PMSF News

The SCERTS® Model: A Framework for Working with Your PMS Child

By Jackie Jacobs, Family Engagement Specialist If you are not familiar with the SCERTS® Model you’ll want to join us for our March webinar. Parents of children with Phelan-McDermid Syndrome are concerned with their child’s ability to engage in meaningful communication, to express their emotional state, to communicate their wants and needs, and to process sensory stimuli in different settings. [...]

A Conversation with Ronni Blumenthal

On the very first episode of the PMSF Pathways Podcast, you’ll meet Ronni Blumenthal, the Executive Director of the Phelan McDermid Syndrome Foundation. Ronni has been in this role since January of 2018 and has spent over a year becoming familiar with some of our families, working on new family support initiatives, and even attending the 2018 International Family Conference. […]

PMSF collaborates with Heterogenous registry

By Ronni Blumenthal, Executive Director We recently had an opportunity to spend some time chatting with Patrick Short, CEO of Heterogeneous, based in the UK. We invited him to explain his company and their mission to our families. We look forward to continued discussions about how we can collaborate. We encourage everyone who is ready to send their information to Heterogeneous also take [...]

PMSF leads coalition to increase research

By Mark Vieth PMSF Legislative Advocacy Consultant/Sr. Vice President, Cavarrochi Ruscio Dennis Associates Gastrointestinal (GI) symptoms –such as constipation and reflux -- are one of the top quality of life concerns for individuals with Phelan-McDermid Syndrome (PMS).  To date, little research has been conducted at that National Institutes of Health (NIH) on GI complications for PMS-diagnosed individuals, and for this [...]

Phelan-McDermid Syndrome families inspire zebrafish research study

By Geraldine Bliss PMSF Board Member, Parent If you attended the 2016 or 2018 McPosium, you might remember meeting two young investigators, David James and Robert Kozol, and their mentor, Dr. Julia Dallman from the University of Miami at Coral Gables.  When they attended the 2016 McPosium, they had recently published a paper on a SHANK3 knockdown zebrafish.  Inspired by the stories [...]
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