Autism

Definition
Autism is a complex developmental disorder that appears in the first 3 years of life, although it is sometimes diagnosed much later. It affects the brain's normal development of social and communication skills.
Autism is a spectrum that encompasses a wide range of behavior. The common features include impaired social interactions, impaired verbal and nonverbal communication, and restricted and repetitive patterns of behavior.
The symptoms may vary from moderate to severe. Two related, milder conditions are Asperger syndrome and "pervasive development disorder not otherwise specified" (PDD-NOS).

Alternative Names
Pervasive developmental disorder - autism
Causes, incidence, and risk factors
Autism is a physical condition linked to abnormal biology and chemistry in the brain. The exact causes of these abnormalities remain unknown, but this is a very active area of research. There are probably a combination of factors that lead to autism.
Genetic factors seem to be important. For example, identical twins are much more likely than fraternal twins or siblings to both have autism. Similarly, language abnormalities are more common in relatives of autistic children. Chromosomal abnormalities and other neurological problems are also more common in families with autism.
A number of other possible causes have been suspected, but not proven. They involve digestive tract changes, diet, mercury poisoning, vaccine sensitivity, and the body's inefficient use of vitamins and minerals.
The exact number of children with Autism is not known, but estimates suggest that roughly 1 in 1,000 children are affected. Autism affects boys 3 to 4 times more often than girls. Family income, education, and lifestyle do not seem to affect the risk of autism.
Some parents have heard that the MMR vaccine that children receive may cause autism. This theory was based, in part, on two facts. First, the incidence of autism has increased steadily since around the same time the MMR vaccine was introduced. Second, children with the regressive form of autism (a type of autism that develops after a period of normal development) tend to start to show symptoms around the time the MMR vaccine is given. This is likely a coincidence due to the age of children at the time they receive this vaccine.
Several major studies have found NO connection between the vaccine and autism, however. The American Academy of Pediatrics and the Center for Disease Control and Prevention report that there is no proven link between autism and the MMR vaccine.
Some doctors attribute the increased incidence in autism to newer definitions of autism. The term "autism" now includes a wider spectrum of children. For example, a child who is diagnosed with high-functioning autism today may have been thought to simply be odd or strange 30 years ago.

Symptoms
Most parents of autistic children suspect that something is wrong by the time the child is 18 months old and seek help by the time the child is 2. Children with autism typically have difficulties in verbal and nonverbal communication, social interactions, and pretend play. In some, aggression -- toward others or self -- may be present.
Some children with autism appear normal before age 1 or 2 and then suddenly "regress" and lose language or social skills they had previously gained. This is called the regressive type of autism.
People with autism may perform repeated body movements, show unusual attachments to objects or have unusual distress when routines are changed. Individuals may also experience sensitivities in the senses of sight, hearing, touch, smell, or taste. Such children, for example, will refuse to wear "itchy" clothes and become unduly distressed if forced because of the sensitivity of their skin. Some combination of the following areas may be affected in varying degrees.

Communication:
Is unable to start or sustain a social conversation
Develops language slowly or not at all
Repeats words or memorized passages, like commercials
Doesn't refer to self correctly (for example, says "you want water" when the child means "I want water")
Uses nonsense rhyming
Communicates with gestures instead of words
Social interaction:
Shows a lack of empathy
Does not make friends
Is withdrawn
Prefers to spend time alone, rather than with others
May not respond to eye contact or smiles
May actually avoid eye contact
May treat others as if they are objects
Does not play interactive games
Response to sensory information:
Has heightened or low senses of sight, hearing, touch, smell, or taste
Seems to have a heightened or low response to pain
May withdraw from physical contact because it is overstimulating or overwhelming
Does not startle at loud noises
May find normal noises painful and hold hands over ears
Rubs surfaces, mouths or licks objects
Play:
Shows little pretend or imaginative play
Doesn't imitate the actions of others
Prefers solitary or ritualistic play
Behaviors:
Has a short attention span
Uses repetitive body movements
Shows a strong need for sameness
"Acts up" with intense tantrums
Has very narrow interests
Demonstrates perseveration (gets stuck on a single topic or task)
Shows aggression to others or self
Is overactive or very passive

Signs and tests
All children should have routine developmental exams by their pediatrician. Further testing may be needed if there is concern on the part of the clinician or the parents. This is particularly true whenever a child fails to meet any of the following language milestones:
Babbling by 12 months
Gesturing (pointing, waving bye-bye) by 12 months
Single words by 16 months
Two-word spontaneous phrases by 24 months (not just echoing)
Loss of any language or social skills at any age.
These children might receive a hearing evaluation, a blood lead test, and a screening test for autism (such as the Checklist for Autism in Toddlers (CHAT) or the Autism Screening Questionnaire).
A health care provider experienced in the diagnosis and treatment of autism is usually necessary for the actual diagnosis. Because there is no biological test for autism, the diagnosis will often be based on very specific criteria laid out in a book called the Diagnostic and Statistical Manual IV.
The other pervasive developmental disorders include:
Asperger syndrome (like autism, but with normal language development)
Rett syndrome (very different from autism, and only occurs in females)
Childhood disintegrative disorder (rare condition where a child acquires skills, then loses them by age 10)
Pervasive developmental disorder - not otherwise specified (PDD-NOS), also called atypical autism.
An evaluation of autism will often include a complete physical and neurologic examination. It may also include a specific diagnostic screening tool, such as:
Autism Diagnostic Interview - Revised (ADI-R)
Autism Diagnostic Observation Schedule (ADOS)
Childhood Autism rating Scale (CARS)
Gilliam Autism Rating Scale
Pervasive Developmental Disorders Screening Test-Stage 3
Children with known or suspected autism will often have genetic testing (looking for chromosome abnormalities) and perhaps metabolic testing.
Autism encompasses a broad spectrum of symptoms. Therefore, a single, brief evaluation cannot predict a child's true abilities. Ideally, a team of different specialists will evaluate the child. They might evaluate speech, language, communication, thinking abilities, motor skills, success at school, and other factors.
Sometimes people are reluctant to have a child diagnosed because of concerns about labeling the child. However, failure to make a diagnosis can lead to failure to get the treatment and services the child needs.

Treatment
An early, intensive, appropriate treatment program will greatly improve the outlook for most young children with autism. Most programs will build on the interests of the child in a highly structured schedule of constructive activities. Visual aids are often helpful.
Treatment is most successful when geared toward the child's particular needs. An experienced specialist or team should design the individualized program. A variety of effective therapies are available, including applied behavior analysis (ABA), speech-language therapy, medications, occupational therapy, and physical therapy. Sensory integration and vision therapy are also common, but there is little research supporting their effectiveness. The best treatment plan may use a combination of techniques.