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? Are social communication abilities different across rare genetic disorders? What about sleep? We completed two different spreadsheets which combine questions (not data) that are asked by each registry.
Phase 1 includes: demographics, developmental history, pregnancy history and neurological history. You can find it HERE:
In Phase 2, we looked at restrictive and repetitive behaviors and psychiatric diagnoses, sleep habits and challenges, sensory-motor function, cognitive and social communication abilities, and Quality of Life across registry projects. Again, We do not include the data in this spreadsheet, only common core questions. The spreadsheet can be downloaded HERE:
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
Want the data? Here are the contacts for the different registries:
3q29 Registry: Jennifer Mulle (firstname.lastname@example.org)
Angelman Syndrome: Anne Wheeler (email@example.com)
Autism Treatment Network: Angie Fedele (firstname.lastname@example.org)
CDKL5, International Foundation for CDKL5 Research: Heidi Grabenstatter (email@example.com)
CNV Commission: firstname.lastname@example.org
Dup15q Alliance: Vanessa Vogel-Farley (email@example.com)
National Fragile X Foundation: Amie Milunovich (firstname.lastname@example.org)
Interactive Autism Network: Sign into SFARI BASE: https://www.sfari.org/resource/sfari-base
International Rett Syndrome Foundation: (email@example.com)
Phelan-McDermid Syndrome Foundation: Kate Still (firstname.lastname@example.org)
Simons Searchlight: SFARI Collections Team (email@example.com)
Simons SPARK: Sign into SFARI BASE: https://www.sfari.org/resource/sfari-base
Tuberous Sclerosis Alliance: Jo Ann Nakagawa (firstname.lastname@example.org)
If you have any questions, please email Alycia Halladay (email@example.com).