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Home videos and biomarkers provide pathway for early detection of autism

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Two studies published this week may provide novel pathways towards early detection and diagnosis of autism spectrum disorders (ASD).

The first study published in PLoS One indicates the feasibility of diagnosis of ASD through video analysis. The researchers looked at a random sample of 100 videos posted to YouTube of children between one and 15 years of age. Forty-five of the videos included children diagnosed with ASD and 55 included undiagnosed children. Four non-clinical research assistants were trained to analyze the videos using a standard diagnostic scale, the Autism Diagnostic Observation Schedule (ADOS). Questions on the ADOS range from unusual eye contact, repetitive interests and atypical vocalizations.

The results of this analysis yielded 96.8% accuracy, 94.1% sensitivity, and 100% specificity in identifying children diagnosed with ASD versus undiagnosed children.

While video diagnosis should not replace current standardized diagnostic methods, this may provide a pathway towards earlier and more efficient diagnosis. Currently, clinical diagnosis entails lengthy observations occurring at or around four years of age. The potential for video diagnosis may pave the way for early diagnosis at two years of age or younger. Research has repeatedly demonstrated that behavioral interventions yield the best outcome when initiated at two years of age.

The second study published in the journal Autism provides insight into specific biomarkers as indicators of ASD in infants. The team of scientists looked at the head circumference and the absence of the head tilt reflex as possible biomarkers of ASD or developmental delay in 1,024 infants at their regular four, six and nine-month doctor visits.

An acceleration in head circumference and the absence of head tilt reflex identified the at-risk infants. Of the participants, 15 were identified as at-risk for ASD, 14 of whom were later diagnosed with ASD at age three, and 33 were at-risk for developmental language delay.

This study indicates yet another potential measure to identify early risk factors for ASD and other developmental delays, prompting physicians and clinicians to be aware of which patients are vulnerable to a diagnosis.

Each of these studies, in addition to studies published this year, provide two very different approaches for not only earlier diagnosis, but more efficient and expedient methods of determining which children are at-risk for ASD and other developmental delays.

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