What Is Autism Spectrum Disorder?

 
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This is an informational publication from the NIMH allrights reserved

Autism spectrum disorder (ASD) is characterized by:

• Persistent deficits in social communication and social interaction across multiple contexts;
• Restricted, repetitive patterns of behavior, interests, or activities;
• Symptoms must be present in the early developmental period (typically recognized in the first two years of life); and,
• Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.

Spectrum refers to wide range of symptoms, skills etc.

The term “spectrum” refers to the wide range of symptoms, skills, and levels of impairment or disability that children with ASD can have. Some children are mildly impaired by their symptoms, while others are severely disabled. The latest edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) no longer includes Asperger’s syndrome; the characteristics of Asperger’s syndrome are included within the broader category of ASD.

Causes

Scientists don't know the exact causes of autism spectrum disorder (ASD), but research suggests that both genes and environment play important roles.

Genetic factors
In identical twins who share the exact same genetic code, if one has ASD, the other twin also has ASD in nearly 9 out of 10 cases. If one sibling has ASD, the other siblings have 35 times the normal risk of also developing the disorder. Researchers are starting to identify particular genes that may increase the risk for ASD.
Still, scientists have only had some success in finding exactly which genes are involved. For more information about such cases, see the information below about Fragile X syndrome and tuberous sclerosis.

Most people who develop ASD have no reported family history of autism, suggesting that random, rare, and possibly many gene mutations are likely to affect a person's risk. Any change to normal genetic information is called a mutation. Mutations can be inherited, but some arise for no reason. Mutations can be helpful, harmful, or have no effect.
Having increased genetic risk does not mean a child will definitely develop ASD. Many researchers are focusing on how various genes interact with each other and environmental factors to better understand how they increase the risk of this disorder.

Environmental factors
In medicine, "environment" refers to anything outside of the body that can affect health. This includes the air we breathe, the water we drink and bathe in, the food we eat, the medicines we take, and many other things that our bodies may come in contact with. Environment also includes our surroundings in the womb, when our mother's health directly affects our growth and earliest development.
Researchers are studying many environmental factors such as family medical conditions, parental age and other demographic factors, exposure to toxins, and complications during birth or pregnancy.

As with genes, it's likely that more than one environmental factor is involved in increasing risk for ASD. And, like genes, any one of these risk factors raises the risk by only a small amount. Most people who have been exposed to environmental risk factors do not develop ASD. The National Institute of Environmental Health Sciences is also
conducting research in this area. More information is available on their web site http://www.niehs.nih.gov/health/topics/conditions/autism/index.cfm

Scientists are studying how certain environmental factors may affect certain genes—turning them on or off, or increasing or decreasing their normal activity. This process is called epigenetics and is providing researchers with many new ways to study how disorders like ASD develop and possibly change over time.

Early Signs and Symptoms

Symptoms of autism spectrum disorder (ASD) vary from one child to the next, but in general, they fall into two areas:

• Social impairment, including difficulties with social communication
• Repetitive and stereotyped behaviors.

Children with ASD do not follow typical patterns when developing social and communication skills. Parents are usually the first to notice unusual behaviors in their child. Often, certain behaviors become more noticeable when comparing children of the same age.
In some cases, babies with ASD may seem different very early in their development. Even before their first birthday, some babies become overly focused on certain objects, rarely make eye contact, and fail to engage in typical back-and-forth play and babbling with their parents. Other children may develop normally until the second or even third year of life, but then start to lose interest in others and become silent, withdrawn, or indifferent to social signals. Loss or reversal of normal development is called regression and occurs in some children with ASD.


Information on ASD can also be found on the Eunice Kennedy Shriver National Institute of Child Health and  http://www.nichd.nih.gov/health/topics/autism/Pages/default.aspx and the Centers for Disease Control and Prevention http://www.cdc.gov/ncbddd/autism/index.html

Scholarly disorders
Brain structural abnormalities in young children with autism spectrum disorder
http://www.neurology.org/content/59/2/184.short

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