Jaguar Gene Therapy Community Letter & FAQ *UPDATED 11/5/24*
Jaguar has released an updated community letter and FAQ document that provides new details about the JAG201 clinical study. This resource…
About Phelan-McDermid Syndrome – One Page Summary
This one-page information sheet provides a brief overview of Phelan-McDermid syndrome, including its genetics, symptoms, treatments, and how the Phelan-McDermid Syndrome…
Phenome‑wide profiling identifies genotype‑phenotype associations in Phelan‑McDermid syndrome
Phelan-McDermid syndrome is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic features. Here, we conducted genotype-phenotype correlation analyses using the PMS International Registry, a family-driven registry that compiles clinical data in the form of family-reported outcomes and family-sourced genetic test results.
Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome
The primary purpose of the study is to evaluate the effect of lithium at 12 weeks (capsules dosed at 62.5mg, 125mg,…
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…
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…
European Consensus recommendations on sleeping problems in Phelan-McDermid syndrome
Early onset sleep problems and disorders are very common in individuals with Phelan-McDermid Syndrome (PMS) with rates of up to 90%. These sleep problems and disorders cannot be taken lightly. Not only do they have a major impact on the health, behaviour, functioning and learning opportunities of affected individuals, they can also have detrimental effects on the well-being and resilience of parents and caregivers, ultimately affecting the physical health, mental health and well-being of the whole social system.
European Consensus recommendations on organization of care for individuals with Phelan- McDermid syndrome
The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS.
European Consensus recommendations on mental health issues in Phelan-McDermid syndrome
Phelan-McDermid syndrome is a rare genetic condition caused by a deletion encompassing the 22q13.3 region ora pathogenic variant of the gene SHANK3. The clinical presentation is variable, but main characteristics includeglobal developmental delay/intellectual disability (ID), marked speech impairment or delay, along with otherfeatures like hypotonia and somatic or psychiatric comorbidities.
European Consensus recommendations on lymphedema in Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by deletions 22q13.3 or pathogenic variants in the SHANK3 gene. Lymphedema can be a clinical feature in 10-25% of individuals with PMS due to a deletion 22q13.3, but is not observed in those with a SHANK3 variant. This paper forms a part of the European consensus guideline for PMS and focuses on what is known regarding lymphedema in PMS in order to present clinical recommendations.