Early diagnosis of autism

Dr. Alisa Lipson (biography and disclosures)

What I did before

As a pediatrician who went through residency training in the 1980’s, I had little experience with autism. Once in practice I began to see cases, and had to learn on the spot. In the past I was not in any rush to make a definitive autism diagnosis as there was little to offer affected children.

What changed my practice

Autism rare? Not so now. The current prevalence is a staggering 1 in 68 (1), about four times as common as type 1 diabetes, with a male to female ratio of 5:1. What has also changed dramatically is that effective treatments have been developed, generally one-on one therapies, and are now available to all BC families. Since 2003, eligibility for therapy funding in BC is determined through a rigorous diagnostic process (BCAAN: BC Autism Assessment Network).

It is now recognized that the earlier treatment is started, the better the long term outcome. While randomized controlled trials comparing autism with some type of placebo are actually few, there is considerable evidence from less rigorous studies that treatment works (2,3). Hence it is critical to recognize early signs and refer for definitive testing in young children, so as not to miss opportunities.

Formerly children were typically diagnosed at age 5 or older. The current push is to have the diagnosis in place by ages 2 to 3, and thus to recognize signs emerging even at age 18 months (4.5). Physicians remain the key players and gate-keepers in the referral system for diagnostic evaluation. However, family doctors often do not identify and start the process of assessment, though it is to these physicians that parents will often bring their initial concerns.

Young children with autism – age 18 months to two years—usually will exhibit deficits in development in the realms of communication and social interactions. As they grow and develop, the other signs of restricted, repetitive and unusual behaviours become more evident.

What I do now

1) THINK OF AUTISM in young children with communication delay:

• Think of autism in any child who is not starting to speak by 18 months.
• Start investigations in such children by age 2.
• Consider autism in any child subsequently whose behaviour or mental development (including speech) is not as expected for age.

Development of communication skills is highly complex and the indicators may be subtle. Children with autism may show limited non-verbal communication (ie. Few gestures, limited facial expressions), before they are even expected to speak. However, it is the child’s spoken word that is most anticipated by parents, and easiest to observe and count. No words by 18 months is a red flag. This, coupled with limited non-verbal compensatory communication, suggests autism. Any loss of words or non-verbal communication skills is especially indicative.

2) DO A SCREENING TEST:

Do the MCHAT (Modified Checklist for Autism in Toddlers) screening questionnaire for children with any developmental problem starting at 18 months. Keep using it. It can still be useful at age 4.

Family doctors who use the Rourke Baby Record already have a set of questions about social and communicative behaviour for use at the 18 month visit, questions which elicit some of the clearest autism indicators. Don’t stop asking after that. By age 2 the features will be more evident. Supplement with the MCHAT if there is any concern at all about development. MCHAT is easily downloaded for free (see below), but you must also use the score-sheet to interpret results.

3) LOOK FOR THESE SIGNS:

• Eye contact: Does the child look you in the eye? Look at the parent during interactions, check by looking to see if he is being observed during play. Or does he communicate by hand leading mom without looking up?
• Response to name: does she look up when her name is called?
• Pointing: typical children near the age of 12 months communicate by pointing, regardless of how much spoken language they use; autistic children may not.
• Repetitive, non-imaginative, non-functional play, and odd behaviours: observe such behaviours as spinning wheels of toy cars, piling toys, prolonged inspection of an object, hand flapping, loud squealing, non-communicative jabbering.

4) Consider PARENT CONCERN as a CLINICAL SIGN:

Don’t think you can RULE OUT autism easily in an office visit. Parent concern about social communication and odd behaviours is a clinical sign and red flag, regardless of how the child may seem to you in a brief encounter.

It is often another family member or community professional who may first point out something is amiss; parents soon can see themselves. Even with a first child, parents often have good intuition about what is typical development and what is not. They will present concerns to the physician and listen carefully for the response.

You may be able to RULE IN autism if the history and MCHAT are suggestive and/or the signs are obvious. Don’t be tempted to RULE it OUT, however, because you observe that a child points and makes some eye contact with you.

Hence:

5) ENGAGE the community:

Caregivers who work with the child are sources of objective, detailed information. Community professionals can provide both feedback and intervention.

• Investigate: contact teachers and caregivers for observations.
• Consult the Infant Development Programme (free provincial service providing child development experts who come to the home).
• Refer to speech therapy (and get a hearing test). Get a community health nurse in.
• Encourage attending group programmes such as Strong Start, preschool or part time daycare.

Beware of kids who have no community involvement, live in isolation, and are not developing as expected: you will need to raise the developmental issues with the parents yourself.

Finally,

6) REFER to BCAAN (BC Autism Assessment Network) for an autism assessment.

Refer directly when you think autism is a distinct possibility.

Family doctors can refer directly to BCAAN. Refer to Pediatrics if you are not sure, or wish more information while waiting. There is also a private system whereby parents can pay for the assessment themselves. You and your patients can also consult the ACT-Autism Community Training, a free, provincially funded service providing information by telephone and email. See their website for more information about the assessment process.

Resources

1. BCAAN – BC Autism Assessment Network (for physicians to make a referral) http://www.phsa.ca/AgenciesAndServices/Services/Autism/Autism-Assessment.htm
2. Rourke Baby Record (for physicians and parents) http://www.rourkebabyrecord.ca/
3. ACT-Autism Community Training (for physicians and parents) http://www.actcommunity.ca (comprehensive site in BC for treatment and support)
4. First Signs (for physicians and parents) http://www.firstsigns.org/ (video library, screening tools)
5. MCHAT – Modified Checklist for Autism in Toddlers download (PDF to give to parents to fill out) https://www.m-chat.org/_references/mchatDOTorg.pdf and the follow-up questions: https://www.m-chat.org/_references/M-CHATInterview.pdf, MCHAT test and scoring: http://www.mchatscreen.com/Official_M-CHAT_Website.html or https://www.m-chat.org/.
6. IDP – The Infant Development Program (support for parents) http://www.mcf.gov.bc.ca/spec_needs/idp.htm
7. Autism Navigator (for parents) http://www.autismnavigator.com/whatIsAutism.html (info on early recognition)

References

1. Baio, J. Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2010. Surveillance Summaries; 2014; 63(SS02):1-21 (View)
2. Warren Z., McPheeters M.L., Sathe N., Foss-Feig J.H., Glasser A., Veenstra-VanderWeele J. A Systematic Review of Early Intensive Intervention for Autism Spectrum Disorders. Pediatrics, 2011; 127:E1301-1311. (View with CPSBC or UBC)
3. Anagnostou E., Zwaigenbaum L., Szatmari P., et al. Autism spectrum disorder: advances in evidence-based practice CMAJ April 15, 2014 186: 509-519 (Request from CPSBC or UBC)
4. Johnson C.P., Myers S.M. and the Council on Children with Disabilities, American Academy of Pediatrics. Identification and Evaluation of Children with Autism Spectrum Disorders. Pediatrics, 2007; 120: 1183 -1215. (View)
5. Burrows, K. Early intervention for children with autism (Position Statement, Canadian Pediatric Society). Pediatric Child Health 2004; 9(4):267-70 (View)

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Early diagnosis of autism

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