Genetic investigations in cerebral palsy.
Anna P Basu, Karen Low, Thiloka Ratnaike and 1 others
PMID 39208295WHAT IT FOUND
A genetic cause is found in many children diagnosed with cerebral palsy, especially those with normal MRI scans or worsening symptoms.
Therapists should flag these signs for medical review. A genetic diagnosis does not rule out the cerebral palsy label or its management.
Key findings
01A monogenic genetic variant is identified in 11% to more than 40% of people diagnosed with cerebral palsy.
02Clinical features such as normal brain MRI, progressive symptoms, and movement disorders are strong indicators that a genetic cause is likely.
03If a genetic cause is found, the cerebral palsy diagnosis should remain if the clinical presentation still fits, to ensure access to services and support.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
This is a narrative review, not a systematic review with meta-analysis of all available evidence, so it may reflect author bias in selection. Diagnostic yields vary widely (11-40%) depending on the population studied, making it difficult to give precise probabilities to families. The review discusses genetic testing but does not provide data on how this testing changes therapeutic outcomes or functional gains. Many studies cited have small sample sizes or are from high-income settings, limiting generalizability to global populations.
Declared interests
No specific conflicts of interest are declared in the provided text.
The easy way to misread this
Do not assume that a genetic diagnosis means the child no longer has cerebral palsy or that standard CP management should stop. The review states that the CP label should remain if the clinical presentation is compatible, to ensure access to services. Also, do not assume that a genetic cause excludes environmental injury, as both can co-occur.