How to Get a Diagnosis of Autism

A mother helping her autistic son with his homework.
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The American Academy of Pediatrics' clinical report "Identification and Evaluation of Children with Autism Spectrum Disorders" opens with "Autism spectrum disorders are not rare."

That is quite the understatement to the many parents and health professionals who think that autism has become an epidemic. Unfortunately, many parents and some pediatricians still aren't aware of how to get a child diagnosed with autism.

In addition to routine surveillance for autism at check-ups, the first step typically includes getting your child screened with a formal autism checklist, like the Modified Checklist for Autism in Toddlers (M-CHAT). If your child has a positive screening checklist, then he will likely be sent for a comprehensive autism evaluation, in addition to being signed up for early childhood intervention services and having a hearing test.

Comprehensive Autism Evaluation

Ideally, your child's comprehensive autism evaluation should be done at a clinic that specializes in autism and has a multi-disciplinary team that includes a:

  • child psychiatrist
  • child psychologist
  • speech and language therapist

As a part of this evaluation, children will typically be screened with level 2 autism screening checklists, and have other diagnostic and psychological testing. A diagnosis will typically be made based on the results of this evaluation and follow-up appointments. A parent might also see a developmental pediatrician and/or child neurologist for further evaluation.

Tests for Autism

There is no single cause of autism; therefore, there is no single medical test for autism. For most children diagnosed with autism, all medical tests will be normal, and they will have what is called an "idiopathic" autism spectrum disorder, meaning there is no obvious cause of their autism. However, based on a child's clinical and physical findings, it may sometimes be appropriate to test a child for such conditions as Fragile X syndrome, tuberous sclerosis, Angelman syndrome and Rett syndrome, among others.

Although controversial (it's not clear whether they are necessary), some medical tests for autism include:

  • high-resolution chromosome analysis by G-banding
  • molecular testing for fragile X syndrome
  • targeted FISH studies for 22q deletions or 15q duplications
  • routine electroencephalography (EEG) if you think your child is having seizures
  • prolonged sleep studies (EEG) if you think your child is having seizures
  • MRI (usually not necessary)
  • metabolic studies

If your child is diagnosed with autism, you can talk to your pediatrician, child psychiatrist, developmental pediatrician and neurologist about whether any of these medical tests are necessary.

Some tests, such as metabolic studies, might be especially important if a child has other signs or symptoms, such as seizures, cyclic vomiting, unusual body odors, and lethargy when he has a mild illness.

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Article Sources

  • American Academy of Pediatrics Clinical Report. Identification and Evaluation of Children With Autism Spectrum Disorders. Pediatrics 2007 120: 1183-1215.
  • Kleinman JM. The modified checklist for autism in toddlers: a follow-up study investigating the early detection of autism spectrum disorders. J Autism Dev Disord. 01-MAY-2008; 38(5): 827-39.