• 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)
A two-part process:
1. Establish the diagnosis.
2. Determine if there are any associated medical conditions.
• 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.)
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.
Early infantile 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
• 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.
• 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
• 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.
• 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)
• 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.
Assistance may be needed in diagnosis, management, parental teaching, or intervention with the school system.