10 Autism and Childhood-Onset Schizophrenia Chapter Outline: I. II. III. General Description and Historical Background of Autism A. Autistic disorder or autism is a severe developmental disorder characterized by abnormalities in social functioning, language, and communication, and unusual interests and behaviors B. Autism is the most common and most studied pervasive developmental disorder (PDD); characterized by significant impairments in social and communication skills, and stereotyped patterns of interests and behaviors C. Autism and childhood-onset schizophrenia were previously lumped together as a single condition, but are now seen clearly as distinctly different disorders D. In 1943, psychiatrist Leo Kranner described children who withdrew into a shell, disregarded people, avoided eye contact, lacked social awareness, had limited language, displayed stereotyped motor movements and showed preservation of sameness as having a disorder called early infantile autism; he believed autism resulted from an inborn inability to form loving relationships with other people and described parents of these children as being cold and detached E. Autism is now recognized as a biologically-based lifelong developmental disability that is present in the first few years of life DSM-IV-TR : Defining Features A. Main features of DSM-IV-TR diagnostic criteria: 1. Impairments in social interaction 2. Impairments in communication 3. Restricted repetitive and stereotyped patterns of behavior, interests, and activities B. Delays or abnormal functioning in social interaction, social communication, or symbolic or imaginative play prior to age 3 C. Autism is a spectrum disorder, which means that its symptom patterns, range of abilities, and characteristics are expressed in many different combinations and in any degree of severity D. Three critical factors contribute to the spectrum nature of autism: 1. Children with autism may possess any level of intellectual ability 2. Children with autism vary in the severity of their language problems 3. The behavior of children with autism changes with age Core Deficits of Autism A. Social impairments 1. From a young age children with autism show deficits in imitating others, orienting to social stimuli, sharing a focus of attention with others, understanding other people’s emotions, and engaging in make believe play 2. Social expressiveness and sensitivity to others’ social cues are limited, rarely share experiences or emotions with other people 3. Impairments in joint social attention- the ability to coordinate one’s focus of attention on another person and an object of mutual interest; show little desire to share interest and attention with another person IV. 4. Process social information in unusual ways- may have difficulty imitating others or orienting to social versus nonsocial stimuli, may overemphasize parts of the face, don’t prefer speech over nonspeech sounds (as typically developing children do) 5. Show slightly lower but comparable rates of secure attachment to their mothers as normal controls 6. Deficit in ability to form attachments is not global, but is in their ability to understand and respond to social information 7. Problems in processing and expressing emotional information contained in body language, gestures, facial expressions, or voice B. Communication impairments 1. Use protoimperative gestures to express needs, but not protodeclarative gestures to direct visual attention of others to objects of shared interest 2. May use instrumental gestures but not expressive gestures 3. About 50% of children with autism do not develop any useful language 4. Use qualitatively deviant forms of communication- rhythm and intonation of speech often unusual, and may use incoherent and irrelevant speech, pronoun reversals, echolalia 5. Profound impairments in pragmatics-appropriate use of language in social and communicative contexts C. Repetitive behaviors and interests 1. Show narrow patterns of interests such as a fascination with arithmetic, repetitive behaviors such as lining up objects, or stereotyped movements such as rocking- seem driven to perform and maintain these behaviors 2. Common and persistent self-stimulatory behaviors- repetitive body movements or movements of objects Associated Characteristics of Autism A. Intellectual Deficits and Strengths 1. About 70% of children with autism have mental retardation, with particular weaknesses in verbal IQ 2. About 25% display splinter skills and 5% have savant abilities B. Sensory and Perceptual Impairments 1. Include oversensitivities or undersensitivities to certain stimuli, overselective and impaired shifting of attention to sensory input, and impairments in mixing across sensory modalities 2. Sensory dominance-tendency to focus on certain types of sensory input over others 3. Stimulus overselectivity- selective focus on one feature while ignoring other equally important features C. Cognitive Deficits 1. Deficits in processing social-emotional information a. Difficulty understanding social situations b. Impairments in the ability to understand others’ and their own mental states (theory of mind) 2. General deficits a. Deficits in executive functions b. V. VI. Lack of drive for central coherence (i.e., they tend to process information in bits and pieces rather than looking at the big picture) D. Physical Characteristics 1. Less than 10% of children with autism have a co-occurring medical condition that may play a causal role in their autism 2. Development of epilepsy in 25% of individuals with autism, with onset usually in late adolescence or early adulthood 3. Abnormally large head circumference in about 20% of individuals E. Family Stress- In addition to experiencing the inherent stress and demands involved in caring for a child with autism, parents of children with autism may experience frustration and delays before receiving help; also may experience social ostracism from friends or strangers F. Accompanying Disorders and Symptoms 1. Most often associated with mental retardation and epilepsy 2. Additional behavioral and psychiatric symptoms may include hyperactivity, learning disabilities, anxieties and fears, mood problems, and self-injurious behavior G. Differential Diagnosis 1. Children with mental retardation but not autism do not display deficits in joint social attention or theory of mind, and are often able to display social behaviors appropriate for their mental age 2. Compared to children with developmental language delays, children with autism use more atypical forms of language, display less spontaneous social conversation, and show greater impairment in nonverbal communication Prevalence and Course of Autism A. Occurs in about 16 children per 10,000 B. Occurs in all social classes and in all cultures C. Approximately 3 to 4 times more common in boys than in girls, although no gender differences among those with autism and profound mental retardation D. Extreme male brain (EMB) theory of autism focuses on the idea that those with autism are more “systemizing” than “empathizing” and that males are presumed to show more systemizing abilities and females more empathizing abilities E. Deficits become more noticeable around age 2, although elements are usually present at a much earlier age F. Most children show gradual improvement with age, although they are likely to continue to experience many problems G. Only a few adults with autism achieve a high level of independence; most remain dependent on family and support services H. Usually a chronic and lifelong condition, especially for those with severe or profound mental retardation Causes of Autism A. Problems in Early Development- premature birth, bleeding in pregnancy, toxemia, viral infection or exposure, and a lack of vigor after birth have been identified in a minority of children with autism B. VII. Genetic Influences 1. Individuals with autism have an elevated risk of about 5% for gene anomalies; 25% of children with tuberous sclerosis have autism 2. Family and twin studies suggest that the heritability of an underlying liability to autism is above 90%; non-autistic relatives of individuals with autism display higher-than-normal rates of social, language, and cognitive deficits that are similar in quality to those found in autism, but are less severe 3. Possible locations on different chromosomes for susceptibility genes for autism have been suggested, but actual susceptibility genes have not yet been identified C. Brain Abnormalities 1. Higher rates of epilepsy and EEG abnormalities in about 50% of individuals with autism provide general evidence of abnormal brain functioning 2. Observed deficits suggest the involvement of multiple regions of the brain at both cortical and subcortical levels 3. Brain imaging studies suggest abnormalities in the frontal lobe cortex, cerebellum, and the medial temporal lobe and related limbic system structures 4. Neuroimaging studies of brain metabolism suggest decreased blood flow in the frontal and temporal lobes 5. About 1/3 of individuals show elevated levels of whole blood serotonin D. Autism as a Disorder of Brain Development- support for presence of a pervasive abnormality in brain development in autism that produces generalized impairments in complex information-processing abilities; may involve dysfunction of a brain system specialized for social cognition Treatment of Autism A. Most treatments are directed at maximizing the child’s potential and helping the child and family cope more effectively with the disorder B. Treatments for low-functioning children emphasize elimination of harmful behaviors and efforts to teach the child self-help skills, compliance with simple requests and rules, basic social and emotional behaviors, communication of needs, and appropriate play; as they grow older the focus is on teaching domestic and work-related skills C. Goals for high-functioning children include the same as those for low-functioning children, as well teaching language fluency, age-appropriate social interactions with normal peers, and the behaviors and skills expected in typical classrooms D. Most effective treatments are highly structured and skills-oriented, tailored to the individual child, involve and support the family, and involve early intervention E. Initial stages of treatment focus on building rapport and teaching learning readiness skills through discrete trial training and incidental training F. Disruptive and interfering behaviors must be eliminated before the child is able to learn more adaptive forms of social interaction and communication G. Teaching appropriate social behavior includes teaching expression of affection, imitation, sharing, and turn taking, and may be done through interactions with normal or mildly handicapped peers and/or reward systems for social initiations H. Teaching appropriate communication may make use of operant speech training or sign language training I. Early intervention efforts are often carried out at home and in the preschool, provide direct one-to-one work with the child for 15 to 40 hours per week, actively involve the family, and involve efforts to include the child in interactions with normal peers; most children benefit from early intervention VIII. Other Pervasive Developmental Disorders (PDD) A. Asperger’s Disorder (AD) 1. Characterized by major difficulties in social interaction and by unusual patterns of interest and behavior in children with relatively intact cognitive and communication skills 2. The main differences between AD and autism appear to be higher verbal mental age, less language delay, and greater interest in social contact in children with AD 3. Estimated prevalence is about 2.5 per 10,000, but likely to be higher; boys are more likely to be affected 4. The higher intellectual functioning in children with AD suggests better long-term outcome than for autism 5. Brain abnormalities in the cerebellum and limbic system are similar to those for autism, but less severe 6. On-going debate about whether or not AD simply describes higherfunctioning individuals with autism, as well as whether AD should be viewed as a disorder or as an extreme on a continuum of social behavior B. Rett’s Disorder 1. A severe neurological developmental disorder characterized by deceleration of head growth, loss of previously acquired purposeful hand skills with the subsequent development of stereotyped hand movements (hand-wringing or hand-washing), loss of social engagement, appearance of poorly coordinated gait or trunk movements, severely impaired language development, and severe psychomotor retardation 2. Occurs in about 1-4 per 10,000 females; mostly female cases reported to date; severe neurological disorder caused by specific X-linked gene mutations found in more than 80% of those affected 3. Most experience severe or profound mental retardation, epileptic seizures, motor handicaps, and difficulties with communication; girls with Rett’s commonly have apraxia, and their brains are 12-34% smaller than other children’s brains 4. Long-term prognosis is poorer than for that of autism C. Childhood Disintegrative Disorder 1. Characterized by a significant loss of previously acquired language, social skills, and adaptive behavior prior to age 10; regression follows a period of apparently normal development 2. IX. Abnormalities include impairment in social interaction and/or communication, and restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, including motor stereotypes and mannerisms 3. Only occurs in about .2 per 10,000 children 4. The symptoms, degree of impairment, and outcomes for children with this disorder are similar to those for children with autism, with the exception of age of onset and a period of normal development, typically for the first 2 to 4 years of life; however, inclusion of CDD and Rett’s disorder with other PDDs has been questioned D. Children with Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) display the social, communication, and behavioral impairments associated with PDD, but do not meet the criteria for other PDDs, schizophrenia, or other disorders Childhood-Onset Schizophrenia (COS) A. Historically, the term “childhood schizophrenia” was applied to a diverse mix of children with little in common other than their experience of a profound and chronic disturbance in early childhood; term applied to children who today would be diagnosed with autism or some other PDD B. In comparison to autism, COS is associated with a later age of onset, less intellectual impairment, less severe social and language deficits, hallucinations and delusions, and periods of remission and relapse C. COS is not distinct from adult schizophrenia, but rather is a more severe form; however, schizophrenia may be expressed differently at different ages D. DSM-IV-TR: Defining Features 1. Delusions (disturbances in thinking), hallucinations (disturbances in perception), disorganized speech, disorganized or catatonic behavior, “negative” symptoms (i.e., flat affect, alogia, avolition) 2. Signs of disturbance must persist for at least 6 months E. Related Symptoms and Comorbidities 1. High comorbidity with conduct problems and depression 2. Despite the historical association between autism and schizophrenia, children with schizophrenia do not show an elevated risk for autism or other PDDs 3. 90% of children show a clear history of behavioral and psychiatric disturbances before the onset of psychosis F. Prevalence 1. Extremely rare in children under age 12 years of age; estimated prevalence .14 to 1.0 child per 10,000 2. Boys have an earlier age of onset; twice as common in boys, although gender differences disappear in adolescence G. Causes 1. Current views regarding causes are based on a vulnerability-stress model that emphasizes the interplay among vulnerability, stress, and protective factors, in the context of developmental maturation of brain circuitry 2. H. Preliminary evidence suggests a strong genetic contribution to schizophrenia in childhood, even more so than for adults 3. COS appears to particularly associated with family stress; parents have high scores of communication deviance Treatment 1. COS is a chronic disorder with a bleak long-term outcome 2. Current treatments emphasize use of antipsychotic medications in combination with psychotherapeutic, and social and educational support programs 3. Psychosocial treatments, such as social skills training and family intervention, and educational supports are also important