Knowledge, support, and networking for Phelan-McDermid syndrome: a study protocol.

ABSTRACT:

Background

Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by deletions in chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Individuals present with intellectual disability, autism-spectrum traits, seizures, gastrointestinal and motor issues, and sleep disturbances, requiring lifelong multidisciplinary care. In Italy, PMS care is fragmented and unevenly distributed, with families often providing intensive home-based support at high personal, financial, and social costs.

Methods

This national participatory Citizen-Science study, conducted with the Italian Phelan-McDermid Syndrome Association (AISPHEM), will engage informal caregivers of individuals with genetically confirmed PMS across Italy. A qualitative phase using semi-structured o

SUBMITTER: Colnaghi L 

PROVIDER: S-EPMC12808528 | biostudies-literature | 2026 Jun

REPOSITORIES: biostudies-literature