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
 Rhett’s Syndrome
 Childhood Disintegrative Disorder
 PDD-nos
Estimates of increasing rates of
Autism
derived from review by Fambonne, 2003
Autistic disorder
Asperger syndrome
10.0 / 10,000
2.5 / 10,000
PDD NOS
15.0 / 10,000
All PDDs
27.5 / 10,000
USA estimates
Age groups
Under
10 – 14
15 – 17
18
20,057
11,818
70,782
4,980
5,014
2,955
17,696
PDD-NOS 28,481 29,880
30,086
17,727 106,173
All
55,157
32,500 194,650
0-4
Autism
Asperger
5-9
18,987 19,920
4,747
syndrome
52,214 54,780
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.
Rate of 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
o

Services are better for ASD
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
AS vs NLD
 NLD
not yet
accepted diagnosis
 A cognitive
description
 Considerable
NLD
AS
overlap with NLD
 a more general
term
 Many - but not all
– 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
 Onset of symptoms
 Motor milestones
 Toilet training
Acquisition and Loss of
Language/Other Skills
 Acquisition of single &
connected words
 Loss of language skills
 Other skill loss




Language &
Communication
Functioning
Social Development &
Play
 Shared interests
 Types of play
Interests & Behaviors
 Preoccupations
 Compulsions
 Sensory interests
General Behaviors
 Aggression
 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
Behavior
Compulsive
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 schoolage 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 highfunctioning 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
 Poor

abilities
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.