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Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Phelan-McDermid Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Electroacupuncture Improves Selected Autism-Like Behaviors and Modulates Striatal Neuronal Plasticity in Shank3B Knockout Mice
Zhili Yu et al., Acupuncture & Electro-Therapeutics Research (13 October 2026)
https://doi.org/10.1177/03601293261496908
- 2.
Behavioral phenotypes and neuronal biomarkers in F1 mutant macaque model of SHANK3-associated autism spectrum disorders.
Jiang Minqing et al., Neuron (7 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42127910/
- 3.
27.3 Mania vs Agitated Catatonia, Plus Treatment Complications in Phelan-McDermid Syndrome
Josiah Cox, Journal of the American Academy of Child & Adolescent Psychiatry (1 October 2026)
https://doi.org/10.1016/j.jaac.2026.07.213
- 4.
6.2 Catatonia as a Regression Syndrome: Insights From Phelan-McDermid Syndrome
Alexander Kolevzon, Journal of the American Academy of Child & Adolescent Psychiatry (1 October 2026)
https://doi.org/10.1016/j.jaac.2026.07.935
- 5.
2.18 Serious Neuropsychiatric Illness in Phelan-McDermid Syndrome Includes Symptoms of Affective Disorder, Psychosis, and Catatonia
Teresa M. Kohlenberg et al., Journal of the American Academy of Child & Adolescent Psychiatry (1 October 2026)
https://doi.org/10.1016/j.jaac.2026.08.128
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.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Introduction SHANK3 mutations are associated with striatal dysfunction in autism spectrum disorder (ASD). We evaluated the effects of electroacupuncture (EA) on autism-like behaviors and striatal neuronal plasticity in Shank3B knockout (Shank3B−/−) mice. Methods Wild-type mice served as controls, and Shank3B−/− mice were assigned to untreated model, EA, or sham EA groups. Behavioral outcomes were assessed in eight mice per group. Sparse neuronal labeling and Western blotting used separate cohorts of six mice per group. Dendritic morphology and spine measures were analyzed at the mouse level, and Sholl analysis accounted for repeated measurements across radius. Results EA increased open-field total distance and reduced self-grooming versus untreated Shank3B−/− mice. Three-chamber analysis supported sociability differences, whereas social novelty showed no significant group × target interaction. EA was associated with greater dendritic volume and area and higher total, stubby, mushroom, and filopodial spine densities. The dendritic-area difference was also observed with sham treatment. Sholl analysis showed a significant radius × group interaction, but no EA-versus-model radius-wise comparison remained significant after Holm correction. EA was also associated with altered striatal postsynaptic scaffold protein expression, including increased right-striatal SAP90/PSD95-associated protein 3. Conclusion EA partially rescued selected behavioral deficits in Shank3B−/− mice, reflected by reduced self-grooming, increased open-field activity, and improved sociability, and was associated with striatal structural and postsynaptic scaffold protein changes. These findings support a potential role for EA in modulating behavioral and striatal plasticity-related phenotypes in Shank3B−/− mice.
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. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Phelan-McDermid Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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