Autism Spectrum Disorder and Childhood-Onset Schizophrenia 6 Autism Spectrum Disorder and Childhood-Onset Schizophrenia

Autism Spectrum Disorders (ASD) A complex neurodevelopmental disorder characterized by abnormalities in social behavior, language and communication skills, and unusual behaviors and interests

Description and History ASD refers to pervasive developmental disorders (PDDs) characterized by significant impairments in social and communication skills, and by stereotyped patterns of interests and behaviors

Description and History (cont’d.) Kanner (1943) coined the term “early infantile autism” to describe young children with autistic symptoms Asperger (1944) defined a milder form of autism ► Asperger’s disorder Autism is a biologically-based lifelong neurodevelopmental disability present in the first few years of life

DSM-5 Defining Features of ASD Impairments in social interaction Impairments in communication Restricted repetitive and stereotyped patterns of behavior, interests, and activities

DSM-5 Diagnostic Criteria for ASD Table 6.1 DSM-5 Diagnostic Criteria for Autistic Disorder Source Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders. American Psychiatric Association.

DSM-5 Diagnostic Criteria for ASD (cont’d.) Table 6.1 DSM-5 Diagnostic Criteria for Autistic Disorder Source Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders. American Psychiatric Association.

Autism Across the Spectrum Three factors contribute to the spectrum nature of autism Children with autism may differ in level of intellectual ability, from profound disability to above-average intelligence Children with autism vary in the severity of their language problems The behavior of children with autism changes with age

Core Deficits of ASD Debate about core deficits of ASD Several deficits likely affect the child’s: Social-emotional development Language development Cognitive development These aspects of development are interconnected

Social Interaction Impairments Deficits in social and emotional reciprocity Unusual nonverbal behaviors Social imitation, sharing focus of attention, make-believe play Limited social expressiveness Atypical processing of faces and facial expressions Joint attention

Communication Impairments One of the first signs of language impairment is inconsistent use of early preverbal communications Use protoimperative gestures rather than not protodeclarative gestures Miss other declarative gestures, such as showing gesture About 50% do not develop any useful language

Instrumental and Expressive Gestures Figure 6.1 Instrumental and expressive gestures. Children with ASD may use gestures to get others to do things for them but not to convey feelings Photo Credits (a) © 2012 Karin Dreyer Photography/Jupiterimages Corporation (b) © 2012 Image Source/Jupiterimages Corporation (c) © 2012 Michaela Begsteiger/ Jupiterimages Corporation (d) © 2012 Digital Vision/Jupiterimages Corporation.

Communication Impairments (cont’d.) Those who begin to speak may regress between 12-30 months Children with ASD who develop language usually do so before age 5 Qualitative language impairments Pronoun reversals Echolalia Perseverative speech Impairments in pragmatics

Difficulty with Pragmatic Use of Language Figure 6.2 Children with ASD have difficulty with the pragmatic use of language Photo Credits 2012 PhotoAlto/Eric Audras/jupiterimages Corporation

Restricted and Repetitive Behaviors and Interests Stereotyped body movements Repetitive sensory and motor behaviors Insistence on sameness behaviors Self-stimulatory behavior Different theories A craving for stimulation to excite their nervous system A way of blocking out and controlling unwanted stimulation from environment that is too stimulating Maintained by sensory reinforcement it provides

Associated Characteristics of ASD Children with ASD display a number of associated characteristics Intellectual deficits and strengths Sensory and perceptual impairments Cognitive and motivational deficits Medical conditions and physical characteristics

Intellectual Deficits and Strengths About 70% of autistic children with autism have co-occurring intellectual impairment A common pattern is low verbal scores and high nonverbal scores About 25% have splinter skills or islets of ability 5% (autistic savants) display isolated and remarkable talents

Drawing of a Horse by Nadia, Age 5 Figure 6.3 Drawing of a horse by Nadia at age 5. Source Nadia A Case of Extraordinary Drawing Ability, 978-0126357509, 1977, Selfe, 1 figure only. Copyright Elsevier 1977.

Sensory and Perceptual Impairments Oversensitivities or undersensitivities to certain stimuli Overselective and impaired shifting of attention to sensory input Impairments in mixing across sensory modalities Sensory dominance Stimulus overselectivity

Cognitive and Motivational Deficits Deficits in processing social-emotional information Difficulty in situations that require social understanding Do not understand pretense or engage in pretend play Deficit in mentalization or theory of mind (ToM) - difficulty understanding others’ and their own mental states Do not understand false-belief tests

General Deficits Executive functions (higher-order planning and regulatory behaviors) Weak drive for central coherence (strong human tendency to interpret stimuli in a relatively global way to account for broader context) Do well on tasks requiring focus on parts of stimulus

Embedded Figure Test Figure 6.4 Embedded Figures Test children with autism perform relatively well on tasks that require attention to details of a figure rather than the overall pattern. Source From A Manual for the Embedded Figures Test by H. A. Witkin, P. K. Oltman, E. Raskin, and S. A. Karp, pp. 21–26. Consulting Psychologists Press, Inc. Copyright © 1971 by Stephen Karp. Reprinted by permission of S. A. Karp

What is Specific to ASD? Lack of ToM is one of the most specific to ASD Deficits in processing socio-emotional information and executive functioning deficits are less specific to ASD

Are Cognitive Deficits Found in All ASD? A single cognitive abnormality cannot explain all the deficits present in in children with ASD There is a view that children with ASD have an underlying impairment in social motivation

Medical Conditions and Physical Characteristics About 10% of children with ASD have a coexisting medical condition Motor and sensory impairments, seizures, immunological and metabolic abnormalities Sleep disturbances occur in 65% Gastrointestinal symptoms occur in 50% About 20% have a significantly larger- than-normal head size—more common in those who are higher functioning

Accompanying Disorders and Symptoms Two most common disorders Intellectual disability Epilepsy Other disorders - ADHD, conduct problems, anxieties and fears, and mood problems May engage in extreme and sometimes potentially life-threatening self-injurious behaviors (SIB)

Prevalence and Course of ASD Worldwide: 100 children per 10,000 may suffer from some form of autism Autistic disorder - 22 of 10,000 PPD-NOS - 33 of 10,000 Asperger’s disorder - 10 of 10,000 One million or more individuals in the United States Occurs in all social classes and identified worldwide

Age of Onset Most often identified by parents in the months preceding child’s second birthday Diagnosis is made in preschool period or later Earliest point in development for reliable detection period is from 12-18 months Diagnoses made around 2-3 years are generally stable AAP recommends that all children be screened at 18-24 months

Course and Outcome Children with ASD may develop along different pathways Often gradual improvements with age, Likely to continue to experience many problems Symptoms may worsen in adolescence Complex obsessive-compulsive rituals may develop in late adolescence and adulthood

Causes of ASD It is now generally accepted that autism is a biologically based neurodevelopmental disorder with multiple causes Problems in early development Genetic influences Brain abnormalities A disorder of risk and adaptation

Problems in Early Development Children with ASD experience more health problems during pregnancy, at birth, or immediately following birth Prenatal and neonatal complications have been identified in a small percentage of children with ASD Examples: parental age, in vitro fertilization, and maternal use of drugs

Genetic Influences Chromosomal and gene disorders Fragile-X anomaly occurs in 2-3% of children with ASD ASD individuals have a 5% elevated risk for chromosomal anomalies About 25% of children with tuberous sclerosis have ASD

Family and Twin Studies 15-20% of siblings of individuals with ASD have the disorder Broader autism phenotype Concordance rates 70-90% in identical twins Near 0% for fraternal twins Heritability of an underlying liability for ASD is 90%

Molecular Genetics Points to particular areas on many different chromosomes as possible locations for genes for ASD Causally implicated but not a direct cause ASD is likely to be a complex genetic disorder Expression of ASD genes may be influenced by environmental factors occurring primarily during fetal brain development Epigenetic dysregulation may be a factor

Brain Abnormalities Behavioral features of ASD may result from abnormalities in brain structures Lack of normal connectivity and communication across brain networks Multiple brain regions may be involved

Brain Abnormalities – Biological Findings Cerebral gray and white matter overgrowth Structural abnormalities: In the cerebellum and medial temporal lobe and related limbic system structures Decreased blood flow in the frontal and temporal lobes Elevated blood serotonin in 33% of cases Atypical patterns of connectivity in default mode network

ASD as a Disorder of Risk and Adaptation The relationship between the child’s early risk for ASD and later outcomes Is mediated by alterations in how the child interacts with and adapts to his or her environment Different children will follow different developmental pathways

Treatment of ASD There are about 400 different treatments for ASD There is no known cure Treatment goals Minimize core problems Maximize independence and quality of life Help the child and family cope more effectively with the disorder

Overview of Treatment Strategies Engaging children in treatment Decreasing disruptive behaviors Teaching appropriate social behavior Increasing functional, spontaneous communication Promoting cognitive skills Teaching adaptive skills to increase responsibility and independence

Treatment Strategies: Initial Stages Initial stages focus on building rapport and teaching learning-readiness skills Discrete trial training involves a step-by-step approach to presenting stimulus and requiring a specific response Incidental training strengthens behavior by capitalizing on naturally occurring opportunities

Early Intervention Intensive 25 hours a week and 12 months a year Low student-teacher ratio High structure Family inclusion Peer interactions Generalization

Medications Many children with ASD receive psychotropic medications Antidepressants, stimulants, and tranquilizers/ antipsychotics Benefits are limited Variable from child to child Core deficits of these children are not altered Risks, benefits, and costs must be carefully evaluated

Childhood-Onset Schizophrenia (COS) Schizophrenia is a neurodevelopmental disorder of the brain - expressed in abnormal mental functions and disturbed behavior Characterized by severe psychotic symptoms bizarre delusions, hallucinations, thought disturbances, grossly disorganized behavior or catatonic behavior, extremely inappropriate or flat affect, and significant deterioration or impairment in functioning

Childhood-Onset Schizophrenia (cont’d.) COS is a rarer and possibly more severe (not distinct) form of schizophrenia Key features Occurs during childhood Has a gradual, rather than sudden onset Is likely to persist into adolescence and adulthood Has profound negative impact on developing social and academic competence

DSM-5 Positive and Negative Symptoms Positive symptoms Delusions Hallucinations most common for children are auditory - occur in 80% of cases with onset prior to age 11 40 to 60% experience visual hallucinations, delusions, and thought disorder Negative symptoms Slowed thinking, speech, movement; emotional apathy; and lack of drive

DSM-5 Diagnostic Criteria for Schizophrenia Table 6.2 Diagnostic Criteria for Schizophrenia Source Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders, American Psychiatric Association.

DSM-5 Diagnostic Criteria for Schizophrenia (cont’d.) Table 6.2 Diagnostic Criteria for Schizophrenia Source Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders, American Psychiatric Association.

Precursors and Comorbidities Gradual onset Almost 95% have history of behavioral, social, and psychiatric disturbances before onset of psychosis Developmental precursors Other symptoms/disorders 70% meet criteria for another diagnosis - most commonly mood disorder or ODD/CD COS and ASD may not be linked

Prevalence Extremely rare in children under age 12 Dramatic increase in adolescence, with a modal onset around 22 years of age Estimated prevalence is less than 1 per 10,000 children COS has an earlier age of onset in boys by two to four years Gender differences disappear in adolescence

Causes of COS Neurodevelopmental model Biological factors Defective neural circuitry increases a child’s vulnerability to stress Biological factors Strong genetic contribution Molecular genetic studies have identified several potential susceptibility genes CNS dysfunction and improvements with medication suggest it is a disorder of the brain

Causes of COS (cont’d.) Environmental factors Familial disorder and nongenetic factors may play a role through interaction with a genetic susceptibility High communication deviance Stress, distress, and personal tragedy experienced by families of children with schizophrenia

Treatment of COS COS is a chronic disorder with a poor long-term prognosis Current treatments emphasize use of antipsychotic medications combined with psychotherapy and social and educational support programs Medications help control psychotic symptoms There can be serious side effects