Journal article
Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort
Journal of the neurological sciences, Vol.410, pp.116642-116642
03/15/2020
DOI: 10.1016/j.jns.2019.116642
PMID: 31901720
Abstract
This study assessed the Health Related Quality of Life (HRQOL) of individuals with Friedreich Ataxia (FRDA) through responses to HRQOL questionnaires.
The SF-36, a generic HRQOL instrument, and symptom specific scales examining vision, fatigue, pain and bladder function were administered to individuals with FRDA and analyzed by comparison with disease features. Multiple linear regression models were used to study independent effects of genetic severity and age. Assessments were performed at baseline then intermittently after that.
Subjects were on average young adults. For the SF36, the subscale with the lowest HRQOL score was the physical function scale, while the emotional well-being score was the highest. The physical function scale correlated with age of onset, duration, and subject age. In assessment of symptom specific scales, bladder control scores (BLCS) correlated with duration and age, while impact of visual impairment scores (IVIS) correlated with duration. In linear regression models, the BLCS, Pain Effect Score, and IVIS scores were predicted by age and GAA length; modified fatigue impact scale scores were predicted only by GAA length. Physical function and role limitation scores declined over time. No change was seen over time in other SF-36 subscores. Symptom specific scales also worsened over time, most notably the IVIS and BLCS.
The SF-36 and symptom specific scales capture dysfunction in FRDA in a manner that reflects disease status. HRQOL dysfunction was greatest on physically related scales; such scales correlated with disease duration, indicating that they worsen with progressing disease.
•Generic and symptom specific questionnaires capture HRQOL in Friedreich Ataxia.•HRQOL is most affected on physical scales.•HRQOL change is similar at different ages of onset.•HRQOL values are predicted by objective measures of disease severity.
Details
- Title: Subtitle
- Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort
- Creators
- Emily Xiong - Division of Neurology, Children's Hospital of Philadelphia, 502 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104-4318, United States of AmericaAbigail E Lynch - Division of Neurology, Children's Hospital of Philadelphia, 502 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104-4318, United States of AmericaLouise A Corben - Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville 3052, Victoria, AustraliaMartin B Delatycki - Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville 3052, Victoria, AustraliaS.H Subramony - Department of Neurology, McKnight Brain Institute, Room L3-100, 1149 Newell Drive, Gainesville, FL 32611, United States of AmericaKhalaf Bushara - University of Minnesota, United States of AmericaChristopher M Gomez - University of Chicago, United States of AmericaJ. Chad Hoyle - Ohio State University, United States of AmericaGrace Yoon - Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Canada Hospital, University of Toronto, Toronto, ON, United States of AmericaBernard Ravina - University of Rochester, United States of AmericaKatherine D Mathews - University of Iowa, United States of AmericaGeorge Wilmot - Emory University, United States of AmericaTheresa Zesiewicz - University of South Florida, United States of AmericaSusan M Perlman - Uniersity of California Los Angeles, United States of AmericaJennifer M Farmer - Friedreich's Ataxia Research Alliance, 533 W Uwchlan Ave, Downingtown, PA 19335, United States of AmericaChristian Rummey - Clinical Data Science GmbH, Basel, SwitzerlandDavid R Lynch - Division of Neurology, Children's Hospital of Philadelphia, 502 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104-4318, United States of America
- Resource Type
- Journal article
- Publication Details
- Journal of the neurological sciences, Vol.410, pp.116642-116642
- Publisher
- Elsevier B.V
- DOI
- 10.1016/j.jns.2019.116642
- PMID
- 31901720
- ISSN
- 0022-510X
- eISSN
- 1878-5883
- Grant note
- DOI: 10.13039/100002108, name: Friedreich Ataxia Research Alliance
- Language
- English
- Date published
- 03/15/2020
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984070642402771
Metrics
21 Record Views