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Speech and Hearing Perspectives

A Better Understanding?

Published January 21, 2016 10:38 AM by Speech Merion

By Tamer Abouras

The degree to which something is understood goes a long way toward how well it is handled. The presence of a cough, for instance, is generally treated as a bad health symptom, but if you had been diagnosed with pneumonia, you’d understand that a cough is actually preferable. (Not having one implies that the congestion in your lungs is hard, solid and immovable).

The same is true about autism. As illustrated last week in this blog, the way in which presidential candidates and policymakers discuss the disorder speaks to just how different the landscape is now, as opposed to fewer than ten years ago. In lieu of a cure, there’s an emphasis on support and training professionals and volunteers to properly care for those who are on the spectrum.

SEE ALSO: Functional Communication

While this is an obviously positive development, the shift from treating autism like a disease to viewing it rightfully as a communicative disorder has necessarily prompted other questions, such as exactly what neurological markers are indicative of it and if there’s any way to predict whether or not a child will be born with these difficulties. While this sort of “mapping” can be considered somewhat controversial in and of itself, studies such as this most recent one ( from the Children’s Hospital of Philadelphia (CHOP) are likely to continue.

According to a report in Genetic Engineering & Biotechnology News, the CHOP researchers said, “ … they identified a gene that looks like it plays a significant role in raising a person's risk of having more severe subtypes of autism that co-occur with other genetic diseases, such as the chromosomal disorder 22q11.2 deletion syndrome. Variations in this gene, RANBP1, may disrupt brain signaling in different neuropsychiatric conditions, a finding that could open new research opportunities for treatment for multiple neurological diseases, according to the scientists.”

"The gene we investigated may function as an important factor, not only in forms of autism, but also in other neuropsychiatric conditions," said study leader Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at CHOP. "We have uncovered underlying molecular defects across disease categories, suggesting that these biological networks are good targets for future research."

The full text of the paper, entitled “The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder," is published in Scientific Reports.

Per the report, “The team compared DNA from 539 children with autism spectrum disorder (ASD) to DNA from 75 children with 22q11.2 deletion syndrome, 25 of whom also had ASD. The researchers searched for copy number variations (CNVs) within a particular gene network, the metabotropic glutamate receptor (mGluR) pathway affecting the neurotransmitter glutamate.”

ADVANCE Opinion Poll: Are too many children being diagnosed with auditory processing disorders?

As far as the conclusions to be drawn from their work, Hakonarson said, “Based on this study, we propose that the RANBP1 gene is a significant genetic factor in both ASD and 22q.11.2 deletion syndrome.” Furthermore, when the mGluR network is disrupted at multiple points, it predisposes individuals to a more severe disease." Numerous environmental studies also support a role for RANBP1 in autism.”

Hakonarson added that he believes further research will reveal more connections and interactions “ … among genetic and environmental factors that increase a child's risk of developing ASD."

While the research is no doubt fascinating and could lead to another potentially seismic shift in our understanding of Autism Spectrum Disorder, it’s important to remember that “ … drug development for complex disease,” which Hakonarson alludes to, presupposes there’s something wrong that needs to be fixed.

Families who have a loved one on the spectrum, as well as their caregivers, might disagree with that premise — rather than a fix, how about acceptance, love and support?

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posted by Speech Merion


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