO], 1992). Although there are differences, the two systems are more alike than different, as can be seen in the following comparison table from the DSM-IV and ICD-10. Table 1. Correspondence of DSM-IV and ICD-10 Categories, Conditions Currently Classified as Pervasive Developmental Disorders DSM-IV Autistic disorder Pervasive developmental disorder not otherwise specified (PDD-NOS) Rett s disorder Childhood disintegrative disorder No corresponding category with stereotyped movements Asperger s disorder PDD-NOS PDD-NOS ICD-10 Childhood autism Atypical autism Rett syndrome Other childhood disintegrative disorder Overactive disorder with mental retardation Asperger syndrome Other pervasive developmental disorder Pervasive developmental disorder, unspecified Epidemiological Studies Epidemiological surveys carried out in several countries despite methodological and definitional differences have consistently yielded some common characteristics of autism and PDDs. Among those listed by Volkmar et al., (2005a, p. 65) are these: 1. Autism is associated with mental retardation in about 70% of cases 2. Autism is overrepresented among males, with a male/female ratio of 4.3:1 3. A majority of surveys have ruled out social class as a risk factor for autism 4. The putative association of autism with immigrant status or race has not been supported 2010 Professional Development Resources Autism Subtypes Page 5 of 45

6 How common is the diagnosis of ASD? Addressing this question requires navigating a blinding array of epidemiological statistics. An analysis of surveys done in multiple countries over the past 40 years shows an interesting dichotomy between those done from 1966 through 1993 and those done between 1994 and The median prevalence rate for ASD in 18 surveys published in the former period was 4.7/10,000 and in 18 surveys published in the latter period, 12.7/10,000 (Volkmar et al., 2005a, p. 50). These findings point to an increase in prevalence rates in the past 15 to 20 years, an issue that will be discussed in more detail below. At this point, it might be useful to interject a word about the use of the term prevalence versus the term incidence. Prevalence and incidence are different measures of a disease's occurrence. The "prevalence" of a condition means the number of people who currently have the condition, whereas "incidence" refers to the annual number of people who have a case of the condition. These two measures are very different. A chronic incurable disease like diabetes can have a low incidence but high prevalence, because the prevalence is the cumulative sum of past year incidence rates. A shortduration curable condition such as the common cold can have a high incidence but low prevalence, because many people get a cold each year, but few people actually have a cold at any given time (so prevalence is low and is not a very useful statistic). Conversely, for a chronic condition like autism, incidence is low and not a very useful statistic. In an effort to derive a best estimate of the current prevalence of autism, Volkmar et al., (2005a, p. 50) analyzed the results of 28 surveys done since 1987, yielding a conservative estimate for the current prevalence of autistic disorder within the range of 10/10,000 and 16/10,000 (see Table 2). The authors adopted the midpoint of that range as the working rate for autism prevalence: 13/10,000. In dramatic contrast to earlier prevalence estimates, the Centers for Disease Control and Prevention (CDC) in February, 2007 issued a press release summarizing data on autism spectrum disorders from multiple communities in the United States. In analyzing data from prevalence studies done in 2000 and 2002, the CDC found an average ASD rate of approximately one in 150 children in the communities studied, which translates into a rate of 67 per 10,000 (CDC, 2007). The most recent CDC estimates hold that between 1 in 80 and 1 in 240 or an average of 1 in 110 children in the United States have an ASD (CDC, 2009). This is equivalent to a prevalence estimate of 90 per 10,000. The CDC emphasized that these findings do not provide a national estimate, but that they do confirm that ASDs in the areas surveyed are more common than previously thought. Table 2. Comparative estimates of the median prevalence of autism over the past 40 years Time Period Median Prevalence Estimate per 10, per 10, per 10,000 CDC Report per 10,000 CDC Report per 10,000 Is the prevalence of autism on the increase? According to Volkmar et al., (2005a, p. 65), Although prevalence estimates appear to have gone up over time, this increase most likely represents changes in the concepts, definitions, service availability, and awareness of autistic-spectrum disorders in both the lay and professional public. In the CDC report, Director Dr. Julie Gerberding stated: our estimates are becoming better and more consistent, though we can t yet tell if there is a true increase in ASD or if the changes are the result of our better studies (CDC, 2007). Autism and Developmental Disabilities Monitoring (ADDM) Network The Centers for Disease Control and Prevention (CDC) have developed a population-based tracking system to estimate the number of children with ASDs (prevalence) and collect information on features of these children. This tracking system finds children with ASDs by reviewing health and education records Professional Development Resources Autism Subtypes Page 6 of 45

7 The Autism and Developmental Disabilities Monitoring (ADDM) Network is a group of programs funded by CDC to determine the number of people with autism spectrum disorders (ASDs) in the United States. The ADDM sites all collect data using the same surveillance methods, which are modeled after CDC s Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP) (accessed July 12, 2010). ADDM s goals are to: Provide data about ASD prevalence (how common ASDs are in a specific place and time period). Describe the population of children with ASDs. Compare ASD prevalence in different groups of children and different areas of the country. Identify changes in ASD prevalence over time. Understand the impact of autism and related conditions in US communities. (accessed July 12, 2010) Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS) This diagnostic category describes a condition in which there are severe deficits in social learning and reciprocity, frequently accompanied by other disturbances that are typical of autism. However, these are not identical conditions. Compared with individuals who have autism, those with PDD-NOS have symptoms that are relatively less severe and a prognosis that is better. It is thought that PDD-NOS is not just one condition, but more likely a collection of related disorders (Volkmar et al., 2005a, p. 165). PDD-NOS, like the other spectrum disorders, is diagnosed according to developmental history and clinical presentation. The condition is used as something of a default diagnosis when the specific profile of symptoms and onset criteria of other PDDs are not met. According to the DSM-IV (APA 1994, p. 84), this category is used when there is: a severe and pervasive impairment in the development of reciprocal social interaction or verbal and nonverbal communication skills or when stereotyped behavior, interests, and activities are present but the criteria are not met for a specific pervasive developmental disorder, schizophrenia, schizotypal personality disorder, or avoidant personality disorder. For example, this category includes "atypical autism" - presentations that do not meet the criteria for autistic disorder because of late age at onset, atypical symptomatology, or subthreshold symptomatology, or all of these. A useful schema for understanding this somewhat amorphous category is presented by Volkmar et al., (2005a, p. 168): 1. PDD-NOS is sometimes used as a label to apply under unfavorable diagnostic conditions, as a temporary default designation pending availability of more reliable information. 2. On the PDD continuum, PDD-NOS is a collection of entities that are relatively higher functioning, but not qualitatively distinct. 3. PDD-NOS may be used to diagnose individuals who acquire autistic symptoms at a later age of onset than that specified for autistic disorder (i.e., prior to age 3). 4. PDD-NOS may be seen as not on the same continuum as severe autism, possibly even with additional symptoms that are not part of the autism spectrum. Diagnostically, there is a daunting list of early childhood disorders that must be considered as rule-outs when undertaking a differential diagnosis. This list includes in addition to the other spectrum disorders discussed herein mental retardation, developmental language disorders, attention deficit hyperactivity disorder, reactive attachment disorder, and a variety of anxiety disorders Professional Development Resources Autism Subtypes Page 7 of 45

8 Asperger Syndrome (AS) Originally described by the Austrian pediatrician Hans Asperger in 1944, Asperger syndrome is a severe and chronic developmental disorder that is closely related to autistic disorder and pervasive developmental disorder-not otherwise specified (PDD-NOS). Together, these three comprise the continuum referred to as autism spectrum disorders (ASD). Figure 2, below, lists the DSM-IV diagnostic criteria for AS. Figure 2. DSM-IV criteria for Asperger s syndrome (APA, 1994) II. Asperger's syndrome A. Qualitative impairment in social interaction, as manifested by at least two of the following: 1. marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction 2. failure to develop peer relationships appropriate to developmental level 3. a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest) 4. lack of social or emotional reciprocity B. Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, as manifested by at least of one of the following: 1. encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus 2. apparently inflexible adherence to specific, nonfunctional routines or rituals 3. stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting, or complex whole body movements) 4. persistent preoccupation with parts of objects C. The disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning. D. There is no clinically significant delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years). E. There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than in social interaction), and curiosity about the environment in childhood. F. Criteria are not met for another specific pervasive developmental disorder or schizophrenia. As in the case of autism spectrum disorders in general, estimates of prevalence are imprecise as a consequence of the variability in the use of various diagnostic criteria. However, there are studies indicating that rates of AS may be on the rise. Fombonne and Tidmarsh (2003) reviewed a number of epidemiological studies and concluded that there was a very wide range of prevalence rates reflecting methodological differences across studies. Taking these differences into account, they suggested a working prevalence rate of 2 per 10,000 pending further research. This represents a significant increase over rates reported 20 years ago. However, any conclusions should be tempered with the awareness that there remains a great need for research based upon standardized diagnostic definitions. Social Interaction In terms of social functioning, individuals with AS may be socially isolated but not withdrawn, inclined to approach others in ways that are intrusive, loquacious, and insensitive. Unable to correctly interpret the feelings and intentions of others, they may react inappropriately and repel others, who may then perceive them as disregarding the other person s emotional expressions. They may try to compensate for their poor intuition and lack of spontaneity with rigid rules of behavior. Others may experience them as odd and annoying, resulting in chronic frustration for the individual with AS, who may react to their failure to engage others by developing the symptoms of anxiety or mood disorders, which may require clinical attention (Volkmar et al., 2005a, p. 99) Professional Development Resources Autism Subtypes Page 8 of 45

9 Communication Patterns As opposed to children with autistic disorder, those with AS do not present with clinically significant developmental or language delays in the first years of life. Language development may even appear to be precocious in some cases. However, as time goes on, it becomes clear that the child s usage is unusual and may be marked by a pedantic quality. A number of unusual patterns of communication are typical in AS, among them: Poor prosody, manifested in monotonic intonation and inflection patterns Hurried or jerky patterns of speech Poor volume modulation, frequently manifested in speech that is too loud for certain social settings Tangential speech, which may present like a thought disorder, although it is not Incessant chatter about favorite subjects, without regard to the listener s interest These inappropriate patterns of speech tend to exacerbate already strained relationships, leading to further social isolation. Circumscribed Interests Another feature impacting the social interactions of individuals with AS is the inclination toward a consuming preoccupation with a topic or activity that is highly restricted and specific. The intensity of this interest goes far beyond what one would expect in the hobbies of typical individuals. They may change areas of interest from time to time, but during the time period in which each topic is the focus of obsessive attention, the individual and sometimes even the entire family is immersed in the subject. This can become a problem in terms of its negative impact on the normal process of learning about other things and in its exacerbation of the social difficulties described above. Other Features of AS In addition to the three classic patterns just noted, individuals with AS also typically experience motoric difficulties such as poor coordination, clumsiness, and lack of coordination. They may have problems engaging in sports or other recreational activities that require sophisticated motor coordination. As with the patterns listed above, one of the consequences of this feature is the further perception by others that individuals with AS are different. As the impact of chronic social rejection sets in, comorbid depression and anxiety can quickly become further clinical concerns. These comorbid conditions must be addressed as part of the comprehensive treatment plan. Child Disintegrative Disorder (CDD) Prior to the publication of the DSM-IV, CDD was one of the subgroup diagnoses that were included under the umbrella term PDD-NOS. The defining pattern for this condition is a delayed onset of regressive symptoms following a period of apparently normal development in verbal and nonverbal communication for at least two years after birth (see Figure 3, below). Typical onset is between the ages of 3 and 5 years. At that point the child begins to manifest a clinically significant loss of previously acquired language, social, and motor skills, sometimes involving bladder and bowel control. This onset pattern is distinctive and is critical in making a differential diagnosis. Epidemiological data on this condition are limited due to problems of differential diagnosis and the relative lack of familiarity of clinicians with the disorder. Nevertheless, it appears that it occurs predominantly in males, as seen in autism Professional Development Resources Autism Subtypes Page 9 of 45

10 Typically the child s behavior and development deteriorate to a much lower level of functioning and remain there. In some cases the regression may be followed by some limited recovery in which the child may regain the capacity to speak in a limited way. About 25% of individuals with CDD and other ASDs have seizure disorders and another 25% have various other EEG abnormalities (Volkmar et al., 2005a, p. 75). Figure 3. DSM-IV criteria for childhood disintegrative disorder (APA, 1994) IV. Childhood disintegrative disorder (CDD) A. Apparently normal development for at least the first two years after birth as manifested by the presence of ageappropriate verbal and nonverbal communication, social relationships, play, and adaptive behavior B. Clinically significant loss of previously acquired skills (before age 10 years) in at least two of the following areas: 1. expressive or receptive language 2. social skills or adaptive behavior 3. bowel or bladder control 4. play 5. motor skills C. Abnormalities of functioning in at least two of the following areas: 1. qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity) 2. qualitative impairments in communication (e.g., delay or lack of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language, lack of varied make-believe play) 3. restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, including motor stereotypies and mannerisms) D. The disturbance is not better accounted for by another specific pervasive developmental disorder or by schizophrenia In view of the delayed onset of this disorder in children who have apparently been developing normally, it is understandable that many parents attribute its onset to some medical or psychosocial event (Volkmar et al., 2005a, p. 73). Examples of such stressors are events such as the birth of a sibling, the death of a grandparent, immunizations, and hospitalization for elective surgery. However, such events are relatively common to preschool children, and the literature does not support the notion that they have any etiological significance in the occurrence of childhood disintegrative disorder. It is also typical for parents to seek out consultations with many different specialists and pursue various diagnostic procedures. However, such tests are usually not enlightening. Even when extensive medical diagnostics are undertaken, it is not possible to identify a specific medical explanation for the child s deterioration. Once established, CDD presents with essentially the same features as autism. Thus, treatment for CDD is similar to that for autism, to include family therapy, behavior modification and special education. Treatment approaches will be discussed in more detail below. Rett Syndrome One last condition to be included here as a diagnostic category removed from the PDD-NOS umbrella with the publication of DSM-IV is Rett syndrome, or as it is variously known, Rett s disorder. According to Volkmar et al., (2005a, p. 126) Rett syndrome is a phenotypically distinct progressive X-linked dominant neurodevelopmental disorder that almost exclusively affects females. Among the most prominent symptoms are stereotypic hand movements (hand-tomouth movements, hand washing, and hand clasping). Rett syndrome is one of the most common causes of mental retardation among girls, second only to Down syndrome. The DSM-IV diagnostic criteria are presented below in Figure Professional Development Resources Autism Subtypes Page 10 of 45

11 The disorder was first described in 1966 by an Austrian physician, Andreas Rett, who published a report in German (Rett, 1966) detailing his observations on 22 girls with a syndrome consisting of stereotypic hand movements, dementia, autistic behavior, ataxia, cortical atrophy, and hyperammonemia (blood ammonia). Figure 4. DSM-IV criteria for Rett s Disorder (APA, 1994) II. Rett s disorder A. All of the following: 1. apparently normal prenatal and perinatal development 2. apparently normal psychomotor development through the first five months after birth 3. normal head circumference at birth B. Onset of all of the following after the period of normal development: 1. deceleration of head growth between ages 5 and 48 months 2. loss of previously acquired purposeful hand skills between ages 5 and 30 months with the subsequent development of stereotyped hand movements (e.g., handwringing or handwashing) 3. loss of social engagement early in the course (although often social interaction develops later) 4. appearance of poorly coordinated gait or trunk movements 5. severely impaired expressive and receptive language development with severe psychomotor retardation Researchers have divided the disorder into four stages: 1. Early onset stagnation stage: onset age 6 to 18 months 2. Rapid destructive stage: onset age 1 to 4 years 3. Plateau stage: onset 2 to 10 years 4. Late motor deterioration stage: onset age 10+ At each of these stages, Rett syndrome must be differentially diagnosed by identifying presenting characteristics and ruling out a number of other neurodevelopmental disorders. There is a pattern of growth deceleration across all stages, which is not well understood, but hypothesized to be related to malabsorption of certain critical nutrients and the failure to benefit from adequate caloric intake (Volkmar et al., 2005a, p.145). Reilly and Cass (2001) listed a number of feeding problems common in persons with Rett syndrome, among them the inability to consume adequate calories orally to meet energy requirements, aspiration during oral feeding, protracted mealtimes, failure of supplementation, food refusal, aversive mealtime behavior, and caregiver stress. These symptoms and possible interventions will be discussed in more detail below. Identification and Evaluation The prospects for identifying children with ASD during the first 2 years of life have become more promising than in past years (Boyd et al., 2010). Research efforts have targeted the identification of early warning signs of ASD in infants and toddlers with or at risk for the disorder. Some of the identified behavioral warning signs include delays or disorders in: early social behaviors, such as social smiling, looking at faces, and responding to one s name, early communication behaviors, such as producing vocalizations, using a variety of gestures, coordinating verbal and nonverbal behaviors, such as pairing eye contact with vocalization Professional Development Resources Autism Subtypes Page 11 of 45

12 The American Academy of Pediatrics (AAP) recently released two clinical reports detailing (1) the identification and evaluation of children with autism spectrum disorders (Plauché Johnson and Myers, 2007) and (2) the management of children with autism spectrum disorders (Myers, 2007). The AAP reports emphasize the importance of early identification of ASDs in order to allow early intervention, etiologic investigation, and counseling regarding recurrence risk (Plauché Johnson and Myers, 2007). It also recommends surveillance procedures at the first pediatric preventive care visit for infants. Although primary care physicians are able to make the diagnosis in some cases, the definitive diagnosis should ideally be made by a team of child specialists with expertise in ASDs. The interdisciplinary team may include a child neurologist, a developmental pediatrician, a psychiatrist, a child psychologist, a speech-language pathologist (SLP), a pediatric occupational therapist, and a social worker or counselor with expertise in ASDs. According to the report, psychologists with appropriate training and experience can make the diagnosis independently and often do so. The Centers for Disease Control and Prevention established a user-friendly and valuable website called Learn the Signs, Act Early, which contains descriptions of typical development and early warning signs associated with ASD (accessed July 19, 2010). The American Speech-Language-Hearing Association (2006) published a position paper in which guidelines were set forth for SLP participation in the diagnosis, assessment, and treatment of ASDs across the lifespan. The list of appropriate roles included screening, diagnosis, assessment and intervention, work with families, collaboration with other professionals, training, research, and advocacy. The AAP paper states that there are three major diagnostic challenges in the comprehensive assessment of a child suspected of having ASD: 1. determining the child s overall level of functioning 2. making the categorical diagnosis of an ASD 3. determining the extent of the search for an associated etiology To accomplish these goals, a comprehensive evaluation should include: (Plauché Johnson and Myers, 2007) 1. Health, developmental, and behavioral histories that include at least a 3-generation family pedigree and a review of systems. 2. Physical examination including a thorough search for dysmorphic features and neurologic abnormalities and a Wood s lamp examination of the skin. 3. Developmental and/or psychometric evaluation (depending on age/skill level) to determine the child s overall level of functioning and whether a discrepancy between motor-adaptive problem-solving and social communication skills is evident. 4. Determination of the presence of a categorical DSMIV-TR diagnosis, preferably with standardized tools that operationalize the DSM criteria. 5. Assessment of the parents knowledge of ASDs, coping skills, and available resources and supports. 6. A laboratory investigation to search for a known etiology or coexisting condition guided by information obtained in Steps 1 through 5. Interventions The difficulty and the importance of treating individuals with ASD cannot be overstated. As indicated above, the impairments of these individuals begin very early, that is, in the first year or two of life. They are severe and pervasive, interfering with the development of the most fundamental competencies in the areas of communication, socialization, motivation, and attention. These competencies serve as the basis for all learning. The conditions are of unknown origin and lifelong duration. The challenges to educators and families and to the individual themselves are enormous Professional Development Resources Autism Subtypes Page 12 of 45

13 Thus, individuals with ASD, once diagnosed, will have the need for interventions in a number of areas, including (but not limited to) behavior modification, communication enhancement, classroom management, family training, and psychopharmacology. This list obviously requires an interdisciplinary approach involving ongoing involvement with those professionals qualified to deliver specialized services in all these areas. Early intervention services will pave the way for progression from the home environment to a much more challenging and complex transition to the classroom frequently in a mainstream environment. In the case of the spectrum disorders above all others, the treatment strategies that are developed must be closely related to a comprehensive functional assessment of the individual at his or her current level of functioning. Since most individuals with ASD live at home with their families, it is important to develop a collaborative model, with families and professionals working in partnership to see to the needs and rights not only of the individual with ASD, but also the particular needs of the parents and siblings. For individuals with intellectual disabilities and severe behavioral problems, this is not a simple matter in any setting. For parents and teachers it means constant attention and monitoring, personal growth and training, and ongoing self-assessment. The fact that spectrum disorders are severe and incurable opens up a number of vulnerabilities for families and even the professionals working with them. One such vulnerability is the desire to find the miracle cure. When traditional medicine is unable to offer immediate hope of breakthrough treatments, countless unproven interventions are likely to spring up. Parents may reach for alternatives that promise spectacular success but for which no rigorous studies are available. Part of the role of helping professionals is to guide families through the process of coming to understand the scientific approach of carefully testing hypotheses that can eventually yield objective data concerning the efficacy and safety of new treatment approaches. The payoff for patience and persistence in adhering to established treatments is that they have been able to document significant gains. Recent trends in treatment for individuals with ASD include proactive approaches such as the identification and modification of situational and environmental variables, teaching skills as a means of increasing competence and independence, and actively engaging family members and teachers in the planning and implementation of intervention packages. The following sections will outline the strategies and techniques that are available in the areas of behavior modification, social communication, classroom management, family training, and psychopharmacology. Behavioral Interventions Research literature involving infants and toddlers with ASD has been sparse. Therefore, some practitioners have extrapolated interventions and services from the extant literature on preschool and school age children with ASD (Boyd et al., 2010). In a recent review of this literature, investigators from the National Professional Development Center on Autism Spectrum Disorders identified practices that met their explicit criteria for evidence-based practice (Odom et al., 2010). Following their review, they listed the evidence-based practices and most promising practices for infants and toddlers with ASD. Some of the behavioral interventions included have been adapted from an applied behavior analytic theoretical orientation including prompting, reinforcement, task analysis, and time delay procedures. While there have been no published studies on the efficacy of such interventions involving only infants and toddlers with ASD, the researchers suggest that some toddlers with ASD will benefit greatly from such behavioral practices. Individuals with ASD are inclined to develop problem behaviors that adversely affect their social and educational functioning and tend to worsen if untreated. For at least three decades the mainstay of treatment for children and adults with ASD has been behavioral intervention. Increasingly sophisticated strategies have been aimed at the following functional areas (Volkmar et al., 2005b, p. 897): 2010 Professional Development Resources Autism Subtypes Page 13 of 45

14 1. personal independence and responsible choice 2. skill development and habilitative training 3. prosocial behavior and leisure activities 4. self-control and relaxation 5. reinforcing adaptive responses and suppressing maladaptive ones 6. identifying environmental cues for maladaptive behavior Recent trends in specific behavioral strategies for ASD include antecedent interventions, consequence-based interventions, and skill acquisition. Antecedent interventions are those strategies that focus on preventing the occurrence of problem behaviors by attempting to identify and modify environmental cues or conditions that precede maladaptive behaviors. Such strategies are roughly divided into those that are implemented some time before the target behaviors are expected to occur and those that are used immediately before they are expected. An example of the former might be the range of early intervention services that are intended to increase adaptive functioning in order to prevent or reduce later difficulties. The latter might be exemplified by the use of exercise or relaxation techniques just prior to the occurrence of non-routine or novel events that may be expected to stimulate problem behaviors. Consequence-based interventions are procedures that are implemented after problem behavior occurs. These techniques may include interruption and redirection, introduction and removal of reinforcers, extinction, and punishment. The most effective interventions generally employ some combination of antecedent and consequencebased techniques. Skill acquisition interventions are intended to help individuals with ASD develop positive behavioral skills to eventually replace maladaptive behaviors. An example would be a program in which young children are taught to engage in independent play, with the goal of replacing disruptive behaviors with play skills. Also in this category are language and communications skills, with which individuals can communicate their needs verbally instead of behaviorally. There is relatively little in the way of empirical guidance for selecting behavioral strategies that are successful in treating specific behavior problems (Volkmar et al., 2005b, p. 914). There is, however, some evidence in the literature that certain behaviors are more responsive to treatment than others. A number of meta-analyses published in the 1980s (Gorman-Smith & Matson, 1985; Lennox, Miltenberger et al., 1988; Matson & Gorman-Smith, 1986) suggested that the least responsive behaviors are self-injury and aggression and that the most responsive are hyperactivity, stereotypy, and toileting problems. In a consensus conference sponsored by the National Institutes of Health (1991), a number of recommendations for the use of behavioral treatment were issued, including the following: 1. Most successful approaches to treatment are likely to involve multiple elements such as behavioral and pharmacological therapies, environmental change, and education. 2. Treatment methods may require techniques for making changes in social and educational environments to produce desired behaviors and reduce destructive ones. 3. In the application of any treatments, an essential step involves functional analysis of existing behavior patterns, including medical and psychiatric conditions and environmental situations. 4. Behavior-reduction procedures should be used only if restrictive interventions are required and only in the context of a comprehensive treatment package Professional Development Resources Autism Subtypes Page 14 of 45

15 Social Communication As noted above, individuals with ASD demonstrate significant impairment in social interaction and communication, and they exhibit a restricted range of interests and attention. This combination of deficits interferes with learning and seriously disrupts family life. There is considerable agreement in the field of ASD that intensive, early intervention leads to significant improvements in children s functioning and long-term outcomes. However, there remains considerable disagreement regarding the best method of intervention (Ingersoll, 2010). In the area of communication, Volkmar et al., (2005b, p. 925) draw a distinction between the overlapping concepts of social communication and functional communication (see Table 3, below adapted from Volkmar et al., 2005b, p. 925). Table 3. Comparative concepts of social communication and functional communication Social communication The acquisition and use of socially appropriate verbal and nonverbal means of communicating with others May include words, gestures, sign language, pictures, or symbols Involves some degree of understanding social cues and events in order to us social communication skills appropriately Functional communication The degree to which an individual s social communication abilities are relevant to one s everyday activities and events One s abilities support greater independence and participation A basic assumption in the conceptualization of social communication interventions has been that deficits in social communication are directly related to problem behaviors. In much the same way as very young pre-verbal children may attempt to express their needs behaviorally in ways that are dysfunctional, so individuals with ASD who do not yet have adequate verbal communication skills may engage in self-injury or aggression as a way of attempting to exert social control. Thus, the goal of teaching appropriate communication skills is seen as an essential antecedent intervention. Intervention methods for communication in ASD may be grouped into three major approaches (Volkmar et al., 2005b, p. 947). 1) The first approach referred to as didactic involves the use of structured behavioral training for the purpose of increasing positive behaviors with repetitive periods of drill and practice. All aspects are controlled and directed by the adult, usually a teacher. For this reason, this approach is also called teacher directed. 2) The second approach called naturalistic attempts to incorporate behavioral principles in natural environments by focusing on reinforcers that involve the satisfaction of a desired goal, such as giving the client a cookie when she says I want a cookie. The essential goal is to teach the client to initiate communication, rather than always being simply a responder. 3) The third approach known as pragmatic encourages the development of functional communication, rather than speech. These techniques may involve the use of alternative methods of communication, such as gestures, gaze, and vocalization. This approach is particularly useful for children with ASD who are in prelinguistic and early language acquisition stages. The AAP report suggests that treatment by an SLP is usually appropriate and notes a number of approaches that have been reported to be effective in building communication skills in children with ASDs. The most thoroughly studied are the didactic and naturalistic approaches such as Discrete Trial Training (DTT), pivotal response training, verbal behavior, natural language paradigm, and milieu teaching (Myers, 2007) Professional Development Resources Autism Subtypes Page 15 of 45

16 Augmentative and alternative communication (AAC) modalities like sign language, gesturing, and picture communication programs such as The Picture Exchange Communication System (PECS) are also useful (Myers, 2007). In a very small study involving two children with ASD, Travis and Geiger (2010) found that the PECS was a highly effective treatment for requesting, with mixed results for commenting and length of verbal utterances. They also found considerable increases in intentional communicative acts (ICAs) for both participants, with marked increases in requesting (function) and the development of forms of communication (from augmentation of speech with pictures to speech only utterances). There are a number of other techniques that can be implemented by SLPs. The TEACCH (Treatment and Education of Autistic and related Communication-handicapped Children) program is somewhat unique in that rather than attempting to eliminate behaviors that make the individual appear different it is founded upon respecting and supporting the individual s functioning in society. It utilizes a structured teaching approach with an emphasis on parentprofessional collaboration. Another technique is Floortime (Greenspan and Wieder, 1998), a naturalistic behavioral strategy that is focused on building emotional reciprocity by meeting the child at his current developmental level and encouraging him to learn ways to relate in meaningful ways. Although the social communication deficits of children with ASD are profound and pervasive, a variety of intensive early intervention strategies have been shown to make significant improvements in communication skills. The early interventions, however, do not necessarily lead to generalization of skills to other settings. Thus, children with ASD may benefit from opportunities for peer interaction with children who receive special training to include them in their play. Classroom Management For most children with ASD, the most significant gains in accelerating development will be made in a classroom environment that is specifically tailored to their needs. Frequently these classrooms involve inclusionary or mainstream environments. The very good news is that effective classroom strategies have been shown to have very positive effects for young children with autism, effects such as acceleration of developmental rates, improved social behavior, significant language gains, and a decrease in negative symptoms. Volkmar et al., (2005b, p. 1004) reviewed the research-based methods that have been demonstrated to be effective for teaching young children with autism, describing three strategies that can be combined in an integrated educational approach. The three methods are these: 1) Discrete Trial Training (DTT): Used to teach receptive and expressive language skills and pre-academic concepts, this method teaches skills in a logical sequence by employing a series of discrete trials. Each trial consists of four steps: (1) an instructional cue, (2) the child s response, (3) the consequence usually a positive reinforcer, and (4) a pause. Trials are repeated until the child attains a pre-set criterion. 2) Pivotal Response Training (PRT): This method is similar to DT in that it is based on the same four-step sequence, but the trials are incorporated into the environment so that the reinforcer is a natural consequence to the behavior that is being rewarded. Such a method is practical because it makes it possible to engage the child in multiple activities and locations throughout the day. Nefdt et al., (2010) investigated the use of a self-directed learning program to provide introductory training in Pivotal Response Treatment to parents of children with autism. Their data suggest the efficacy and effectiveness of a self-directed learning program to serve as an initial step toward providing intervention for parents with children with autism. Furthermore, all of the parents who completed the self-directed learning program reported high ratings of satisfaction. This is an important finding, in that the parents of children with ASD frequently feel frustrated and helpless in the wake of the challenges they face, as will be noted below. 3) Teaching Functional Routines (FR): These strategies make use of predictable events that occur throughout the school day, such as arriving at school, using the restroom, and lunch and snacks. The functional routines involve a 2010 Professional Development Resources Autism Subtypes Page 16 of 45

17 chain of behaviors with which the child becomes familiar, and which lead to a functional outcome that serves as the reinforcer, such as a snack or a break. As indicated earlier, the best outcomes generally occur when such methods are started early and combined to form an integrated approach to early education. A more recently developed intervention model that attempts to circumvent the problem of generalization noted earlier and to directly address the core deficits of children with ASD is the SCERTS model. The acronym is derived from its components: social communication, emotional regulation, and transactional support. Wetherby and Prizant (2000, p. 207) favor this comprehensive approach over those described above because it encompasses clinical, school-based and home-based strategies, including family support, training, and education. They believe it reflects best practices in the contemporary literature on ASDs. The concept of including children with ASD in mainstream educational settings is pivotal in forming their schooling plans. The attraction of this concept is that it is both fiscally practical and in the best interest of both the children with ASD and their typically developing classmates. The inclusion of children with ASD into the social environment of the classroom is extremely important to their ability to develop social communication skills. Their typically developing peers can be specially trained to interact and become effective models of appropriate peer interaction. In such environment, it is very important to have adult mediators to serve as a facilitator of social interactions among the children. Family Training The earlier view of the parents of children with ASD as the cause of their child s problems (a view shared by many professionals and parents of children with ASD) has thankfully undergone a dramatic transformation in the past three decades. In view of the contemporary conceptualization of ASD as a spectrum of developmental disabilities caused by neurobiological dysfunction, parents are now commonly enlisted as central interventionists in comprehensive treatment approaches. Regardless of the various treatment approaches that may be applied, parents inevitably spend more time with their child than anyone else. It is important to take note of the subjective experiences of the parents of children with ASD, which are highly variable. The experiences and responses of one family may be entirely different from those of another. If there are commonalities, confusion and bewilderment may often be the first experiences faced by many parents (Domingue, Cutler, and McTarnaghan, 2000). They may be plagued with fear, grief, and guilt, finding little relief in multiple consultations with various professionals. Parents who are not provided with the information they need to help their child frequently continue their search, sometimes being branded as shoppers. Compounding their frustration is the difficulty of obtaining a definitive diagnosis and a comprehensive treatment plan. Not surprisingly, there appears to be a reciprocal relationship between parental stress and child behavior difficulties, with each exacerbating the other in an escalation of distress. In fact, one study indicated that parenting stress was a stronger predictor of child behavior problems, rather than vice versa (Osborne and Reed, 2009). Once parents do become connected with an interdisciplinary team, they themselves become important elements in the child s treatment. Particularly in the early years when intervention for ASD is principally critical the family environment is where the child spends nearly all of his or her time. During this time, parents are not only parents, but also teachers, behaviorists, and the managers of pharmacological treatments. In this light, the importance of training parents for all of these roles is obvious. Later, when the child enters the elementary school years, parents are still central to treatment success in collaborating with teachers, counselors, and other professionals. The many aspects of parent and family training include: 2010 Professional Development Resources Autism Subtypes Page 17 of 45

18 Education to provide family members with information to understand the child s disorder Co-therapist training to teach parents behavior management strategies and goal monitoring Relationship enhancement to assist families in increasing the positive aspects of parent-child relationships Cognitive skills to train family members in skills like problem solving and cognitive restructuring Emotional support to provide families with an empathic ear and opportunities for emotional release Advocacy training to equip parents to obtain access to resources and advocate for their child s needs across the life cycle These add up to a tall order, both for parents of children with ASD and for the professionals who work with them. Psychopharmacology Pharmacological interventions for ASD are aimed at controlling what have been referred to as interfering symptoms. These can include hyperactivity/inattention, repetitive and/or stereotypic behavior, irritability (aggression, self-injury, severe tantrums) and core social impairment. In a review that prioritized randomized, placebo-controlled trials when available, Blankenship et al., (2010) studied the available literature on the effects and side effects of the medications used in this population. Table 4 presents a brief summary of their findings. For readers wishing to access full detail, the Blankenship article provides an excellent and detailed discussion on the efficacy (or lack thereof) of medications that are used to treat various symptom groups in ASD populations. Table 4. Interfering symptoms of ASDs, medications, and reported side effects Symptom Group Medication/Class Reported Side Effects Hyperactivity/Inattention Irritability/Aggression Repetitive Behaviors methylphenidate (MPH) amoxotine clonidine guanfacine Typical Antipsychotics haloperidol Atypical Antipsychotics risperidone olanzapine clomipramine fluvoxamine sertraline irritability, decreased appetite, insomnia, emotional lability irritability, appetite & sleep problems, GI symptoms sedation, fatigue sedation, irritability, sleep disturbance, aggression, agitation, decreased appetite, headache sedation, constipation, irritability, headache, sleep disturbance sedation, increased appetite, weight gain, fatigue, drowsiness significant weight gain Significant side effects Safety Concerns nausea, mild sedation, insomnia, hyperactivity, agitation, and aggression anorexia, headache, tinnitus, alopecia, weight gain, sedation, and anxiety Social Impairment memantine none noted Blankenship and her colleagues summarize their review findings by stating that there continues to be progress made in pharmacotherapy of ASD, the general approach being to target one symptom domain at a time. They note further, however, that most patients present with multiple symptoms that need attention. They predict that the future of PDD pharmacologic research will likely involve drug trials that include a combination medication approach with two or more medications that will target more than one symptom domain (Blankenship et al., 2010) Professional Development Resources Autism Subtypes Page 18 of 45

19 Fads and Unproven Therapies As noted earlier, the parents of children with ASD are confronted with overwhelming difficulties in not only social and school situations, but even in their daily management of simple living activities. In the face of such adversity and lacking effective therapeutic resources, it is common for parents to gravitate toward treatments that have not been proven effective but have gained certain notoriety by way of word of mouth. As a result, many such parents are confronted with a banquet of confusion on the Internet and unscrupulous practitioners who victimize families desperate for easy answers to difficult questions. An additional problem is that such therapies can divert parents from dealing with the fundamental needs of their child and focusing their energies in demonstrably helpful approaches. Marcus et al., (2005) noted that such unproven therapies have three characteristics in common: the technique has some face validity in that it seems to be a good idea or has worked for some other condition anecdotal reports of effectiveness have captured the attention of the media and vulnerable families they may have costly side effects like lost opportunity for inclusion in proven therapies One strident example of a widely held popular belief was the idea that autism is caused by thimerosal, a major source of mercury exposure in children from 1988 through 2002, when the Centers for Disease Control (CDC) added several new vaccinations to the nation s infant immunization program. During the same time period, studies indicated increases in the incidence of autistic disorders, prompting some observers to infer a causal relationship between the two. While subsequent studies performed by the CDC and others failed to establish a link, many parents declined to have their children immunized, which increased risks to not only the individual child s health, but to the public health in general. In February 2010, twelve years after publishing a landmark study (Lancet 1998; 351[9103]:637-41) that turned tens of thousands of parents around the world against the measles, mumps and rubella (MMR) vaccine because of an implied link between vaccinations and autism, The Lancet took the unprecedented action of retracting the paper. In a statement published on Feb. 2, the British medical journal said that it is now clear that several elements of the 1998 paper it published by Dr. Andrew Wakefield and his colleagues are incorrect, contrary to the findings of an earlier investigation (Published at on Feb. 4, 2010). Nevertheless, the misconception persists and continues to influence large numbers of parents. A more detailed discussion of the mercury-autism hypothesis is included below. Witwer and Lecavalier (2005) studied the treatment incidence of dietary interventions in children and adolescents with ASD. They found that 15% of participants were following some type of modified diet, such as those that attempt to eliminate gluten and/or casein from the diets of individuals with ASD. These diets can be very time-consuming and expensive. Available data are primarily anecdotal, and those studies that have been offered are methodologically flawed. This topic will receive further attention later in this course. Autism, GI Problems, and Feeding Difficulties Prevalence rates of chronic gastrointestinal disorders within autistic spectrum disorder (ASD) pediatric samples range from 9%-91% (Buie et al., 2010). Previous studies have reported children affected with autism appear to experience gastrointestinal problems and feeding difficulties at a higher rate than children without autism (Jackson, 2005). The belief that a link exists between gastrointestinal (GI) disorders such as improper digestion, leaky gut syndrome, gastroesophageal reflux, diarrhea, and constipation and autism has existed in part due to anecdotal reports from parents, survey findings where 50% of parents of autistic children reported that their children had loose stools or frequent diarrhea (Lightdale et al., 2001), and because some individuals with autism also have gastrointestinal symptoms in addition to their behavioral impairments. The extensive review of the literature published in Pediatrics in January 2010 was conducted by a multidisciplinary panel with the goal of generating evidence-based recommendations for diagnostic evaluation and management of gastrointestinal problems in pediatric patients with ASD (Buie et al., 2010) Professional Development Resources Autism Subtypes Page 19 of 45

20 The rationale for examining the characteristics of the autism and gastrointestinal disorder relationship can be attributed to the co-morbid existence of various gastrointestinal symptoms associated with autistic spectrum disorder, such as gastroesopheagal reflux, constipation, diarrhea, gastroenteropathic-related food allergies, dysphagia and delayed gastric emptying (Horvath, et al., 1999). The significance is that these conditions present a risk for the autistic child for increased behavioral problems, malnutrition, and chronic inflammation of the gut among others. However, the presence of any of these disorders does not confirm autism spectrum disorder. Gastrointestinal conditions that are reported to be common in individuals without ASDs are also encountered in individuals with ASDs and the existence of a GI syndrome specific to ASDs has not been established (Buie et al., 2010). In a 2002 study, nine percent of children diagnosed with autistic spectral disorder also presented with a GI disorder, however, this was not significantly different from a developmentally normal control group (Black et al., 2002). In contrast, others have found that GI problems were significantly more frequent in children with ASD versus typical developed control groups (Molloy et al., 2003; Parracho et al., 2005; Valicenti-McDermott et al., 2006) with prevalence rates ranging from 24%-90%. The frequency of GI disorders found within autistic children having a history of gastrointestinal disorders include: reflux esophagitis (69.4%), chronic gastritis (41.7%), chronic duodenitis (66.7%), and decrease activity intestinal carbohydrate digestive enzymes (58.3%). Diarrhea and constipation have also been reported with greater frequency in ASD children when compared to normally developed control groups (Parracho et al., 2006). The most common gastrointestinal symptoms and signs reported for persons with ASDs are chronic constipation, abdominal pain with or without diarrhea, and encopresis as a consequence of constipation. Other gastrointestinal abnormalities that have been described for individuals with ASDs include GERD, abdominal bloating, and disaccharidase deficiencies, as well as pathologic findings such as inflammation of the gastrointestinal tract and abnormalities of the enteric nervous system (Buie et al., 2010). Examining the Link between GI Disorders and Autism The first scientific evidence pointing to a causal link between gastrointestinal disorders and autism was found in a sample of children where GI symptoms had developed coincident with the onset of autistic behaviors (Wakefield et al., 1998; Wakefield et al., 2000), and confirmed by others (Ashwood et al., 2003; Buie et al., 2006). They concluded that a new form, or "new variant," of Inflammatory Bowel Disease (IBD) existed which included symptoms of abdominal pain, diarrhea, and bloating. These findings were not supported in other studies (Black et al., 2002; Fombonne et al., 2001) which found no association between developmental regression and gastrointestinal symptoms or any evidence of a "new variant" form of IBD/autism. Currently, interest within the scientific community has focused on the possible causal relationship between GI disorders and the onset of autism, and the significance of these disorders within this population. This interest has resulted in several clinical trials to date which have found conflicting results. The hypothesis that gastrointestinal pathology is central to the etiology of autism has been reported by some (Horvath et al., 1999; Wakefield et al., 1998), but not supported by others who conclude that there is not a significant association between GI illness in children and the development of autism (Black et al., 2002; Fombonne et al., 2001). Research has specifically examined the presence of GI inflammation, celiac disease, food intolerance, or recurrent GI symptoms in samples including autistic and non-autistic children to determine if significant differences exist but again with conflicting results. The results of which have led some to conclude that the presence of GI symptoms may simply be a secondary consequence found in individuals suffering from autism spectrum disorder as opposed to a causal etiological factor in the onset of autism in children. Overall, the research indicates that at minimum there exists subpopulations of pediatric patients diagnosed with ASD who exhibit and suffer from a variety of GI symptoms and are at risk for problem behaviors (Buie et al., 2010). These findings indicate the importance of screening these individuals for gastrointestinal symptoms and underlying GI disease processes which may contribute to behavioral problems, risk of malnutrition and/or delay physical and emotional development Professional Development Resources Autism Subtypes Page 20 of 45

21 Gastrointestinal Disorders Seen in Autistic Children Diarrhea Diarrhea is more accurately called a symptom as opposed to a disease or disorder of the GI tract and is the presence of loose watery stools occurring a minimum of three times in a twenty-four hour period. Normal stool contains between sixty and ninety percent water - if this percentage increases above ninety percent, diarrhea results. The cause of too much water in the stool results from the too rapid movement of the stool through the GI tract which prevents the large intestine from absorbing the water present in the stool, or if the large intestine secretes water into the stool. Further causes include malabsorption, in which food is not digested normally, can lead to diarrhea as well. Symptoms of diarrhea may include cramping, abdominal pain, bloating, nausea, or an urgent need to move the bowels. In children, acute episodes of diarrhea are common and rarely life threatening. The etiology of diarrhea comprises a number of illnesses and may be either acute or chronic. Infectious agents i.e. bacterial, viral, or parasitic are often the origin of acute diarrhea and may endure for one to three weeks depending upon the etiological agent. In children, the most common cause of acute diarrhea is the Rotavirus, which resolves within five to eight days. Non-infectious etiological factors of pediatric diarrhea include medications, food sensitivities and functional disorders especially irritable bowel syndrome (IBS). Normal childhood diarrhea typically only lasts a few days and resolves on its own without any special treatment. However, protracted diarrhea in autistic children may be a sign of some other source for the diarrhea. Autistic and non-autistic children alike are susceptible to the various complications that untreated diarrhea may lead to, such as dehydration due to the loss of fluid in the stool. Dehydration is a serious condition in newborns, infants and children as loss of fluid alters the sodium, potassium and chloride electrolyte balance, which may result in serious complications and death. If left untreated, dehydration in children can result in death within a few days. Therefore, identifying the cause of the diarrhea and implementing rehydration of the child is essential. The signs of mild, moderate and severe dehydration include (Canavan & Arant, 2009): Signs of mild dehydration: Dry eyes and crying with few tears or no tears Slightly dry mouth Fewer wet diapers than usual Less active than usual or irritable Signs of Dehydration Signs of moderate dehydration: Sunken appearing eyes Sluggish or lethargic Skin feels dry and not springy Signs of severe dehydration: In infants, sunken fontanelle (the soft spot on top of the head) No urine output in 6 hours When skin is pinched between fingers, it fails to spring back to its original shape Very lethargic or possibly unconsciousness The evaluation and treatment of diarrhea in children should include obtaining a complete medical history and physical examination. Infrequently diagnostic testing may be required especially in cases of acute diarrhea. However, with prolonged and unexplained diarrhea, which may sometimes occur in an autistic child, testing is indicated to rule out alternative causes and determine the most appropriate treatment regimen Professional Development Resources Autism Subtypes Page 21 of 45

22 Severity of dehydration should be determined at the onset due to the potential in severe cases of serious complications such as hypotension, arrhythmias, and metabolic acidosis. In severe cases of diarrhea, intravenous hydration may be indicated as well as testing of blood, urine and stool for diagnostic purposes to identify the cause of the diarrhea and determine the severity of the diarrhea. In mild to moderate dehydration, resting the bowels is no longer recommended as it is now believed that feeding will increase manageability of the diarrhea. Therefore, continued breastfeeding in babies is advised. For children eating solid foods, the BRAT diet, which includes a diet of bananas, rice, applesauce and toast, is no longer recommended. The BRAT diet was once a staple of most pediatricians' recommendations for children with an upset stomach. The idea was that it gave the gut a chance to rest and reduced the amount of stool produced. Because BRAT diet foods are low in fiber, protein, and fat, the diet lacks enough nutrition to help a child's gastrointestinal tract recover. The American Academy of Pediatrics now recommends that children resume eating a normal, well-balanced diet appropriate for their age within 24 hours of getting sick. That diet should include a mix of fruits, vegetables, meat, yogurt, and complex carbohydrates. Both children and adults need to drink plenty of fluids while they are sick to prevent dehydration. Water is good, but adding broth, a sports drink, or a rehydration solution such as Pedialyte can help replace lost electrolytes. Constipation A common condition found within the pediatric population is constipation, which is the infrequent movement of hard dry stool. Irregular or infrequent bowel movements in infants and young children may lead to difficulty in determining when a child is suffering from constipation. Frequency of normal bowel movements in infants and children may range from several per day to only once every three or four days. A diagnosis of constipation is usually determined if a child does not move their bowels for greater than five days. Diet is often a contributing factor of constipation in children. A diet low in fiber, the change from formula to solid food, and one characterized by only one or two foods may give rise to the development of constipation. Highly processed foods low in fiber also contribute to constipation as fiber adds bulk and holds water in the stool making it softer and easier to pass. If a restricted repertoire of eating behaviors including eating only one or two foods is common in the autistic child, and if these foods are low in fiber and or water content, these practices may lead to constipation. Pica, which is the consumption of non-food items such as paper, sand, or dirt may also contribute to constipation and is sometimes seen in autistic children. Emotional origins may also attribute to constipation and may be related to fear of pain from defecation or rebellion to toilet training. Other less common sources of constipation may be related to anatomical, physiological, or metabolic abnormalities. For example, structural or functional problems within the GI tract or hypothyroidism may be present and should be identified by the child s pediatrician. Additionally, common drugs given to children such as antacids, Phenobarbital, analgesics or codeine-based cough syrups may also contribute to constipation. Finally, the condition of constipation can have a cause and effect relationship as the consequence of constipation may make it painful to move the bowels and therefore prevent the child from doing so. Pain associated with GI disturbances may contribute significantly to behavior problems (Nikolov et al., 2009). Signs and Symptoms of Constipation: No bowel movement for several days or daily bowel movements that are hard and dry Cramping abdominal pain Nausea / Vomiting Weight loss Liquid or clay-like stool in the child's underwear, a sign that stool is backed up in the rectum 2010 Professional Development Resources Autism Subtypes Page 22 of 45

23 Source: (accessed July 15, 2010) Dietary treatment of constipation includes providing a diet that is high in fiber, fluid, and includes a variety of foods as well as reducing the opportunity for ingestion of non-food items. Ensuring that the child consumes more fruits, raw vegetables, bran, and whole-grain breads and cereals will prevent constipation from occurring. Ingestion of more fluids, especially water, is also recommended. In some children, too much cow's milk may contribute to constipation; therefore, in these children it may be necessary to reduce milk products in the diet. If a child is having difficulty transitioning to toilet training, it is important to assess readiness for toilet training and delay the change if the child is not emotionally prepared to do so. Source: (accessed July 15, 2010) Gastroesophageal Reflux Disease (GERD) Gastroesophageal reflux disease (GERD) is a condition in which the contents of the stomach flow backwards from the stomach to the esophagus. Recurrent episodes of reflux can result in symptoms of heartburn and inflammation of the esophagus. Inflammation of the esophagus is known as esophagitis and if left untreated ulceration, stricture, scarring, and occasional perforation may develop and become a life threatening condition. Reflux of stomach contents or regurgitation referred to as gastroesophageal reflux (GER) is prevalent in the infant population as over half of 2-3 month olds and two thirds of 4- month-old infants regurgitate their food daily. Almost all children have a small amount of reflux without resultant damage to the esophagus as the contents immediately returns to the stomach. However, when these acidic stomach contents remain in the esophagus, damage to the esophageal lining occurs and GERD ensues. The condition of GERD is only found in 8% of infants as diagnosed by an abnormally low stomach contents ph level. Reflux of overly acidic stomach contents results in GERD. In infants, GERD is more difficult to detect but frequent regurgitation, spitting up, or vomiting of food or liquid may be a sign of GERD. These symptoms typically present either at feeding or directly after eating. Infants may pull away from the food while children may act as if something is distasteful, and a sign of acid reflux. During normal digestion, the lower esophageal sphincter (LES) opens and closes to allow ingested foods and liquid to pass to the stomach. In infants, reflux can take place when the LES opens, and allow the stomach contents and acid to come back up into the esophagus. Further, as the refluxed material moves into the oropharnyx which may result in difficulty swallowing, vomiting or sore throat, if the contents are aspirated the child may have respiratory symptoms which include a chronic cough, recurrent pneumonia, or wheezing. Signs and Symptoms of GERD: Effortless emesis accompanied by frequent regurgitation in infants. Hiccoughs that last a long time and hard swallows are subtle signs of gastroesophageal reflux disease (GERD) in infants and young children. Nonspecific signs such as crying, irritability, sleep or feeding problems, arching of the back, and colic may suggest esophageal pain in infants. Infants may also demonstrate head tilting that can mimic torticollis, neck cocking, and opisthotonic posturing with arching of the back (Sandifer syndrome) or other neurobehavioral manifestations. Apnea, chronic respiratory illnesses (pneumonia, wheezing, stridor), and asthma exacerbation may be associated with chronic GERD. Food aversion and failure to thrive or weight loss are frequent manifestations. Abdominal pain, dysphagia, heartburn, and chest or epigastric pain may occur in older children and adolescents Professional Development Resources Autism Subtypes Page 23 of 45

24 SOURCE: - overview (accessed July 15, 2010) Various methods are suggested to reduce the occurrence of reflux. When feeding an infant, it is important not to overfeed and to frequently burp the infant during feeding. Holding the infant upright for at least 30 minutes following a feeding will also reduce the potential for reflux as well as ensuring that the infant sleeps on their back. In children, more frequent smaller meals are recommended and not eating a minimum of 2 or 3 hours prior to going to bed. Raising the head of the child s bed approximately 6 to 8 inches will reduce the likelihood of reflux while sleeping. Raising the bedposts is the preferred method as opposed to raising the child s head with pillows. Modifying the child s diet is also recommended and includes the avoidance of certain foods associated with reflux such as carbonated drinks, chocolate, caffeine, high-fat foods, and acidic foods. If the previous preventative measures are not successful in alleviating symptoms of GERD, further intervention may be indicated under the direction of the child s healthcare provider. Medication may become necessary if an infant or child has difficulty eating, sleeping or does not grow - although this is not the preferred treatment of choice. Two classes of medications exist to treat GERD and they are H2-blockers (also called H2-receptor agonists) and proton-pump inhibitors (PPIs). Each class of drug has its own unique pharmacological action that prevents acid reflux from occurring. The H2- blocker drugs work to prevent acid from moving into the esophagus while the PPI s prevent the production of stomach acid from occurring in the first place. The following table lists the drugs from each of these classes: Class H2-Receptors Proton-Pump Inhibitors (PPIs) Name Generic Brand Generic Brand Cimetidine Tagamet Esomeprazole Nexium Ranitidine Zantac Omeprazole Prilosec Famotidine Pepcid Lansoprazole Prevacid Nizatidine Axid Rabeprazole Aciphex Pantoprazole Protonix SOURCE NIH/NIDDK: (accessed July 15, 2010) (accessed July 15, 2010) Feeding Difficulties in Children with ASD Many parents of children with autism spectrum disorders (ASD) report anecdotally that their children have feeding difficulties and/or unusual eating patterns but there are relatively few research studies that have addressed this issue. There are many possible reasons why children with autism could benefit from a thorough nutrition assessment/ evaluation to determine nutritional status including developmental problems that interfere with their ability to eat, sensory integration problems that make it difficult to consume foods with varying texture, consistency and/or appearance, nutritional deficits due to selective eating, weight issues including failure to thrive and malnutrition, and drug therapy which creates nutrient interaction problems (Schwartz, 2003; Buie et al., 2010). For this reason, the CDC and the American Academy of Pediatrics recommends that parents who are considering dietary treatment for autism talk to their health care professional and/or a Registered Dietitian (RD) to be sure that the child is meeting their nutrient needs (US Department of Health and Human Services, CDC, and Autism Information Center). Prevalence of feeding problems has increased in children with autism, with prevalence rates as high as 90% (Kodak & Piazza, 2008) and close to 70% are described as selective eaters (Twachtman-Reilly et al., 2008). Increasingly, parents are investigating supplements and alternative diet strategies and it is important for clinicians to understand the potential interactions these may have with common prescription medications used for treating autism Professional Development Resources Autism Subtypes Page 24 of 45

25 The use of a nutrition/dietetics professional on the treatment team can insure that this is done. The American Dietetic Association states in its position paper on providing services to children with developmental disabilities Services provided by an RD or DTR are essential to the health of clients with special needs. Practitioners should develop or adopt effective and individualized nutrition screening, assessment, and monitoring tools. A nutrition assessment should target some of the variations found in physical growth. Evaluation of feeding skills is an important component of the assessment and intervention program. The goal of the feeding program may be to achieve independence without placing the client at nutrition risk (Position of the American Dietetic Association, 2010). Identification of Feeding Problems Some researchers have suggested that early feeding difficulties in infancy may in fact be an early sign of autism (Keen, 2008; Laud et al., 2009; Twachtman-Reilly et al., 2008). In 2006, a review study was published which focused on the evidence from 1994 to 2004 on incidence and treatment of feeding difficulties in autistic children (Ledford & Gast, 2006). Seven descriptive studies were identified which provided information about feeding problems in children with ASD (Ahearn et al., 2001; Bowers, 2002; Collins et al., 2003; Cornish, 1998 and 2002; Schreck et al., 2004; and Field et al., 2003). All of these descriptive studies found evidence of substantial feeding problems in children with ASD and all reported food selectivity by type and texture. Several found additional food selectivity by brand or type and by presentation or appearance. Feeding Problem Interventions Food selectivity may be a problem due to potential subsequent nutritional deficits depending on the amounts and types of foods routinely excluded. Other substantial feeding problems included food refusal, failure to eat usual family meals, eating too fast or too slowly, obsessive eating patterns, lack of acceptance of new or unfamiliar foods, and inappropriate mealtime behaviors (Ledford & Gast, 2006). In addition, Buckley and Newchok (2005) reported a case of food packing in a nine-year-old female child with ASD. Food packing is a specific feeding-related behavior characterized by retention of food in the mouth for protracted durations. Significant health problems such as malnutrition, failure to thrive, or dehydration may occur if packing results in insufficient intake. From a practical standpoint, packing may prolong meal durations excessively, thus undermining potential feeding efforts or interfering with the child's opportunities to participate in learning or social activities (Buckley et al., 2005). Overall, Ledford and Gast (2006) reported problem feeding behaviors in 46-89% of children with ASD. Nine intervention studies were reviewed by Ledford and Gast (2006) and included a total of 18 children with ASD. Eleven of these participants had a diagnosis of autism and seven had a diagnosis of PDD-NOS. Ages of participants ranged from 4 years to 14 years, with a mean age of 7 years 3 months (individual age data were not included for 6 participants). Thirteen (72%) of the participants were boys, and five (28%) of the participants were girls. One participant was reported to have medical problems related to feeding, including gastroesophageal reflux (GERD) and delayed gastric emptying (Ahearn et al., 2001). Two participants were reported to have current or previous medical problems related to inadequate dietary intake, including weight loss and dehydration (Freeman & Piazza, 1998; Piazza et al., 2002). Of the nine intervention studies reviewed, all reported successful treatment of feeding problems in children with ASD. A variety of approaches, including simultaneous presentation, sequential presentation, differential reinforcement of acceptance, stimulus fading, escape extinction, and appetite manipulation, were studied in isolation or in combination. These studies were conducted by behavior specialists, and these techniques would be suggested to parents seeking help from mental health professionals such as psychologists or mental health counselors. More recent research has shown that strategies based on applied behavior analysis can increase appropriate behavior and decrease inappropriate behavior in children with autism (Kodak & Piazza, 2008) Professional Development Resources Autism Subtypes Page 25 of 45

26 Feeding Behavior Change Techniques An example of simultaneous presentation of foods involves putting all the food to be eaten on a spoon at once with the test food at the tip and the reward food behind it. For example, ground carrot at the tip followed by ground chocolate chip cookie. Sequential presentation involves placing the less likely to be eaten food first followed by the more likely to be eaten food with a contingency that if the first food is tasted or eaten, and then the sequential food will be provided. For example, asking the child to take a bite of carrots and then the child can have some ice cream. An example of differential reinforcement of acceptance would be if a preferred video was shown before eating and then turned off. During the trial, when a food was tried or eaten, the video would be played for a specified period. In stimulus fading, the overall goal is for the child to eventually not need prompts to eat. The least intrusive prompts are used so the child does not become overly dependent on them when learning a new behavior or skill. Prompts are gradually faded out as new positive eating behavior is learned. For example, learning to unscrew the toothpaste lid may start with physically guiding the child's hands, to pointing at the toothpaste, then just a verbal request. The same method can be used when trying a new food, guiding the child s hand to pick up a fork or spoon with the food, pointing at the food on the plate, and then finally just asking the child to try a bite. A recent study reported that differential reinforcement of alternative behavior, non-removal of the fork and stimulus fading, increased consumption of nonpreferred food for one child with autism in two settings and with caregivers (Valdimarsdottir et al., 2010). In using escape extinction in feeding, non-removal of the spoon and physical guidance are both used as preventions from escaping from the feeding situation. The thought is that feeding problems are maintained by negative reinforcement in the form of escape from the feeding situation. If a child refuses to eat or creates a fuss about eating a particular food, not having to eat it or escaping from the stressful situation constitutes a reward. Using appetite manipulation, new foods are only presented when the child is hungry to increase the likelihood of trial behaviors. This is often difficult for parents who are concerned that the child may not get the nutrition they need if food is withheld to the point of physical hunger before new or unfamiliar foods are tried. Another new technique that is being examined in studies is using new technology to manipulate eating. One innovative study focused on rapid eating in three autistic teenagers using pagers. Rapid eating was decreased when the teens were taught to eat only following vibrations from the pager (Anglesa, Hoch, and Taylor, 2008). Overall, the results of these studies looking at behavioral feeding techniques demonstrate the availability of a wide range of effective intervention strategies for treating feeding acceptance and consumption problems exhibited by children with ASD. The most common procedure used to treat feeding problems was differential reinforcement contingent on appropriate eating behaviors. Researchers also paired differential reinforcement with other procedures, including simultaneous or sequential presentation (Freeman & Piazza, 1998), stimulus or demand fading (Freeman & Piazza, 1992; Najdowski et al., 2003), appetite manipulation (Levin & Carr, 2001; Piazza et al., 2002; Kern & Marder, 1996), and escape extinction (Ahearn, 2002; Ahearn et al., 2001; Anderson & McMillan, 2001; Freeman & Piazza, 1998; Najdowski et al., 2003; Piazza et al., 2002). In addition, three books that discussed feeding problems in children with autism and targeted a lay audience were reviewed by Ledford & Gast (2006). One of these books (Legge, 2002) was an entire book written by a parent of an autistic child devoted to feeding problems in children with autism. In the other two books, (Ives & Munro, 2002; Koegel & LaZebnik, 2004) there was only a section devoted to feeding problems. All three books explicitly stated that they were written to help parents of children with autism Professional Development Resources Autism Subtypes Page 26 of 45

27 Ledford & Gast (2006) reported that the procedures reviewed in the empirical literature were not the same procedures that were reviewed in the books written for the lay public. Many of the research studies implemented more invasive procedures, such as physical guidance of the hand and non-removal of the spoon with food. By contrast, the books written by parents used different techniques such as the Premack principle, shaping, simultaneous presentation with fading, multiple presentations of non-preferred foods, and social modeling. Additional research using these procedures, which parents reported to be effective, would help to clarify which procedures are most effective for treating feeding problems in children with ASD. All three reviewed books reported the Premack principle to be effective. This is a principle of operant conditioning originally identified by David Premack in According to this principle, some behavior that happens reliably (or without interference by a researcher), can be used as a reinforcer for a behavior that occurs less reliably. For example, most children like to watch television--this is a behavior that happens reliably (they learn to like TV all on their own and it is something they will do willingly without any interference from their parents)--and parents often use this behavior to reinforce something children like to do less such as cleaning their room. So, some parents might condition children to clean their room by rewarding room cleaning with watching television. This procedure was often paired with shaping, another parent-reported successful technique (Koegel & LaZebnik, 2004). For example, a child might first only have to smell a new food, later would be required to lick it, and then asked to eat increasingly larger portions. This technique is also used in research, however there it has been typically used along with a more invasive technique such as escape extinction. Another procedure that parents often reported as useful for treating problem feeding behavior in children with ASD is simultaneous presentation (Ives & Munro, 2002; Koegel & LaZebnik, 2004; Legge, 2002). Although there are only a few instances of this procedure in published studies (Ahearn, 2002; Kern & Marder, 1996; Piazza et al., 2002), its anecdotal success is somewhat different. In particular, many instances of success reported by parents involved the use of fading, in which such a small amount of the non-preferred or new food is first mixed in with the preferred food so that its presence is indiscernible to the child (Ives & Munro, 2002; Koegel & LaZebnik, 2004). The children thus were unaware that they were eating a new food when the parentreported simultaneous procedure was used. For example, if a child prefers juice and refuses water, a small amount of water can be added to a cup of juice. Over time, the amount of water added can be increased until the child drinks water alone. Still another procedure reported to be effective in treating food selectivity is multiple presentations of non-preferred foods (Legge, 2002), in which parents continue to present a rejected food over many trials (even months). Eventually, the child will become less fearful of the novel food when it becomes familiar. This is a common strategy for other families with children without ASD and familiarity is commonly considered to occur after a child has had at least ten exposures to a new food item. For some children with ASD, parents have reported success in treating feeding problems with social modeling, which involves peers or family members serving as examples of appropriate eating behavior (Ives & Munro, 2002; Legge, 2002). Other, less reported procedures that have been effective according to parents include use of visual cues (Ives & Munro) and menus (Legge, 2002). Ledford & Gast (2006) reported that the most important difference in the research and the reviewed books was the emphasis on the social implications of atypical or problem feeding patterns. The research studies focused on improving food acceptance and increasing the amount of non-preferred or disliked food consumed, while the books focused on helping children to have more socially acceptable eating habits. Because children with ASD often have a number of other traits that result in poor social acceptance, successfully addressing feeding problems could result in improved social acceptance in important settings such as school cafeterias, birthday parties, and restaurants Professional Development Resources Autism Subtypes Page 27 of 45

28 Traditional Recommendations for Feeding Problems Ellyn Satter, author of How to Get Your Child to Eat but Not Too Much (Satter, 1987) identified the separate responsibilities related to eating of parents and children. The parents are responsible for choosing and providing the meals and/or snacks and it s up to the child whether and how much they will eat. This division of responsibility works well for most families as it removes the fighting about how much and what is eaten and children are encouraged to try new foods at times or learn to wait for the next meal if no food is acceptable at meals. Because food selectivity is a characteristic that occurred in all of the studies, strategies for increasing the variety and number of foods eaten are important. The following traditional strategies are discussed in Brenda Legge s book, Can t Eat Won t Eat- Dietary Difficulties with Autism Spectrum Disorders (Legge, 2002). Involvement in Food Preparation The theory is that children who are involved in the growing, selection, and or preparation of food are more likely to eat it. Although, there have not been any studies that have addressed this for children with ASD, the books written by parents report this is not a helpful practice. Anecdotal reports indicate that children with ASD will participate in these activities, but participation has no relation to whether or not the child will accept the food. Peer Pressure Anecdotal reports of peers and adults modeling food behavior indicate that this strategy may not be particularly effective in children with ASD. Parents describe their children with ASD as not being affected by hunger or thirst to eat or drink. Foods and beverages that are initially acceptable fall into a narrow range; however, behavioral strategies such as the Premack principle and shaping may help to increase the variety of foods and/or beverages consumed over time. Making Choices Children with ASD need structured environments and having to choose what to eat may reduce the chance of a meal happening. Remember the division of responsibility. Parents should select and provide the food, it s up to the child how much and what to eat of what is provided. Conclusions Practitioners who are working with families and children with ASD should be encouraged to consider whether the treatments they are using to deal with feeding difficulties are evidence-based. Review articles such as Ledford & Gast (2006) and the newer guidelines from the American Society for Pediatrics (Buie et al., 2010) are very helpful in understanding the evidence from the variety of studies that have been done. Feeding difficulties get no better or worse without treatment. However, they can and do impact nutritional status. Parents should seek treatment as soon as the problem occurs because these problems can lead to nutritional deficits that affect growth rates and the risk is greatest in children under age five (Cornish, 1998). Little is known about how early and ongoing poor eating habits and nutrition affect the motor, cognitive, and behavioral development of children with autism. This is an important area for future research (Volkert & Vaz, 2010) Professional Development Resources Autism Subtypes Page 28 of 45

29 Nutritional Considerations in Autism Spectrum Disorders The importance of nutrition in autism is twofold. One major role is to provide nutritionally adequate diets that will promote growth, overall health, and well-being. This is accomplished by consuming a wide variety of foods from all of the major food groups. Children with autism have the same nutritional requirements as non-autistic children at the same weight and height. Yet, achieving nutritionally adequate diets is often much more difficult for these children due to feeding issues, oral-motor development, communication problems and a host of other problem behaviors mentioned earlier in this course. The second possible role of nutrition in autism is to correct nutritional problems or deficits using complementary and alternative medicine (CAM). However, many of these potential treatments have little or no scientific evidence to validate their efficacy. Despite limited controlled studies, alternative approaches are increasing in popularity with the most popular being diets that eliminate either gluten or casein or both. The following discussion will provide what is currently known about these approaches along with many other treatment options currently being tested by those affected by the autism spectrum. Unusual Food Preferences & Sensitivities Children with autism and related disorders may have unusual eating habits. Many have pronounced likes and dislikes when it comes to food. Sometimes these habits prevent a child from having a nutritionally sound diet. Some children are sensitive to certain food textures, tastes, smells, or colors. Other children may eat only certain kinds of food (such as foods that are soft and mushy). Often these children may resist new foods or may not tolerate foods of certain temperatures and consequently may eat the same foods repeatedly, limiting nutrient intake. Because of a heightened focus on the food itself and less interest in the social aspects of mealtimes, children on the autistic spectrum may be less likely to eat a variety of nutritious foods and mealtimes can create family discord (Volkmar & Wiesner, 2004). Limitation of food intake over the long term can result in nutritional deficiencies. For this reason food aversions should be considered when trying to determine the reason a child with ASD refuses certain foods. An aversion may be present because of a previous noxious event that occurred after eating a specific food. For example, if a child becomes ill after eating a tomato, the child may then avoid all red foods (Buie et al., 2010). Consequences of avoidance of entire food groups such as dairy products may include problems in development of normal bones and teeth. The reasons for these food aversions or unusual food preferences are not always easy to understand (Volkmar & Wiesner, 2004). Nutrition Assessment Not surprisingly, nutritional deficiencies have been reported in patients with ASDs due to the above-mentioned reasons. Using 3-day food records, Herndon et al., (2009) compared the consumption of macro- and micronutrients and food group servings of children with ASDs to age and gender matched controls. Their results showed that children with ASDs consumed significantly more vitamin B6 and E and non-dairy protein servings, less calcium and fewer dairy servings. Both groups had a large proportion of children who did not meet the national recommendations for daily intake of fiber, calcium, iron, vitamin E, and vitamin D. Healthcare professionals and parents of children with ASDs, especially children with dietary restrictions, need to be aware of the potential for nutritional deficiencies. Evaluation by a Registered Dietitian who is familiar with nutrition support for ASD is recommended (Buie et al., 2010). Every child on the Autistic Spectrum should be evaluated for nutritional status by their primary care physician. This assessment should include (Buie et al., 2010): 1. Weight for height or BMI 2. Weight for age 3. Height for age 4. Any unmarked changes in growth rate (percentiles) 2010 Professional Development Resources Autism Subtypes Page 29 of 45

30 In general, height, weight, and growth are within normal limits for children with autism even for children who tend to be picky eaters. The one interesting exception has to do with head circumference. At least some children with autism spectrum disorders (but not Rett syndrome) develop larger than usual head size. This observation of macrocephaly (big head size) is a relatively recent one and researchers are trying to understand its significance (Volkmar & Wiesner, 2004). Because height and weight can vary considerably among children of the same age, the important thing to monitor is growth rate. Growth charts that allow for serial plotting of height and weight are used to determine whether the child s growth is falling in the recommended percentile over time. Abnormalities in nutritional status (wasting, stunting) or changes in growth rate could indicate inadequate caloric intake, poor nutritional quality of the diet, malabsorption, or maldigestion (Buie et al., 2010). A referral to a Registered Dietitian is warranted. Obesity Children with autism and related disorders can be at risk for obesity for several possible reasons. For some children, food is a very effective reinforcement and the child demands snacks and treats. Unrestricted access to food may also create excess calorie consumption. Other children never seem to reach the point of feeling full and continue to eat until interrupted. Medications used for emotional or behavioral difficulties (such as risperidone) may actually stimulate the appetite and lead to weight gain. They may also reduce levels of physical activity, further compounding the problem (Volkmar & Wiesner, 2004). In addition, a lack of interest in team sports and/or physical activity results in children with autism not burning enough calories to prevent excessive weight gain. The risk for becoming overweight or obese tends to increase for children with autism in the teenage years (12-19) compared to the general population (Buie et al., 2010). Pica Children with autism may eat non-food substances, which is known as pica. Non-food substances may include dirt, paint chips, string, or anything else they find on the floor. Others chew on these materials or keep them in their mouths without swallowing them (or sometimes swallow them by mistake). Still other children may be tempted to eat the leaves of plants (some of which are poisonous). Some may even eat their own feces. These behaviors can be a problem for any toddler, but can be a more persistent problem in children with developmental delays. It is unclear why pica is more common in children with autism spectrum disorders although it probably reflects more general problems with cognitive development. Pica also occurs in children with mental retardation who do not have autism. Pica can lead to medical problems such as bowel obstruction, poisoning, and infection (Volkmar & Wiesner, 2004). Rumination Rumination is an eating disorder characterized by having the contents of the stomach drawn back up into the mouth, chewed for a second time, and then swallowed again. In some animals, known as ruminants, this is a natural and healthy part of digestion and is not considered an eating disorder. However, in other species (including humans), such behavior is atypical and potentially dangerous as the esophagus can be damaged by frequent exposure to stomach acids. Rumination has been reported in children with autism as well as developmentally normal children and adults. The causes of rumination are not clear but are thought to begin due to gastrointestinal disorders and continue due to the self-stimulatory rewards the individual experiences. Behavioral interventions may be appropriately designed and implemented once medical issues have been thoroughly addressed (Wheeler, 2004) Professional Development Resources Autism Subtypes Page 30 of 45

31 Dental Issues Although commonly used medications and oral habits such as rumination can cause problems, the rates of caries and periodontal disease in people with autism are comparable to those in the general population. Communication and behavioral problems pose the most significant challenges in providing oral care. Obsessive routines, repetitive behaviors, unpredictable body movements, and self-injurious behavior may all be symptoms that complicate dental care (NIH, 2006). So, even though children with autism are not predisposed to dental problems, they do remain at increased risk for them due to the same symptoms of autism that complicate other aspects of healthcare. Simply going to the doctors office can be a major issue and may be particularly difficult due to the child s unusual sensitivities (smell, taste or grittiness of toothpaste), difficulties with oral defensiveness (an unwillingness to have things in the mouth), or difficulties with attention (making it difficult to sit for a long period of time in a dental chair). All children and adolescents need to take care of their teeth to avoid problems with cavities, abscesses, and gum disease. Proper dental care is even more important if a child is receiving a seizure medication, such as Dilantin, which can cause changes in the gum and mouth (Volkmar & Wiesner, 2004). Occupational and speech therapists can often help a child learn to tolerate tooth brushing or other oral motor activities. The dentist may offer specific treatments or applications of fluoride to help children avoid cavities. It is critical to enlist the help of everyone on the child s healthcare team to make prevention and good dental hygiene a part of daily life. Dysphagia Dysphagia is a medical term defined as difficulty swallowing and is common in children with ASD, presenting nutritional deficiencies that can affect growth and development and health in general. It is a sensation that suggests difficulty in the passage of solids or liquids from the mouth to the stomach and it presents itself in varying ways, including food selectivity or refusal and disruptive mealtime behavior. Dysphagia commonly involves coexisting gastrointestinal conditions including reflux, constipation, absorptive function or leaky gut. Assessment goals include documenting safety of swallow function, assessing the need for diet/food modification, identifying supplemental nutritional supports, diagnosing GI symptoms contributing to eating problems, and formulating objectives for achieving desired outcomes. Treatment should utilize a multidisciplinary team approach to evaluate the dysphagia and devise a plan to manage GI problems, improve nutrition, and advance food intake at feedings (Kirk, 2006). Vitamin/Mineral Supplementation Because the gastrointestinal system is often compromised in autistic children, medical professionals may recommend nutrition supplements in addition to dietary changes. Parents may also utilize various supplements based on information they obtain from other sources. Advocates of vitamin/mineral therapy suggest that they may enhance neurotransmitter action by increasing availability of substrate or cofactors (Hyman & Levy, 2004). Working with a Registered Dietitian, who can critically evaluate the supplements and help parents ensure their child is receiving a nutritionally adequate diet, is recommended (Buie et al., 2010) Professional Development Resources Autism Subtypes Page 31 of 45

32 Vitamin B6 & Magnesium Supplementation with B-6 (pyridoxine) has been promoted as a treatment for autism because of its role in the generation of several neurotransmitters (serotonin, dopamine, gamma amino butyric acid, norepinephrine, and epinephrine). Advocates suggest administration of B-6 in combination with magnesium will increase clinical response. High-dose pyridoxine treatment (200 to 500 mg/d) may cause peripheral sensory neuropathy, indicated by a decline in fine motor skills or an increase in hand shaking or other repetitive movement. Proponents of B-6 supplementation note that side effects have not been reported in children with ASD. Long-term studies are lacking (Hyman & Levy, 2004). B-6 is often administered in proprietary megavitamin mixtures. Families may not realize that other supplements may contain the same ingredients or that vitamins may be toxic at high doses. The potential toxicity of magnesium should be noted. A fatal overdose of magnesium was reported in a child with cerebral palsy and seizures (Hyman & Levy, 2004). Families should be counseled not to exceed recommended doses and to be sensitive to potential side effects, such as skin reactions, allergic reactions, nausea, vomiting, drowsiness, abdominal pain, loss of appetite and headaches (Mayo Clinic, 2006). The RDA recommends the average daily intake that is sufficient to meet the nutrient requirements of nearly all (97-98%) healthy individuals in each age and gender group. The RDAs for vitamin B-6 and magnesium are listed below. Recommended Daily Allowances (RDAs) for Vitamin B-6: (Mayo Clinic, 2006) 0-6 Months 7-12 months 1-3 years 4-8 years 9-13 years years years 51+ years Females 0.1 mg/day 0.3 mg/day 0.5 mg/day 0.6 mg/day 1 mg/day 1.2 mg/day 1.3 mg/day 1.5 mg/day Males 0.1 mg/day 0.3 mg/day 0.5 mg/day 0.6 mg/day 1 mg/day 1 mg/day 1.3 mg/day 1.7 mg/day Recommended Daily Allowances (RDAs) for Magnesium: (NIH, 2005) 0-6 Months 7-12 months 1-3 years 4-8 years 9-13 years years years 31+ years Females 30 mg/day 75 mg/day 80 mg/day 130 mg/day 240 mg/day 360 mg/day 310 mg/day 320 mg/day Males 30 mg/day 75 mg/day 80 mg/day 130 mg/day 240 mg/day 410 mg/day 400 mg/day 420 mg/day According to a recent online survey, approximately 30% of parents give their autistic children a supplement of magnesium and vitamin B6 (Green et al., 2006). The results of research studies are mixed; some children respond positively, some negatively, some not at all or very little (Strock, 2004). There is no standardization of magnesium and vitamin B6 dosages or types of magnesium used in supplements. The aim of magnesium supplementation is the normalization of low levels in tissues. Appropriate assays such as erythrocyte magnesium measurements should be used in dose ranging studies. Dimethylglycine (DMG) Pantothenic acid, which was once marketed as vitamin B-5, is available as a food supplement called dimethylglycine (DMG). It is a nutritional supplement that may have excitatory central neuroactive effects similar to those of the excitatory neurotransmitter, glycine. References to an older report from Russia suggest children with developmental disabilities increased expressive language skills when their diets were supplemented with DMG. One small, double-blind study reported negative findings in boys with autism treated at modest doses. One child in the experimental group experienced hyperactivity (Hyman & Levy, 2004) Professional Development Resources Autism Subtypes Page 32 of 45

33 Parental testimonials attest to the efficacy of DMG supplementation in reducing behavioral problems and improving language use in children with autism. However, in a 2001 double blind, placebo-controlled trial of 37 children with autism, Kern and colleagues found no statistical difference in behavior between children who received DMG and those receiving the placebo. In fact, an improvement in overall behavioral measures was seen in both DMG and placebo groups. These findings suggest that a strong placebo effect may exist, not only with this particular supplement, but perhaps with other interventions supported by testimonials (Elder, 2002). Vitamin C (Ascorbic Acid) Vitamin C has been suggested as a treatment for ASD because it inhibits central dopamine action, which may be abnormally increased in ASD (Hyman & levy, 2004). Potential side effects of high dose vitamin C include renal stones, diarrhea, and rebound deficiency if abruptly discontinued. A study employing a double-blind, placebo-controlled trial utilized 8 grams per 70 kilograms body weight per day of oral vitamin C in two or three divided doses in institutionalized autistic children (McGinnis, 2004). Psychometric testing demonstrated improvement in the children receiving the vitamin C supplementation versus the children receiving the placebo. Improvement in pacing, flapping, rocking, and whirling behaviors corresponded to vitamin C manipulation and a group of strong responders were described as obvious to the investigators. No serious side effects were reported in this study, but clinicians report excessive stool softening or diarrhea can limit vitamin C dosing in some autistic children. Zinc Participating in numerous metabolic pathways, this essential mineral is crucial to organ development and maintenance. Serotonin synthesis relies on zinc-activated enzymes and zinc is also central to antioxidant enzyme function. Breeding experiments with rodents indicate maternal zinc deficiency can negatively influence immunity and brain development (Kidd, 2003). It has been hypothesized that there is a significant difference in the copper/zinc ratio between young children who have autism and their typically developing peers. Penn State University is currently recruiting patients to participate in a study titled Evaluation and Treatment of Copper/Zinc Imbalance in Children with Autism. The hypothesis to be tested is whether correction of elevated copper to zinc ratios in children with autism can be accomplished by oral supplementation with zinc and vitamin C and if these children show measurable and significant changes in receptive or expressive language or behavioral parameters associated with autism. Source: (accessed July 19, 2010). Vitamin A Some have proposed that administration of high-dose vitamin A as cod liver oil might improve immune function in autism. This treatment is reportedly under study, but no data are available at present. Hypervitaminosis or excess vitamin A may cause anorexia, dry skin, liver toxicity and hepatosplenomegaly, increased intracranial pressure, irritability, and carotenemia. Birth defects may also occur with excessive maternal intake of vitamin A during pregnancy (Hyman & Levy, 2004). Food Allergies A retrospective analysis of ASD children evaluated in a pediatric allergy/immunology clinic found that allergic diseases are prevalent in ASD children, with a frequency equivalent to that in the general population (Jyonouchi, 2010). Allergic conditions are easily treatable; however, children with ASD may be underdiagnosed and/or undertreated due to their impaired communication skills, aberrant behavior and lower tolerance to diagnostic measures. Healthcare providers should be aware that the pain and discomfort associated with allergic diseases can aggravate behavioral symptoms and impact cognitive ability in children with ASD (Jyonouchi, 2010) Professional Development Resources Autism Subtypes Page 33 of 45

34 The possible presence of an allergic disease can be identified through a detailed history and physical examination. A positive history of allergic disease in parents and siblings is a significant risk factor for the development of allergies. If presence is suggested, patients should undergo appropriate allergy testing (e.g. skin testing, measuring allergen-specific IgE levels, elimination diets, food challenges) and gastrointestinal evaluation (including laboratory testing and endoscopy, if indicated) (Buie et al., 2010). Allergic reactions can be divided into two categories (Jyonouchi, 2010): 1. Immediate reactions (IgE-mediated) - results in an acute onset of allergic symptoms 2. Delayed-type reactions (non-ige-mediated) - allergic symptoms manifest hours after exposure Typically, children begin their sensitization to food allergens during the first two years of life. Foods such as milk, egg, soy, and grains cause IgE-mediated type allergies in children, but are often outgrown. Allergic reactions to peanuts, tree nuts, fish, and shellfish tend to remain. Non-IgE-mediated reactions to food proteins are usually outgrown in the first few years of life. However, in children with ASD, resolution of non-ige-mediated reactions may be delayed due to underdiagnosis at a young age (Buie et al., 2010). Gastrointestinal symptoms frequently presented in ASD children include diarrhea, loose stool, GI cramping and constipation alternating with diarrhea and bloating. Both types of allergic reactions need to be considered as underlying medical conditions given these symptoms, and since they occur more frequently than other causes (metabolic disorders, genetic/infectious causes, neurological causes and autoimmune conditions). The possibility of food allergy should be ruled out before considering these less common causes (Jyonouchi, 2010). The presence of GI symptoms and a positive family history of allergies can help physicians determine if a patient should try dietary modifications. Dietary Modifications Dietary modifications, such as removing milk from the diet to treat symptoms of lactose intolerance, have become increasingly popular in the treatment of autism due largely to anecdotal reports. Few studies have examined the effects of such modifications, and data are difficult to assess. Many dietary modifications are believed to have beneficial outcomes, yet placebo effects are high. There is currently no recommendation as to how long to "try" a certain dietary modification, so parents and care providers should agree on objective measures and a reasonable time frame before embarking on restrictive or unusual diets (Buie et al., 2010). Science & Theories During digestion, food proteins are broken down into smaller peptides that the body can absorb. Some of these peptides interact with opiate receptors in the brain inducing a calming or pain-numbing feeling. Two such peptides are gluten (found in soy and wheat products) and casein (found in dairy products). This is why a warm glass of milk can help people go to sleep at night; the casein proteins break down into peptides that interact with the brain s opiate receptors, causing people to feel sleepy (Reid, 2004). This peptide-receptor interaction is a normal function of the body - but for children with autism, the effect may be different. Some theorize these peptides create a change in neuropeptides that makes it difficult to focus or be entirely aware of their surroundings. Reactions to peptides derived from gluten and casein may also cause severe headaches, prompting some children to engage in head-banging or other harmful behaviors (Reid, 2004). Another theory is the leaky gut syndrome (LGS). Leaky gut syndrome essentially represents a hyper-permeable intestinal lining where bacteria, toxins, and food particles can leak through. The official definition is an increase in permeability of the intestinal mucosa to luminal macromolecules, antigens and toxins associated with inflammatory degenerative and/or atrophic mucosal damage (ARU, 1997). It is suggested that autistic individuals experience leaky gut possibly due to a viral infection (e.g., measles), yeast infection (i.e., an overgrowth of candida albicans), and a reduction in phenol sulfur 2010 Professional Development Resources Autism Subtypes Page 34 of 45

35 transferase (PST; which lines the intestinal tract and protects it from leakiness). There is also some speculation that heavy metals in the intestinal tract can weaken membranes and this, in turn, can cause leaky gut (Edelson, 2002). Advocates of this theory suggest that this phenomenon may also be caused by a variant of celiac disease, a side effect of yeast overgrowth, a primary immunologic abnormality, or enterocolitis as a sequela of immunization (Hyman, 2000). However, the American Academy of Pediatrics recent review reported abnormal gastrointestinal permeability in individuals with ASDs has not been confirmed and the presence of increased intestinal permeability has not been correlated with any underlying gastrointestinal disorder or neuropsychiatric manifestations (Buie et al., 2010). Gluten-Free, Casein-Free (GFCF) Diet The gluten-free and casein-free (GFCF) diet is a form of alternative treatment popular among parents of children with ASDs. A gluten-free, casein-free (GFCF) diet is a restrictive diet which entirely eliminates intake of the naturally occurring proteins gluten (found in wheat, barley, and rye) and casein (found in milk). The GFCF diet is recommended by advocacy groups to reduce the prevalence of certain behaviors associated with pervasive developmental disorders, especially autism. The implementation of a GFCF diet involves removing all sources of gluten and casein from the diet. This can prove challenging since gluten and casein are found in many of the foods we eat. Gluten is found in all products containing wheat, rye, and barley and may sometimes contaminate oats grown nearby or processed on the same equipment as gluten-containing cereals. Because a gluten-free diet is a well-established treatment for other disorders, such as celiac disease, there are many gluten-free breads, pastas, snacks, and cookbooks available commercially. Casein is found in dairy products such as milk or butter, but is also present in smaller amounts in many substitute dairy products such as margarine (in the form of whey) or vegetarian cheese substitutes that use casein to provide texture. Children treated with the GFCF diet require medical surveillance. Calcium, vitamin D, protein intake, and iron status need to be monitored. The child on a restricted diet may be at increased risk for rickets and supplemental calcium and vitamin D are indicated. A Registered Dietitian can help the family meet the child s nutritional needs while restricting exposure to casein and/or gluten. Anecdotal testimonials report symptoms similar to withdrawal in the early stages of GFCF diet implementation. Testimonials also vary in the time required to see improvements in autistic behaviors with some reports claiming an immediate reduction in behaviors while others take up to a year or more to achieve noticeable results. These observations are the result of parent and teacher reporting and have not been substantiated in terms of formal diagnostic criteria or quantitative behavioral assessments. Origins of the GFCF Diet The possible relationship between gluten, casein, and autism was first described by Reichelt (1991). Based on studies showing correlation between autism and increased urinary peptide levels, Reichelt hypothesized that some of these peptides may have an opiate effect. Further work determined opioid peptides, such as casomorphines (from casein) and gluten exorphines and gliadorphin (from gluten) as probable suspects due to their chemical similarity to opiates. Reichelt hypothesized that long term exposure to these opiate peptides may have effects on brain maturation and contribute to social awkwardness and isolation in children with ASD. On this basis, Reichelt and others have proposed a gluten-free, casein-free diet to minimize the buildup of opiate peptides and promote normal development of brain function. Effectiveness of the GFCF Diet The efficacy of the GFCF diet in children with ASDs has not been established. Reports on the effectiveness of the GFCF diet come overwhelmingly from testimonials of individual parents or teachers. A review of seven trials on gluten/casein diets found design flaws in all of the studies, which weakens the confidence of their findings (Christison & Ivany, 2006) Professional Development Resources Autism Subtypes Page 35 of 45

36 Six of the trials were uncontrolled and one used a single-blind design. All reported efficacy in reducing some autistic symptoms and two groups of investigators also reported improvement in nonverbal cognition. Elder et al., (2006) conducted a double-blind, placebo-controlled crossover trial of the GFCF diet in 15 children with ASD and found no differences in measures of severity of ASD symptoms, communication, social responsiveness, and urinary peptide levels after 12 weeks. Despite these results, 9 parents reported positive subjective clinical changes and wanted to continue the diet (Buie et al., 2010). For children with ASD who experience GI symptoms, an improvement in certain behaviors is often reported following implementation of the GFCF diet. These observations indicate that food allergy may impact the behavioral symptoms observed in some ASD children (Jyonouchi, 2010). The American Academy of Pediatrics recent review of the literature reported available research data do not support the use of a casein-free diet, a gluten-free diet, or combined gluten-free, casein-free (GFCF) diet as a primary treatment for individuals with ASDs (Buie et al., 2010). Probiotics Probiotics are dietary supplements containing potentially beneficial bacteria or yeast. The use of probiotic diets for children with autism has been reported to improve the concentration and behavior of the study subjects so much that medical trials collapsed because parents refused to accept placebos. According to researchers, the effectiveness of the treatment caused some of the parents involved in a blind trial to realize that their children were not taking a placebo. The parents then refused to switch to the placebo as scheduled, resulting in the collapse of the trial. As a result, it was difficult for researchers to draw firm conclusions. Further research is being planned (Johnston, 2006). Omega-3 Fatty Acids Omega-3 fatty acids are polyunsaturated fatty acids that are essential nutrients for health. We need omega-3 fatty acids for numerous normal body functions, such as controlling blood clotting and building cell membranes in the brain. They are critical in neurodevelopment, and in other aspects of the biological basis of behavior (Meiri et al., 2009). Since our bodies cannot make omega-3 fatty acids, we must get them through food. Dietary sources of omega-3 fatty acids include fish oil and certain plant/nut oils. Omega-3 fatty acids are associated with many health benefits, including protection against heart disease and possibly stroke. In addition to these established benefits for cardiovascular disease, new studies are identifying potential benefits for a wide range of conditions including cancer, depression, inflammatory bowel disease, lupus, rheumatoid arthritis, and autism. Meiri et al., (2009) detail an increasing interest in the possibility that abnormalities of fatty acid metabolism might be related to mental disorders. Their brief report on Omega 3 Fatty Acid Treatment in Autism discusses a 2001 report of abnormalities of fatty acids in the blood of autistic children; a 2003 review of an autistic child who showed major improvements in anxiety and agitation after being treated with supplemental omega-3 fatty acids; and a 2006 controlled study with positive results of 13 male autistic children treated with omega-3 fatty acids or placebo. To determine the efficacy and safety of omega-3 fatty acids for children with ASD, Meiri et al., (2009) conducted an open-label pilot study with ten children aged 4-7 years old with ASD according to the DSM-IV. The children were given one gram daily of omega-3 fatty acids for 12 weeks. The main outcome measure used was the Autism Treatment Evaluation Checklist (ATEC). Of the 9 children who completed the study, 8 showed improvement of about 33% according to ATEC (noted improvements occurred in the autistic core symptoms, such as sociability and speech). The ninth child did not respond at all; none worsened. Meiri et al., concluded that these encouraging results warrant further study Professional Development Resources Autism Subtypes Page 36 of 45

37 Enzyme Supplementation Enzymes are natural catalysts that help break down food proteins. They are found in saliva, the stomach, and the intestines. They are also found in fresh fruits and vegetables, which is one reason they are recommended as part of a balanced diet. David Houston, PhD, has been studying the use of enzymes as a treatment for autism for several years and has reported that certain combinations of enzymes when taken with food at meals can help break down food proteins including casein and gluten into smaller parts than usual for absorption. This is significant for children with autism in that the potentially offending peptides are not formed and do not bind to receptors in the brain (Reid, 2004). One side effect of enzyme supplementation anecdotally reported by families is an initially difficult period right after beginning the treatment. Behavior may worsen initially to levels greater than before taking enzymes. The reasons for this are unknown, but researchers suspect that children who go through this phase may be experiencing something similar to withdrawal (Reid, 2004). Originally, the enzyme treatments were not used to replace gluten and casein diet restrictions. But over time, researchers reported the enzymes alleviated the need for wheat and milk restrictions (Reid, 2004). Because the exact relationship between food and symptomology is not yet fully understood, it is difficult to say which children may benefit from enzyme supplements and which will see little change. Due to the low risk of harm and affordability of enzyme supplements, many parents are experimenting with these enzymes on their own (Reid, 2004). Food Additives, Colorings, Sweeteners & Preservatives While many believe that food additives, coloring agents, artificial sweeteners, and preservatives are a problem for autistic patients, there is little scientific evidence to support this idea. However, many families desire to remove these substances from their diet. Two organizations that are critical of food additives and publish information in this area are the Center for Science in the Public Interest and the Feingold Association. Parents can test whether or not removing these substances from the diet will be beneficial by tapering off slowly over three weeks (to avoid withdrawal symptoms), and then reintroducing the removed substance(s) for five days and watching the results. Feingold Program The Feingold Program is a food elimination diet developed by pediatrician Ben F. Feingold, MD, to treat hyperactivity. It eliminates a number of synthetic colors and flavors: aspartame, three petroleum-based preservatives, and (at least initially) certain salicylates. This was based on his observation that eliminating salicylates and synthetic food additives from patients diets eliminated sensitivity type reactions but also produced behavioral changes in some patients. The Feingold Program eliminates three groups of synthetic food additives and one class of synthetic sweeteners: Synthetic colors (FD&C and D&C ) Synthetic flavors (several thousand different chemicals) Synthetic preservatives (BHA, BHT, and TBHQ) Artificial sweeteners (Aspartame, Neotame, and Alitame) The word synthetic is used instead of artificial because not all artificial colorings, such as titanium dioxide, are eliminated by the program. Contrary to popular misconception, soft drinks, chocolate and sugar are not totally eliminated on the Feingold Program, although moderation is encouraged when consuming such items. Families can often continue to eat the types of food to which they are accustomed by cooking from scratch or choosing brands free of the unwanted additives (The Feingold Association, 2007) Professional Development Resources Autism Subtypes Page 37 of 45

38 The Feingold diet has been evaluated in several carefully controlled scientific studies and has not been shown to work on the symptoms seen in children with autism (Volkmar & Wiesner, 2004). Specific Carbohydrate Diet (SCD) The Specific Carbohydrate Diet eliminates sugar (with the exception of those found in ripe fruits and honey), starches, gluten, and lactose. It has been used to treat a variety of disorders including Crohn s Disease, Ulcerative Colitis, Diverticulitis, Celiac Disease, Cystic Fibrosis, and Autism Spectrum Disorders. The diet was developed by Dr. Sydney Hass with the goal of eliminating complex saccharides. The premise of this diet is that undigested saccharides are malabsorbed, which causes bacterial overgrowth and then an increase in mucus by the gut. This proposed increase in mucus causes injury to the small intestine which makes it unable to digest saccharides. The purpose of the diet is to break this proposed cycle and to maintain positive intestinal flora. According to the diet guidelines, even small amounts of the eliminated foods are unacceptable since the gut will begin breaking these down, starting the cycle again (SCD, 2007). There is no scientific evidence to support the premise of the SCD diet or that it is needed, useful or efficacious. The diet is only supported by individual testimonials. Summary Numerous anecdotal reports on the internet and in the print media suggest the efficacy of diet therapy for ASD. Supporters of the diet approach note that about one third of children with autism lose language and social milestones in the second year of life, a period that often coincides with the introduction of cow s milk and solid foods (Hyman & Levy, 2004). These events may be coincidental rather than causal, however. Elimination of milk or wheat may result in a decrease in loose stools. This change might reduce irritability but be unrelated to amelioration of autistic symptoms. Until appropriate studies are performed, observations that dietary limitations improve autism remain speculative (Hyman & levy, 2004). Some families of children with autism report gastrointestinal symptoms that include, in addition to loose stools, food selectivity and behavioral intolerance of a variety of foods. Several investigators have proposed that increased levels of urinary peptides in children with autism are related to opioid-like compounds found in dairy and gluten products. These peptides reportedly diminish with dietary intervention. Other investigators, using a different assay, found no elevation of urinary peptides, however (Hyman & Levy, 2004). Interpretation of the data in studies of this nature depends on the criteria used to select subjects, the methodology and careful control of supplements, diet, and medications study subjects have taken. Double blind studies where neither researchers nor subjects know who is receiving the treatment intervention provide the best evidence of efficacy. Outcome measures for these clinical studies must be carefully selected. Other Theoretical Interventions Impaired Detoxification Capacity Another theory is that autistic children have problems metabolizing and detoxifying certain compounds due to an impaired biochemical process in metabolism called sulfation. The theory is that impaired sulfation could make autistic children more vulnerable to multiple chemical sensitivities which result in exacerbation of behavioral problems after children eat foods containing phenol, tyramine, and phenyl compounds which are normally neutralized through the sulfation process (McFadden, 1996). Elimination of foods containing these compounds if the recommended treatment although there are no data to suggest that this diet improves symptoms of autism Professional Development Resources Autism Subtypes Page 38 of 45

39 Mercury-Autism Hypothesis The mercury-autism hypothesis came about after what seemed to be a dramatic nationwide increase in autism following an abrupt rise in thimerosal exposure. The incidence of autism increased 10-fold from 6 in 10,000 in the 1980 s to about 60 in 10,000 in 2004 (Blaxill, 2004). Thimerosal was a major source of mercury exposure from 1988 through 2002 when the Centers for Disease Control (CDC) added several new vaccinations to the nation s infant immunization program. There is no question that the level of mercury exposure was significantly greater during this period; there is, however, doubt about it causing an increase in the frequency of autism. Over the past twenty years public awareness of autism has increased, diagnostic procedures have improved, and methods of diagnosis have changed to include children across the range of ages and developmental levels (Volkmar & Wiesner, 2004). These factors alone could result in what would seem like a dramatic increase in autism spectrum disorders, when it may, in fact, be due to the diagnosis of cases that were already there, but had been overlooked. In an attempt to answer these questions, the CDC conducted its own epidemiological study, and then convened a panel of the Institute of Medicine (IOM) to review the issue independently. On May 17, 2004, the IOM published its final report on the possible link between thimerosal and autism. The IOM rejected "a causal relationship" between the two, and then recommended the termination of additional research into the subject, stating that, "Further research to find the cause of autism should be directed toward other lines of inquiry" (IOM, 2004). The chair of the IOM committee stated that, "Available funding for autism research should be channeled to the most promising areas, of which the link with vaccines does not appear to be one" (Barclay, 2004). The chief of the national immunization program at CDC went even further, declaring that only "junk scientists and charlatans" support research into the potential link between thimerosal exposure and autism (Levin, 2004). Thimerosal is an organomercury compound (approximately 49% mercury by weight) used as an antiseptic and antifungal agent. It was developed and registered under the trade name Merthiolate in 1929 and has a long record of safe and effective use preventing bacterial and fungal contamination of vaccines, with no ill effects established other than minor local reactions at the site of injection. While the use of mercury-containing preservatives has declined in recent years with the development of new products formulated with alternative or no preservatives, thimerosal has been used in some immune globulin preparations, anti-venoms, skin test antigens, and ophthalmic and nasal products, in addition to certain vaccines (FDA, 2007). The compound has been phased out from most childhood vaccinations as a precautionary measure by the Public Health Service (including the Food and Drug Administration (FDA), National Institutes of Health (NIH), Center for Disease Control and Prevention (CDC), Health Resources and Services Administration (HRSA), and the American Academy of Pediatrics. The IOM stated in its final report: the committee cannot rule out, based on the epidemiological evidence, the possibility that vaccines contribute to autism in some small subset or very unusual circumstances (IOM, 2004). The CHARGE (Childhood Autism Risks from Genetics and the Environment) Study is a large, comprehensive, epidemiologic investigation designed to identify factors associated with autism that may provide clues about etiology, comorbidity, or mechanisms of susceptibility. The Study is an ongoing population-based case control investigation of three groups of children: with autism, with developmental delay (DD) but not autism, and from the general population. Autism and DD cases are recruited from the State of California Department of Developmental Services. Population-based controls are randomly selected from state birth files with frequency matching on age, sex, and broad geographic distribution of the autism cases. Eligibility criteria are age months, living with at least one biological parent, born in California, and having a parent who speaks English or Spanish. All children are examined clinically, and diagnoses are confirmed following algorithms based on administration of the Autism Diagnostic Observation Schedule (ADOS), Autism Diagnostic Inventory-Revised (ADI-R), Mullen Scales of Early Learning (MSEL), and Vineland Adaptive Behavior Scales (VABS). Alter clinical evaluation, blood specimens are collected Professional Development Resources Autism Subtypes Page 39 of 45

40 The CHARGE Study enrolled over 500 children 2-5 years of age to test the theory that children with autism have higher blood mercury levels, relative to unaffected controls. The Study measured and compared post-diagnosis blood mercury (Hg) concentrations in preschool-age children with and without autism, adjusting for recent exposures through diet, personal care products, vaccines, and dental amalgams. After accounting for dietary and other differences in Hg exposures, total Hg in blood was neither elevated nor reduced in CHARGE Study preschoolers with AU/ASD compared with unaffected controls, and resembled those of nationally representative samples (Hertz-Picciotto et al., 2010). Chelation Therapy Based on the speculation that heavy metal poisoning may trigger the symptoms of autism, particularly in small subsets of individuals who cannot excrete toxins effectively, some parents have turned to alternative medicine practitioners who provide detoxification treatments via chelation therapy. Chelation therapy is a process involving the use of chelating agents to remove heavy metals from the body. However, chelation may also remove essential minerals and must be administered with great care. The death of a five year old boy in August 2005 has been linked to the use of chelation therapy and was attributed to accidental administration of an incorrect chelation agent (Kane, 2006). Secretin Secretin is a biological compound that serves as a hormone in the digestive tract and is used to help diagnose certain diseases of the digestive system. There has been some discussion in the last few years about the use of secretin, a pancreatic hormone that mediates digestion, as a treatment for autism. Secretin was approved by the Food and Drug Administration (FDA) for a single dose normally given to aid in diagnosis of gastrointestinal problems. Anecdotal reports have shown improvement in autistic symptoms, including sleep patterns, eye contact, language skills, and alertness. Several clinical trials conducted in the last few years have found no significant improvements in symptoms of patients who received secretin and those who received placebo (Strock, 2004). Summary Biomedical theoretical interventions for ASD are developed in response to a lack of clear evidence as to the cause of these disorders. In order to be accepted as a proven intervention, the treatment must demonstrate in randomized, double-blind clinical trials that it is better than placebo for improving the symptoms of ASD which allows an objective comparison between the proposed treatment and no treatment. Until such trials are completed with sufficient sample sizes to be statistically meaningful, these theories remain in the realm of unproven speculation Professional Development Resources Autism Subtypes Page 40 of 45