Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient's perspective.
Jasper E Visser, Adam C Cotton, David J Schretlen and 7 others
PMID 33689173WHAT IT FOUND
Caregivers reported mixed benefits after deep brain stimulation in Lesch-Nyhan disease.
Some improvements were reported, but scores varied widely and adverse events were common. Only about half endorsed repeating the procedure.
Key findings
01For the 14 participants, caregiver ratings were close to 5 and varied widely, so the paper did not show a consistent clinically important improvement.
02Adverse events were frequent: all but one participant had at least one, six had equipment infections, five had hardware problems, and all but two needed at least one additional surgery.
03Overall impressions were mixed, with about half of caregivers positive about the effect and about half endorsing repeating the procedure.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTs
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What it does not show
Only 14 participants were assessed, and they were operated at different centres with different electrode setups, so results may not be generalizable. The caregiver questionnaire was adapted and not formally validated. The literature review relied on case reports, which the authors note are biased toward favorable outcomes. Recall bias was possible, although adverse events could be checked against medical records. The paper is not a controlled trial; the authors say anecdotal observations need controlled clinical trials before DBS can be recommended.
Declared interests
No author conflict-of-interest statement is supplied. The article metadata lists NIH extramural and non-U.S. government research support.
The easy way to misread this
Do not read the positive case reports or the median scores near 5 as proof that DBS reliably improves Lesch-Nyhan disease. In the 14 participants, outcomes varied widely and adverse events were common, and only about half endorsed repeating the procedure.