Update on Developmental Disorders & Autism Spectrum: Differential Diagnosis and
Intervention
Gail J. Richard, Ph.D., CCC-SLP
Eastern Illinois University
gjrichard@eiu.edu
I.
Facts & Figures of Interest
A.
Autism: “Self” - Kanner, - 1943
B.
Prevalence: 2nd most common developmental disability- 1 per 110
C.
Gender Ratio: Higher Incidence in Males (2.6 M / 1 F)
D.
Primary Symptoms
1.
Communication
a.
40% mute / nonverbal / apraxia
b.
Echolalia
c.
Perseveration
d.
Jargon
e.
Monotone
f.
Delays & Differences
2.
Social interaction
a.
Abnormal relationships
b.
Difficulty relating to self, others, environment
3.
Stereotypic Behaviors
a.
Rituals & Routines
b.
Insistence on sameness
c.
Abnormal Sensory Response: hypersensitive; hyposensitive
4.
Present at Birth
II.
Definitions
A.
Operational Definition: Autism: A physical disorder of the brain that
causes a lifelong developmental disability.
(Powers - 1989, 2000)
B.
Educational Definition: Autism means a developmental disability significantly
affecting verbal and on-verbal communication and social interaction, generally
evident before age three, that adversely affects the child’s educational
performance. Other characteristics often associated with autism are
(IDEA,P.L. 101-476,section 330.7 (b)(1)
1.
engagement in repetitive activities and stereotyped movements
2.
resistance to environmental change or change in daily routines
3.
unusual responses to sensory experiences
C.
Medical Definition: DSM IV Diagnostic Criteria for Autistic Disorder
1.
Qualitative impairment in social interaction
2.
Qualitative impairments in communication
3.
Restricted, repetitive and stereotyped patterns of behavior, interests, and
activities
4.
Delays for abnormal functioning in areas of social interaction, language
as used in social communication, and/or symbolic play or imaginative
play with onset prior to age 3 years.
III.
Assessment Research on Autism
A.
Susceptible to autism: Advocacy group joins NIH in gene research
1. 5 Institutes at NIH and 3 private autism organizations
2.
3.
4.
5.
B.
C.
D.
IV.
Common goal of understanding ASD
Speculate as much as 90% of variance in disorder due to hereditary factors
Strong interaction between environmental factors & multiple unknown genes
As research gains better understanding of genes responsible for ASD, better
able to distinguish between different variants of disorder and then able to
target therapies and intervention
6. Exploring knowledge of genetic factors – chromosomes 7, 10, 19
Paternal Age tied to risk of autism
1. Children of men age 40 and older – significant increased risk than those
under 30 -6 times greater
2. Older age in mothers not associated with autism
3. Question spontaneous mutation in sperm
Different genes for autism in male vs. females
1. Multiple genes contribute to autism
2. Biological difference in autism for females vs. males
3. Evidence of two genetic subtypes
4. Show support for autism gene on chromosome 7
5. Less compelling evidence for gene on chromosome 3,4,11
NIMH launches 3 autism trials 1. Define biological and behavioral difference in children with autism;
Better differentiate multiple disorders that comprise ASD and its subtypes,
such as regressive vs nonregressive; subtypes that environmental factors
seem to trigger symptoms
2. Use of antibiotic minocycline to treat regressive autism;
Investigate link with changes in immune response that cause inflammation
brain – anti-inflammatory effects
3. Chelation therapy; Remove heavy metals from blood can also remove
essential mineral nutrients (e.g., calcium, iron, zinc); Used to treat lead
toxicity
ASD Screening
A.
Pediatricians Unfamiliar with tools
1. Few pediatricians screen regularly for ASD
2. Physicians lack familiarity with screening tools for ASD
3. Of those who reported screening for ASD, 905 prompted by parent concerns
4. Of 255 in Maryland & Delaware, 82% screen for developmental delays, but
only 85 for ASD
B.
Diagnostic Screening Instruments
1. Gilliam Autism Rating Scale (GARS)
a. Stereotyped Behaviors
. b. Communication
c. Social Interaction
d. Development
2. Childhood Autism Rating Scale (CARS)
3. Differential Assessment of Autism and Other Developmental Disorders
(DAADD)
a. Purpose
1) Identify pertinent childhood behaviors used to discriminate
developmental disorders
2) Common features across many disorders
3) Become more distinct as progress through preschool years
C.
4) Better able to differentiate with time
b. Disorders included in DAADD
1) Autism
2) Rett’s
3) Asperger
4) PDD-NOS
5) Processing – LLD
6) Mental Retardation
7) Other Medical Syndromes
c. Developmental Areas on DAADD
1) Language
2) Pragmatic / Social
3) Sensory
4) Motor (Gross and Fine)
5) Medical / Physical
6) Behavior
d. Interpretation of DAADD
1) Complete based on observation
2) Use 40% as indicator of differentiation
3) Heighten awareness of overlap among disabilities
4) Dangers of differential diagnosis too early
5) Identify areas for intervention goals
Early Onset & Regression
1. Examination of first and second year birthday parties
2. Worsening of social and/or communication skills during second year
V.
Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition
American Psychiatric Association, 1994, 2000
A.
DSM-IV - Axis I: Clinical Disorders
1. Mental Retardation (coded on Axis II)
2. Learning Disorders
3. Motor Skills Disorders
4. Communication Disorders
5. Pervasive Developmental Disorder (Autism Spectrum Disorders)
6. ADD/Disruptive Behavior
7. Feeding/Eating Disorders
8. Tic Disorders
9. Elimination Disorders
10. Other Disorders of Infancy, Childhood, or Adolescence
B.
Pervasive Developmental Disorders (PDD/ASD)
1. Autism Disorder
2. Rett’s Disorder
3. Childhood Disintegrative Disorder
4. Asperger’s Disorder
5. Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS)
VI.
Differential Diagnosis in Autism Spectrum Disorders
A.
Rett’s Syndrome Facts
1. Mutation of gene on X chromosome; MECP2 – lethal to male fetus if
defective; females have “back-up” copy of X chromosome
2. Exclusive to females
B.
C.
D.
3. 1 in 10,000 - 15,000 births
4. neurological regression at approximately one year of age
5. stereotypic hand movements
6. Common cause of mental retardation in females
DSM-IV Diagnostic criteria for Rett
1. All of the following:
a. normal prenatal and perinatal development
b. normal psychomotor dev. thru first 5 months
c. normal head circumference at birth
2. Onset of the following after period of normal dev.
a. deceleration of head growth between 5-48 months
b. loss of previously acquired purposeful hand skills; development of
stereotypic hand movements
c. loss of social engagement
d. poorly coordinated gait and trunk movements
e. severely impaired expressive & receptive language development with
psychomotor retardation
Onset Stages for Rett
1. Stage One
a. Developmental Stagnation
b. Deceleration of head and body growth
c. Diminished interest in the environment
2. Stage Two (20-60 mo)
a. Increased deterioration
b. Loss of previously acquired skills in speech and cognition
c. Loss of purposeful hand movements; hand wringing
d. Apraxia
e. Seizures
f. Screaming
g. Sleep Problems
h. Resembles autism
3. Stage Three (>60 months)
a. Seizures
b. Identified mental retardation
a. Apraxia
b. Ataxia
c. Behavioral Plateau
d. Autistic features decrease; more social
4. Stage Four
a. Further deterioration in communication and cognition
b. Decreased mobility
c. Muscle wasting
d. Dysfunctional breathing patterns
Speech-Language Issues for Rett
1. Apraxia
a.
Breath Control
b.
Oral Motor Strength
c.
Sound Production
2. Feeding / Chewing / Swallowing Issues
3. Language
a.
Receptive
E.
F.
VII.
b.
Expressive
c.
Augmentative/Alternative Communication
DSM criteria for Childhood Disintegrative Disorder
1. Normal development in all areas for at least first 2 years
2. Clinically significant loss of previously acquired skills (before age 10 years)
in at least two of the following areas:
a. expressive or receptive language
b. social skills or adaptive behavior
c. bowel or bladder control
d. play
e. motor skills
3. Abnormalities of functioning in at least two areas
a. qualitative impairment in social interaction
b. qualitative impairments in communication
c. restricted, stereotyped patterns of behavior, interests, & activities
Pervasive Developmental Disorder – Not Otherwise Specified
1. Behavioral profile fits best under PDD heading
2. Doesn’t meet any of four subcategory criterion
3. Referred to as Atypical Autism
4. Usually milder symptoms; social/pragmatic aspect as impaired, isolated
Differential Diagnosis in Asperger Syndrome
A.
Background Information
1. Dr. Hans Asperger - Austrian pediatrician - 1944
2. Population of children with significant problems in social adjustment, clumsy
movements, extreme interests in bizarre subjects
3. Theorized genetic transmission - high incidence of similar characteristics in
fathers of the boys; occurs more often in males than females
4. Neurobiological disorder
5. Separate and distinct clinical entity from autism;
6. More right hemisphere - non-verbal LD
B.
DSM IV Diagnostic criteria for Asperger Disorder
1. Qualitative impairment in social interaction
2. Restricted repetitive & stereotyped patterns of behavior, interests,& activities
3. Clinically significant impairment in social, occupational, or other areas of
functioning
4. No clinically significant general delay in language
5. No clinically significant delay in cognitive development or age appropriate
self-help skills, adaptive behavior, & curiosity about environment
C.
Primary Features of Asperger identified in previous studies
1. Lack of empathy
2. Autistic social impairment; little ability to form friendships
3. Intense interest in certain subjects
4. Clumsy; poor coordination
5. Concrete, pedantic speech
6. Poor nonverbal communication
7. No significant cognitive or language delays
D.
Asperger Contradictory Features
1. Good language, poor communication
2. Social interest, poor skills
3. Idiosyncratic, but engrossing interests
E.
F.
4. Great monologue, poor dialogue
5. Good verbal expression, poor nonverbal expression
6. Good IQ, mix of learning problems
Speech / Language Development
1. Onset delayed; can also be normal or precocious
2. First words unusual – object rather than person (mama, dada)
3. Peculiar word usage
4. Long winded monologues
5. Third person referral, pronoun reversals and confusion
Speech-Language Issues
1. Pragmatic Language
a.
Understanding social cues
b.
Expanding social skills
2. Receptive Language
a.
Processing
b.
Figurative Language
3. Expressive Language
a.
Vocal characteristics – suprasegmentals
b.
Nonverbal features
c.
Discourse
ASPERGER
vs.
More right-side brain problems
Not good in music
Language more OK
Performance IQ more impaired
Fine motor deficits
VIII.
HIGH FUNCTIONING AUTISM
More left-side brain problems
Better in music
Language more impaired
Verbal IQ more impaired
Nonverbal Learning Disorder
A.
Nonverbal Learning Disorders – DSM IV
1. Learning Disorders
2. Reading Disorder
3. Mathematics Disorders
4. Disorder of Written Expression
5. LD-NOS
B.
Nonverbal Learning Disorder Contradictory Features
1. Good auditory memory, poor nonverbal memory
2. Good auditory / verbal attention; poor tactile / visual attention
3. Good auditory perception, poor visual & tactile perception
4. Good rote verbal capacity & fluency; poor nonverbal concept formation
5. Good receptive comprehension; poor comprehension of facial expression &
body language
6. Good simple motor skills; poor visual-spatial organization and integration
C.
Speech-Language Problems
1. Over-reliance on talk
2. Rigid thinking; focus on detail
3. Difficulty switching from rote to conceptual learning
4. Impaired ability to derive meaning
5. Poor understanding of non-verbal cues
IX.
Asperger Syndrome versus Nonverbal Learning Disorder
A.
Research
1. Clinically overlapping disorders; Co-morbidity (D. Rosenn, MD, 2001)
2. 80% of Asperger have NVLD
3. Difficult to distinguish mild Asperger and mild NVLD
4. 65% of Asperger have ADHD
5. Don’t respond to Ritalin or other ADHD meds
6. Can become more anxious; side-effects more pronounced
B.
Factors that relate Asperger & Nonverbal Learning Disorders
1. New research regarding pathogenesis of autism and related disorders – fibers
that link cerebellum, basal ganglia, and pre-fontal lobes
2. Focus on inhibitory control over thoughts, attention, and action
a. Relationship with working memory
b. Maturation from birth through early 20’s
c. Working memory develops in conjunction with processing speed
d. Deteriorates in elderly
C.
Research by M. Casanova et. al. – Neurology, February 12, 2002
1. Neurological / structural differences in brain tissue
2. Results
a. too much communication
b. too little inhibition
c. tendency to shut out too much of the world
3. Inhibition and working memory may be key to self-regulation
a. Problem knowing what to inhibit if can’t hold what’s relevant in mind
b. Person can’t interrelate, reorder and play with information held in mind
c. Also linked to executive function
d. Impairment in inhibition
e. OCD
f. ADD/ADHD
D.
Right hemisphere has more association areas and specializes in intermodal
integration; Left hemisphere processes by specific modality areas
E.
Right Hemisphere Deficits
1. Social Skills
2. Prosody
3. Spatial Orientation
4. Problem Solving
5. Recognition of Nonverbal Cues
F.
Nonverbal Learning Deficits
1. Misread verbalizations
2. Deficits in social perception of self and others (Gaddes, 1985)
3. Deficits in interpretation of emotion & visual-spatial tasks (Wiig, Harris,
1974)
4. Deficits in differentiating and interpreting facial expressions (Badian, 1983)
G.
Similarities Between Asperger vs. Nonverbal LD
1. Poor motor planning
2. Lack ability to generalize
3. Lack ability to read gestures and facial expression
4. Poor social skills
5. Inflexible; can’t adapt to change
H.
Differences in Asperger Syndrome vs. Nonverbal Learning Disorder
Asperger
 Left-handed
 Visual learner
 Slow auditory processing
 Good at math
 Verbose; repetitive; obsessive narrow interests;
 Usually respond to music
 Look “autistic” when young
 Okay with solitary life
 Mimic conventions
 Odd prosody; pedantic
 Amass factual information
I.
J.
Nonverbal Learning Disorder
Right-handed
Auditory learner
Visual-motor deficits
Poor at math
Less talkative
Often not responsive to music
Look normal when young
Wants friends
Say it like it is
No major prosodic stereotypes
Don’t amass factual info
Language Evaluation Comparison
Asperger’s Summary Comments
1. Fascinating, eccentric, memorable individuals
2. Data from Star Trek - Next Generation
3. Frustrating - so close to normal
4. Excellent potential
5. Biochemical aspect critical – bipolar onset in adolescence (50%)