It seems that the place where your brain transfers electricity between synapses and how your genes determine how these processes function, are tied to autism in one way or another. There can be genetically driven disturbances in this process that lead to varying levels of autism according to a new study of DNA from approximately 1,000 autistic children and their kin.

Peter S. White, a molecular geneticist and director of the Center for Biomedical Informatics stated:

“This large study is the first to demonstrate a statistically significant connection between genomic variants in autism and both (nerve cell) synaptic function and neurotransmission.”

Entire collections of genes with similar neural roles which, taken as a group, seem to be associated with a greater proportion of autism risk. Searching for links between genetic irregularities and abnormal motor control and/or learning disabilities, the study focused on copy number variations (CNVs) that occur when the number of copies of a particular gene varies from one individual to the next.

About 800 CNVs were identified as exclusive to autistic children. In addition, the CNVs in question tended to be found in genes central to the impaired biological functions that show up in autistic behavior including synapse function, nerve cell communication and brain development.

White continues:

“This suggested to us that there may be many different – possibly even hundreds – of genetic paths to autism, with only a few gene alterations relevant to each individual patient. But if those hundreds of genes have similar roles in the nervous system, the end result may lead to the same diagnosis: an autism spectrum disorder (ASD).”

Different people with autism can have very different symptoms. Health care providers think of autism as a “spectrum” disorder, a group of disorders with similar features. One person may have mild symptoms, while another may have serious symptoms. But they both have an autism spectrum disorder.

Ashley Scott-Van Zeeland, a postdoctoral research fellow at the Scripps Translational Science Institute in San Diego added:

“What this study found is that there are perhaps many autisms. There may be a number of unique or very rare genetic mutations associated with the disorder. But this suggests that they follow a common pathway that leads to autism. So that could mean that instead of the old paradigm of finding one mutated gene or protein and then developing a drug targeting just for that, now we could look for entire pathways involved in autism. And then potentially we could intervene with those processes with new therapeutics.”

Currently autism therapies attempt to lessen the deficits and family distress associated with autism and other autism spectrum disorders , and to increase the quality of life and functional independence of autistic individuals, especially children. No single treatment is best, and treatment is typically tailored to the child’s needs.

Many medications are used to treat problems associated with ASD. More than half of U.S. children diagnosed with ASD are prescribed psychoactive drugs or anticonvulsants, with the most common drug classes being antidepressants, stimulants, and antipsychotics. Aside from antipsychotics, there is scant reliable research about the effectiveness or safety of drug treatments for adolescents and adults with ASD. A person with ASD may respond atypically to medications, the medications can have adverse effects, and no known medication relieves autism’s core symptoms of social and communication impairments.

Source: Molecular Psychiatry

Written by Sy Kraft