Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a developmental disorder. It often appears in the first 3 years of life. ASD affects the brain's ability to develop normal social and communication skills.

Alternative Names

Autism; Autistic disorder; Asperger syndrome; Childhood disintegrative disorder; Pervasive developmental disorder

Causes

The exact cause of ASD isn't known. It's likely a number of factors that lead to ASD. Research shows that genes may be involved since ASD runs in some families. Certain medicines taken during pregnancy may also lead to ASD in the child.

Other causes have been suspected, but not proven. Some scientists believe that damage to a part of the brain, called the amygdala, may be involved. Others are looking at whether a virus may trigger symptoms.

Some parents have heard that vaccines may cause ASD. But studies have found no link between vaccines and ASD. All expert medical and government groups state that there is no link between vaccines and ASD.

The increase in children with ASD may be due to better diagnosis and newer definitions of ASD. Autism spectrum disorder now includes syndromes that used to be regarded as separate disorders:

Autistic disorder
Asperger syndrome
Childhood disintegrative disorder
Pervasive developmental disorder

Open Article Detail

Symptoms

Most parents of ASD children suspect that something is wrong by the time the child is 18 months old. Children with ASD often have problems with:

Pretend play
Social interactions
Verbal and nonverbal communication

Some children seem normal before age 1 or 2. They then suddenly lose language or social skills they already had.

Symptoms can vary from moderate to severe.

A person with autism may:

Be very sensitive in sight, hearing, touch, smell, or taste (for example, they refuse to wear "itchy" clothes and get upset if they're forced to wear the clothes)
Be very upset when routines are changed
Repeat body movements over and over
Be unusually attached to things

Communication problems may include:

Can't start or maintain a conversation
Uses gestures instead of words
Develops language slowly or not at all
Doesn't adjust gaze to look at objects that others are looking at
Doesn't refer to self the right way (for example, says "you want water" when the child means "I want water")
Doesn't point to show other people objects (normally occurs in the first 14 months of life)
Repeats words or memorized passages, such as commercials

Social interaction:

Doesn't make friends
Doesn't play interactive games
Is withdrawn
May not respond to eye contact or smiles, or may avoid eye contact
May treat others as objects
Prefers to be alone rather than with others
Isn't able to show empathy

Response to sensory information:

Doesn't startle at loud noises
Has very high or very low senses of sight, hearing, touch, smell, or taste
May find normal noises painful and hold their hands over their ears
May withdraw from physical contact because it's too stimulating or overwhelming
Rubs surfaces, mouths or licks objects
May have a very high or very low response to pain

Play:

Doesn't imitate the actions of others
Prefers solitary or ritualistic play
Shows little pretend or imaginative play

Behaviors:

Acts out with intense tantrums
Gets stuck on a single topic or task
Has a short attention span
Has very narrow interests
Is overactive or very passive
Is aggressive toward others or self
Shows a strong need for things being the same
Repeats body movements

Exams and Tests

All children should have routine exams done by their pediatrician. More tests may be needed if the doctor or parents are concerned. This is true if a child doesn't meet any of these language milestones:

Babbling by 12 months
Gesturing (pointing, waving bye-bye) by 12 months
Saying single words by 16 months
Saying two-word spontaneous phrases by 24 months (not just echoing)
Losing any language or social skills at any age

These children might need a hearing test, blood lead test, and screening test for ASD.

A health care provider experienced in diagnosing and treating ASD should see the child to make the actual diagnosis. Because there isn't a blood test for ASD, diagnosis is often based on guidelines from a medical book titled Diagnostic and Statistical Manual of Mental Disorders (DSM-V).

An evaluation of ASD often includes a complete physical and nervous system (neurologic) exam. Tests may be done to see if there is a problem with genes or the body's metabolism. Metabolism is the body's physical and chemical processes.

ASD includes a broad spectrum of symptoms. So, a single, brief evaluation can't tell a child's true abilities. It's best to have a team of specialists to evaluate the child. They might evaluate:

Communication
Language
Motor skills
Speech
Success at school
Thinking abilities

Some parents don't want to have their child diagnosed because they're afraid the child will be labeled. But without a diagnosis, their child may not get the needed treatment and services.

Treatment

At this time, there is no cure for ASD. A treatment program will greatly improve the outlook for most young children. Most programs build on the interests of the child in a highly structured schedule of constructive activities.

Treatment plans may combine techniques, including:

Applied behavior analysis (ABA)
Medicines, if needed
Occupational therapy
Physical therapy
Speech-language therapy

APPLIED BEHAVIORAL ANALYSIS (ABA)

This program is for younger children. It helps in some cases. ABA uses one-on-one teaching that reinforces various skills. The goal is to get the child close to normal functioning for their age.

An ABA program is often done in a child's home. A behavioral psychologist oversees the program. ABA programs can be very expensive and aren't widely used by school systems. Parents often have to find funding and staffing from other sources, which aren't available in many communities.

TEACCH

Another program is called the Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH). It uses picture schedules and other visual cues. These help children work on their own and organize and structure their environments.

Though TEACCH tries to improve a child's skills and ability to adapt, it also accepts the problems associated with ASD. Unlike ABA programs, TEACCH doesn't expect children to achieve typical development with treatment.

MEDICINES

There is no medicine that treats ASD itself. But medicines are often used to treat behavior or emotional problems that people with ASD may have. These include:

Aggression
Anxiety
Attention problems
Extreme compulsions that the child cannot stop
Hyperactivity
Impulsiveness
Irritability
Mood swings
Outbursts
Sleep difficulty
Tantrums

Only the drug risperidone is approved to treat children ages 5 through 16 for the irritability and aggression that can occur with ASD. Other medicines that may also be used are mood stabilizers and stimulants.

DIET

Some children with ASD seem to do well on a gluten-free or casein-free diet. Gluten is in foods containing wheat, rye, and barley. Casein is in milk, cheese, and other dairy products. Not all experts agree that changes in diet make a difference. And not all studies have shown positive results.

If you're thinking about these or other diet changes, talk to both a doctor and a registered dietitian. You want to be sure that your child is still getting enough calories and the right nutrients.

OTHER APPROACHES

Beware of widely publicized treatments for ASD that don't have scientific support, and reports of miracle cures. If your child has ASD, talk with other parents. Also discuss your concerns with ASD specialists. Follow the progress of ASD research, which is rapidly developing.

Support Groups

Many organizations provide additional information and help on ASD.

Outlook (Prognosis)

With the right treatment, many ASD symptoms can be improved. Most people with ASD have some symptoms throughout their lives. But, they're able to live with their families or in the community.

Possible Complications

ASD can be linked with other brain disorders, such as:

Some people with autism develop seizures.

The stress of dealing with autism can lead to social and emotional problems for families and caregivers, and for 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 provider if you think that your child is not developing normally.

References

American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Arlington, VA: American Psychiatric Publishing. 2013.

Centers for Disease Control and Prevention. Autism spectrum disorder, recommendations and guidelines. Last updated February 26, 2015. www.cdc.gov/ncbddd/autism/hcp-recommendations.html. Accessed May 25, 2016.

Nass R, Ross G. Developmental disabilities. In: Daroff RB, Fenichel GM, Jankovic J, Mazziotta JC, eds. Bradley's Neurology in Clinical Practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 61.

Nazeer A, Ghaziuddin M. Autism spectrum disorders: clinical features and diagnosis. Pediatr Clin N Am. 2012;59:19-25. PMID: 22284790 www.ncbi.nlm.nih.gov/pubmed/22284790.

Raviola GJ, Trieu ML, DeMaso DR, Walter HJ. Autism spectrum disorder. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 30.