Genetic testing in individuals with cerebral palsy.
Halie J May, Jennifer A Fasheun, Jennifer M Bain and 6 others
PMID 34114234WHAT IT FOUND
Whole-exome sequencing found no significant difference in genetic diagnosis rates between people with CP and known risk factors (10/122; 8.20%) and those without (4/28; 14.3%).
Trio testing had a higher diagnostic yield.
Key findings
01Genetic diagnosis rates were not significantly different between participants with identified CP risk factors (10/122; 8.20%) and participants without identified risk factors (4/28; 14.3%); Fisher's exact p=0.298.
02Trio analysis had a diagnostic yield of 12/46 (26.1%) compared with 2/104 (1.92%) for non-trio analysis.
03Global developmental delay or intellectual disability was found in 12/14 probands with genetic diagnoses and 76/150 in the whole cohort, but the association did not reach the multiple-comparison threshold.
STILL TO COME
How it was doneWhat they foundWhat it means for PTs
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What it does not show
The sample was small, especially the group without risk factors (28 of 150), so the primary comparison could not detect a difference. Most participants had identified risk factors (122 of 150), so the without-risk-factor group was much smaller. Only whole-exome sequencing was performed; other tests such as whole genome sequencing or copy number variant analysis were not done, and some diagnoses could have been missed. The analysis was designed to find single-gene causes, so low-risk susceptibility genes and multigenic causes would not be identified. Phenotyping was largely retrospective and relied on medical records, with supplemental visits only when needed. Of 739 potentially eligible patients with appointments at the cerebral palsy center, only 244 met with a study coordinator, and 495 did not because of time conflicts, cancellations, no-shows, off-site appointments, or disinterest.
Declared interests
The article is listed as supported by NIH extramural research funding. The supplied text does not include a separate conflicts of interest declaration.
The easy way to misread this
Do not read the 14.3% rate in participants without risk factors and the 8.20% rate in participants with risk factors as proof that genetic testing is more useful in people without known causes. The primary comparison was not significant (p=0.298), and the cohort had 122 participants with risk factors and 28 without.