DIAGNOSIS
DIFFERENTIAL DIAGNOSIS
• Other pervasive developmental disorders
• Rett’s syndrome: occurs in females, exhibits head growth deceleration, loss of previously acquired motor skills, and incoordination
• Childhood disintegration disorder: development normal until age 2 yr, followed by regression
• Childhood-onset schizophrenia: follows period of normal development
• Asperger’s syndrome: lacks the language developmental abnormalities of autism
• Isolated symptoms of autism: when occurring in isolation, defined as disorders (e.g., selective mutism, expressive language disorder, mixed receptive expressive language disorder, or stereotypic movement disorder)
WORKUP
A two-part process:
1. Establish the diagnosis.
2. Determine if there are any associated medical conditions.
LABORATORY TESTS
• PKU screen (usually done at birth in the U.S.)
• Chromosome analysis to rule out fragile X in both boys and girls (carrier girls may exhibit mild symptoms.)
DIFFERENTIAL DIAGNOSIS
• Other pervasive developmental disorders
• Rett’s syndrome: occurs in females, exhibits head growth deceleration, loss of previously acquired motor skills, and incoordination
• Childhood disintegration disorder: development normal until age 2 yr, followed by regression
• Childhood-onset schizophrenia: follows period of normal development
• Asperger’s syndrome: lacks the language developmental abnormalities of autism
• Isolated symptoms of autism: when occurring in isolation, defined as disorders (e.g., selective mutism, expressive language disorder, mixed receptive expressive language disorder, or stereotypic movement disorder)
WORKUP
A two-part process:
1. Establish the diagnosis.
2. Determine if there are any associated medical conditions.
LABORATORY TESTS
• PKU screen (usually done at birth in the U.S.)
• Chromosome analysis to rule out fragile X in both boys and girls (carrier girls may exhibit mild symptoms.)
Autistic disorder
BASIC INFORMATION
DEFINITION
The term autistic disorder refers to impairment in the development of language, communication, and reciprocal social interaction along with a restricted behavioral repertoire, with onset before age 3 yr.
SYNONYMS
Autism
Early infantile autism
Childhood autism
Kanner’s autism
EPIDEMIOLOGY & DEMOGRAPHICS
PREVALENCE (IN U.S.): 2 to 5 cases/10,000 persons (10 to 15 cases/10,000 persons when broader definitions are used)
PREDOMINANT SEX: Male:female ratio of 3-4:1
PREDOMINANT AGE: Lifelong illness
PEAK INCIDENCE: Before age 3 yr
GENETICS: Unknown genetic component; risk for sibling of affected individual: increases to 3%
PHYSICAL FINDINGS & CLINICAL PRESENTATION
• Marked impairment in the understanding and use of both verbal and nonverbal communication (probably underlies the profound impairment in social interaction)
• Stereotypic behavior or language
ETIOLOGY
• Majority of cases of autism are not associated with a medical condition.
• There is a significant increase in comorbid seizure disorder (25%) and mental retardation.
• Autism is sometimes associated with other neurologic conditions (e.g., encephalitis, phenylketonuria, fragile X, and others), suggesting that it may result from nonspecific neuronal injury.
• Specific abnormality that produces autistic symptoms has not been identified.
IMAGING STUDIES
• EEG to diagnose coexisting seizure disorder (a normal EEG does not rule out a seizure disorder.)
• Head CT scan or MRI to rule out tuberous sclerosis
• Possible BAER to rule out hearing deficit
• IQ testing to help determine functional level of the child
TREATMENT
NONPHARMACOLOGIC THERAPY
• A behavioral training program that is consistent in both the home and school environments is important.
• Educational needs should focus on language and social development.
• Most children need a highly structured environment.
• Educating the parents and teachers is of great value.
ACUTE GENERAL Rx
• Haloperidol or other high-potency neuroleptics are helpful in reducing aggression and stereotypy. Atypical neuroleptics, such as risperidone, also reduce aggression and irritabiltiy.
• Atypical neuroleptics, such as risperidone, also reduce aggression and irritability.
• Serotonin reuptake inhibitor antidepressants (fluoxetine, clomipramine, sertraline, paroxetine) are possibly useful in children with coexisting depression or with marked obsessive or ritualistic behaviors.
• Naltrexone is useful for children with self-injurious behaviors.
• Valproic acid and carbamazepine are preferred to phenytoin or phenobarbital for seizure control.
CHRONIC Rx
• Extended use of all medications used for acute management
• Potential for tardive dyskinesia with chronic use of neuroleptics
• Large doses of vitamin B6 and magnesium supplementation (mild ameliorating effect)
DISPOSITION
• Most children (70%) will require some degree of assistance as adults, will not be able to work, and will not achieve proper social adjustment.
• Some 10% (particularly if IQ is in the normal range and speech is achieved by age 5 yr) may have a reasonable outcome.
• Children with Asperger’s syndrome may have a very good outcome despite ongoing symptoms.
REFERRAL
Assistance may be needed in diagnosis, management, parental teaching, or intervention with the school system.
• EEG to diagnose coexisting seizure disorder (a normal EEG does not rule out a seizure disorder.)
• Head CT scan or MRI to rule out tuberous sclerosis
• Possible BAER to rule out hearing deficit
• IQ testing to help determine functional level of the child
TREATMENT
NONPHARMACOLOGIC THERAPY
• A behavioral training program that is consistent in both the home and school environments is important.
• Educational needs should focus on language and social development.
• Most children need a highly structured environment.
• Educating the parents and teachers is of great value.
ACUTE GENERAL Rx
• Haloperidol or other high-potency neuroleptics are helpful in reducing aggression and stereotypy. Atypical neuroleptics, such as risperidone, also reduce aggression and irritabiltiy.
• Atypical neuroleptics, such as risperidone, also reduce aggression and irritability.
• Serotonin reuptake inhibitor antidepressants (fluoxetine, clomipramine, sertraline, paroxetine) are possibly useful in children with coexisting depression or with marked obsessive or ritualistic behaviors.
• Naltrexone is useful for children with self-injurious behaviors.
• Valproic acid and carbamazepine are preferred to phenytoin or phenobarbital for seizure control.
CHRONIC Rx
• Extended use of all medications used for acute management
• Potential for tardive dyskinesia with chronic use of neuroleptics
• Large doses of vitamin B6 and magnesium supplementation (mild ameliorating effect)
DISPOSITION
• Most children (70%) will require some degree of assistance as adults, will not be able to work, and will not achieve proper social adjustment.
• Some 10% (particularly if IQ is in the normal range and speech is achieved by age 5 yr) may have a reasonable outcome.
• Children with Asperger’s syndrome may have a very good outcome despite ongoing symptoms.
REFERRAL
Assistance may be needed in diagnosis, management, parental teaching, or intervention with the school system.
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