Autism spectrum disorders (ASDs)

If your pediatrician is concerned that your child has an autism spectrum disorder (ASD) or is having significant developmental or behavioral difficulties, your provider may recommend that your child see a specialist for a full evaluation. This involves:

• making a diagnosis—distinguishing between ASDs and other behavioral or developmental disorders or medical conditions
• assessing your child for related medical concerns
• determining potential genetic causes
• outlining your child’s unique strengths and challenges

The process of evaluating your child involves more than simply diagnosing him with autism, Asperger’s, or PDD-NOS. At Children’s Hospital Boston, we perform in-depth evaluations to understand your child’s unique situation.

A number of specialists are able to evaluate children for ASDs. These include:

• child neurologists
• developmental behavioral pediatricians
• child psychologists
• child psychiatrists

At Children’s, your child can be seen in either our Developmental Medicine Center or our Behavioral Neurology Program in the Neurology department. Specialists in these programs coordinate any additional evaluation or care that your child may need in other departments at Children’s.

More than one specialist may be involved in your child’s assessment. Depending on your child’s age and needs, the team might also include an educational specialist, speech-language pathologist or occupational therapist.

There’s no laboratory test that can tell whether your child has an ASD; currently, the diagnosis is based solely on your child’s behavior. During assessment, your child’s team will:

• perform a medical and neurological examination
• study your child’s cognitive and language abilities
• observe your child’s behavior
• talk with your family in depth about your child’s behavior and development
• learn about your child’s family history

Identifying related medical conditions

Your child’s team will probably also perform several other types of tests, if they haven’t already been done. These may include:

• hearing and vision screening to see whether your child has a problem that might be contributing to his symptoms
• blood lead testing
• Wood’s lamp exam, a special skin test to screen for tuberous sclerosis

Children who have autism spectrum disorders are more likely than others to have a number of other conditions, such as epilepsy, metabolic diseases, sleep disturbances and other neurological disorders. So we may also perform tests such as:

• metabolic testing
• neuroimaging (such as MRI)
• electroencephalography (EEG)

Not all children need these types of testing. Your child’s team will recommend specific tests based on your child’s history, physical examination and cognitive and behavioral testing.

Children with ASDs often have other challenges, such as being especially selective with their food. This can mean that your child isn’t getting the nutrients he needs. Your child’s team will be on the lookout for these kinds of issues to make sure that your child is healthy and to prevent other medical problems from cropping up.

Genetic testing

At Children’s, we recommend that all children who’ve been diagnosed with an autism spectrum disorder get genetic (DNA) testing to screen for conditions that are associated with ASDs.

Although ASDs clearly have a genetic component, there’s no genetic test that’s able to determine whether your child has an ASD—the diagnosis is based on your child’s behavior, not his DNA. There are, however, some specific DNA changes that have been linked to ASDs. These DNA changes are rare, but if your child is diagnosed with an ASD, it’s important to check for them since they often cause other medical issues that your child will need care for. For some families, information from genetic testing can also be important for family planning.

At Children’s, genetic testing for ASDs routinely includes a chromosomal microarray (CMA) test and testing for fragile X syndrome. Other genetic testing may be appropriate for children with particular symptoms in addition to the ASD.

Experts led by Children’s medical geneticist David Miller, MD, PhD, and Children’s Genetics Diagnostic Lab director Bai-Lin Wu, PhD, published a consensus statement on the importance of making the CMA test a standard part of assessing a child who has an ASD. This statement is presented at the Autism Consortium website and discussed in a post on Children’s blog Thrive.

Describing your child’s unique strengths and challenges

Diagnosing an autism spectrum disorder involves more than just putting a name on your child’s condition: It involves describing exactly what that condition looks like in your child. That’s true for any disorder, but it’s especially true for ASDs, since they’re so different in each child.

So if your child’s team determines that he has the core symptoms that define an ASD, their work has just begun. They then go on to assess your child in detail. For example:

• What kind of language skills does your child have?
• At what age did his symptoms start? Has he experienced a regression in skills?
• Does he have any related cognitive problems?
• Does he have any challenging behaviors? Is he able to pay attention for extended periods?

This in-depth evaluation is crucial for defining what kinds of educational programs and behavioral therapies your child could benefit from. Your child’s team will provide detailed recommendations that will be useful for you, your child’s school and other providers. See the Treatment & Care tab to learn more about treatment strategies for children with ASDs.

Ongoing monitoring and care

As your child grows up, we will continue to see him periodically to assess his progress and make new recommendations for education and therapy.