ArticleMethodsX2026
Knowledge, support, and networking for Phelan-McDermid syndrome: a study protocol.
Article in MethodsX, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
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 online interviews will explore caregiving experiences, unmet needs, barriers to care, coping strategies, and social isolation. Insights will guide the creation of the first Italian PMS registry, capturing longitudinal clinical, socio-demographic, and caregiver-related data. Expected Results & Conclusions: The project will generate novel evidence on caregiver needs, develop the first national PMS registry, and produce a service map to support equitable, coordinated PMS care and a stronger national caregiver network in Italy.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.