Summary of "Shank3 and Phelan-McDermid Syndrome" Mini-symposium

By Andy Mitz and Paulina Rychenkova

Philadelphia, PA

May 19, 2010

The meeting took place on May 19, 2010, 1-5 pm at the Center for Autism Research at the Children's Hospital of Philadelphia (CHOP).

It was organized by Dr. Joseph Buxbaum (Director, Seaver Autism Center, Mount Sinai School of Medicine), who invited the presenters and coordinated schedule; by Dr. Robert Schultz (Director, Center for Autism Research, CHOP) who provided meeting facilities, and by the Phelan-McDermid Syndrome Foundation who encouraged participation from affected families and sponsored the post-meeting dinner for families, speakers and VIPs.

READ MORE...

___________________________________________

OUR FOUNDATION HAS A NEW NAME

By Nick Assendelft

You’ve probably noticed the name at the top of our new homepage: Phelan-McDermid Syndrome Foundation. New name. Same mission. Same dedication to providing all of you with support and information.

The Board of Directors has voted to eliminate “22Q13 Deletion” from our Foundation’s name to avoid confusion among families, doctors and others. The name of the Syndrome, however, will still be known by both names: 22Q13 Deletion Syndrome or Phelan-McDermid Syndrome, which are both accepted in the medical community.

The reason for the change is simple: Research is pointing to SHANK3 as the critical gene that causes 22q13 Deletion/Phelan-McDermid Syndrome. Up until recently, it was thought a portion of SHANK3 had to be missing to cause someone to be affected by the syndrome (thus, the name 22Q13 deletion). Now, scientists are finding that if SHANK3 is merely damaged – and not missing – the diagnosis would still likely be 22Q13 Deletion/Phelan-McDermid Syndrome.

“This change won’t affect our focus on those affected by Phelan-McDermid Syndrome,” said Sue Lomas, president of the Board of Directors. “By changing our name we’re opening doors for others to join our wonderful support network of families and eliminating the confusion that both names at times created.”

Our Foundation will still focus on helping the more than 500 families affected by Phelan-McDermid Syndrome. Through the Web site, quarterly newsletter, Twitter feed, Facebook pages, and biennial conference, we’ll endeavor to be the primary source for information on 22Q13 Syndrome/Phelan-McDermid Syndrome. The goals won’t change: Support, research and outreach.

If you have any questions about the Foundation’s name change, please contact Sue at This e-mail address is being protected from spambots. You need JavaScript enabled to view it or any other Board member with your thoughts or questions.

And take the new site for a test drive. It's still a work in progress, so you'll find some areas that are still under construction. But we think you'll find it easy-to-use and full of good information. As always, let us know what you think.