ASD Diagnosis

by Justin Schwartz, MD

category: Category: Autism

Autism is a complex condition mainly defined by a person’s difficulties with developing social and communication skills. People with autism often also have unusual behaviors, intense interests, and strong sensory likes and dislikes. Autism is known as a spectrum because each child and adult is unique in their own strengths and areas of difficulty. This can make autism quite challenging to diagnose. But the earlier we can identify autism or any developmental delay, the faster we can get help, and the better the child will do!

You are the expert in your child

The first step in the process of identifying autism always begins with you, the parent or caregiver. Doctors, psychologists, and other care providers often depend on your observations of your child in order to get a clear picture of how your child acts and behaves. Every caregiver should know what to look for as signs of possible autism. To help, the Centers for Disease Control (CDC) made the “Learn the Signs, Act Early” program to teach parents and caregivers about typical development and what may be signs of autism, and what to do if you have concerns.

Your child’s doctor will also be following your child’s development at every well child check. At certain ages, such as 9 months, 18 months, and 24 to 30 months, your doctor will often do developmental screening, where he or she will ask you more in-depth questions about how your child is developing. Your answers will help your doctor know whether your child is on track or whether there are concerns. When your child is 18 months and older, some questions will be asking specifically about signs of autism. However, if you have concerns at other times, always let your child’s doctor , or ask to schedule an appointment specifically to talk about your child’s development.

Take immediate action

As soon as you or your doctor has identified concerns about your child’s development, you should take action. If your child is young enough, the first thing you or your child’s doctor should do is contact your state’s Early Intervention program. Early Intervention is a program that sends therapists to your home to work with your child on improving his or her areas of difficulty. Your child can receive these services up until his or her third birthday. Ask your child’s doctor if you need more information about your state’s Early Intervention program. Remember, you can always start the Early Intervention process yourself! No doctor referral is needed.

If your child is older (or about to be older) than 3, you can contact your public school system and request in writing if possible that your child be evaluated for services, even if your child is not yet kindergarten age. Your child can be seen by a psychologist, speech pathologist, occupational therapist, physical therapist, or other providers through the school system to see if he or she can get services through an Individualized Education Plan (IEP).

If your child has speech delays or difficulties, you should also have your child’s hearing evaluated by a hearing specialist (audiologist) as soon as possible. Hearing loss should not be missed!

Making the diagnosis

Early Intervention and school evaluations can identify developmental delays and provide services, but they often cannot make diagnoses. A formal diagnosis of autism is important for planning what the best services for your child should be. Therefore, the next step is to have your child evaluated in a diagnostic clinic. A diagnostic clinic may be at a hospital or health care center, or at a private clinic or facility that specializes in child development. Many of these clinics can have long waiting lists, so when you or your pediatrician first identifies concerns for autism, you should get a referral to a diagnostic clinic as soon as possible.

Your child may see one or a combination of different types of providers, including developmental pediatricians, psychologists, speech pathologists, occupational therapists, hearing specialists (audiologists), and others. A formal diagnostic evaluation may include the following:

  • Developmental or cognitive testing (how well your child solves problems and figures out the world)
  • Functional skills assessment (how well your child uses his or her skills to achieve everyday tasks and goals)
  • Speech and language testing
  • Motor skills testing
  • Social skills and play assessment
  • Hearing or vision assessment
  • Observations of your child in other settings: this can be done through direct observation, or by gathering reports from you and your child’s teachers or caregivers

After your child is evaluated, you will meet with the clinic team to discuss diagnosis and recommendations. You should also get a full written report of the evaluation results, which you can share with your child’s school or service providers. A thorough evaluation should tell you whether your child meets official criteria for a diagnosis of autism, or whether your child’s developmental delays are best explained by other diagnoses.

Other evaluations

We are learning more about autism and developmental delays every day. Unfortunately, there is no single blood test that can tell us whether your child has autism. However, blood tests may be useful to shed more light on any biological reasons for developmental delay. There are many genetic conditions that are linked with autism. Your child’s doctor may order blood tests to look at your child’s DNA to see if it offers any clues, which are important for future medical monitoring as well as family counselling. Blood tests may be useful to tell us if your child has nutritional deficiencies or excesses, especially if your child is a picky eater like many children with autism can be. Children with a head size that is larger or smaller than most children, or children with movement or nerve problems may be referred a brain scan to look at the structure of the brain. Your child may be referred to other specialists for targeted evaluations of any other areas of difficulty your child may have, such as sleep, digestion, seizures, or other medical problems.

Planning for the future

As with any child, your child’s future depends on a coordinated team of providers, led by you in the captain’s chair. However, for many parents of children with autism, it is hard to figure out where to start. Your child’s pediatrician and health care team, local organizations such as your local chapter of the Autism Society, autism support networks, Family Voices, your local Arc, as well as national and international organizations such as KultureCity, can all serve as valuable partners along the way. All children are moving targets, and it truly takes a village to anticipate and respond to every child’s needs. Together we can all work to ensure a bright future for children with autism, who in turn can continue be a part of a brighter future for all.