First SHANK3-deficient primate model
By Geraldine Bliss, Director, Phelan-McDermid Syndrome Foundation July 28, 2017 Over the last several years there have been many important…
Understanding Ryan
https://youtu.be/XudWvmnDwW4 Jul 24, 2017 Ryan is 1 of only 1500 people to be diagnosed with Phelan-McDermid syndrome. Many underestimate his intelligence due to…
Stanford researcher finds high prevalence of sleep issues in those with PMS
Ninety percent of individuals with Phelan-McDermid Syndrome have sleep disturbances, according to the results of a Stanford University study. However, only 22…
Sammy’s Miracles
We lived in Vienna and Madrid, a bit in London and Zurich, a few months in Milan. We thought we would…
New seizure registry now available for Phelan-McDermid Syndrome families
Twenty-one rare epilepsy organizations have joined forces with the Epilepsy Foundation, Research Triangle Institute, Columbia University and New York University to…
Lithium As a Rescue Therapy…
Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: Case Report Read…
Researchers unravel a link between a genetic mutation and autistic behaviors – and then find a way to undo it.
Scientists at the University at Buffalo have identified the mechanisms behind a genetic mutation that produces certain autistic behaviors in mice,…
Oxytocin sails into trials for Phelan-McDermid syndrome
The hormone oxytocin is proceeding into clinical trials for people with Phelan-McDermid syndrome, researchers revealed yesterday at the 2015 International Meeting for…
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