Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers.
Bhooma R Aravamuthan, Michele Shusterman, Leeanne Green Snyder and 3 others
PMID 35092695WHAT IT FOUND
Among adults with cerebral palsy and caregivers with a preference, most wanted a cerebral palsy label with a genetic cause.
They valued cerebral palsy for services, community, and explaining symptoms, and many wanted to know the cause.
Key findings
01Among respondents with a diagnostic preference, 68% preferred carrying both a cerebral palsy diagnosis and a genetic diagnosis.
02Respondents said a cerebral palsy diagnosis was more useful than a genetic diagnosis for anticipating symptoms, explaining symptoms, accessing services, joining a community, and understanding cause.
03Only 48% said a practitioner had told them the cause of their cerebral palsy, while 75% valued knowing the cause.
STILL TO COME
How it was doneWhat they foundWhat it means for PTs
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What it does not show
Only 197 of 560 contacted people responded, so the views may not represent all people with cerebral palsy or caregivers. Respondents were recruited from two registries, and people with genetic diagnoses were drawn mainly from Simons Searchlight, a narrow group. The survey asked people to value a hypothetical genetic diagnosis, which can be hard when they have little knowledge of it. Some respondents said they preferred to stay with their current diagnosis, so answers may reflect attachment to existing labels. The study focused on genetic causes, so views about non-genetic causes are unclear. Many respondents were adults diagnosed in childhood, and their diagnostic evaluations may be old and not reflect newer imaging or genetic testing. Over 50% of respondents were at high functional levels, which may limit relevance to people with more severe cerebral palsy. The survey did not ask whether respondents had pure hypotonia, a group for which cerebral palsy classification is debated.
Declared interests
The supplied text does not include an author conflict-of-interest declaration. Publication types indicate NIH extramural and non-U.S. government research support.
The easy way to misread this
Do not treat these preferences as proof that adding a genetic diagnosis improves care. The study asked people what labels they would prefer, not what happened after diagnosis, and 41% were unsure or had no preference.