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Autism Spectrum Disorders

By Stephen Brian Sulkes, MD

Autism spectrum disorders (ASDs) are conditions in which people have difficulty developing normal social relationships, use language abnormally or not at all, and behave in compulsive and ritualistic ways.

  • Affected people have difficulty communicating with and relating to others.

  • People with an autism spectrum disorder also have restricted patterns of behavior, interests, and/or activities and often follow rigid routines.

  • Diagnosis is based on observation and the reports of parents and other caregivers.

  • Most people respond best to highly structured behavioral interventions.

Autism spectrum disorders are considered a spectrum (range) of disorders because the manifestations vary widely in type and severity. Previously, ASDs were subclassified into classic autism, Asperger syndrome, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. However, doctors currently do not use this terminology and consider these all as ASDs (except for Rett syndrome, which is a distinct genetic disorder). ASDs are different from intellectual disability, although many people with ASDs have both. The classification system emphasizes that, within the broad spectrum, different features may occur more or less strongly in a given individual.

The estimated number of people identified with an autism spectrum disorder continues to rise as doctors and caregivers learn more about the symptoms of the disorder.

Symptoms of autism spectrum disorders may appear in the first 2 years of life, but in milder forms symptoms may not be detected until school age. These disorders occur in about 1 of 68 people based on recent population statistics and are 4 times more common among boys than among girls.

The specific causes of autism spectrum disorders are not fully understood, although they are often related to genetic factors. For parents of one child with an ASD, risk of having another child with an ASD is 50 to 100 times greater. Several genetic abnormalities, such as Fragile X syndrome and Down syndrome, may be associated with ASD. Prenatal infections, for example, viral infections such as rubella or cytomegalovirus (see Table: Some Infections of Newborns), may also play a role. It is clear, however, that ASDs are not caused by poor parenting, adverse childhood conditions, or vaccinations.

Did You Know...

  • Autism spectrum disorders are not caused by vaccinations.

Symptoms

Children with an autism spectrum disorder develop symptoms in the following areas:

  • Social communications and interactions

  • Behavior, interests, and activities

Symptoms range from mild to severe, but most people require some level of support in both areas. People with an ASD vary widely in their ability to function independently in school or society and in their need for supports. In addition, about 20 to 40% of children with an ASD, particularly those with an IQ less than 50, develop seizures before reaching adolescence. In about 25% of affected children, a regression in development occurs around the time of diagnosis and may be the initial indicator of a disorder.

Social communications and interactions

Often, infants with an ASD cuddle and make eye contact in atypical ways. Although some affected infants become upset when separated from their parents, they may not turn to parents for security as do other children. Older children often prefer to play by themselves and do not form close personal relationships, particularly outside of the family. When interacting with other children, they may not use eye contact and facial expressions to establish social contact, and they have difficulty interpreting the moods and expressions of others. They may have difficulty knowing how and when to join a conversation and difficulty recognizing inappropriate or hurtful speech. These factors may cause others to view them as odd or eccentric and thus lead to social isolation.

Language

The most severely affected children never learn to speak. Those who learn may do so much later than normal and use words in an unusual way. They often repeat words spoken to them (echolalia), use memorized scripted speech in place of more spontaneous language, or reverse the normal use of pronouns, particularly using you instead of I or me when referring to themselves. Conversation may not be interactive, and, when present, is used more to label or request than to share ideas or feelings. People with an autism spectrum disorder may speak with an unusual rhythm and pitch.

Behavior, interests, and activities

People with an autism spectrum disorder are often very resistant to changes, such as new food, toys, furniture arrangement, and clothing. They may become excessively attached to particular inanimate objects. They often do things repetitively. Younger and/or more severely affected children often repeat certain acts, such as rocking, hand flapping, or spinning objects. Some may injure themselves through repetitive behaviors such as head banging or biting themselves. Less severely affected people may watch the same video multiple times or insist on eating the same food every meal. People with an ASD often have very specialized, often unusual interests. For instance, a child may be preoccupied with vacuum cleaners.

People with an autism spectrum disorder often have over-reactions or under-reactions to sensations. They may be extremely repelled by certain odors, tastes, or textures, or react unusually to painful, hot, or cold sensations that other people find distressing. They may ignore some sounds and be extremely bothered by others.

Intelligence

Many people with an ASD have some degree of intellectual disability (an IQ less than 70). Their performance is uneven. They usually do better on tests of motor and spatial skills than on verbal tests. Some people with an ASD have idiosyncratic or "splinter" skills, such as the ability to carry out complex mental arithmetic or advanced musical skills. Unfortunately, such people often cannot use these skills in a productive or socially interactive way.

Diagnosis

  • A doctor's evaluation

The diagnosis is made by close observation of the child in a playroom setting and careful questioning of parents and teachers. Standardized screening tests, such as the Social Communication Questionnaire and the Modified Checklist for Autism in Toddlers (M-CHAT-R) may help identify children who need more in-depth testing. Psychologists and other specialists may use the more extensive Autism Diagnostic Observation Schedules and other tools. In addition to giving standardized tests, doctors should do certain blood or genetic tests to look for underlying treatable or inherited medical disorders, such as hereditary metabolic disorders and Fragile X syndrome.

Treatment

  • Behavioral therapy

  • Speech and language therapy

  • Sometimes drug therapy

The symptoms of autism spectrum disorders generally persist throughout life. The prognosis is strongly influenced by how much usable language the child has acquired by elementary school age. Children with an ASD who have lower measured intelligence—for example, those who score below 50 on standard IQ tests—are likely to need more intensive support as adults.

Intensive behavior modification techniques often benefit children with an ASD. Children with higher IQs are helped by therapy aimed at developing social skills. Individualized special education is crucial and often includes speech, occupational, physical, and behavioral therapy within a program equipped to manage children with an ASD.

Drug therapy cannot change the underlying disorder. However, the selective serotonin reuptake inhibitors (SSRIs), such as fluoxetine, paroxetine, and fluvoxamine, are often effective in reducing ritualistic behaviors of people with an ASD. Antipsychotic drugs, such as risperidone, may be used to reduce self-injurious behavior, although the risk of side effects (such as weight gain and movement disorders) must be considered. Mood stabilizers and psychostimulants may be helpful for people who are inattentive or impulsive or who have hyperactivity.

The federal Individuals with Disabilities Education Act (IDEA) requires public schools to provide free and appropriate education to children and adolescents with ASD. Education must be provided in the least restrictive, most inclusive setting possible—where the children have every opportunity to interact with nondisabled peers and have equal access to community resources.

Although some parents try special diets, gastrointestinal therapies, or immunologic therapies, currently there is no good evidence that any of these therapies are helpful in children with an ASD. Other complementary therapies, such as facilitated communication, chelation therapy, auditory integration training, and hyperbaric oxygen therapy, have not been proved effective. In considering such treatments, families should consult with the child's primary physician regarding benefits and risks.

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Drugs Mentioned In This Article

  • Generic Name
    Select Brand Names
  • LUVOX
  • PAXIL
  • PROZAC, SARAFEM
  • RISPERDAL

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