Transcript Introduction to Autism Spectrum Disorders History and

Introduction to Autism
Spectrum Disorders
History and Neurobiology
William C. Streusand, M.D.
Medical Director, Texas Child Study Center
Chief of Psychiatry, Dell Children’s Medical
Center
Co-Medical Director, Seton Healthcare Autism
Research and Evaluation (S.H.A.R.E.)
Autism as a Schizophrenic Attribute
Bleuler
Eugen Bleuler(1857-1939)-dementia
praecox changed to schizophrenia
 Bleuler coined the word autismus (English
translation autism) in 1910
 Bleuler’s 4 A’s: Autism
Associations
Affect
Ambivalence
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D.B. Klein, 1944
Henry Holt & Co,
Inc.
D.B. Klein, 1944
Henry Holt & Co, Inc.
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P 359,”In technical language, much of our
thinking is dereistic or, as it is sometimes called,
“autistic”. The latter adjective stresses the part
played by the self in encouraging the impulsive
drift of ideas and beliefs in line with wishful
fantasy.”
P 475, autistic, directed inward toward the self;
in line with private longings or wishes
(Contrasted with realistic; hence dereistic, q.v.)
DSM I-1952
000-x28 Schizophrenic reaction, childhood
type
Here will be classified those schizophrenic
reactions occurring before puberty. The clinical
picture may differ from schizophrenic reactions
occurring in other age periods because of the
immaturity and plasticity of the patient at the
time of onset of the reaction. Psychotic reactions
in children, manifesting primarily autism, will be
classified here. Special symptomatology may be
added to the diagnosis as manifestations.
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DSM II-1968
295.8* Schizophrenia, childhood type*
This category is for cases in which schizophrenic
symptoms appear before puberty. The condition may be
manifested by autistic, atypical, and withdrawn
behavior; failure to develop identity separate from the
mother's; and general unevenness, gross immaturity and
inadequacy in development. These developmental
defects may result in mental retardation, which should
also be diagnosed. (This category is for use in the United
States and does not appear in ICD-8. It is equivalent to
"Schizophrenic reaction, childhood type" in DSM-I.)
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Leo Kanner(1894-1981)
Kanner-1943
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The June 1943 issue of the now extinct journal
The Nervous Child carried a paper entitled
Autistic Disturbances of affective contact
The patients were between 2 and 8 years old
when first seen at the Children's Psychiatric
Clinic of the Johns Hopkins Hospital
Description of 11 children with previously
undescribed syndrome
Traits these children presented with included:
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Inability to relate to others
Failure to use language to convey meaning
Need for maintaining consistency
Kanner’s Missed Concepts
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Thought that Autism was not associated with other
medical conditions
Thought that Autistic children were not intellectually
disabled
Thought high social class parents
Ambivalent representation about nature vs. nurturenoted both biological predisposition and “genuine lack of
maternal warmth”
In interview referred to autistic parents as "just
happening to defrost enough to produce a child“ but in
1969 felt he was mistakenly quoted that “it was all the
parent’s fault” and asserted that condition was innate
Hans Asperger(1906-1980)
Asperger-1944
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Originally called the condition Autistic Psychopathy
implying stability over time
Poor non-verbal communication and appreciation
Odd verbal communication-tone and content, “little
professors”
Special obsessional interests that would lead to high
level adult accomplishments
Clumsiness and poor body awareness
Conduct problems
Familial condition
Male predominance, not recognizable before 3
Refrigerator Mom
Popular 50’s through 70’s
 Bruno Bettelheim (1903 –1990) ,
University of Chicago wrote in1967 The
Empty Fortress: Infantile Autism and the
Birth of the Self
 Took autistic children out of their home
long term to correct the problem
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Spectrum?
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Autism and Asperger’s not proposed as a
spectrum until Lorna Wing in 1981
DSM III(1980)-infantile autism & PDD, residual
autism
DSM III-R(1987)-autistic disorder (broader
spectrum criteria), PDD-NOS, Asperger’s as a
mild variant of Autism
Is Asperger’s a linearly less severe variant of
autism or is it (and possibly some other
conditions) a side branch on the severity line?
What are the distinctions between high
functioning autism and Asperger’s?
DSM IV
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Meeting Criteria For Autism:
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Individual must show at least 6 of the 12 symptoms
 At least 2 symptoms from the social domain
 At least 1 symptom from the communication domain
 At least 1 symptom from the restricted behaviors/interest
domain
 Delays or abnormal functioning in at least one of the
following areas, with onset prior to age 3 years: (1) social
interaction, (2) language as used in social communication, or
(3) symbolic or imaginative play
 The disturbance is not better accounted for by Rett's Disorder
or Childhood Disintegrative Disorder
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American Psychiatric Association. (2000).Autism. Diagnostic and statistical manual of mental disorders (4th ed. text revision, pp. 59 –
61). Washington, D.C.
Social Interaction
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(1) qualitative impairment in social interaction, as manifested
by at least two of the following:
(a) marked impairment in the use of multiple nonverbal
behaviors such as eye-to-eye gaze, facial expression, body
postures, and gestures to regulate social interaction
(b) failure to develop peer relationships appropriate to
developmental level
(c) a lack of spontaneous seeking to share enjoyment, interests,
or achievements with other people (e.g., by a lack of showing,
bringing, or pointing out objects of interest)
(d) lack of social or emotional reciprocity
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American Psychiatric Association. (2000).Autism. Diagnostic and statistical manual of mental disorders (4th ed. text revision, pp. 59 –
61). Washington, D.C.
Communication
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(2) qualitative impairments in communication as manifested
by at least one of the following:
(a) delay in, or total lack of, the development of spoken
language (not accompanied by an attempt to compensate
through alternative modes of communication such as gesture
or mime)
(b) in individuals with adequate speech, marked impairment in
the ability to initiate or sustain a conversation with others
(c) stereotyped and repetitive use of language or idiosyncratic
language
(d) lack of varied, spontaneous make-believe play or social
imitative play appropriate to developmental level
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American Psychiatric Association. (2000).Autism. Diagnostic and statistical manual of mental disorders (4th ed. text revision, pp. 59 –
61). Washington, D.C.
Narrow Interests/Repetitive Behaviors
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(3) restricted repetitive and stereotyped patterns of
behavior, interests and activities, as manifested by at
least two of the following:
(a) encompassing preoccupation with one or more
stereotyped and restricted patterns of interest that is
abnormal either in intensity or focus
(b) apparently inflexible adherence to specific,
nonfunctional routines or rituals
(c) stereotyped and repetitive motor mannerisms (e.g.,
hand or finger flapping or twisting, or complex wholebody movements)
(d) persistent preoccupation with parts of objects
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American Psychiatric Association. (2000).Autism. Diagnostic and statistical manual of mental disorders (4th ed. text revision, pp. 59 –
61). Washington, D.C.
Other Diagnoses Where You Are
Doing Great-Then You’re Not
Childhood Disintegrative Disorder
 Rett’s Disorder
 Very Early Onset Schizophrenia
 Some Genetic/Metabolic Diseases
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DSM V Autistic Disorder(299)
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Must meet criteria 1, 2, and 3:
1. Clinically significant, persistent deficits in social communication and
interactions, as manifest by all of the following:
a. Marked deficits in nonverbal and verbal communication used for social
interaction:
b. Lack of social reciprocity;
c. Failure to develop and maintain peer relationships appropriate to
developmental level
2. Restricted, repetitive patterns of behavior, interests, and activities, as
manifested by at least TWO of the following:
a. Stereotyped motor or verbal behaviors, or unusual sensory behaviors
b. Excessive adherence to routines and ritualized patterns of behavior
c. Restricted, fixated interests
3. Symptoms must be present in early childhood (but may not become fully
manifest until social demands exceed limited capacities)
DSM V Autistic Disorder(299)
Replaces
PDD-NOS
 Aperger’s
 Childhood Disintegrative Disorder
 Old Autistic Disorder Criteria
 Gone- Rett’s
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Rationale
Three domains become two:
1) Social/communication deficits
2) Fixated interests and repetitive behaviors
 Deficits in communication and social behaviors are inseparable and more
accurately considered as a single set of symptoms with contextual and
environmental specificities
 Delays in language are not unique nor universal in ASD and are more
accurately considered as a factor that influences the clinical symptoms of
ASD, rather than defining the ASD diagnosis
 Requiring both criteria to be completely fulfilled improves specificity of
diagnosis without impairing sensitivity
 Providing examples for subdomains for a range of chronological ages and
language levels increases sensitivity across severity levels from mild
to more severe, while maintaining specificity with just two domains
 Decision based on literature review, expert consultations, and workgroup
discussions; confirmed by the results of secondary analyses of data from
CPEA and STAART, University of Michigan, Simons Simplex Collection
databases
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Understanding Autism-Eye
Tracking Studies
Klin, Jones, Schultz, Volkmar, &
Cohen(2002) defining and quantifying the
social phenotype in autism. American
Journal of Psychiatry, 159(6), 895-908
 Controls vs. High Functioning Autistic
Young Adults
 Scenes from emotionally evocative movie
 Focus of gaze on eyes vs mouth
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Understanding Asperger’s-Case
Study
Speech
 Concreteness
 Special Interests
 Socialization
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Neurobiology-Many Questions, Too
Many Partial Answers
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Increased head Circumference/Brain Size
Temporal Lobe-excessive methylation of
oxytocin receptors
Amygdala- small size, damaged can show
problems with: recognizing facial expressions,
detecting social faux pas, judging
trustworthiness, attributing social intention
Cerebellum-reduced Purkinje cell complexity,
some areas with smaller size
Mitochondrial Dysfunction
Neurobiology-Many Questions, Too
Many Partial Answers-2
Frontal Lobe-Connectivity problems from
epigenetic factors changes in factors that
influence gene expression
 Orbitomedial and Ventromedial Prefrontal
Cortex-lesions produce social
inappropriateness
 Fusiform (gyrus) Facial Area (FFA)decreased activity in autism in fMRI
studies
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Genetics-NIMH Sponsored Studies
From Pooled Genetic Database
Mutation-one percent of autism was traced
to a conspicuous "hot spot" of missing or
duplicated genes on Chromosome 16
 Inherited-people with autism were more
prone than healthy controls to have certain
versions of a gene on Chromosome 7 , 1%
of ASD
 Chromosome 15 abnormalities in higher
incidence
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Proposed Environmental Etiologies
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MMR Vaccines-multiple studies dispute this
assertion statistically “It may be concluded that it
is quite implausible that MMR is generally
associated with a substantially increased risk of
autism. It is not possible to rule out the
possibility that there may be occasional
idiosyncratic responses to MMR that involve
autism, but there is no good evidence that this
happens.” Michael Rudder( Volkmar, et. al.,
2005)
Proposed Environmental Etiologies
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Thimersol (contains ethyl mercury, vaccine
preservative)- Large demographic study from
Denmark showed discontinuation of this
substance was followed by an increase
incidence in autism in 1992
Food allergies-Gluten-free/Casein-free diet; no
clear scientific support for benefit, anecdotal
only, ? of possible vitamin deficiency if not
supplemented
Leaky Gut Syndrome/Autistic EnterocolitisAndrew Wakefield suggested, generally not
currently thought to be credible
Meanwhile…….
According to the Center for Disease
Control 1 in 110 children have an Autism
Spectrum Disorder
 Boys-1 in 80
 Girls- 1 in 315
 Percent of ASD Children with intellectual
disability is 44%
 Average age of diagnosis is 4.6 years
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ASD Mission
It Is Not A Choice of Whether In Central
Texas We Will Address the Problems
of Autism Spectrum Children and
Their Families
It Is Only a Choice of Whether We Will
Do It Excellently or Poorly
Thank You For
Attending Our First
Autism Spectrum
Disorders
Conference...........
Enjoy!!!
Interesting Links
http://psych.rice.edu/mmtbn/autism/autism
Theory.html
 http://www.autismspeaks.org/
 http://www.nimh.nih.gov/health/topics/autis
m-spectrum-disorders-pervasivedevelopmental-disorders/index.shtml
 http://www.cdc.gov/ncbddd/features/counti
ng-autism.html
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