A major roadblock to our understanding of autism is our lack of known biological markers for this condition. Biological markers for a condition such as autism can include gene alterations and other measurable biochemical changes in the cells and tissue of those affected. The discovery of such markers is a tremendous boon as they can guide research into the causes and treatments of autism. Indeed, these markers can themselves become targets for interventions.
In the search for autism biological markers, there is an exciting lead in a small duplication of a DNA segment associated with a rare neurodevelopmental condition with similarities to autism. Chromosome 15q duplication syndrome (“dup15q,” for short) demonstrates symptoms similar to that of autism, including developmental delays in speech, language and thinking, as well as challenges in behavior and sensory processing. At present, around 3% to 5% of individuals with autism spectrum disorder (ASD) have dup15q. In other words, they display a “linkage” between these two distinct conditions. By studying the biomarker for dup15q syndrome—that is, the duplicated segment of chromosome 15—researchers can gain key insights into both conditions.
Last month, the Chromosome 15q Duplication Syndrome Advocacy group (IDEAS) (http://www.dup15q.org/) held its annual meeting in Philadelphia. Of particular focus was the frequency with which dup15q patients also experience seizures. This co-diagnosis of epilepsy is of keen interest to autism researchers because the prevalence of epilepsy is likewise elevated among people with autism.
Among the presenters at the conference, Dr. Jerzy Weigel, of the New York State Institute for Basic Research in Developmental Disabilities, discussed neurological structural changes found in dup15q brains. This unique and important research was accomplished through the donation of post-mortem brains of dup15q individuals by the Autism Tissue Program (ATP). By studying brain tissue directly, Dr. Weigel has shown that there are many specific microscopic changes within the brain of these individuals. The next exciting step is for researchers to discover how these tissue changes affect an individual with dup15q and how they may contribute to epilepsy. Such findings can further our understating of not only dup15q syndrome but also autism and epilepsy.
Autism Speaks and the Autism Tissue Program recognize the strong scientific links between autism and autism-associated disorders such as dup15q and epilepsy. As such, your donations (of time, funding, and participation) are supporting efforts to foster promising collaboration between disciplines that, in turn, can increase our understanding of autism and speed the discovery of new avenues for its prevention and treatment. A sincere thanks for your support. We’d love to hear your thoughts.