VII. Diagnosis and Treatment of Psychiatric Disorders in Childhood and Adolescence

55. AUTISM SPECTRUM DISORDERS Loisa Bemetto, Ph.D., aMd Sally J . Rogers, Ph.D

1. What is autism? Autism is a developmental disability marked by significant impairments in social relatedness,

communication, and the quality, variety, and frequency of various activities and behaviors. The onset of autism is generally before age 3, and impairments persist throughout the lifespan. Autism may occur across a range of functioning, and often is associated with mental retardation.

2. What are the main symptoms of autism in childhood and adulthood? Autism involves a constellation of primary symptoms that are present in all individuals, plus a

variety of other symptoms that often are associated with the disorder. The presentation of symptoms varies greatly among individuals and across age and developmental levels, and no single symptom is pathognomonic.

Symptoms of Autism PRIMARY SYMPTOMS (present in all individuals)

ADDITIONAL SYMPTOMS (may not be present in some individuals)

Abnormal social relatedness Abnormal communicative development Cognitive impairment Abnormal capacity for symbolic play Restricted and odd behavioral repertoire Onset before age 3

Abnormal movement patterns

Abnormal sensory responses Stereotypic behaviors Neurological abnormalities Extreme behavioral problems

3. How is social relatedness affected? Social relatedness is always impaired in autism. The degree of impairment, however, may range

from an oddness in social interaction, as in Asperger’s syndrome, to an almost complete detachment and lack of responsiveness to others’ social initiations. Social deficits are most obvious with strangers and with peers; many children with autism show differential preferences for familiar people and demonstrate attachment to their primary caregiver. Social abnormalities may include poor use of eye contact, lack of social initiation (as opposed to response), and little apparent interest in sharing exciting or pleasurable experiences with others.

Individuals with autism often have difficulty in both reading others’ and signaling their own emotional states through body movements and facial expressions. They also have difficulty under- standing others’ mental states and perspectives. Finally, children with autism demonstrate a marked deficit in imitating others’ actions, which may impede the development of interpersonal synchrony, communication, symbolic play, and the learning of new behaviors.

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4. In what way is communicative development abnormal? Much of the literature on autism has focused on deviance in the development of spoken lan-

guage. However, the communication deficit is much more profound than deviant speech patterns. Some children with autism seem to lack the understanding that behavior can be communicative. For example, the most severely affected children do not seem to comprehend the meaning of a parent’s smile, frown, or gesture. Furthermore, they rarely use behavior communicatively (e.g., no pointing, showing, seeking to hold the parent’s attention with eye contact). At the milder end of the spectrum are people who are highly verbal, but impaired in pragmatic aspects of language. They may be quite “chatty” and very socially motivated; yet they rarely engage in the typical back-and-forth pattern of normal conversation and lack a grasp of humor and irony.

5. How is the symbolic play of childhood affected? Children with autism rarely engage in the pretend play typical of preschool-aged children, in-

cluding doll play, role play, and dramatic play. Those who have some ability to carry out this kind of play do so in a repetitive and simplistic manner, and they rarely seek out play partners or engage in interactive symbolic play.

6. What kinds of odd behaviors are characteristic of the autistic individual? Typical toy play, marked by curiosity, creativity, and interest in novelty, usually is lacking in

children with autism. Much time is spent in a very limited range of activities, which may consist of a few highly ritualized or repetitive ways of handling a few objects (e.g., sucking, shaking, arranging, carrying around). When age-appropriate play skills are present, they often are inappropriately repet- itive. Water play, watching things move or spin, and repeatedly watching television commercials or videos are typical interests of young children with autism.

For those with well-developed language skills, preferred topics of conversation may be highly ritualized and repetitive, focusing on very specific themes. The interests, activities and conversa- tional topics of adolescents and adults may seem quite restricted and idiosyncratic either in content or in intensity of involvement. Finally, changes in familiar routines or aspects of the environment may he very upsetting.

7. Describe the typical age and symptoms of onset. Children with autism usually have symptom onset within the first 3 years of life. In the first year

of life, commonly reported symptoms include either passivity or unusually difficult behavior (e.g., irritability, poor feeding and sleeping patterns) and a lack of interest in imitative mother-baby games. However, a number of children do not show specific symptoms in the first year of life. For those with apparent onset after 12 months, deviance in language development often is the first symptom reported. These children may not develop any speech, or they may display a pattern of normal first words at 12-14 months, but do not develop further language and may lose already acquired words. This usually is accompanied by decreased social interest and engagement. Additional symptoms, often including repetitive behavior, rituals, and intense emotional reactions, may develop in the third and fourth years.

8. What is the evidence for cognitive impairment? Mental retardation, ranging from mild to severe, is present as an additional primary handicap

in approximately 75% of children with autism. Overall cognitive ability, or IQ, tends to be stable across the lifespan and is predictive of long-term outcome. However, individuals with autism often show a distinct and uneven pattern in the development of specific cognitive abilities. Language and social development are the slowest areas to develop and demonstrate the most deviance. Other facets of development, such as visuospatial skills and memory for facts, tend to be the least de- layed. Research on the neuropsychology of autism points to additional impairments in organiza- tional skills, in shifting from one idea or behavior to another, and in the planning and execution of complex motor movements.

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9. Elaborate on additional symptoms that may be present. Abnormal sensory responses: Persons with autism often display either hyper- or hyporeactiv-

ity to sensory stimulation of all types (e.g., visual, auditory, tactile, pain). Stereotypic behaviors: Persons with autism often display repetitive actions that appear to pro-

vide sensory stimulation (e.g., finger and hand movements, teeth grinding, jumping and flapping, rocking, and peculiar movement patterns when excited or anxious).

Neurological abnormalities: Abnormal muscle tone and movement patterns are common in children with autism. In addition, 20-35% of persons with autism develop seizures during adoles- cence or early adulthood, which are associated with greater impairments in intellectual functioning.

Extreme behavioral problems: A minority of persons with autism exhibit extreme behavioral difficulties such as self-abuse, and high levels of aggression and destruction.

10. What is the range of severity in autism? Each of the primary and related symptoms of autism varies in severity, making this disorder

quite different from one individual to the next. Similarly, the level of intellectual impairment may vary from severe mental retardation to normal or even superior intelligence. Individuals at both ends of the spectrum often are the most difficult to diagnose accurately. Those with severe autistic symp- toms and severe mental retardation may be hard to differentiate from individuals with severe to pro- found mental retardation alone. Similarly, those with the mildest symptoms may appear similar to individuals with social problems due to personality disorders, nonverbal learning disabilities, prag- matic language disorders, and social anxiety.

11. What is pervasive developmental disorder, not otherwise specified (PDD-NOS)? How is it related to autism?

PDD-NOS is a term that engenders some confusion among parents and others trying to under- stand diagnoses. It sometimes is used interchangeably with autism, particularly with higher func- tioning or milder cases. It also is sometimes incorrectly interpreted as a qualitatively different diagnosis than autism. PDD-NOS is used if a child’s behavior does not meet the full range of diag- nostic criteria for autistic disorder. While these children may be functioning at a higher level than most children with autism, the nature of their symptoms still constitutes a significant impairment and often necessitates intervention.

PDD refers to a broad category of disorders that begin in infancy or early childhood and are characterized by qualitative impairment in social interaction, impairment in communication skills, and the presence of stereotyped behavior, activities, or interests. Autism is the most familiar of the PDDs. The other disorders in this category all have different features and courses, and include Asperger’s syndrome, Rett’s syndrome, and childhood disintegrative disorder. The term autism spectrum disorder is also used to connote autism and its milder variants, including PDD-NOS and Asperger’s syndrome.

12. Describe Asperger’s syndrome. The diagnostic criteria generally are similar to those for autism. Individuals with Asperger’s

syndrome have severe and sustained impairments in social interaction, which are particularly marked in interactions with peers, and a restricted and repetitive range of activities, behaviors, and interests. In contrast to autism, there are no clinically significant delays in language or adaptive behavior early in development, and IQs are in the normal or borderline range. However, individuals with Asperger’s syndrome do tend to show pragmatic abnormalities in language (e.g., poor con- versational skills) and impairments in nonverbal expressiveness (e.g., gestures, facial expression). The symptoms of Asperger’s syndrome often lead to significant difticulties in personal and occupa- tional functioning.

Prevalence estimates indicate that Asperger’s syndrome occurs in as many as 3-4 per 1000 school-aged children, with a higher rate in boys than girls. Young children may be identified for sig- nificant motor delays or motor clumsiness, but their perseverative tendencies and odd way of relat- ing to others may be less noticeable. By school age, however, impaired social interaction skills

298 Autism Spectrum Disorders

become more obvious, and children often have few or no peer friendships. These children typically develop idiosyncratic or circumscribed interests, which are pursued quite perseveratively through reading, collecting, or memorizing facts.

Many researchers and practitioners consider Asperger’s syndrome to be a milder form of autism. In fact, the differential diagnosis may be difficult to make for very young children. By later child- hood and adolescence, however, these children may be distinguished from those with autism by their history of relatively intact language skills, their cognitive profiles, and the presence of well-devel- oped perseverative interests.

13. Describe Rett’s syndrome. Rett’s syndrome is a progressive neurological disorder that occurs only in females. It is quite

rare, occurring i n 1 per 12,000-15,000 live female births. Early in development, these girls may show many autistic characteristics, including withdrawal, social isolation, and cognitive delays, which often lead to an early diagnosis of autism. However, Rett’s syndrome can be distinguished from autism by its degenerative course and certain striking characteristics.

Girls with Rett’s syndrome show normal development until between 6 and 18 months, at which point their development appears to stop or regress. Most notably, they show a loss of purposeful hand movement, severely impaired expressive and receptive communication skills, deceler- ated head growth, and severe cognitive deficits. Loss of hand use is replaced by characteristic stereotyped midline movements, including hand wringing, hand washing, and hand biting. As girls with Rett’s syndrome grow older, their overall motor skills deteriorate, with about half losing inde- pendent walking abilities altogether. In contrast, the autistic features of social isolation and with- drawal often improve with age. Other symptoms associated with Rett’s syndrome include seizures in early childhood, feeding difficulties, and abnormal breathing patterns including hyperventilation, breath holding, and air swallowing.

14. Describe childhood disintegrative disorder. Childhood disintegrative disorder is characterized by a significant regression in two or more

areas of functioning, after a period of at least 2 years of normal development. The regressions can be gradual or abrupt, and may affect social skills, expressive or receptive language, motor skills, play, toileting, or other adaptive behaviors. Like children with autism, those with childhood disinte- grative disorder exhibit qualitative impairments in social interaction and communication, have a re- stricted range of behaviors, and tend to exhibit motor stereotypes. This disorder can be differentiated from autism by its course; the delays in autism are usually evident within the first year or two of life. However, after symptoms have developed, these children have the same symptom pattern as those with severe autism and significant mental retardation.

15. Are there tests to assist in the diagnosis of autism? There is no specific medical test for autism. Diagnosis is based on parental report of developmen-

tal history and current functioning and observations of the child’s behavior. However, the reliability and validity of diagnosis have improved greatly with the recent development of standardized methods of assessment. One of the most widely used diagnostic tools is the Childhood Autism Rating Scale (CARS).I3 The CARS is based on clinician’s observations of a child’s behavior. It requires only mini- mal training, and is particularly appropriate for an initial screening of autistic symptoms.

A formal diagnostic evaluation should include a more comprehensive evaluation of symptoms from multiple sources. One of the best-validated methods, the Autism Diagnostic Interview- Revised (ADI-R),” is a semi-structured interview with the child’s primary caretaker that provides a lifetime assessment of the behaviors central to autism. The ADI-R is excellent in identifying autism in individuals from mental ages of 18 months through adulthood, and yields a diagnosis based on DSM-IV and ICD-10 criteria.

The Autism Diagnostic Observation Schedule-Generic fADOS-G)I* was developed to comple- ment the ADI-R by providing a semi-structured and standardized interview with the patient in which to observe social, communicative, and play behaviors. The ADOS-G comprises several different modules

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designed for nonverbal, preschool children through high-functioning adults. Like the ADI-R, obser- vations are scored in the context of DSM-IV and ICD- 10 criteria. Both the ADI-R and ADOS-G pro- vide rich information for diagnosis and treatment planning, but require a substantial amount of experience and training.

16. What factors should be considered in formulating a differential diagnosis? For children who may have autism, the differential diagnosis must rule out the presence of

severe language disorder, nonverbal learning disability, mental retardation (without autism), deaf- ness, and reactive attachment disorder as alternative explanations for the difficulties with social, communicative, and play behavior. For adults, the differential diagnosis must rule out schizoid or schizotypal personality disorder, mental retardation (without autism), nonverbal learning disabilities, and neurological disorder.

17. Elaborate on the assessment process. Whereas the purpose of diagnosis is to determine the existence of autism, assessment is the

process of identifying the individual’s strengths, weaknesses, and needs. A full interdisciplinary as- sessment is helpful in making the initial diagnosis and in therapeutic and educational planning. The assessment team ideally involves psychology, pediatrics, psychiatry, occupational therapy, social work, and speech and language pathology (neurology and physical therapy also are often included, depending on the presenting medical symptoms). A full assessment during the elementary school years is recommended to aid in optimal educational planning and curriculum development. Adolescents with autism may benefit from a comprehensive assessment as issues of vocational train- ing, further education, and planning for independence from the parental home arise. A tertiary facility such as a university hospital or children’s hospital, or a university-affiliated program for developmen- tal disabilities, can provide comprehensive interdisciplinary assessments and recommendations.

18. How common is autism? The prevalence of autism in the general population is approximately 10-12 per 10,000 live

births. If one considers the broader PDD spectrum (including milder variants such as Asperger’s syndrome and PDD-NOS), the prevalence estimate rises to over 20 per 10,000. Autism occurs more often in boys than girls, with a gender ratio of approximately 4: 1 males to females.

19. What causes autism? The precise pathogenesis of autism is unknown. We do know, however, that autism has a biolog-

ical basis, related to neurological or neurophysiological factors. Historical theories about psychoso- cia1 etiologies (such as inadequate or poor parenting) have been rejected empirically.

Research clearly indicates that in many cases, autism has a genetic basis. The symptoms of autism appear to be associated with several genetic conditions, including fragile X syndrome, tuberous sclerosis, and Moebius syndrome. Family studies have demonstrated that autism is both familial and heritable. Subsequent siblings born to a family with an autistic child have a recurrence risk of 3-7%, compared to the population risk of 0.1%. The concordance rate is 9% for dizygotic twins, and roughly 60% for monozygotic twins. Recent research also suggests that the features of autism may be present in a milder form in nonaffected relatives of individuals with autism. This “broader autism phenotype” may include social reticence or shyness, pragmatic language diffcul- ties, mood disturbances, and subtle neuropsychological deficits.

The pattern of transmission and specific genes responsible for autism are still unknown. Statistical models suggest that at least two to five genes are acting together to produce the autism phenotype. Based on the heterogeneity of symptoms and unpredictable inheritance patterns, it also is likely that these genetic factors are not inherited in a simple fashion and may be influenced by ge- netic or environmental modification.

Neuroanatomical and neuropathological studies of autism have identified several abnormali- ties, but findings in this area are still inconclusive. The most commonly reported findings include hypoplasia of specific brainstem nuclei, reduction in Purkinje cells, hypoplasia of the cerebellar

300 Autism Spectrum Disorders

vermis, neuronal immaturity, and increased cell packing density in the amygdala and hippocampus. Taken together, these findings suggest that autism may involve developmental abnormalities very early in the gestational period. Functional imaging studies using PET and SPECT have been incon- sistent, but point to some reduction in metabolic rates in frontal and temporal regions. Finally, sev- eral neurochemical studies have reported possible abnormalities in dopamine and serotonin metabolism. Immunological abnormalities also have been documented.

20. Is there treatment for autism? Autism generally is considered a lifelong, chronic disability. Nevertheless, appropriate, inten-

sive, and early intervention is critical for stimulating development in all areas and improving func- tioning across settings.

For children with autism, intervention should begin as early as the diagnosis is made, in the tod- dler and preschool period. Specific interventions should focus on developing language, cognitive and imitation skills, social responsiveness, and appropriate behavior. A recent review of early inter- vention in autism describes several common elements of effective programs, which include many hours per week of intervention, appropriate curriculum content, highly structured and pre- dictable teaching environments, strategies to help generalize skills across environments and people, and a functional, positive approach to behavioral problems.*

The school-aged child with autism needs a curriculum that is tailored to individual strengths and needs. With appropriate educational approaches, virtually all children with autism can be expected to make clear, measurable progress in learning. The educational programs that are helpful vary from individualized instruction in regular school classrooms to specialized programs for students with autism. There is an array of educational choices for families, but all effective education programs are highly individualized, using well-structured, systematic teaching routines, consistency and repeti- tion, and concrete, functional learning objectives.

Adolescents and adults with autism frequently need specific help in negotiating the complexi- ties of life demands. Social skills groups, recreational activities, individual psychotherapy, and vo- cational coaching and assistance can help them acquire skills necessary for a satisfying adult life. Participating in recreational activities with typical peers is an important part of community life for adults with autism. People with autism often have areas of strength that should be supported through further teaching and extracurricular activities, since they may represent abilities that will be respected and valued by peers or be important in establishing vocations or avocations in adult life.

21. Specifically which techniques are beneficial in the treatment of autism? Intervention techniques that are effective in treating core symptoms of autism include cogni-

tive/behavioral approaches, systematic instruction, and concrete, pragmatic approaches to life’s challenges. Educational professionals and psychologists often play key roles in developing compre- hensive intervention plans for individuals with autism. Speech and language therapy also is impor- tant in helping individuals with autism develop their communicative capacities to their fullest. Occupational therapy and physical therapy are important in treating motor abnormalities involving both motor development and sensory processing dysfunction. Attention to the mental health of the entire family is an important aspect of intervention programs as well, often involving social workers or psychologists on a treatment team.

A variety of alternative and sometimes controversial treatment approaches frequently are pro- moted in the popular press. The symptoms of autism are very complex, and it can be difficult for par- ents (and professionals) to judge the relative importance of enthusiastic endorsements versus empirical validation. It is therefore critical to evaluate the scientifically reported effectiveness and safety of new treatments before recommending them to families.

22. What medications are helpful in autism?

medications have been used to treat specific associated behavioral problems. At present, there is no pharmacological treatment to “cure” autism. However, several classes of

Autism Spectrum Disorders 30 1

Antidepressants, particularly the selective serotonin reuptake inhibitors, have been used with some success in treating preoccupations and ritualized behaviors, as well as the mood disorders and anxiety that are sometimes evident in autism. Although they do not directly address social and com- municative deficits, these symptoms may improve as rituals and anxiety decrease.

Stimulant medications have been used to decrease the activity levels and improve the attention span of some children, which may then lead to a better response to behavioral and educational treat- ments. While anecdotal reports have suggested some effectiveness in certain children with autism, a review of the research on stimulant medications suggests little or no clinical improvement.

Antipsychotic medications also have been considered in treating some symptoms of autism. The preponderance of the research has been done with haloperidol, which has been reported to im- prove hyperactivity, aggression, agitation, stereotypic behaviors, and mood lability in some studies. Newer atypical antipsychotic medications may be useful in treating aggressive and hyperactive be- havior with fewer side effects.

Finally, anticonvulsant medications are used to treat individuals with autism who suffer from seizures. These medications also may be effective in decreasing aggressive behavior and episodic behavioral outbursts, particularly in children with seizure disorder.

23. What is the prognosis for children with autism? With appropriate and intensive educational and treatment services, children with autism show

improvements. The preschool years are typically the most difficult, because children with autism tend to be the least social, least communicative, and have the most behavioral difficulties. The sever- ity of the social and communicative deficits tends to diminish as children grow older. Leaming con- tinues throughout childhood and adolescence, as long as children are receiving appropriate services and environmental supports. Adolescence can be a difficult time for some individuals with autism, because of increased social and organizational demands. In addition, some high-functioning adoles- cents and adults with autism may experience depressed mood.

A number of followup studies have been conducted with autistic individuals. These studies typ- ically are based on samples of individuals who did not receive the intensive treatment services that are available today, and may therefore underestimate positive outcomes. These studies suggest that 5 1 7 % of individuals with autism can work and live independently as adults. The most important positive prognostic indicators are functional (i.e., useful) language before age 5 and cognitive abili- ties above the mentally retarded range (i.e., IQ > 70). In addition, individuals with autism appear to do best in environments that are well suited to their specific needs.

The good news is that in today’s culture of early intensive interventions, it appears that a number of children with autism grow up to have unexpectedly positive outcomes.

24. How is autism related to other mental disorders? Individuals with autism may demonstrate symptoms of other psychiatric disorders. Treatment of

comorbid conditions is likely to improve the response to interventions aimed at symptoms of autism. Some of the more common comorbid conditions include:

Affective disorders: Mood and anxiety disorders occur in autism with some frequency. There appears to be a higher rate of depression in individuals with autism, as well as their first-degree rela- tives. Higher levels of anxiety also have been observed in autism, and may be responsible for some of the behavioral outbursts, resistance to change, and need for repetitive routines. Because many in- dividuals with autism do not have the verbal skills to describe their symptoms, clinicians must be sensitive to vegetative signs and other nonverbal markers of these conditions.

Attention-deficithyperactivity disorder (ADHD): ADHD is present in some, but certainly not all, children with autism. Many children with autism display some of the characteristic symp- toms of ADHD, such as hyperactivity and distractibility.

Mental retardation: Mental retardation frequently co-occurs with autism. However, children with autism often demonstrate intact skills in certain areas, so it is quite important that psychologi- cal testing he conducted by clinicians who are familiar with the diagnosis, and that the intelligence tests used are appropriate to the individual’a abilities and understanding. For example, nonverbal

302 Attention Deficit-Hyperactivity Disorder

intelligence tests or nonverbal adaptations of tests are appropriate for younger children with autism and those who have limited verbal skills. For individuals with autism who do not have mental retar- dation, there is a common pattern of cognitive strengths and weaknesses, in which visual perceptual skills often are significantly better than verbal abilities, and concrete problem solving is better than abstract knowledge. Thus, in high-functioning individuals with autism, there often is a learning dis- ability profile, which necessitates individual approaches to education.

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56. ATTENTION DEFICIT-HYPERACTIVITY DISORDER

William W. D o d s o ~ , M.D

1. What is attention deficit-hyperactivity disorder (ADHD)? The first descriptions of ADHD appeared at the turn of the century, and the current medication

treatment was first described in 1937. Our understanding of the disorder has developed over time, and the name and diagnostic criteria for ADHD have changed with that understanding. The current diagnosis as it is described in the DSM-IV is: ( I ) a persistent pattern of inattentiodeasy distractibil- ity, (2) behavioral and emotional impulsivity, and sometimes (3) hyperactivity or severe restlessness. These symptoms are significantly more severe than is typical in persons of a similar developmental level. Inattention, impulsivity, and restlessness must cause significant impairment in at least two areas of function (school, peer relationships, family relationships, and work, mood regulation, and self-esteem) and must have been continuously present for at least 6 months. For example, a child who misbehaves in the classroom and is disruptive, but does not exhibit similar problems on the playground or at home, does not meet diagnostic criteria.