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Abstract Details

Quality of Life in Fragile X-associated Tremor Ataxia Syndrome
Movement Disorders
Movement Disorders Posters (7:00 AM-5:00 PM)
029
To assess quality of life (QoL) in fragile X-associated tremor/ataxia syndrome (FXTAS) in order to establish baseline data for future clinical trials.

There are few studies investigating QoL in FXTAS, a neurodegenerative ataxia, in the literature.  This study examines the use of the Quality of Life for Neurological Disorders Scale (NeuroQoL) in FXTAS. The NeuroQoL evaluates physical, mental and social effects experienced by adults with neurological conditions using 13 measures, compared to clinical reference and general population scores.


Participants from the Rush University FXTAS Clinic met criteria for possible, probable or definite FXTAS. The NeuroQoL, Beck Depression Inventory (BDI), Telephone Interview for Cognitive Status, and FXTAS Rating Scale (FXTAS-RS) were administered to participants. Prior neuropsychological testing results were used to confirm cognitive diagnoses. Descriptive statistics were used for demographics and univariate analysis for NeuroQoL comparisons.

FXTAS participants (n=38) were 63% men and 68.6±8.2 yrs, with a FXTAS-RS of 28 (IQR 30), 15.6±3 yrs of education, and duration of 6.5±4.9 years of disease. Mild cognitive impairment was present in four and early-stage dementia in one participant. Mood (n=36) scored the following: normal (n=26), mild mood disturbance (n=5), borderline clinical depression (n=1), moderate depression (n=3) and extreme depression (n=1). Compared to the reference populations, FXTAS participants had increased (better) scores on cognition (p=0.01) and reduced (worse) scores on fatigue (p=0.002) and emotional/behavioral dyscontrol scales (p=0.001). There was no difference in anxiety, depression, upper or lower extremity function, positive affect, ability or satisfaction of social roles, and stigma.

An overall lack of quality of life abnormalities and reports of better cognitive function than the general population are unexpected for a neurodegenerative disease that causes substantial morbidity. The most likely explanation is disease-related lack of insight and argues that QoL in FXTAS should be evaluated using caregiver input and clinician rated scales in FXTAS.


Authors/Disclosures
Deborah H. Hall, MD, PhD, FÂ鶹´«Ã½Ó³»­ (Rush University)
PRESENTER 		Dr. Hall has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Â鶹´«Ã½Ó³»­. Dr. Hall has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier - Parkinsonism and Related Disorders. Dr. Hall has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Annals of Neurology. The institution of Dr. Hall has received research support from Parkinson's Foundation. The institution of Dr. Hall has received research support from CHDI. The institution of Dr. Hall has received research support from Uniqure. The institution of Dr. Hall has received research support from NIH.
Joseph Silva Mr. Silva has received research support from Rush Medical College Alumni Association.
Danielle N. Thordarson, MD (UCLA Neurology) Dr. Thordarson has nothing to disclose.
No disclosure on file
Bichun Ouyang Bichum Ouyang has nothing to disclose.
Bryan A. Bernard, PhD (Rush University Medical Center) Dr. Bernard has nothing to disclose.