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.
Phelan-McDermid Fundraising Toolkit
2023 Fundraising Toolkit. Fundraising is the major lifeline of our organization. We rely on the generosity of donors, like you, to provide the funds necessary to achieve our goals of helping families, facilitating research, and creating awareness of Phelan-McDermid syndrome (PMS).
Voice of the Patient Report
This EL-PFDD meeting was modeled after the work of the FDA’s Patient Focused Drug Development (PFDD) initiative. PFDD is a systematic way of gathering patient perspectives on their condition and on available treatments. The information gathered at the meeting is presented in this Voice of the Patient report, a high-level summary of the perspectives generously shared by the families and caregivers of individuals living with PMS, who participated in the November 8, 2022, EL-PFDD meeting. The report also includes selected comments that were submitted through an online portal.
Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome
In 2001, Katy Phelan and Heather McDermid described the clinical and cytogenetic characteristics of 37 people with a 22q13.3 deletion(Phelan et al., 2001). The 22q13.3 deletion syndrome was since then referred to as Phelan-McDermid syndrome (PMS) (OMIM#606232).Later on, the deletion of a single gene, i.e. SHANK3 (OMIM#606230),was found to be responsible for the majority of the clinical features.Individuals with a pathogenic variant in SHANK3 appeared to have a similar phenotype, that is also referred to as Phelan-McDermid syndrome (Schon ¨ et al., 2023, this issue; Vitrac et al., 2023, this issue). Sincenot all individuals referred to in the original publication of Phelan and McDermid may have had a deletion 22q13.3 including SHANK3 there has been some debate on how the phenotype should be called whenSHANK3 is not involved. Consequently, a distinction in different types ofPhelan-McDermid syndrome has been proposed: PMS SHANK3-relatedand PMS SHANK3-unrelated (Phelan et al., 2022).