Findings of a Fragile X Syndrome Study Pave the Way for Autism Treatments

In a recent study published in the online journal PLoS One, a team of researchers at UNC School of Medicine found that available medications for Fragile X syndrome only moderately do their job. That is, these medicines, which attempt to alleviate most symptoms of the syndrome, really only lessen some. Fragile X syndrome is the result of a single mutated gene called FMR1, causes a weakened connection in the brain, leading to learning disabilities, behavioral issues, and sensitivities. This study is relevant to the autism field because a third of those diagnosed with Fragile X syndrome are eventually diagnosed with Autism Spectrum Disorder as well.


The study, led by pharmacologist C.J. Malanga, MD, PhD, used a mouse study to look at three different medicines prescribed for those with Fragile X syndrome. The results showed that each medicine affected a different kind of neurotransmitter receptor relevant to Fragile X, suggesting that depending on which medicine one is prescribed will determine the specific neurotransmitter receptor that will be affected. The results also suggested there were major differences in how sensitive the mice were to each drug tested,


“Turns out, based on our study and a previous study we did with my UNC colleague Ben Philpot, that Fragile X mice and Angelman Syndrome mice are very different. And how the same pharmaceuticals act in these mouse models of Autism Spectrum Disorder is very different…Fragile X kids likely have very different sensitivities to prescribed drugs than do other kids with different biological causes of autism.”[i]


Further studies of this nature can hopefully pinpoint which types of medications can successfully alleviate symptoms of both Fragile X syndrome and autism.

[i] “Science Daily” Child neurologist finds potential route to better treatments for Fragile X, Autism. 23 Oct 2013. Web. <>

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