Autism Spectrum Disorders (ASD) | Diagnosis & Treatments

Currently, there is no definitive laboratory test for autism spectrum disorder (ASD), though active research is looking for “biomarkers” including genetic tests and brain imaging tests, differences on electroencephalograms (EEGs), and brain imaging tests. (The Autism Research Program is discovering possible biomarkers in babies as young as 6 months.)

For now, though, ASD is diagnosed based on a child’s symptoms and behavior. Usually, the primary care pediatrician will suggest an evaluation by a specialist.

How do I know that my child might have autism?

These are some things parents of children with ASD have noticed in their child:

  • trouble interacting or communicating with others, including family
  • trouble speaking or not speaking at all
  • difficulty expressing his feelings
  • inability to understand how another person feels
  • disinterest in physical contact with other people
  • being withdrawn or preferring to do things by himself
  • difficulty making friends
  • avoidance of eye contact
  • not using gestures such as pointing
  • saying a word or phrase repeatedly (“echolalia”)
  • trouble understanding subtleties in language, like sarcasm or jokes
  • repetitive motions, such as rocking or flapping hands or spinning in circles
  • unusual rituals or ways of playing with toys
  • a preference for routines, and anxiety when a routine is broken
  • a particular area of interest that consumes a lot of his attention
  • unusual sensory behaviors such as:
    • being preoccupied with lights or moving objects
    • peering at things out of the corner of his eye
    • dislike of certain kinds of sensory stimulation, such as loud noises
    • craving other sensory inputs, such as deep pressure on his skin

It’s important to note that typically developing children can also show some of the above behaviors — like flapping their arms when they’re excited or having an unusually strong interest. In children who have ASD, however, these behaviors are more pronounced, more frequent, and tend to get in the way of doing other things. Sometimes other neurodevelopmental disorders, such as language or cognitive disorders, have symptoms that are similar to ASD.

For more information, visit the Center for Disease Control and Prevention’s ASD website. In addition, the Autism Speaks website has a library of videos showing many of the behaviors of ASD.

Testing for autism spectrum disorder in children

At the Autism Spectrum Center at Boston Children’s, ASD assessments include:

  • a medical and neurological examination
  • a review of your child’s cognitive abilities
  • assessment of your child’s speech and language abilities
  • observation of your child’s behavior
  • an in-depth conversation with you and your family about your child’s behavior and development
  • questions about your child’s family history

How is autism diagnosed?

Making an ASD diagnosis is just the beginning. Our clinicians will then perform in-depth evaluations to understand your child’s unique strengths and challenges. This evaluation is crucial for defining what kinds of educational programs and behavioral therapies would be most beneficial.

We may involve a number of specialists, such as child neurologists, developmental behavioral pediatricians, speech-language pathologists, child psychologists and psychiatrists, nurse practitioners, educational specialists, and occupational therapists. Questions you may be asked include:

  • 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 or learning problems?
  • Does he have any challenging behaviors?
  • Is he able to pay attention for extended periods?

If appropriate, we may recommend testing to look for related medical concerns based on your child’s history, physical examination findings, and results of cognitive and behavioral testing. For instance, children with ASD often have sleep difficulties, and some develop seizures or epilepsy. Our staff can help make this testing as comfortable as possible for your child — read more about our work to make blood draws easier for children with autism.

Additional tests 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
  • testing for metabolic disorders
  • neuroimaging (such as MRI)
  • electroencephalography (EEG)
  • nutritional evaluation for children who eat very limited foods

Genetic testing for ASD

At Boston Children’s Hospital, we recommend that all children who have been diagnosed with ASD get genetic testing to screen for specific DNA changes that have been linked to ASD and could cause other medical issues. For some families, information from genetic testing can also be important for family planning.

Genetic testing for ASD at Boston Children’s currently includes a chromosomal microarray (CMA) test and testing for fragile X syndrome (in boys). Other genetic testing may be appropriate for children who have particular symptoms. As new genes are found to be important in ASD, some may be added to routine testing.

Behavioral therapies for autism spectrum disorder

If your child has just been diagnosed with autism spectrum disorder (ASD), you may feel you’ve entered a maze, trying to find the best therapies to help your child communicate, have meaningful interactions with others, and develop the skills he needs to reach his full potential.

A variety of intensive behavioral therapies can help children with ASD build language, social, and play skills. Most are provided through programs run by your state and local school system. They include early intervention services for children under age 3 and special education services for children age 3 and older.

We can recommend specific therapies and educational strategies that address your child’s needs while playing to her strengths. For instance, some children are strong visual learners: they may not understand if you explain something verbally, but can instantly grasp a new idea from a picture. Some children may not speak or make good eye contact, but can understand spoken requests and explanations.

In any case, experts agree that therapy should start as early as possible, should be intensive and highly structured, should be done one-on-one or in very small groups, and should actively include families. Often, children receive a combination of different therapies. The effectiveness of any therapy plan should be evaluated frequently, so that changes can be made if needed.

  • Applied behavioral analysis (ABA) is a well-studied, often very effective therapy that identifies behaviors that need to be reduced and those that need to be reinforced. ABA involves practicing new skills repeatedly and creating positive reinforcements. The therapist breaks down new skills into small steps so a child can build more complex skills over time, and customizes the program to each child’s interests, abilities, and behavior.
  • DIR®/Floortime™ is a developmental relationship-based therapy that uses social relationships between caregivers and children to improve a child’s social and communication skills.
  • Other relationship-based therapies include SCERTS® (Social Communication, Emotional Regulation and Transactional Supports) and RDI (Relationship Development Intervention).

Our team at the Autism Spectrum Center includes ASD resource specialists who will help you choose among developmental and educational therapies and navigate community resources. Learn more here.

Additional therapies for ASD

Your child’s treatment program may also involve a number of other components:

  • Speech-language therapy can help your child understand language and use it to express himself. At Boston Children’s, extensive services are offered through our Center for Communication Enhancement.
  • Total communication interventions through our Autism Language Program can help your child use any possible means of communication — including speech, symbol systems, gestures, sign language, and innovative technologies.
  • Occupational and physical therapy may develop your child’s fine and gross motor skills (e.g., using her hands or other parts of her body), and dealing with sensory inputs from her environment.

Are there complementary therapies for ASD?

Many families use complementary therapies such as supplements, diet changes, or alternative biomedical interventions. Our team is always happy to discuss these therapies with you, and we would want to be aware of any therapies that you’re considering.

Unfortunately, while there is a lot of anecdotal information available, especially on the Internet, most of these treatments are not well studied. Some medications, herbal therapies, vitamin supplements, or special diets, even if termed “natural” or “herbal,” may be ineffective and even unsafe or harmful if not used properly. For example, many families consider the gluten-free/casein-free diet, but careful implementation is important to avoid nutritional problems that could impact your child’s health and growth.

Are there medications for ASD?

There’s currently no medication for the core symptoms of ASD, although this is an area of active research at Boston Children’s. Medications are, however, often used successfully for symptoms related to ASD, such as irritability, hyperactivity or attention problems, anxiety, or seizures. Often, once these related symptoms are treated, your child can make more progress with behavioral therapies for ASD itself.

Ongoing care

As your child grows up, the therapies that he needs will probably change. After the initial assessment, we will follow your child closely to:

  • see how he is developing and how his therapies are working for him
  • make new recommendations for education and therapy
  • watch for any related medical concerns
  • discuss any questions and concerns you may have

Our goal is for every child with ASD to lead an active and happy life.