Many members of advocacy organizations representing syndromic forms of autism have collected information from families over time and put this information in an electronic registry. These registries provide information on medical issues, developmental and medical history, the nature of the genetic mutation, parent concerns and unique challenges. This information is crucial to help scientists develop new intervention targets, recruit people for clinical studies and allow clinicians to identify patterns of new symptoms so that they can be treated more effectively.
The members of AGENDA have come together to facilitate research into autism across these single gene forms of autism by sharing their registries and identifying common themes. For example, do infants with autism with a known genetic mutation show certain features earlier? Later? Are there medical issues more common in some forms of autism compared to others? These registries include those from the Dup15q Alliance, FRAXA Research Foundation, Phelan-McDermid Research Foundation, Tuberous Sclerosis Alliance, and the Simons Variation in Individuals Project (Simons VIP).
In addition to combining registry information for syndromic forms of autism, we included two registries with family information from those without a known genetic mutation: the Interactive Autism Network and the Autism Treatment Network. Please note that this spreadsheet condenses questions across only 4 domains, and that many, many more questions are asked of individuals who participate than are reflected here.
Click to download the registries spreadsheet.
We do not include the data in this spreadsheet, only common core questions across four main domains: demographics, developmental history, pregnancy history and neurological or seizure history. The goals of sharing this with you is to first, and most importantly, facilitate research into autism spectrum disorder with known and unknown genetic markers and secondly, to provide recommendations and ideas to newly emerging advocacy organizations that want to set up their own registries. We hope researchers, industry, and other scientists utilize this effort to develop their own research questions and request the data associated with each of these domains for their own analysis using the data use policies of each individual organization.
2017 Patient Registries Meeting
Contacts for Different Registries:
Autism Treatment Network: Angie Fedele (firstname.lastname@example.org)
Dup15q Alliance: Vanessa Vogel-Farley (email@example.com)
FRAXA Research Foundation: Amie Milunovich (firstname.lastname@example.org)
Interactive Autism Network: Alison Marvin (email@example.com)
Phelan-McDermid Syndrome Foundation: Megan O'Boyle (firstname.lastname@example.org)
Simons VIP: SFARI Collections Team (email@example.com)
Tuberous Sclerosis Alliance: Jo Ann Nakagawa (firstname.lastname@example.org)
If you have any questions, please email Alycia Halladay (email@example.com).