HDQLIFE: development and assessment of health-related quality of life in Huntington disease (HD)
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Huntington disease (HD) is a chronic, debilitating genetic disease that affects physical, emotional, cognitive, and social health. Existing patient-reported outcomes (PROs) of health-related quality of life (HRQOL) used in HD are neither comprehensive, nor do they adequately account for clinically meaningful changes in function. While new PROs examining HRQOL (i.e., Neuro-QoL—Quality of Life in Neurological Disorders and PROMIS—Patient-Reported Outcomes Measurement Information System) offer solutions to many of these shortcomings, they do not include HD-specific content, nor have they been validated in HD. HDQLIFE addresses this by validating 12 PROMIS/Neuro-QoL domains in individuals with HD and by using established PROMIS methodology to develop new, HD-specific content.
New item pools were developed using cognitive debriefing with individuals with HD, and expert, literacy, and translatability reviews. Existing item banks and new item pools were field tested in 536 individuals with prodromal, early-, or late-stage HD.
Moderate to strong relationships between Neuro-QoL/PROMIS measures and generic self-report measures of HRQOL, and moderate relationships between Neuro-QoL/PROMIS and clinician-rated measures of similar constructs supported the validity of Neuro-QoL/PROMIS in individuals with HD. Exploratory and confirmatory factor analysis, item response theory, and differential item functioning analyses were utilized to develop new item banks for Chorea, Speech Difficulties, Swallowing Difficulties, and Concern with Death and Dying, with corresponding six-item short forms. A four-item short form was developed for Meaning and Purpose.
HDQLIFE encompasses both validated Neuro-QoL/PROMIS measures, as well as five new scales in order to provide a comprehensive assessment of HRQOL in HD.
KeywordsNeuro-QoL PROMIS Health-related quality of life HDQLIFE Huntington disease Patient-reported outcome (PRO)
Work on this manuscript was supported by the National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (R01NS077946), and the National Center for Advancing Translational Sciences (UL1TR000433). In addition, a portion of this study sample was collected in conjunction with the Predict-HD study. The Predict-HD study was supported by the NIH, National Institute of Neurological Disorders and Stroke (R01NS040068), the NIH, Center for Inherited Disease Research (provided supported for sample phenotyping), and the CHDI Foundation (award to the University of Iowa). We thank the University of Iowa, the Investigators and Coordinators of this study, the study participants, the National Research Roster for Huntington Disease Patients and Families, the Huntington Study Group, and the Huntington’s Disease Society of America. We acknowledge the assistance of Jeffrey D. Long, Hans J. Johnson, Jeremy H. Bockholt, Roland Zschiegner, and Jane S. Paulsen. We also acknowledge Roger Albin, Kelvin Chou, and Henry Paulsen for the assistance with participant recruitment. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.
HDQLIFE Site Investigators and Coordinators
Noelle Carlozzi, Praveen Dayalu, Stephen Schilling, Amy Austin, Matthew Canter, Siera Goodnight, Jennifer Miner, Nicholas Migliore (University of Michigan, Ann Arbor, MI); Jane Paulsen, Nancy Downing, Isabella DeSoriano, Courtney Shadrick, Amanda Miller (University of Iowa, Iowa City, IA); Kimberly Quaid, Melissa Wesson (Indiana University, Indianapolis, IN); Christopher Ross, Gregory Churchill, Mary Jane Ong (Johns Hopkins University, Baltimore, MD); Susan Perlman, Brian Clemente, Aaron Fisher, Gloria Obialisi, Michael Rosco (University of California Los Angeles, Los Angeles, CA); Michael McCormack, Humberto Marin, Allison Dicke (Rutgers University, Piscataway, NJ); Joel Perlmutter, Stacey Barton, Shineeka Smith (Washington University, St. Louis, MO); Martha Nance, Pat Ede (Struthers Parkinson’s Center); Stephen Rao, Anwar Ahmed, Michael Lengen, Lyla Mourany, Christine Reece, (Cleveland Clinic Foundation, Cleveland, OH); Michael Geschwind, Joseph Winer (University of California—San Francisco, San Francisco, CA), David Cella, Richard Gershon, Elizabeth Hahn, Jin-Shei Lai (Northwestern University, Chicago, IL).
Compliance with ethical standards
Conflict of interest
N.E. Carlozzi currently has research grants from the NIH; she is also supported by grant funding from the NIH, NIDILRR, and CHDI; she declares no conflicts of interest; S.G. Schilling has a research grant from NSF. He also is supported by grant funding from NIH. He declares no conflicts of interest; J.-S. Lai currently has research grants from the NIH; she declares no conflicts of interest; J.S. Paulsen currently has research grants from the NIH; she is also supported by grant funding from NIH, NINDS, and CHDI; she declares no conflicts of interest; E.A. Hahn currently has research grants from the NIH; she is also supported by grant funding from the NIH and PCORI, and by research contracts from Merck and EMMES; she declares no conflicts of interest; J.S. Perlmutter currently has funding from the NIH, HDSA, CHDI, and APDA. He has received honoraria from the University of Rochester, American Academy of Neurology, Movement Disorders Society, Toronto Western Hospital, St. Luke’s Hospital in St. Louis, Emory University, Penn State University, Alberta innovates, Indiana Neurological Society, Parkinson Disease Foundation, Columbia University, St. Louis University, Harvard University and the University of Michigan; C.A. Ross declares no conflicts of interest; N.R. Downing declares no conflicts of interest; A.L. Kratz currently has research grants from the NIH and the Craig H. Neilsen Foundation; she is also supported by grant funding from the NMSS; she declares no conflicts of interest; M.K. McCormack currently has grants from the NJ Department of Health; he declares no conflicts of interest. M.A. Nance declares no conflicts of interest; K.A. Quaid has research funding from NIH, NIA, NCRR, NINDS and CHDI. She also has funding from HDSA. She has no conflicts of interest to declare; J.C. Stout has received research funding in the past three years from the Australian National Health and Medical Research Council, University College London, the CHDI Foundation, Prana Biotechnology, and the University of California, Davis. She is a Director of Stout Neuropsych Pty Ltd, which has received funding from Omeros, Teva Pharmaceuticals, Vaccinex, and Isis. She has been a consultant to Prana Biotechnology and Roche. She receives compensation as a member of the Board of the Huntington’s Study Group. R.C. Gershon receives research funds from numerous NIH institutes and the Department of Defense. He also receives consulting funds from AO Outcome Center, LLC (a for-profit arm of the nonprofit AO Foundation) and the American Board of Foot and Ankle Surgery; R.E. Ready declares that she has no conflicts of interest; J.A. Miner is supported by research grants from the NIH; she declares no conflict of interest; S.K. Barton is supported by grant funding from the Huntington’s Disease Society of America, CHDI Foundation and the NIH. She declares no conflicts of interest; S.L. Perlman is supported by grant funding from the NIH, CHDI, FARA, NAF, and several pharmaceutical companies (Edison, Horizon, Pfizer, Reata, Retrotope, Shire, Teva); she declares no conflicts of interest; S.M. Rao has received research grants from NIH, Department of Defense, National MS Society, CHDI Foundation and Biogen, and honoraria from the International Neuropsychological Society, Biogen and Genzyme; he declares no conflicts of interest; S. Frank receives salary support from the Huntington Study Group for a study sponsored by Auspex Pharmaceuticals. There is no conflict of interest; I. Shoulson has received research grants from the Food and Drug Administration (FDA), National Institutes of Health (NINDS, NHGRI) and the Parkinson’s Disease Foundation (NY, NY). He has also received speaker honoraria from the American Academy of Neurology and JAMA Neurology as an associate editor. Since May 2014, Dr. Shoulson has been a non-executive director of Prana Biotechnology Ltd (Melbourne, Australia), for which he is compensated for director and consulting services but has no equity positions or stock options in the company. He declares no conflicts of interest as a co-author of the submitted research report. H. Marin currently has grants from the NJ Department of Health; he declares no conflicts of interest. M.D. Geschwind currently has research grants from the NIH/NIA and Quest Diagnostics; he is also supported by grant funding from Cure PSP and Tau Consortium. He does consulting for MedaCorp, Inc, Gerson-Lehrman Group, Best Doctors, Advance Medical, Inc. and Optio, LLC. He receives compensation for multiple Grand Round lectures. He also gets funding for his research work from the Michael J Homer Family Fund. He discloses no conflicts of interest. P. Dayalu currently has research grants from the NIH, Astra-Zeneca, and Vaccinex. He declares no conflicts of interest. S.M. Goodnight is supported by grant funding from the NIH and the Craig H. Neilsen Foundation; she declares no conflicts of interest. D. Cella receives grant funding from the National Institutes of Health and reports that he has no conflicts of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
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