A Frank Assessment of SHANK: Impacts of Pathogenic Variations in SHANK3 on Preclinical Models of Phelan McDermid Syndrome.
Vic Lin, Samantha M Matta, Julia E Dallman and 5 others
PMID 40874391WHAT IT FOUND
SHANK3 mouse models show social, vocalization, repetitive, anxiety-like, motor and brain changes linked to Phelan McDermid Syndrome.
No human therapy outcomes are reported.
Key findings
01Deficits in social interaction were observed in 7 of the 10 models investigated using the three-chambered social test.
02Vocalization deficits were found in 5 of the 10 models tested with ultrasonic vocalizations.
03The review concluded that the Shank3B -/- and Shank3 ΔC/ΔC models accurately recapitulated a broad range of clinical observations in PMS.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The paper reviews animal models, not patients, so it cannot tell therapists whether a treatment helps people with PMS. PMS is a heterozygous disorder, but the review mainly examined homozygous mouse models, so the animal phenotype may not match patients. Findings varied across studies because of differences in testing, housing, age and genetic background, and some studies of the same model disagreed. Many studies used only male animals, and females often showed weaker or no phenotypes. Gastrointestinal and aggressive traits were noted as less explored in the models.
Declared interests
The article states the authors have nothing to report.
The easy way to misread this
Do not read the mouse vocalization findings as evidence that speech therapy works. This paper reviews animal models and reports no human treatment outcomes.
Summarised by AI from the full paper, without a clinician reviewing it. Check it against the source before it changes what you do. Read it on PubMed →