Autism Spectrum Disorders: (Pervasive Developmental Disorders)

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Chapter 7 Autism Spectrum Disorders

(Pervasive Developmental Disorders)

PATHOPHYSIOLOGY

Autism spectrum disorders (ASDs), also known as pervasive developmental disorders, comprise a group of neuropsychiatric disabilities involving varying degrees of restricted, repetitive, and stereotyped patterns of behavior as well as impairment in communication skills and social interaction. ASD diagnoses range from the milder Asperger’s disorder to the more severe autistic disorder. The Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revision (DSM-IV-TR) outlines specific observable behavioral components related to social interactions, communication, and repetitive and stereotypical behaviors and other indicators, presented for Asperger’s disorder in Box 7-1 and autistic disorder in Box 7-2. Intact language skills distinguish Asperger’s disorder from autism. Rare forms of ASD include Rett syndrome (Box 7-3) and childhood disintegrative disorder (CDD) (Box 7-4). In both disorders there is normal development followed by a profound regression of cognitive abilities. Rett syndrome occurs only in girls and is likely genetically based. The DSM criteria for pervasive developmental disorder, not otherwise specified, are presented in Box 7-5.

Box 7-1 Diagnostic Criteria for Asperger’s Disorder

A. Qualitative impairment in social interaction, as manifested by at least two of the following:

(1) Marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
(2) Failure to develop peer relationships appropriate to developmental level
(3) A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people)
(4) Lack of social or emotional reciprocity

B. Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:

(1) Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
(2) Apparently inflexible adherence to specific, nonfunctional routines or rituals
(3) Stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
(4) Persistent preoccupation with parts of objects

C. The disturbance causes clinically significant impairments in social, occupational, 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 social interaction), and curiosity about the environment in childhood

F. Criteria are not met for another specific pervasive developmental disorder of schizophrenia

From American Psychiatric Association: Diagnostic and statistical manual of mental disorders, ed 4, text revision (DSM-IV-TR), Washington, DC, 2000, The Association.

Box 7-2 Diagnostic Criteria for Autistic Disorder

A. A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3)

(1) Qualitative impairment in social interaction, as manifested by at least two of the following:
(a) Marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body posture, and gestures to regulate social interaction
(b) Failure to develop peer relationships appropriate to developmental level
(c) A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people, (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people)
(d) Lack of social or emotional reciprocity (Note: The DSM description gives the following as examples: not actively participating in simple social play or games, preferring solitary activities, or involving others in activities only as tools or “mechanical” aids)
(2) Qualitative impairments in communication as manifested by at least one of the following:
(a) Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)
(b) In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
(c) Stereotyped and repetitive use of language or idiosyncratic language
(d) Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level
(3) Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least two of the following:
(a) Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
(b) Apparently inflexible adherence to specific, nonfunctional routines or rituals
(c) Stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
(d) Persistent preoccupation with parts of objects

B. Delays or abnormal functioning in at least one of the following areas, with onset before age 3 years:

(1) Social interaction
(2) Language as used in social communication
(3) Symbolic or imaginative play

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

From American Psychiatric Association: Diagnostic and statistical manual of mental disorders, ed 4, text revision (DSM-IV-TR), Washington, DC, 2000, The Association.

Box 7-3 Diagnostic Criteria for Rett Syndrome (Females Only)

A. All of the following:

(1) Apparently normal prenatal and postnatal development
(2) Apparently normal psychomotor development
(3) Normal head circumference at birth

B. Onset of all of the following after a period of normal development:

(1) Deceleration of head growth between ages 5 and 48 months
(2) Loss of previously acquired purposeful hand skills between ages 5 and 30 months with subsequent development of stereotyped hand movements (e.g., hand wringing or hand washing)
(3) Loss of social engagement early in the course (although social interaction often develops later)
(4) Appearance of poorly coordinated gait or trunk movements
(5) Severely impaired expressive and receptive language development with severe pyschomotor retardation

From American Psychiatric Association: Diagnostic and statistical manual of mental disorders, ed 4, text revision (DSM-IV-TR), Washington, DC, 2000, The Association.

Box 7-4 Diagnostic Criteria for Childhood Disintegrative Disorder*

A. Apparently normal development for at least the first 2 years after birth as manifested by the presence of age-appropriate verbal and nonverbal communication, social relationships, play, and adaptive behavior

B. Clinically significant loss of previously acquired skills (before age 10 years in at least two of the following areas):

(1) Expressive or receptive language
(2) Social skills or adaptive behavior
(3) Bowel or bladder control
(4) Play
(5) Motor skills

C. Abnormalities of functioning in at least two of the following areas:

(1) Qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity)
(2) Qualitative impairments in communication (e.g., delay or lack of the development of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language, lack of verbal make-believe play)
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