1. Autism Spectrum Disorders: An Introduction
Rhea Paul, Ph.D., CCC-SLP
Southern Connecticut State University
Yale Child Study Center
Feb , 2008

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 ).”
described echolalia
pronoun reversals
inappropriate word usages
noted better abilities with objects than 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. A Brief History of Autism: 90s-present
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

12. Autism as a final common pathway
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