Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome.
Joan A O'Keefe, Erin E Robertson, Bichun Ouyang and 7 others
PMID 30243213WHAT IT FOUND
In men and women with FXTAS, slower processing speed and poorer attention were linked to shorter strides, slower turning, and more falls in the past year.
These cognitive deficits may help identify patients at higher risk of falling.
Key findings
01Lower processing speed scores were significantly correlated with shorter stride length, slower velocity, and slower sit-to-stand and turn transitions in participants with FXTAS.
02Lower scores on tests of processing speed and working memory were significantly correlated with a higher number of self-reported falls in the past year among participants with FXTAS.
03Stride length variability was significantly greater in premutation carriers both with and without FXTAS compared to controls, suggesting it may be an early marker of disease.
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
The sample size was relatively small, particularly for subgroup analyses by sex. The study design was cross-sectional, so it cannot prove that cognitive deficits cause gait problems or falls, only that they are associated. Fall data was retrospective (self-reported over the past year), which is prone to recall bias. Visuospatial processing was not specifically assessed, despite its known importance for gait and turning. The study did not use a dual-task paradigm, which may have underestimated cognitive-motor interference in carriers without FXTAS.
Declared interests
The study was supported by the NIH and non-U.S. government grants. No specific commercial conflicts of interest were declared in the provided text.
The easy way to misread this
Do not assume that treating the gait impairment will resolve the fall risk. The study shows a strong link between cognitive deficits (processing speed/attention) and both gait and falls, suggesting that cognitive factors are a primary driver of instability in FXTAS.