Handbook of Genetic Counseling/Autism-2

Autism

What is autism?

 * Autism is considered an organic neurodevelopmental disorder characterized by social, communication, and intellectual developmental disturbance.
 * It was first described in 1943, and was thought at the time that parents were not giving their children enough love and attention. It is now realized that the parents are in no way to blame for the condition.
 * It is generally diagnosed by age three. Based on age of onset, it may be called infantile autism or childhood-onset autism (also called pervasive developmental disorder). These have not been proven to be different disorders, although infantile autism is usually more severe.
 * Characterized by a state of self-absorbance, delayed communication, and a need to maintain routine and repetitive bizarre motor patterns.
 * Associated with fragile X syndrome, tuberous sclerosis, PKU, and Tourette's syndrome.
 * There are not medical tests for autism. Diagnosis is based on observations of the child's behavior. Speech, hearing, and psychological tests are often done.
 * An EEG (electroencephalogram) is often done to look at brain wave abnormalities, which indicate epilepsy. Children with autism sometimes develop epilepsy as they get older.
 * Severity of autism is highly variable.

Symptoms

 * Usually, parents first notice that their baby does not respond to them. The baby may not look at the parents or may not want to be picked up and held.
 * Slow development or lack of physical, social, and learning skills.
 * Development may appear to be uneven. For example, motor development may be normal, but talking is delayed. Also, the child may show a talent for music or drawing but be unable to go to a regular school.
 * Immature rhythms of speech, limited understanding of ideas, use of words without attaching the usual meaning to them.
 * Unresponsive to what is said to them. May appear to be deaf, but really they do not learn the meaning of words. Often seem to be talking to themselves instead of to people around them.
 * Sometimes indicate their needs by gesturing, but usually scream, cry, or have temper tantrums.
 * Abnormal responses to sensations. Sight, hearing, touch, pain, balance, smell, taste, may be affected.
 * Abnormal ways of relating to people, objects, and events. Typically, children with autism do not respond appropriately to adults and other children. Objects and toys are not used as normally intended.
 * Normal relationships with others do not develop. They have difficulty playing with other children. May be withdrawn and inactive.
 * Repetition of actions, words, or body movements such as twirling objects or flapping their hands. Seem to want their lives to be patterns and may become upset by a change in routine.

Quick List of Common Behaviors

 * No cuddling
 * Resistance to change in routine
 * No eye contact
 * Difficulty mixing with other children
 * Gesturing to show needs
 * No fear of real dangers
 * Acting as if deaf
 * Standoffish manner
 * Resistance to learning
 * Sustained odd play
 * Marked physical overactivity
 * Inappropriate attachment to objects
 * Inappropriate laughing and giggling
 * Spinning of objects
 * Rocking movements or hand flapping
 * Sparse, meaningless, or echo speech

Prevalence

 * Incidence is estimated at 4-5/10,000
 * Affects all race, ethnicities, and social classes equally
 * More common in males (3 or 4 to 1), but females are more severely affected
 * About 75% are mentally retarded (IQ below 70)

Causes of Autism

 * Research suggests it is caused by a defect in brain functioning.
 * Multifactorial inheritance with a strong clustering in families.

Prognosis

 * Variable, but at least 2/3 remain severely handicapped as adults.
 * There is no cure.
 * Normal life expectancy.
 * 1/3 of children develop epilepsy or seizures.
 * Many often improve as they grow older, but will continue to have problems relating to others. Adolescence may worsen behavior problems in some

Management

 * Treatment consists of educational and behavioral methods aimed at decreasing behavioral symptoms and aiding in the development of language and self-help skills.
 * Psychopharmacotherapy is often helpful.

Inheritance

 * A couple with one autistic child has a 1/50 chance of having another. This is higher is the couple has an affected female child.
 * The brothers and sisters and close relatives of children with autism have more problems such as epilepsy, learning disabilities, and mental retardation.

Patient Resources

 * National Society for Autistic Children (NSAC)
 * Autism Society of America