Asperger disorder

Elham Shirazi M.D.
Board of General Psychiatry
Board of Child & Adolescent Psychiatry
Pervasive Developmental Disorders:
 Autistic disorder
 Asperger’s disorder
 Childhood Disintegrative Disorder-CDD
 Rett’s disorder
 PDD-NOS
Robins & Guze’s criteria to establish the reliability & validity of a
psychiatric disorder (most accepted approach) :
Clear differentiation & delimination from other clinically similar disorders by:

Consistent clinical description
(phenomenology)

Consistent findings in physiologic/neuropsychologic studies
(biological markers)

Consistent clinical course, prognose, treatment response in longterm follow-up studies

Increased prevalence in relatives in family studies
(familial clustering)
Pervasive Developmental Disorders
 Autistic disorder
 Asperger’s disorder
 Childhood Disintegrative Disorder-CDD
 Rett’s disorder
 PDD NOS
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Phenomenology
Biological markers
Course, prognose, & treatment response
Familial clustering
Rationale:
 Distinctions among disorders were inconsistent over time
 Variable across sites
 Often associated with severity, language level, or IQ, rather than
features of the disorder
Decision is based on:
 Expert consultations
 Workshop discussions
 Data from CPEA & STAART, University of Michigan
New name for the category:
Autism Spectrum Disorder- ASD
 ASD is validly & reliably differentiated from other disorders
Adapted to clinical presentation by :
 Clinical specifiers (e.g., severity, verbal ability, IQ,...)
 Associated features (e.g., known medical disorder or genetic condition,...)
 Providing examples for subdomains increases sensitivity
Autistic Disorder (DSM-IV)
A. Impairments in social interaction (2 of the following):
 Impairment in nonverbal behaviors
 Failure to develop peer relationships
 Lack of sharing enjoyment, interests, or achievements with other people
 Lack of social or emotional reciprocity
B. Impairments in communication (1 of the following):
 Delay or lack of the development of spoken language without any
compensation through alternative modes
(specifier)
 Impairment in initiating or sustaining a conversation
(social-emotional reciprocity)
 Stereotyped & repetitive use of language
(stereotypies)
 Lack of make-believe play or social-imitative play
(relationship failure)
C. Restricted, repetitive & stereotyped behavior, interests, & activities
(1 of the following):
 Preoccupation with stereotyped & restricted interests that are abnormal
in intensity & focus
 Compulsive adherence to routines or rituals
 Stereotyped & repetitive motor mannerism
 Preoccupation with parts of objects
D. Delays or abnormal functioning prior to age 3
Three domains became 2:
 Deficits in social interaction & communication are inseparable
 Delays in language are neither sensitive nor specific in autistic
disorder
 It influences the clinical symptoms rather than the diagnosis
 Requiring both criteria to be fulfilled improves specificity
 Data analyses were conducted to determine most sensitive & specific
cluster of symptoms:
 Requiring all symptoms for social/communication criteria
 Requiring 2 symptoms for repetitive behavior & fixated interests,
improves specificity & stability of diagnosis
 Symptoms must be presented in early childhood
 ASD is a neurodevelopmental disorder & must be present from
infancy or early childhood
 But may not become fully manifested until social demands exceed
limited capacities
(because of minimal social demands & support from parents in early years)
Autistic Spectrum Disorder-ASD (DSM-5):
 A. Persistent deficits in social communication & interactions
(all of the following), currently or by history:
 Deficits in nonverbal communication used for social interaction
 Failure to develop, maintain, & understand relationships
 Deficit in social-emotional reciprocity
 Nonverbal communication:
Integrated verbal & nonverbal communication, body language, gestures
(understanding & use), eye contact, facial expression
 Relationships:
Adjusting behavior to social contexts, sharing imaginative play, making
friends, no interest in peers
 Reciprocity:
Initiate or respond to social interaction, back-and-forth conversation,
sharing of interests & emotions (showing, bringing, or pointing out
objects of interest)
 B. Restrictive, repetitive patterns of behavior, interests,
or activities (2 of the following):
 Resticted fixated interests, abnormal in intensity or focus
 Insistence on sameness, adherence to routines, or ritualized patterns
of verbal or nonverbal behavior
 Stereotyped or repetitive motor movements, use of objects, or speech
 Hyper/hyporeactivity to sensory input or interest in sensory aspects
of the environment
 Interests:
Attachment to unusual objects, circumscribed or perseverative interests
 Sameness, routines, rituals:
Distress in changes, difficulties with transitions, rigid thinking patterns,
greeting rituals, same route or same food every day
 Stereotyped:
Lining up or flipping objects, echolalia, idiosyncratic phrases, hand or
finger flapping or twisting, body movements
 Reactivity to sensory inputs:
Indifference to pain/temperature, adverse response to sounds or
textures, smelling or touching of objects, visual fascination with lights
or movements
 C. Symptoms present in early developmental period
 D. Significant impairment in functioning
 E. Not better explained by intellectual disability, global
developmental delay
 *Specify :
 With or without accompanying intellectual impairment
 With or without accompanying language impairment
 Associated with a known medical or genetic condition or
environmental factor
 Associated with another neurodevelopmental, mental, or behavior
disorder
 With catatonia
 *Specify current severity:
Based on:
 Social communication
 Restricted, repetitive patterns of behavior
 Level 1.
Requiring support
 Level 2.
Requiring substantial support
 Level 3.
Requiring very substantial support
 Level 1 : Requiring support
 Able to speak in full sentences & engages in communication but
to-&-fro conversation with others fails
 Attempts to make friends are odd & typically unsuccessful
 Difficulty switching between activities
 Problems of organization & planning hamper independence
 Level 2 : Requiring substantial support
 Marked deficit in communication
 Social impairments even with support
 Speaks simple sentences
 Interaction limited to narrow special interests
 Markedly odd nonverbal communication
 Difficulty coping with change
 Frequent restricted/repetitive behaviors obvious to casual observer
 Distress/difficulty changing action
 Level 3 : Requiring very substantial support
 Severe deficits in communication
 Severe impairment in functioning
 Few words of intelligible speech
 Rarely initiates interaction
 Unusual approaches to meet needs
 Responds to only very direct social approaches
 Extreme difficulty coping with changes
 Great distress/difficulty changing action
 Specify severity:
e.g., requiring very substantial support for deficits in social
communication & requiring substantial support for restricted, repetitive
behaviors
 Specify if:
 e.g., ASD without accompanying intellectual impairment
 e.g., ASD with accompanying language impairment - no intelligible speech
 e.g., ASD associated with Rett syndrome
 e.g., ASD associated with avoidant-restrictive food intake disorder
 e.g., ASD with catatonia
 Severity can vary by context and fluctuate over time
 Intellectual impairment:
separate estimates of verbal & nonverbal skill are necessary
 Language impairment:
e.g., no intelligible speech, single words only, phrase speech,..
 Without language impairment:
e.g., speaks in full sentences, has fluent speech,..
 Receptive & expressive language should be considered separately
 Genetic disorder:
e.g., Rett syndrome, fragile X syndrome, Down syndrome,..
 Medical disorder:
e.g., epilepsy,..
 Environmental factor:
e.g., valporate, fetal alcohol syndrome, very low birth weight,..
 Neurodevelopmental, mental, or behavioral conditions:
e.g., ADHD, coordination disorder, ODD, impulse control disorder, CD,
MDD, BD, Tourette’s disorder, feeding disorders, sleep disorders,
elimination disorders,..
 ASD is frequently associated with intellectual impairment & structural
language disorders which should be noted under the relevant specifiers
 ASD: 70% have 1 comorbid mental disorder
 ASD: 40% have 2 or more comorbid mental disorders
 Can be comorbid with ADHD
Asperger’s Disorder
 Impairment in social interaction
 Restricted, repetitive, & stereotyped behavior, interests, & activities
 No delay in language development
 No delay in cognitive development
(self-help skills, adaptive behavior, curiosity about the environment)
2. Impairments in communication (1 of the following):
 Delay or lack of the development of language
(without any compensation through alternative modes)
 Stereotyped & repetitive use of language
 Impairment in initiating or sustaining a conversation
 Lack of make-believe play or imitative play
Asperger’s Disorder
Rational:
 Was included in DSM-IV to encourage research
(more than 500 published articles on Asperger syndrome)
 DSM-IV Asperger disorder do not work in clinic
(Mayes, 2001; Miller, 2000; Leekam, 2000)
 Early language details are hard to establish in retrospect
(average age of first diagnosis is 7-11 years)
(Mandel, 2005; Howlin, 1999)
 Language delay is not a necessary criterion for autistic disorder
 The communication criteria “impairment in initiating or sustaining a
conversation” is met by even very able individuals fitting the
Asperger picture
(Miller, 2000; Bennett, 2008; Williams, 2008)
 Survey of 466 professionals reporting on 348 relevant cases showed that
44% of children given Asperger, or PDD-NOS label, fulfilled criteria for
Autistic Disorder
(agreement between clinician’s label & DSM-IV criteria, Kappa 0.31)
(Williams, 2008)
Mixed evidence in neuro-cognitive profile in Asperger vs HFA:
 Worse motor functioning
(for: Klin, 1995; Rinehart, 2006/ / against: Jansiewicz, 2006; Manjiviona, 1995;
Miller, 2000; Thede, 2007)
 Performance IQ< verbal IQ
(for: Klin, 1995 // against: Barnhill, 2000; Gilchrist, 2001; Ozonoff,
2000; Spek, 2008)
 Better theory of mind
(for: Ozonoff, 2000// against: Dahlgren, 1996; Barbaro, 2007)
 Better executive function
(for: Rinehart, 2006//against: Miller, 2000; Thede, 2007; Verte, 2006)
 Language impairment at 6-8 years have greater prognostic value than
early language milestones
(Bennett, 2008; Szatmari, 2009)
 Children with autism who have fluent language have similar course
& outcome to children with Asperger disorder
(Macintosh, 2004; Eisenmajer, 1998; Ozonoff, 2000; Howlin, 2003)
 Note the risk for circularity for group differences, since early language
development is predictive of later language abilities
(Paul, 1984; Rutter, 1967; Rutter, 1992)
 No clear evidence of distinct etiology
 Treatment needs & responses
No study has demonstrated the need for different treatments or
different responses to the same treatment
 Autism & Asperger syndrome co-occur in the same families
(Bolton, 1994; Chakrabarti, 2001; lauritsen, 2005; Ghaziuddin, 2005; Volkmar,
1998)
 Asperger disorder is not substantially different from HFA
(Witwer, 2008)
 Anyone given the Asperger disorder diagnosis can meet criteria for
ASD
 Language impairment/delay is not a necessary criterion for the
diagnosis of ASD
 Asperger disorder is part of the autism spectrum with good formal
language skills & good verbal IQ
(Witwer, 2008)
 Asperger disorder is distinct from other subgroups of the autism
spectrum
(Matson, 2008; Klin, 2005)
Childhood Disintegrative Disorder-CDD
1. At least 2 years of normal development
2. Loss of skills thereafter (2 of the following):
 Motor skills
 Bowel or bladder control
 Language
 Social skills
 Play
3. Abnormalities in (2 of the following):
 Impairment in social interaction
 Impairment in communication
 Restricted, repetitive & stereotyped behavior, interests, & activities
Childhood Disintegrative Disorder-CDD
Rationale:
 Was included in DSM-IV to encourage research
 A rare condition
 Most recent reports: 2/100 000
(Fombonne, 2009)
 Data on CDD in the literature since 1994 are extremely limited
(few new cases, n< 10)
 There are still questions regarding the validity of CDD
 Is the 2-10 age range valid?
 How is it separable from autism with a regressive coarse?
 The distinction is much more difficult if the regression occurs between
ages 2-3
(Malhotra, 2002; Volkmar, 1989)
 Proof for typical development before regression is difficult
(Volkmar, 1995)
 Data show that regression is not a dicotomous phenomenon
(Ozonoff, 2008)
 Many autistic children with any developmental condition undergo a
loss of skills
(Ozonoff, 2005)
 In several cases symptoms abate & developmental skills regain after
treatment
(Mordekar, 2009)
 CDD is not separate enough from autism to sustain its own diagnosis
 Children meeting criteria for CDD can fit well within criteria for ASD
 Studies comparing CDD with autism with regression have not found
differences in a variety of outcome measures
(Kurita, 2005)
 The proposed dimension in ASD will describe those with regression
(allowing continued research into this phenomenon)
Rett’s Disorder
 Normal head circumference at birth
 Normal prenatal & perinatal & first 6 months development
Between 6-48 months:
 Deceleration of head growth
 Psychomotor retardation
 Loss of purposeful hand movements
 Development of stereotyped hand movements
 Poorly coordinated gait or trunk movements
 Delays & impairment of language
 Loss of social engagement
Rett’s Disorder
 Often have autistic symptoms for a brief period during early
childhood
 Like other disorders in DSM, ASD is defined by specific sets of
behaviors, & not by etiology
 Inclusion of a specific etiologic entity is inappropriate
 Where etiology is known, clinicians can utilize the specifier: “
Associated with Known Medical Disorder or Genetic Condition”