Este diagrama identifica as áreas de especialidades médicas que podem ser úteis na avaliação de uma pessoa diagnosticada com a Síndrome de Phelan-McDermid (PMS), as condições que podem estar presentes, os exames que podem ajudar no diagnóstico e a abordagem multidisciplinar.
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.
The Inaugural Meeting of the Consortium for Autism, Genetic Neurodevelopmental Disorders, and Digestive Diseases (CANDID) was held in 2022 to gain…
The Phelan-McDermid syndrome community has experienced profound grief and concern over the deaths of some of our beloved children and adults.…
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.
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.
Caring for emotional and physical health is critical for caregivers. These mental health support resource links were provided by Kiley Richards,…
The objective of these updated clinical management guidelines was to: (1) reflect the latest in knowledge in PMS and (2) provide…
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.
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.
