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.

Common features of autism include impaired social interactions, impaired verbal and nonverbal communication, problems processing information from the senses, 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

Causes

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. A report released by the U.S. Centers for Disease Control and Prevention (CDC) suggests that autism and related disorders are more common than previously thought, although it is unclear if this is due to an increasing rate of the illness or an increased ability to diagnose the illness.

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:

• Lack of pointing to direct others' attention to objects (occurs in the first 14 months of life)
• Does not adjust gaze to look at objects that others are looking at
• Cannot start or sustain a social conversation
• Develops language slowly or not at all
• Repeats words or memorized passages, such as commercials
• Does not 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

Exams 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.

APPLIED BEHAVIORAL ANALYSIS (ABA)

This program is for younger children with an autism spectrum disorder. It highly effective in many cases. ABA uses a one-on-one teaching approach that relies on reinforced practice of various skills. The goal is to get the child close to typical developmental functioning.

ABA programs are usually conducted within a child's home, under the supervision of a behavioral psychologist. Unfortunately, these programs can be very expensive and have not been widely adopted by school systems. Parents often must seek funding and staffing from other sources, which can be hard to find in many communities.

TEACCH

Another program is called the Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH). TEACCH, developed as a statewide program in North Carolina, uses picture schedules and other visual cues. These help the child work independently and to organize and structure their environments. Though TEACCH tries to enhance a child's adaptation and skills, there is also an acceptance of the deficits associated with autism spectrum disorders. In contrast to ABA programs, TEACCH programs do not anticipate that children will achieve typical developmental progress in response to the treatment.

MEDICINE

Medicines are often used to treat behavior or emotional problems that people with autism may have. These include hyperactivity, impulsiveness, attention problems, irritability, mood swings, outbursts, tantrums, aggression, extreme compulsions that the child finds it impossible to suppress, sleep difficulty, and anxiety. Currently, only risperidone is approved for treatment of children ages 5-16 with irritability and aggression associated with autism.

DIET

Some children with autism appear to respond to a gluten-free or a casein-free diet. Gluten is found in foods containing wheat, rye, and barley. Casein is found in milk, cheese, and other dairy products. Not all experts agree that dietary changes will make a difference, and not all reports studying this method have shown positive results.

If considering these or other dietary changes, seek guidance from both a gastroenterologist (doctor who specializes in the digestive system) and a registered dietitian. You want to be sure that the child is still receiving adequate calories, nutrients, and a balanced diet.

OTHER APPROACHES

Beware that there are widely publicized treatments for autism that do not have scientific support, and reports of "miracle cures" that do not live up to expectations. If your child has autism, it may be helpful to talk with other parents of children with autism, talk with autism specialists, and follow the progress of research in this area, which is rapidly developing.

At one time, there was enormous excitement about using secretin infusions. Now, after many studies have been conducted in many laboratories, it's possible that secretin is not effective after all, but research is ongoing.

Support Groups

For organizations that can provide additional information and help on autism, see autism resources.

Outlook (Prognosis)

Autism remains a challenging condition for individuals and their families, but the outlook today is much better than it was a generation ago. At that time, most people with autism were placed in institutions. Today, with appropriate therapy, many of the symptoms of autism can be improved, though most people will have some symptoms throughout their lives. Most people with autism are able to live with their families or in the community.

The outlook depends on the severity of the autism and the level of therapy the individual receives.

Possible Complications

Autism can be associated with other disorders that affect the brain, such as tuberous sclerosis, mental retardation, or fragile X syndrome

The stresses of dealing with autism can lead to social and emotional complications for family and caregivers, as well as the person with autism.

When to Contact a Medical Professional

Parents usually suspect that there is a developmental problem long before a diagnosis is made. Call your health care provider with any concerns about autism or if you are concerned that your child is not developing normally.

Autism and Developmental Disabilities Monitoring Network Surveillance Year 2002 Principal Investigators; Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders--autism and developmental disabilities monitoring network, 14 sites, United States, 2002. MMWR Surveill Summ. 2007 Feb 9;56(1):12-28.

Muhle R, Trentacoste V, Rapin I. The Genetics of Autism. Pediatrics. 2004;113;472-486.