Pervasive Developmental Disor... Health Article

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Diagnosis

The differential diagnosis of autistic spectrum disorders is complicated by several factors. One is the wide variation in normal rates of children's development. In addition, because some of the symptoms of autism are present in mental retardation, it can be difficult to determine which condition is present in a specific child, or whether both conditions are present. A definitive diagnosis of autism is rarely given to children below the age of three years. Delays or abnormal patterns in cognitive and social development can be more accurately assessed in children age three or four; children with AS or PDDNOS may not be diagnosed until age five or later. A third factor is the tangled history of differential diagnosis of childhood disorders. Autism was first described by a physician named Leo Kanner in 1943. For several decades after Kanner's initial observations, researchers assumed that there was an association or continuity between autism in children and schizophrenia in adults. In fact, the term autism was first used to describe the self-focused thinking that characterizes schizophrenia; it was only later that the word was applied to the severe impairment of social behaviors that is a major symptom of autistic disorder. It took years of further research to establish clear diagnostic distinctions between autism and schizophrenia. Furthermore, the early assumption of a connection between autism and schizophrenia led to the hypothesis that autism was caused by painful experiences in early childhood. It is now known that autism and the other PDDs are essentially neurological disturbances.

Medical or laboratory testing

There are no brain imaging studies or laboratory tests that can be performed to diagnose a pervasive developmental disorder. The examiner may, however, recommend a hearing test to rule out deafness as a possible cause of a child's failure to respond to the environment, or a brain scan to rule out other physical conditions.

Diagnostic interviews

A PDD may be diagnosed by a pediatrician, pediatric neurologist, psychologist, or specialist in child psychiatry. The diagnosis is usually based on a combination of the child's medical and developmental history and clinical interviews or observations of the child. Children who cannot talk can be evaluated for their patterns of nonverbal communication with familiar as well as unfamiliar people. The parents may be asked to describe the child's use of eye contact, gestures, facial expressions, and body language. A clinical psychologist can administer special tests designed to evaluate the child's problem-solving abilities without the use of language.

Diagnostic questionnaires and other tools

The examiner may use a diagnostic checklist or screener such as the Childhood Autism Rating Scale, or CARS, which was developed in 1993. In addition, the Autism Research Institute (ARI) distributes a Form E-2 questionnaire that can be completed by the parents of a child with a PDD and returned to ARI. Form E-2 is not a diagnostic instrument as such but a checklist that assists ARI in the compilation of a database of symptoms and behaviors associated with autistic spectrum disorders. Parents who complete the form will receive a brief report about their child. Researchers expect that the database will help to improve the accuracy of differential diagnosis as well as contribute to more effective treatments for children with PDDs.

Treatment and management

The treatment and management of children with PDDs will vary considerably according to the severity of the child's impairment and the specific areas of impairment.

Medications

As of 2001, there are no medications that can cure any of the PDDs, and no single medication that is recommended for the symptoms of all children with PDDs. In addition, there are few comparative medication studies of children with autistic spectrum disorders. The five sites (UCLA, University of Indiana, Ohio State, Yale, and the Kennedy-Krieger Institute) involved in the Research Units in Pediatric Psychopharmacology (RUPP) Program are currently conducting a study of respiridone in PDD children with behavioral problems. The RUPP sites are also testing medications approved for use in adults with self-injuring behaviors, anxiety, aggressive behavior, and obsessive-compulsive disorder on children with PDDs. This research is expected to improve the available treatments for children with these disorders.

Psychotherapy

The only PDD patients who benefit from individual psychotherapy are persons with AS or with HFA who are intelligent enough to have some insight into their condition. Typically they become depressed in adolescence or adult life when they recognize the nature and extent of their social disabiliities.

Educational considerations

Most children with AS and some children with high-functioning autism are educable. Many people with AS, in fact, successfully complete graduate or professional school. Only a small percentage of autistic children, however, complete enough schooling to be able to live independently as adults. Children with CDD must be placed in schools for the severely disabled.

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Author Info: Rebecca J. Frey PhD, Thomson Gale, Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part II, 2005
 
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