Asperger Asperger Syndrome & Syndrome & the Spectrum the Spectrum

of Autismof Autism

Art Maerlender, Ph.D.Art Maerlender, Ph.D.Clinical School Services and Learning Disorders ProgramChild and Adolescent Psychiatry

The SpectrumThe 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 10.0 / 10,000

Asperger syndrome 2.5 / 10,000

PDD NOS 15.0 / 10,000

All PDDs 27.5 / 10,000

USA estimates

0-4 5-9 10 – 14 15 – 17

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

Aspergersyndrome

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

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

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

Age groupsUnder

18

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 Department of Education's "Twenty-first Annual "Twenty-first Annual Report*"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

identificationo Services are better for ASDo Likely under-dx-ed in past

Autism dx not a substitution for other LDo Other LD’s increased at slower rate

Asperger’s SyndromeDemographics

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-IVDSM-IV DIAGNOSTIC CRITERIA FOR DIAGNOSTIC CRITERIA FOR

ASPERGER'S DISORDERASPERGER'S DISORDERA. 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 interest3. Imposition of routines and interests 4. Speech and language problems5. Non-verbal communication problems6. 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 4. Speech and language problemsproblems

(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 descriptionConsiderable

overlap with NLD a more general

termMany - but not all

– AS have NL profile

ASNLD

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 & ADOSADI & ADOS

Autism Diagnostic InterviewAutism 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

CommunicationSocial development

Repetitive/narrow interests

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

Preoccupations or circumscribed pattern of interests

Compulsive adherence to nonfunctional routines or rituals

Preoccupation with parts or nonfunctional elements

Stereotyped & repetitive motor mannerisms

Abnormalities of Abnormalities of development Before Age 3development 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 TimeLow 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 COGNITIVE PROFILES IN AUTISM Tager-Flusberg & Thomas, 2003

Autism is often characterized by unevenly developed cognitive skills.

Unevenness in the cognitive abilities ofindividuals with autism has been most frequently documented in terms of IQ profiles.

LANGUAGE ABILITIES IN AUTISMLANGUAGE 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 scoresExceptional 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 additionto 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.