autism: a changing diagnosis

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Autism: A Changing Diagnosis

Terry Katz, PhD, JFK Partners, January 24, 2013

Goals

Understand autism diagnosis in a historical context

Identify changes in diagnostic criteria

Discuss relevance of the DSM (Diagnostic Statistical Manual)

Why is diagnosis (and the DSM) important?

Understanding outcomes

Explanation of behavior

Guides intervention

Highlights risks for other difficulties

The DSM

has influenced our general understanding of autism

guides private insurance, funding, and intervention

has become a topic of general interest in the community

Historical Trends:

Autism: Always Controversial? Definition

Etiology

Treatment

A Brief History of Autism

Leo Kanner, 1943

Autistic Disturbances of Affective Contact

11 Cases

Social Isolation

Unusual Language Development

Echolalia

Pronominal Reversals

Unusual Behaviors/

Insistence on Sameness

Early Onset

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Hans Asperger

“Autistic Psychopathy” in Childhood 4 boys ages 6 to 11 Marked social difficulties Pedantic “Little professors” Unusual interests Clumsy and awkward Other family members (especially fathers) had similar difficulties

Relatively good language and cognitive abilities Severe learning difficulties Not usually recognized until after age 3

Changes in definition Michael Rutter

Uta Frith

Lorna Wing

Triad of Impairments

Difficulties in Social Interaction

Narrow, Repetitive Patterns of Activities

Impairment in Communication and Imagination

No clear‐cut boundaries between typical autism, atypical autism, and other manifestations of the triad

Asperger’s Syndrome Comes of Age

Lorna Wing’s 1981 paper

Asperger‐specific assessment tools are developed (Gillberg, 1989)

Uta Frith translates Hans Asperger’s 1944 paper in 1994

World Health Organization and DSM‐IV recognizes Asperger’s Syndrome in 1994

Autism and the DSM

DSM‐1 (1952) 000‐x28 Schizophrenic reaction, childhood type

DSM‐II (1968)

295.8 Schizophrenia,

childhood type

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Change comes to the DSM

Challenges to the diagnostic process

Rosenhahn hoax

Kendall study

DSM‐II (1973, seventh edition)

Resulting changes

Use of checklists

Symptoms versus causes

Reliable diagnosis

Valid diagnosis?

Autism and the DSM‐III (1980)

299.0x Infantile Autism

Onset before 30 months

Pervasive lack of responsiveness to other people

Gross deficits in language development

Peculiar speech patterns

Bizarre responses to various aspects of the environment

Absence of delusions and hallucinations

299.9x Childhood Onset Pervasive Developmental Disorder

299.8x Atypical Pervasive Developmental Disorder

Autism and the DSM‐III‐R (1987)

Autistic Disorder

Qualitative impairment in reciprocal social interaction

Qualitative impairment in verbal and nonverbal communication and imaginative play

Markedly restricted repertoire of activities and interests

Onset during infancy or early childhood

Pervasive Developmental Disorder Not Otherwise Specified

Qualitative impairment in reciprocal social interaction

Qualitative impairment in verbal and nonverbal communication and imaginative play

Criteria not met for Autistic Disorder

May or may not exhibit markedly restricted repertoire of interests

Autism and the DSM‐IV (1994) and DSM‐IV‐TR (2000)

Pervasive Developmental Disorders

Autistic DisorderAsperger’s Disorder

PDD‐NOS Rett’s DisorderChildhood

Disintegrative Disorder

Autism and the DSM‐IV (1994) and DSM‐IV‐TR (2000)

299.00 Autistic Disorder

A. Qualitative impairment in social interaction (nonverbal behaviors, peer relations, shared enjoyment, reciprocity)

Qualitative impairments in communication (delay in language, conversational skills, stereotyped language, imaginative play)

Restricted repetitive and stereotyped patterns of behavior, interests, and activities (focused interests, inflexible routines, motor mannerisms, preoccupation with parts of objects)

B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3)symbolic or imaginative play.

C. The disturbance is not better accounted for by Rett’s Disorder or Childhood Disintegrative Disorder

Asperger’s Disorder and the DSM‐IV (1994) and DSM‐IV‐TR (2000)299.80 Asperger’s Disorder

A. Qualitative impairment in social interaction (nonverbal behaviors, peer relations, shared enjoyment, reciprocity)

B. Restricted repetitive and stereotyped patterns of behavior, interests, and activities (focused interests, inflexible routines, motor mannerisms, preoccupation with parts of objects)

C. The disturbance causes clinically significant impairment in social, occupation, or other important areas of functioning

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

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PDD‐NOS and the DSM‐IV (1994) and DSM‐IV‐TR (2000)

299.80 Pervasive Developmental Disorder Not Otherwise Specified (Including Atypical Autism)

1994‐‐This category should be used when there is a severe and pervasive impairment in the development of reciprocal social interaction or verbal and nonverbal communication skills, or when stereotyped behavior, interests, and activities are present.

2000‐‐This category should be used when there is a severe and pervasive impairment in the development of reciprocal social interaction associated with impairment in either verbal or nonverbal communication skills or with the presence of stereotyped behavior, interests, and activities.

DSM‐5 Timeline

1999‐2008 Formation of

Work Group and Task Force

Members (APA, WHO, NIH)

2008‐2010

Formulation of proposed draft

criteria

2010‐2012 Data collection for

DSM‐5 field trials

Spring 2012

Revised draft diagnostic criteria are posted on

www.dsm5.organd open to

public feedback

December 1, 2012

Final approval of revisions by APA board of trustees

May 18‐22, 2013

Release of DSM‐5 at APA annual

meeting

DSM‐5 Committee on Neurodevelopmental Disorders

Susan Swedo, M.D. , pediatrician and chair Gillian Baird, M.D., developmental pediatrician Edwin Cook Jr, M.D., child psychiatrist Francesca Happe, Ph.D., developmental psychologist James Harris, M.D., child psychiatrist Walter Kaufmann, M.D., neurologist Bryan King, M.D., child psychiatrist Catherine Lord, Ph.D., clinical psychologist Joseph Piven, M.D., child psychiatrist Sally Rogers, Ph.D., developmental psychologist Sarah Spence, M.D., child neurologist Rosemary Tannock, Ph.D., pediatric neuropsychologist Amy Wetherby, Ph.D., speech‐language pathologist Harry Wright, M.D., child psychiatrist

Fundamental Changes

• One unifying diagnosis

• No distinct subtypes

Autism

Asperger’s Disorder Autism Spectrum Disorder

PDD‐NOS

CDD

Fundamental Changes

Two versus Three Symptom Domains

Social Impairment

Social Communication Impairment

Communication deficits

Repetitive/Restricted Repetitive/Restricted Behaviors

Behaviors

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Scientific Rationale

Distinctions between Autism, Asperger’s Disorder, and PDD‐NOS

Question about importance of early language

Simons Simplex Collection

Access to services

2 versus 3 symptom domains

Social interaction skills and communication skills are highly correlated in individuals with autism spectrum disorders.

When they are not, differences are primarily accounted for by language level and intelligence

Autism Spectrum Disorder in the DSM‐5Must meet criteria A, B, C, and D:

A. Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following:

1. Deficits in social‐emotional reciprocity; ranging from abnormal social approach and failure of normal back and forth conversation through reduced sharing of interests, emotions, and affect and response to total lack of initiation of social interaction.

2. Deficits in nonverbal communicative behaviors used for social interaction; ranging from poorly integrated verbal and nonverbal communication, through abnormalities in eye contact and body‐language, or deficits in understanding and use of nonverbal communication, to total lack of facial expression or gestures.

3. Deficits in developing and maintaining relationships, appropriate to developmental level (beyond those with caregivers); ranging from difficulties adjusting behavior to suit different social contexts through difficulties in sharing imaginative play and in making friends to an apparent absence of interest in people.

Autism Spectrum Disorder in the DSM‐5Must meet criteria A, B, C, and D:

B. Restricted, repetitive patterns of behavior, interests, or activities as manifested by at least two of the following:

1. Stereotyped or repetitive speech, motor movements, or use of objects; (such as simple motor stereotypies, echolalia, repetitive use of objects, or idiosyncratic phrases).

2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior, or excessive resistance to change; (such as motoric rituals, insistence on same route or food, repetitive questioning or extreme distress at small changes).

3. Highly restricted, fixated interests that are abnormal in intensity or focus; (such as strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).

4. Hyper‐ or hypo‐reactivity to sensory input or unusual interest in sensory aspects of environment; (such as apparent indifference to pain/heat/cold, adverse response to specific sounds or textures, excessive smelling or touching of objects, fascination with lights or spinning objects).

Autism Spectrum Disorder in the DSM‐5

Must meet criteria A, B, C, and D:

C. Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities)

D. Symptoms together limit and impair everyday functioning.

Autism Spectrum Disorder in the DSM‐5Severity Level for ASD Social Communication Restricted Interests and

Repetitive Behaviors

LEVEL 1: Requiring support Without supports in place, deficits in social communication cause noticeable impairments. Has difficulty initiating social interactions and demonstrates clear examples of atypical or unsuccessful responses to social overtures of others. May appear to have decreased interest in social interactions.

Rituals and repetitive behaviors (RRB’s) cause significant interference with functioning in one or more contexts. Resists attempts by others to interrupt RRB’s or be redirected from fixated interest.



LEVEL 2: Requiringsubstantial support

Marked deficits in verbal and nonverbal social communication skills; social impairments apparent even with supports in place; limited initiation of social interactions and reduced or abnormal response to social overtures from others.

RRBs and/or preoccupations or fixated interests appear frequently enough to be obvious to the casual observer and interfere with functioning in a variety of contexts.Distress or frustration is apparent when RRB’s are interrupted; difficulty to redirect from fixated interest.

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LEVEL 3: Requiring very substantial support

Severe deficits in verbal and nonverbal social communication skills case severe impairments in functioning; very limited initiation of social interactions and minimal responses to social overtures to others.

Preoccupations, fixated rituals and/or repetitive behaviors markedly interfere with functioning in all spheres. Marked distress when rituals or routines are interrupted; very difficult to redirect from fixated interest or returns to it quickly.

Autism Spectrum Disorder in the DSM‐5*Dimensional Ratings Social Communication Restricted Interests and


SUBCLINICAL SYMPTOMS Some symptoms in this or both domains; no significant impairment

Unusual or excessive, but no interference

NORMAL VARIATION May be awkward or isolated but within normal limits

Within normal limits for developmental level and no interference

*From: Lord, C., Where is the diagnosis of Autism Spectrum Disorders (ASD) going? AUCD Webinar, March 8, 2011

DSM‐5 Specifiers and Modifiers* Specifiers for Etiology (if known): ASD with Rett Syndrome ASD with Fragile X ASD with 22q deletion

Modifiers of Other Important Factors: ASD with a seizure disorder ASD with sleep apnea ASD with a language disorder or an intellectual disability

Early history is also specified: Age of perceived onset Pattern of onset (loss? Of what skills?) E.g., ASD with onset before 18 months and loss of words and social skills

*Adapted from: Lord, C., Where is the diagnosis of Autism Spectrum Disorders (ASD) going? AUCD Webinar, March 8, 2011

Strong Public Reaction

Social Communication Disorder (SCD) in the DSM‐5A. Social Communication Disorder (SCD) is

Impairment of pragmatics

Diagnosed based on difficulty in the social uses of verbal and nonverbal communication in naturalistic contexts

Which affects the development of social relationships and discourse comprehension

Cannot be explained by low abilities in the domains of word structure and grammar or general cognitive ability.

B. The low social communication abilities result in functional limitations in effective communication, social participation, academic achievement, or occupational performance alone or in any combination.

C. Rule out Autism Spectrum disorder (ASD). Autism Spectrum Disorder by definition encompasses pragmatic communication problems, but also includes restricted, repetitive patterns of behavior, interest or activities as part of the autism spectrum. Therefore, ASD needs to be ruled out for SCD to be diagnosed.

D. Symptoms must be present in early childhood

(but may not become fully manifest until social demands

exceed limited capacities).

A New Definition of Autism Could Exclude Many Now Diagnosed, Expert Says

McPartland, J., Reichow, B., & Volkmar, F. (2012). Sensitivity and Specificity of Proposed DSM‐5 Diagnostic Criteria for Autism Spectrum Disorder Journal of the American Academy of Child & Adolescent Psychiatry, 51 (4), 368‐383 DOI: 10.1016/j.jaac.2012.01.007

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DSM‐IV versus DSM‐5 diagnoses

Huerta, M., Bishop, S.L., Duncan, A., Hus, V., Lord, C. Application of DSM‐5 Criteria for Autism Spectrum Disorder to Three Samples of Children With DSM‐IV Diagnoses of Pervasive Developmental Disorders. Am J Psychiatry 2012;169:1056‐1064. 10.1176/appi.ajp.2012.12020276

DSM‐5 Field Trials

Reliability of criteria?

Yes

Change in prevalence?

Very small; children who did not receive a diagnosis of an Autism Spectrum Disorder received a diagnosis of Social Communication Disorder.

Narrow, W.E., Clarke, D.E., Kuramoto, S.J., Kraemer, H.C., David J. Kupfer, D.J., Greiner, L., Regier, D.A. DSM‐5 Field Trials in the United States and Canada, Part III: Development and Reliability Testing of a Cross‐Cutting Symptom Assessment for DSM‐5 Am J Psychiatry 2012;:. 10.1176/appi.ajp.2012.12071000.

Remaining Concerns

How will the change in the DSM affect the diagnoses of very young children, adults, and individuals from diverse ethnic backgrounds?

What about the impact on community settings versus academic centers?

Will individuals with Asperger Syndrome or PDD‐NOS lose services because of change in the DSM?

Will people who prefer the term Asperger Syndrome still use be able to use this term?

Will the range of skills and abilities of individuals with ASD continue to be acknowledged and respected?

autism: a changing diagnosis

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