Asperger

Syndrome &
the Spectrum
of Autism

Art Maerlender, Ph.D.

Clinical School Services and Learning
Disorders Program
Child and Adolescent Psychiatry
 The Spectrum

Autism Spectrum Disorders (ASD)

include:
 Autism
 Asperger’s syndrome
 Rett’s Syndrome
 Childhood Disintegrative Disorder
 PDD-nos
Estimates of increasing rates of
Autism
derived from review by Fambonne, 2003

Autistic disorder 10.0 / 10,000

Asperger syndrome 2.5 / 10,000
PDD NOS 15.0 / 10,000

All PDDs 27.5 / 10,000

 USA estimates
Age groups
Under
0-4 5-9 10 – 14 15 – 17 18

Autism 18,987 19,920 20,057 11,818 70,782

Asperger 4,747 4,980 5,014 2,955 17,696

syndrome
PDD-NOS 28,481 29,880 30,086 17,727 106,173

All 52,214 54,780 55,157 32,500 194,650

Based on population projections for 2000 (middle series) Review ed March 06,2001
Increase in Autism:
Public Schools
The number of students with autism
being served in public schools under
IDEA rose in 2000-01.
from 5,415 in 1991-92 to 78,749
In comparison, the number of students
with all disabilities being served under
IDEA rose during the same period.
from 4,499,824 to 5,775,722
Figures from the most
recent U.S. DOE’s 2002
Report to Congress on IDEA
 Students with autism jumped 1,354%
 eight-year period from the school year
1991-92 to 2000-2001.
 Rateof increase is almost 50 times
higher than the rate of increase of for all
disabilities (28.4% ),
 or 26.75% for all disabilities excluding
autism.
Department of Education's
"Twenty-first Annual
Report*"
 period from 1988-89 to 1997-98
 rate of change of 173% for autism
 16% for all disabilities

*"Twenty-fourth Annual Report to Congress on

the Implementation of the Individuals with
Disabilities Education Act (U.S. Department
of Education, 2002),"
Wisconsin Department of Public Instruction reports 1993-1999 and unofficial report for 2000/
Graph from Nissan Bar-Lev, CESA #7
Similar statistics in
Minnesota and other states
 Causes of increase in Minnesota:
 Changes in ed. Policy favoring better
identification
o Services are better for ASD
o Likely under-dx-ed in past
 Autism dx not a substitution for other LD
o Other LD’s increased at slower rate
 Asperger’s Syndrome
Demographics
 Frequency:
 In the US studies indicate rates ranging from 1 case
in 250-10,000 children.
 Mortality/Morbidity:
normal lifespans,
 increased incidence of comorbid psychiatric
maladies (eg, depression, mood disorders,
obsessive-compulsive disorder, Tourette disorder).
 Sex:
 Estimated male-to-female ratio is approximately 4:1.
 DSM-IV
DIAGNOSTIC CRITERIA FOR
ASPERGER'S DISORDER
A. Qualitative impairment in social interaction,

B. Restricted repetitive and stereotyped patterns of

behavior, interests, and activities

C.The disturbance causes clinically significant

impairment in social, occupational, or other
important areas of functioning.
DSM-IV, cont.
D. There is no clinically significant general delay in
language (e.g., single words used by age 2 years,
communicative phrases used by age 3 years).

E. There is no clinically significant delay in cognitive

development or in the development of age-appropriate
self-help skills, adaptive behavior (other than in social
interaction), and curiosity about the environment in
childhood.

F. Criteria are not met for another specific Pervasive

Developmental Disorder or Schizophrenia.
Difficulties with DSM-IV Criteria
Study by Mayes, 2001
 DSM-IV criteria for autistic and Asperger's
disorders were applied to 157 children with
clinical diagnoses of autism or Asperger's
disorder.
 All children met the DSM-IV criteria for
autistic disorder
 none met criteria for Asperger's disorder,
 including those with normal intelligence and
absence of early speech delay.
 Rule-out for AS in
DSM-IV
 Communication problems exhibited by all
children in study:
 impaired conversational speech
 repetitive, stereotyped, or idiosyncratic
speech
 or both
 These are DSM-IV criteria for autism
 No communication criteria under DSM-IV
 ICD-9 Criteria
(All six criteria must be met for confirmation of diagnosis.)

1. Severe impairment in reciprocal social interaction

2. All-absorbing narrow interest
3. Imposition of routines and interests
4. Speech and language problems
5. Non-verbal communication problems
6. Motor clumsiness
1. Severe impairment in
reciprocal social interaction

(at least two of the following);

(a) inability to interact with peers
(b) lack of desire to interact with peers
(c) lack of appreciation of social cues
(d) socially and emotionally
inappropriate behavior
2. All-absorbing narrow
interest

(at least one of the following);

(a) exclusion of other activities

(b) repetitive adherence

(c) more rote than meaning

3. Imposition of routines
and interests
(at least one of the following);
(a) on self, in aspects of life

(b) on others
 4. Speech and language
problems
(at least three of the following)

(a) delayed development

(b) superficially perfect expressive language
(c) formal, pedantic language
(d) odd prosody, peculiar voice characteristics
(e) impairment of comprehension including
misinterpretations of literal/implied meanings
5. Non-verbal
communication problems
(at least one of the following)

(a) limited use of gestures

(b) clumsy/gauche body language
(c) limited facial expression
(d) inappropriate expression
(e) peculiar, stiff gaze
6. Motor clumsiness:

poor performance on
neurodevelopmental
examination
  NLD not yet
AS vs NLD accepted diagnosis
 A cognitive
description
 Considerable
overlap with NLD
 a more general
term
 Many - but not all –
NLD AS AS have NL profile
A continuum of functionality

 Functional skills are a better way to

categorize than diagnosis per se
 There is less difference between HFA
and HF Asperger’s than between LFA
and HFA
 Current practice is to rule-out Autism
 Then rule-out AS (based on ICD-9)
 Then rule-our PDD-nos
 ADI & ADOS
Autism Diagnostic Interview
Autism Diagnostic Observation Schedule

 ADI – detailed parent interview

 ADOS – structured play observation
 Both address critical domains
 Extensive validation
 Training for reliability
 Domains of Interest
 Early Development  Language & Communication
Functioning
 Onset of symptoms
 Social Development & Play
 Motor milestones  Shared interests
 Toilet training  Types of play
 Interests & Behaviors
 Acquisition and Loss of
 Preoccupations
Language/Other Skills
 Compulsions
 Acquisition of single &
 Sensory interests
connected words  General Behaviors
 Loss of language skills  Aggression

 Other skill loss  Special talents

Age of behaviors in ADI

 Because of maturational changes, it is important to

identify abnormalities that are present early, and
that exceed normal developmental expectation
 A focus on ages 4.0 to 5.0 is the criterion age range
for determining the existence of specific behaviors.
 Current ratings are also obtained
 The dx. can be made prior to 4-5, using current
behaviors
 Specific Areas of Focus

Repetitive/narrow interests

Social development Communication

Qualitative Abnormalities in
Reciprocal Social Interactions
Failure to use nonverbal gestures

Failure to develop peer relationships

Lack of shared enjoyment

Lack of socio-emotional reciprocity

Qualitative Abnormalities in
Communication

Delays in
language or use
of gesture

Lack of make-believe or
social imitative play
Failure to initiate or sustain
conversational interchange
 Restricted, Repetitive and
Stereotyped Patterns of Compulsive
Behavior adherence to
nonfunctional
routines or rituals

Preoccupations or
circumscribed pattern of
interests

Stereotyped & repetitive

motor mannerisms

Preoccupation with parts or nonfunctional elements

Abnormalities of
development Before Age 3

Single words
First phrases
Parent’s 1st noticed
Diagnosis based on
ADOS/ADI
 Autism diagnosis is confirmed if
scores exceed cutoff
 Autism spectrum diagnosis is
considered if just below cut-offs
The dimensional nature of
the Autism spectrum
 The variety of patterns is
considerable
 Subtyping is an attempt to
organize patterns
Low vs High Functioning
Autism (Stevens et al, 2000)
 evidence for the validity of 2 subgroups of
 differentiated at school age by behavioral
measures of social abnormality, language
ability, and cognitive level.
 Both development of normal social skills and
the presence of deviant social behaviors
contribute independently to subgroup
membership
 Can have some normal skills and some ‘deviant’
behaviors
High Functioning Group Over Time
 At preschool social behavioral abnormalities equal or
almost equal to those of the low-functioning group;
 these subsided by school age, leaving only mild residual
social symptoms.
 Nonverbal IQ was within average range at preschool and
remained there.
 Receptive vocabulary score mildly depressed at preschool
but normalized, as did Vineland Communication.
 Development of adaptive social skills (as measured by the
Vineland) was mildly delayed at preschool and recovered
into the low normal range,
 suggesting mild social delays, consistent with the residual
mild social abnormalities indicated in this group.
Low Functioning Group Over Time
The development of language skills appears
arrested, actually declining relative to same-age
normal peers over time.
 At preschool, significant abnormalities in all 3 associated
behavioral areas
 social, communicative, restricted/repetitive behaviors,
 as well as cognitive measures.
 behavior abnormalities indicative of autism continued to be
quite pronounced at school age.
 Nonverbal IQ and the development of social skills were
moderately impaired and remained unchanged relative to
peers.
 school-age nonverbal IQ was very heterogeneous, ranging
from 22 to 133.
Prediction of group membership at
school-age
 normal or near normal nonverbal IQ is the most potent
predictor of school-age subgroup membership.
 Normal IQ is necessary for an optimal outcome,
 but it is not sufficient in the presence of significant
language and social delays and abnormalities.
 Lower-functioning preschool subgroup children
overwhelmingly remained in the lower-functioning school-
age group,
 Functional outcomes
 the higher-functioning preschool group split into a good
outcome and a less good outcome group.
 Improvement
 Approximately 38% of the subjects classified in the high-
functioning subgroup at preschool not only improved, but
showed relatively normal scores at school-age follow-up.
 If an a priori cutoff of at least 80 nonverbal IQ is used,
nearly half of the high-functioning subjects at preschool
had generally normal scores upon follow-up several
years later.
Nonverbal IQ, receptive language, and
adaptive functioning (as measured by
Vineland Socialization) were the most
predictive variables of later outcome
 COGNITIVE PROFILES IN AUTISM
Tager-Flusberg & Thomas, 2003

 Autism is often characterized by unevenly

developed cognitive skills.
 Unevenness in the cognitive abilities of
individuals with autism has been most
frequently documented in terms of IQ profiles.
LANGUAGE ABILITIES IN AUTISM

 Deficits in language and communication are

among the defining symptoms of autism
(American Psychiatric Association 1994),
 general agreement that pragmatic and discourse
skills represent core areas of dysfunction
 most children with autism have language deficits
beyond impaired pragmatic ability.
most children with autism show significant delays
in acquiring language
 about half remain essentially NV
 Typical Findings on IQ
Tests
 NV > V (large discrepancy) has been most
strongly associated with autism
 NOT universal among individuals with autism,
 not even necessarily the modal cognitive profile in
autism
 Further, higher-functioning individuals with autism
often evidence V abilities that are superior to their
visuospatial skills in IQ testing
2 subtypes identified
 Language abilities
 Poor oral language functioning
 IQ discrepancy scores
 Exceptional nonverbal IQ
 Language subtype
 behavioural studies indicate that there
is a subtype in autism that overlaps with
SLI.
 separate study of brain structure found
reversed asymmetry in a group of boys
with autism in the frontal language area,
a pattern similar to that found in SLI.
 Cognitive – IQ
Discrepancy Type
 Discrepantly high NV IQ scores were
shown to be related to autism severity,
 and larger head size and brain volume.
 Discrepant NV> V scores were associated
with macrocephaly
 Possibly reflects neuronal overgrowth
 evidence linking the V , NV profile to
enlarged brain volume in addition
to enlarged head circumference.
The STAART Project
 NIMH, NICHD, NINDS Center Grant to study
the nature, causes and treatments of Autism
 5 Centers around the country
 BU Center: 5 studies
 (1U54 MH66398-01, Tager-Flusberg, PI)
 Dartmouth subproject – Bryan King, MD
 test the efficacy of citalopram for the treatment
of children with autism and high rates of
repetitive behaviors.