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Characteristics and Symptoms in Patients with Autism



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Am Fam Physician. 1998 Feb 15;57(4):809-810.

In the United States, autism may affect up to 115,000 children between one and 15 years of age, but its prevalence in adults is uncertain. Classic autism is one of a group of development disorders in which a wide variety of behaviors and activities are demonstrated that collectively are known as pervasive development disorder (see the accompanying table on criteria for autistic disorder). Certain biologic conditions and/or genetic factors appear to be associated with the development of autism, but no specific cause has been identified. Multiple members of a family may be affected, but currently no common genetic defect is observable in affected children. Rapin reviewed the many manifestations of autism, principal symptoms, therapies and prognosis.

Criteria for Autistic Disorder*

A total of six or more manifestations from 1, 2 and 3 below:

1. Qualitative impairment of social interaction (at least two manifestations)

a. Marked impairment in the use of multiple types of nonverbal behavior such as eye-to-eye gaze, facial expression, body postures and gestures to regulate social interactions;

b. Failure to develop peer relationships appropriate to development level;

c. Lack of spontaneous seeking to share enjoyment, interests or achievements with other people (e.g., by lack of showing, bringing or pointing out objects of interest); and

d. Lack of social or emotional reciprocity.

2. Qualitative impairment of communication (at least one manifestation)

a. Delay in, or lack of, development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gestures 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; and

d. Lack of varied, spontaneous make-believe play or social imitative play appropriate to development level.

3. Restrictive and stereotyped patterns of behavior, interests and activities (at least one behavior manifestation)

a. Encompassing preoccupation with one or more restricted, repetitive and stereotyped 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); and

d. Persistent preoccupation with parts of objects.

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

Social interaction;

Language as used in social communication; and

Symbolic or imaginative play.

A determination that Rett's disorder or childhood disintegrative disorder does not account better for the observed symptoms.


*—Adapted from DSM-IV.

Reprinted with permission from Rapin I. Autism. N Engl J Med 1997;337:97–104.

Criteria for Autistic Disorder*

View Table

Criteria for Autistic Disorder*

A total of six or more manifestations from 1, 2 and 3 below:

1. Qualitative impairment of social interaction (at least two manifestations)

a. Marked impairment in the use of multiple types of nonverbal behavior such as eye-to-eye gaze, facial expression, body postures and gestures to regulate social interactions;

b. Failure to develop peer relationships appropriate to development level;

c. Lack of spontaneous seeking to share enjoyment, interests or achievements with other people (e.g., by lack of showing, bringing or pointing out objects of interest); and

d. Lack of social or emotional reciprocity.

2. Qualitative impairment of communication (at least one manifestation)

a. Delay in, or lack of, development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gestures 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; and

d. Lack of varied, spontaneous make-believe play or social imitative play appropriate to development level.

3. Restrictive and stereotyped patterns of behavior, interests and activities (at least one behavior manifestation)

a. Encompassing preoccupation with one or more restricted, repetitive and stereotyped 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); and

d. Persistent preoccupation with parts of objects.

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

Social interaction;

Language as used in social communication; and

Symbolic or imaginative play.

A determination that Rett's disorder or childhood disintegrative disorder does not account better for the observed symptoms.


*—Adapted from DSM-IV.

Reprinted with permission from Rapin I. Autism. N Engl J Med 1997;337:97–104.

Autism can first appear as impaired attachment in infants, but this behavior generally occurs in toddlers, typically in boys from 18 to 30 months of age. They may demonstrate affection but without any joy or reciprocity. In these children, parents also report delayed speech, lack of normal interest in others or in childhood activities, or a regression of early speech and sociability.

Communication difficulties are the most serious problem. Patients with verbal auditory agnosia (“word deafness”) understand little or no language (see accompanying table on communication deficits in autism). In addition, children with autism do not play normally. While they may appear to have long attention spans when engaged in solitary activities, they cannot focus on activities performed jointly with others. Parents may describe them as independent rather than aloof and may even be proud of their self-sufficiency. Children with autism have frequent temper tantrums, require less sleep and awaken frequently during the night. Approximately 75 percent of children with autism are mentally retarded, but a small minority excel at music, mathematics or visual spatial tasks.

Communication Deficits in Autism

Aspect of language Deficits

Phonology (speech sounds)

Impaired reception and expression in children with the mixed receptive-expressive syndrome and, especially, with severe verbal auditory agnosia (word deafness) in which phonologic decoding may be so compromised as to preclude speech comprehension and verbal expression

Prosody (rhythm and melody of speech)

In children with speech: singsong or rising intonation, high-pitched voice or monotonous, “robotic” speech

Syntax (grammar and word order)

Impaired reception and expression in children with the mixed receptive-expressive syndrome and with less severe verbal auditory agnosia

Semantics (vocabulary and meaning of language)

Impaired reception and expression in all children with autism—e.g., impaired comprehension of questions, open-ended questions and nonliteral language such as irony, sarcasm and jokes; word-retrieval problems and unusual, pedantic word choices; echolalia; difficulty formulating coherent discourse; narrow range of topics

Pragmatics (communicative and conversational use of language)

Impaired reception and expression in all persons with autism—e.g., impaired interpretation of tone of voice, body posture and facial expression; gaze avoidance; failure to answer; speaking to no one in particular; failure to initiate, pursue or terminate conversations; difficulty with taking turns; poor maintenance of topic; perseveration and ceaseless questioning


Reprinted with permission from Rapin I. Autism. N Engl J Med 1997;337:97–104.

Communication Deficits in Autism

View Table

Communication Deficits in Autism

Aspect of language Deficits

Phonology (speech sounds)

Impaired reception and expression in children with the mixed receptive-expressive syndrome and, especially, with severe verbal auditory agnosia (word deafness) in which phonologic decoding may be so compromised as to preclude speech comprehension and verbal expression

Prosody (rhythm and melody of speech)

In children with speech: singsong or rising intonation, high-pitched voice or monotonous, “robotic” speech

Syntax (grammar and word order)

Impaired reception and expression in children with the mixed receptive-expressive syndrome and with less severe verbal auditory agnosia

Semantics (vocabulary and meaning of language)

Impaired reception and expression in all children with autism—e.g., impaired comprehension of questions, open-ended questions and nonliteral language such as irony, sarcasm and jokes; word-retrieval problems and unusual, pedantic word choices; echolalia; difficulty formulating coherent discourse; narrow range of topics

Pragmatics (communicative and conversational use of language)

Impaired reception and expression in all persons with autism—e.g., impaired interpretation of tone of voice, body posture and facial expression; gaze avoidance; failure to answer; speaking to no one in particular; failure to initiate, pursue or terminate conversations; difficulty with taking turns; poor maintenance of topic; perseveration and ceaseless questioning


Reprinted with permission from Rapin I. Autism. N Engl J Med 1997;337:97–104.

Neurologic problems associated with autism include joint laxity, hypotonia, clumsiness, apraxia, toe walking, motor stereotypies (such as hand flapping, pacing, spinning, running in circles) and oral stereotypies (such as humming). Self-destructive behavior such as biting and head banging may be the result of increased endorphin levels. These children may be either hypersensitive or oblivious to sounds, tactile stimuli, pain and tastes. As adolescents, they frequently demonstrate detachment, depression and unprovoked aggression.

The functional status of persons with autism varies widely. They may not function well enough to perform activities of daily living or, alternatively, they may successfully complete college and function independently. In well-functioning adults, stereotypies, such as finger rubbing, may persist unnoticed. However, by the time a child with autism reaches adulthood, he or she has likely had at least two seizures. In addition, autism in adults may be confused with other diagnoses such as obsessive-compulsive disorder, schizoid personality, simple schizophrenia, affective disorder, mental retardation or brain damage.

Mainstream treatment consists of early, intensive education for parents, focusing on behavior and communication disorders. A highly structured environment with intensive individual instruction should be encouraged. Laboratory, metabolic or genetic tests and diagnostic imaging provide little useful information, although an electroencephalogram (EEG) is indicated in children in whom epilepsy is suspected. No specific pharmacologic therapies are available, but many patients do not require medication. When needed, medication is generally used for a particular manifestation or constellation of symptoms. Families may benefit from ongoing counseling and support, and specific instructions for dealing with tantrums and destructive behavior. Parents should be cautioned about costly and often questionable dietary, medical and other unconventional therapies.

Rapin I. Autism. N Engl J Med. 1997;337:97–104.



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