Phelan-McDermid Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 10 June 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Knowledge, support, and networking for Phelan-McDermid syndrome: a study protocol.
Colnaghi Luca et al. — MethodsX (1 June 2026)
https://pubmed.ncbi.nlm.nih.gov/41551253/
- 2.
The effects of oxytocin on social behavior and eye gaze: Insights from dog-human partnership.
Yuan Siqi et al. — Neuroscience and biobehavioral reviews (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41690434/
- 3.
SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study.
Pagano Jessica et al. — Translational psychiatry (24 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41876457/
- 4.
Remote Language Assessment in School-Age Children With Phelan-McDermid Syndrome and Genotype-Phenotype Correlation.
Quadri-Valverde Sarah et al. — American journal of medical genetics. Part A (17 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41845542/
- 5.
Hyoscyamine Ameliorates Repetitive Behavior in NLG1 and SHANK3 Deficient-Mice.
Lv Dandan et al. — Neuroscience bulletin (12 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41820765/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Phelan-McDermid Syndrome
Phelan-McDermid syndrome is caused by deletion or mutation of the SHANK3 gene on chromosome 22q13, causing intellectual disability, absent or delayed speech, hypotonia, and autism spectrum features. Diagnosis rates have increased significantly with genetic testing. SHANK3-targeted therapies are under investigation.
Most Recent Research
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.
Common Questions
What is Phelan-McDermid Syndrome?
Phelan-McDermid syndrome is caused by deletion or mutation of the SHANK3 gene on chromosome 22q13, causing intellectual disability, absent or delayed speech, hypotonia, and autism spectrum features. Diagnosis rates have increased significantly with genetic testing. SHANK3-targeted therapies are under investigation.
How many clinical trials are available for Phelan-McDermid Syndrome?
RareWays currently indexes 15 clinical trials for Phelan-McDermid Syndrome, of which 3 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Phelan-McDermid Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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