Autism Spectrum Disorder and Childhood-Onset Schizophrenia

1. 6 Autism Spectrum Disorder andChildhood-Onset Schizophrenia

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

3. 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

4. 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

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

6. DSM-5 Diagnostic Criteria for ASD

7. DSM-5 Diagnostic Criteria for ASD (cont’d.)

8. 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

9. 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

10. 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

11. 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

12. Instrumental and Expressive Gestures

13. 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

14. Difficulty with Pragmatic Use of Language

15. 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

16. 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

17. 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

18. Drawing of a Horse by Nadia, Age 5

19. 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

20. 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

21. 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

22. Embedded Figure Test

23. 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

24. 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

25. 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

26. 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)

27. 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

28. 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

29. 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

30. 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

31. 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

32. 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

33. 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%

34. 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

35. 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

36. 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

37. 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

38. 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

39. 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

40. 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

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

42. 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

43. 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

44. 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

45. 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

46. DSM-5 Diagnostic Criteria for Schizophrenia

47. DSM-5 Diagnostic Criteria for Schizophrenia (cont’d.)

48. 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

49. 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

50. Causes of COS • Neurodevelopmental model • 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