To Your Health: NLM update Transcript

New autism genetic

diagnostic tests: 11/09/2015

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Greetings from the National Library of Medicine and MedlinePlus.gov

Regards to all our listeners!

I'm Rob Logan, Ph.D., senior staff, U.S. National Library of Medicine (NLM).

Here is what's new this week in To Your Health, a consumer health oriented podcast from NLM, that helps you use MedlinePlus to follow up on weekly topics.

Genetic testing technologies could help identify genetic mutations related to autism spectrum disorder (or ASD) in children, suggest a pioneering study and editorial recently published in theJournal of the American Medical Association.

The Canadian study used two newer technologies (called chromosomal microarray analysis and whole-exome sequencing) to identify the number of 258 children with ASD with a genetic mutation. Combining both technologies, the study was able to better find a higher percentage of children with genetic identifiers than previous research.

The study's 34 authors conclude the findings suggest a genetic analysis using newer techniques increases the capacity to foster more precise ASD diagnoses, better understand an ASD child's overall medical condition, and possibly detect ASD susceptibility.

The study's authors add (and we quote): 'replicated in additional populations, these findings may inform appropriate selection of molecular diagnostic testing for children affected by ASD' (end of quote).

An editorial that accompanies the study explains diagnostic uncertainty remains one of the core challenges in identifying and treating ASD. Judith Miles M.D., the editorial's author, notes the study's results provide clearer guidance than previously available for clinicians to find underlying genetic identifiers and possibly enhance more personalized care.

Dr. Miles, who is from the University of Missouri-Columbia, adds the study's findings provide (and we quote) 'a substantial enhancement' (end of quote) compared to previous diagnostic tools.

Dr. Miles writes (and we quote): 'It is incontrovertible that precise diagnoses pave the pay to better medical care, improved surveillance, better functional outcomes, and informed genetic counseling often with the possibility of prenatal or preimplantation diagnosis' (end of quote).

Dr. Miles concludes it seems possible that the tools used in the study may become a first-tier ASD test for many — if not for all — ASD diagnoses in the future.

MedlinePlus.gov's autism spectrum disorder (ASD) health topic page explains ASD is called a spectrum disorder because patients can have a range of symptoms — and its causes remain unknown. As a result, MedlinePlus.gov's ASD health topic page notes there is no one standard treatment for ASD. However, MedlinePlus.gov's ASD health topic page notes genes and environmental factors are thought to play important roles in causing ASD.

The U.S. Centers for Disease Controls and Prevention (the CDC) has a link to a helpful website on ASD screening and diagnosis within the 'diagnosis/symptoms' section of MedlinePlus.gov's ASD health topic page. The CDC provides a good overview of ASD's symptoms and signs also within the 'diagnosis/symptoms' section.

To help young people with autism, the Nemours Foundation, provides links to well-written, evidence-based autism information in both the 'children' and 'teenagers' section of MedlinePlus.gov's ASD health topic page.

MedlinePlus.gov's ASD health topic page additionally provides links to the latest pertinent journal research articles, which are available in the 'journal articles' section. Links to clinical trials that may be occurring in your area are available in the 'clinical trials' section of MedlinePlus.gov's ASD health topic page. You also can sign up to receive updates about ASD as they become available on MedlinePlus.gov.

To find MedlinePlus.gov's ASD health topic page type 'autism' in the search box on MedlinePlus.gov's home page, then, click on 'autism spectrum disorder (National Library of Medicine).' MedlinePlus.gov also has health topic pages devoted to child behavior disorders.

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It was nice to be with you. Please join us here next week and here's to your health!To Your Health: NLM update transcript - New autism genetic diagnostic tests