Contact Information
Available for logged-in reporters only
Newswise Some of the genetic diseases that can cause autism spectrum disorder (ASD) and intellectual disability (ID) are so rare that even physicians who specialize in treating them cant be certain they have seen every possible symptom.
Thats a problem for those clinicians, and it also makes it difficult to design interventions in hopes of improving the lives of people who live with the diseases.
But a new nationwide effort, the Developmental Synaptopathies Consortium (DSC), which includes Rush and other top medical centers, is seeking to change that. The DSC will link families and specialists scattered across the country in a study that could provide solid pictures of three rare diseases that, among other devastating effects, can cause ASD and ID.
The DSC will carry out the five-year study at 10 medical centers, enlisting a total of 330 children ages 3 to 21 to develop a natural history of the progression of the diseases tuberous sclerosis complex, Phelan-McDermid Syndrome and PTEN Hamartoma Tumor Syndrome. These three rare genetic diseases all disrupt the formation of synapses in the brain.
Rush Pediatric Neurologist Dr. Elizabeth Berry-Kravis and Clinical Psychologist Latha Soorya,PhD, will be co-investigators in the study at Rush.. The National Institutes of Health has pledged $6 million to the consortium through its Rare Diseases Clinical Research Network (RDCRN), and will also participate as a member. Dr. Mustafa Sahin, at Boston Childrens Hospital, will serve as the consortiums director.
The study will ask, What would a group of 330 patients look like as the years go by? We will be able to see the trajectory of these diseases, says Berry-Kravis.
As drugs to combat the conditions become available and some are already in the pipeline a new question will be added, Would the cohort look different with a drug [that addresses the disease]? The long-term hope is to come up with a treatment, . Berry-Kravis says.
ASD has many causes, only some of which are known at this point, but genetics is key. Hundreds of genes in the human body can mutate in ways that can contribute to ASD, a condition that presents in varying degrees of severity. ASDs two defining characteristics are difficulties with social interaction, a tendency to engage in repetitive behaviors and restricted interests. Research has shown that environmental factors probably also contribute.
Go here to see the original:
Autism and Intellectual Disability Studied in Quest for New Treatment Approaches