Neuren Open-Label Study of Oral NNZ-2591
The purpose of the study is to look at the safety, tolerability, and efficacy of NNZ-2591 in the treatment of children…
2024 PMSF Conference Family Packet
At the RADISSON BLU AT THE MALL OF AMERICA, BLOOMINGTON, MINNESOTA, USA, JULY 17-20, 2024: The PMSF Family Conference is three…
2024 Research RFA – Translational Award
We are seeking grant applications which bridge the gap between promising pilot laboratory data and the development of new therapeutics or…
2024 Research Grant RFA – Shannon O’Boyle Memorial Grant – Neuropsychiatric Illness
The PMSF Board of Directors has established an annual research grant of $100,000 in honor of Shannon O’Boyle and to acknowledge…
2024 Research Grant RFA – Innovation Award
We are seeking highly novel grant applications which explore an understudied area of Phelan-McDermid syndrome research. Successful proposals will open new…
2024 Conference Sessions at a Glance
This event stands as the world's preeminent gathering for Phelan-McDermid families, offering a unique opportunity for direct networking and engaging with pioneering researchers, social interactions, and attending informative sessions with esteemed guest speakers to discuss the pressing concerns and challenges within our community.
2023-2027 PMSF Strategic Framework
As the pre-eminent global organization for families affected by the rare genetic condition Phelan-McDermid syndrome, the Foundation has positioned itself to play a leading role in patient advocacy and family support and driving research breakthroughs.
US Updated consensus guidelines on the management of Phelan–McDermid syndrome
The objective of these updated clinical management guidelines was to: (1) reflect the latest in knowledge in PMS and (2) provide…
Catatonia in neurodevelopmental disorders: assessing catatonic deterioration from baseline
Despite the inclusion of catatonia as a specifier of autism spectrum disorder in DSM-5, we—a team of child and adolescent neuropsychiatrists who specialise in paediatric catatonia and neurodevelopmental disorders—have identified a number of issues with the diagnosis and clinical management of catatonia in our patients.
Catatonia: A Common Cause of Late Regression in Autism
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and restricted interests and behaviors which begin very early in life. In about a quarter of cases, the symptoms emerge about 18–24 months after a period of normal development, a phenomenon commonly described as early regression. However, marked functional decline can also occur in persons with autism after a relatively stable childhood.