Autism Spectrum Disorders: An Introduction Rhea Paul, Ph.D., CCC-SLP

1. Autism Spectrum Disorders: An Introduction Rhea Paul, Ph.D., CCC-SLP Southern Connecticut State University Yale Child Study Center Feb. 11-15, 2008 rhea.paul@yale.edu

2. Diagnostic Concepts: Pre 1940 • Insanity of Childhood (Maudsley, 1867) • Dementia Praecox (Kraeplin, 1893) • Dementia Praecocissima (DeSanctis, 1906) • Dementia Infantilis (Heller, 1908) • Childhood Schizophrenia (Potter, 1930)

3. A Brief History of Autism: Kanner (1943) “There is from the start an extreme autistic aloneness (p. 33)… these children have come into the world with innate inability to form the usual, biologically provided affective contact with people, just as other children come into the world with innate physical or intellectual handicaps (p. 42-43).” • described echolalia • pronoun reversals • inappropriate word usages • noted better abilities with objectsthan with people

4. A Brief History of Autism: Kanner (1943) • Autism first used by Leo Kanner (1943) to describe a syndrome of "disturbances in affective contact," • observed in eleven boys who • lacked the dysmorphology often seen in mental retardation, • lacked social motivation toward communication and interaction. • Did well on some parts of IQ tests leading to speculation they were not MR • Kanner borrowed autism from Bleuler (1950), • used to describe the withdrawal into fantasy world seen in people with schizophrenia. • Kanner's report stated that autism was an inborn, constitutional disorder, but • choice of terminonology led to some confusion about the source of the deficits in autism.

5. Hans Asperger • At about the same time, a German psychiatrist reported a similar syndrome (Asperger, 1944) • Boys reported to be highly intelligent and verbal but socially inept • Like “little professors” • Noticed similar profile in their fathers • Asperger’s report was not translated from the German until the 1980s • it had little impact on the literature on autistic syndromes in the English speaking world. • Still a matter of debate: • Do the intelligent boys with well-developed language, poor social skills, and obsessive interests have something different from Kanner’s autism? • Or merely a variety of autism in high functioning individuals?

6. A Brief History of Autism: 1950s • Work on autism through the 1960s dominated by psychoanalysts (e.g., Bettelheim, 1967) • focused on the theory that autism was caused by "refrigerator mothers.” • Other mental illnesses were also seen this way; e.g., schizophrenia • Kanner's boys came from upper middle class, often intellectual families, reinforcing suggestion that autism was the result of cold parenting. • In the 1970s research began to show that autism, properly diagnosed, can be seen in all social classes in every part of the world • At the same time, grassroots efforts by parents to dispel “refrigerator mother” myth • Parents of children with autism had other, normal children

7. A Brief History of Autism: 60s-70s • 1970s Rutter, Wing researched cognitive and linguistic impairments • This led to behavioral/educational Rx • Wing’s patterns of autistic presentation • Aloof • Passive • Active but odd • Cohen, others, began neurobiological research

8. A Brief History of Autism: 70s-90s • 1990s focus on interrelated core symptoms: socio-communicative, social-cognitive dysfunctions • DSM-IV criteria (1994): triad of impairments • Impairment in social interaction • Impairment in communication • Restricted, repetitive and stereotyped patters of behaviors, interests, and activities • ICD-10 criteria: PDD defined by • abnormal and/or impaired development that is manifest before the age of 3 years • abnormal functioning • social interaction • communication • restricted, repetitive behavior

9. Etiology of Autism: A brief history • Early focus on parents • Psychodynamic views • BUT evidence against • No abnormalities in child care • No major personality problems • No obvious deficits in parenting • By 1970's a large body of evidence favoring neurobiological etiology

10. 1990s-present: Biological Influences • It is now clear that the disorders seen in autism originate in the child, not the parents. • Neurochemical differences are seen in pts. (hyperserotonemia) • Head size and brain differences are subtle, but measureable • Prenatal abnormalities (trophoblasts) • Research on the genetics of autism suggests there are heritable factors that convey a susceptibility (Rutter, Bailey, Simonoff, & Pickles, 1997). • Social, communicative, and cognitive difficulties seen in varying degrees in parents, siblings, and other relatives (Broader autism phenotype-BAP) • Although genetic factors contribute to appearance of autism, it can also be associated with other medical conditions. • 25% of individuals with autism develop seizure disorders (Rapin, 1991). • Tuberous sclerosis (abnormal tissue growth) associated with autism • The co-occurrence of autism and Fragile X syndrome (the most common heritable form of mental retardation) is higher than would be expected (Dykens & Volkmar, 1997).

11. DSM-IV Field Trial to validate diagnostic criteria Definition of syndromes and subgroups within PDD spectrum New areas of research: Neuroimaging Genetics Event-related potentials Theory of Mind; neuropsychology Early identification and intervention Treatment research Psychopharmacology Behavioral/Educational Fig. 1. AV emotional stimuli greater than AV bouncing ball perception; arrows point to the right STS STS A Brief History of Autism: 90s-present

12. Etiology Autism as a final common pathway • CNS Pathology • seizures, "soft" sign, reflexes, EEG abnormalities • Other medical conditions • infectious, structural, chromosomal, etc. • Strongest associations: Fragile X (1%) & Tuberous sclerosis • Genetic Factors • Need for testable neurobiological hypotheses and mechanisms

13. Diagnostic Concepts: Post 1940 • Early Infantile Autism (Kanner, 1943) • Autistic Psychopathy (Asperger, 1944) • Atypical Personality (Rank, 1949) • Pervasive Developmental Disorder (APA, 1980) • Autism Spectrum Disorders (2000s)

14. Behavioral Features • Severe social deficits • Communication deficits (verbal and nonverbal) • Unusual responses to environment • Insistence on Sameness • Stereotyped movements • Special interests/preoccupations

15. Social Disturbance • Distinctive & greater than expected given MA • Some social skills emerge with time • Types • Aloof • Passive • Active but Odd • Deficits in • mutual gaze • joint attention • theory of mind

16. Triad of Symptoms that Define Autism in DSM-IV • Severe, qualitative impairment in social interaction • Qualitative impairment in communication • Delayed language = autism or PDD-NOS • No language delay = AS • Restrictive, repetitive or stereotyped behaviors or interests

17. Empirical Bases for DSM-IV • Field Trial: Volkmar et al., 1994 • Multiple sites • 977 patients with autism, other pervasive developmental disorders, and other disorders • standard coding system used • 125 raters with range of experience • Patterns of agreement among existing diagnostic systems examined • International Classification of Diseases (ICD), 10th Revision, most closely approximated the clinicians' diagnoses • Inclusion of other disorders within pervasive developmental disorders appeared justified • Modifications in the ICD-10 definition were made; DSM-IV definition made equivalent

18. Normal Social Development • From the first days of life infants are profoundly sociable • Human face/voice are the most interesting stimuli in the environment • Early emergence of • Selective attention to faces and voices • Social reciprocity: mutual gaze, smiling • Attachments to familiar people • Social-communicative skills

19. Early Acquired Social Skills Joint attention, attachment, imitation

20. Normal Social Interaction: Infants

21. Normal Social Interaction: Toddlers

22. Normal Social Interaction: Preschoolers

23. Normal Social Interaction: Language Delay: Brittany

24. Normal Social Interaction: Language Delay

25. Autism Every Day video • http://www.milestonevideo.tv/nonprofit.php