HDQLIFE: development and assessment of health-related quality of life in Huntington disease (HD)

N E Carlozzi¹, S G Schilling^{2

3}, J-S Lai⁴, J S Paulsen^{5

6

7}, E A Hahn⁴, J S Perlmutter^{8

9}, C A Ross¹⁰, N R Downing¹¹, A L Kratz², M K McCormack¹², M A Nance^{13

14}, K A Quaid¹⁵, J C Stout¹⁶, R C Gershon^{4

17}, R E Ready¹⁸, J A Miner², S K Barton⁸, S L Perlman¹⁹, S M Rao²⁰, S Frank²¹, I Shoulson²², H Marin²³, M D Geschwind²⁴, P Dayalu²⁵, S M Goodnight², D Cella⁴

Affiliations

¹ Department of Physical Medicine and Rehabilitation, University of Michigan, North Campus Research Complex, 2800 Plymouth Road, Building NCRC B14, Room G216, Ann Arbor, MI, 48109-2800, USA. carlozzi@med.umich.edu.
² Department of Physical Medicine and Rehabilitation, University of Michigan, North Campus Research Complex, 2800 Plymouth Road, Building NCRC B14, Room G216, Ann Arbor, MI, 48109-2800, USA.
³ Institute for Social Research, University of Michigan, Ann Arbor, MI, USA.
⁴ Department of Medical Social Sciences, Northwestern University, Chicago, IL, USA.
⁵ Department of Psychiatry, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.
⁶ Department of Neurology, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.
⁷ Department of Psychology, The University of Iowa, Iowa City, IA, USA.
⁸ Departments of Neurology, Radiology, and Anatomy and Neurobiology, Washington University School of Medicine, St. Louis, MO, USA.
⁹ Program in Occupational Therapy and Program in Physical Therapy, Washington University School of Medicine, St. Louis, MO, USA.
¹⁰ Departments of Psychiatry, Neurology, Pharmacology and Neuroscience, Johns Hopkins University, Baltimore, MD, USA.
¹¹ College of Nursing, The University of Iowa, Iowa City, IA, USA.
¹² Department of Pathology, Rowan University, Piscataway, NJ, USA.
¹³ Struthers Parkinson's Center, Golden Valley, MN, USA.
¹⁴ Hennepin County Medical Center, Minneapolis, MN, USA.
¹⁵ Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN, USA.
¹⁶ School of Psychological Sciences, Monash University, Clayton, VIC, Australia.
¹⁷ Department of Preventative Medicine, Northwestern University, Evanston, IL, USA.
¹⁸ Department of Psychological and Brain Sciences, University of Massachusetts, Amherst, MA, USA.
¹⁹ Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
²⁰ Department of Psychiatry and Psychology, Cleveland Clinic, Cleveland, OH, USA.
²¹ Beth Israel Deaconess Medical Center, Boston, MA, USA.
²² Department of Neurology, Georgetown University, Washington, DC, USA.
²³ Department of Psychiatry, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
²⁴ Memory and Aging Center, UCSF, San Francisco, CA, USA.
²⁵ Department of Neurology, University of Michigan, Ann Arbor, MI, USA.

PMID: 27522213
PMCID: PMC6108175
DOI: 10.1007/s11136-016-1386-3

HDQLIFE: development and assessment of health-related quality of life in Huntington disease (HD)

N E Carlozzi et al. Qual Life Res. 2016 Oct.

. 2016 Oct;25(10):2441-2455.

doi: 10.1007/s11136-016-1386-3. Epub 2016 Aug 13.

Authors

Affiliations

¹ Department of Physical Medicine and Rehabilitation, University of Michigan, North Campus Research Complex, 2800 Plymouth Road, Building NCRC B14, Room G216, Ann Arbor, MI, 48109-2800, USA. carlozzi@med.umich.edu.
² Department of Physical Medicine and Rehabilitation, University of Michigan, North Campus Research Complex, 2800 Plymouth Road, Building NCRC B14, Room G216, Ann Arbor, MI, 48109-2800, USA.
³ Institute for Social Research, University of Michigan, Ann Arbor, MI, USA.
⁴ Department of Medical Social Sciences, Northwestern University, Chicago, IL, USA.
⁵ Department of Psychiatry, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.
⁶ Department of Neurology, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.
⁷ Department of Psychology, The University of Iowa, Iowa City, IA, USA.
⁸ Departments of Neurology, Radiology, and Anatomy and Neurobiology, Washington University School of Medicine, St. Louis, MO, USA.
⁹ Program in Occupational Therapy and Program in Physical Therapy, Washington University School of Medicine, St. Louis, MO, USA.
¹⁰ Departments of Psychiatry, Neurology, Pharmacology and Neuroscience, Johns Hopkins University, Baltimore, MD, USA.
¹¹ College of Nursing, The University of Iowa, Iowa City, IA, USA.
¹² Department of Pathology, Rowan University, Piscataway, NJ, USA.
¹³ Struthers Parkinson's Center, Golden Valley, MN, USA.
¹⁴ Hennepin County Medical Center, Minneapolis, MN, USA.
¹⁵ Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN, USA.
¹⁶ School of Psychological Sciences, Monash University, Clayton, VIC, Australia.
¹⁷ Department of Preventative Medicine, Northwestern University, Evanston, IL, USA.
¹⁸ Department of Psychological and Brain Sciences, University of Massachusetts, Amherst, MA, USA.
¹⁹ Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
²⁰ Department of Psychiatry and Psychology, Cleveland Clinic, Cleveland, OH, USA.
²¹ Beth Israel Deaconess Medical Center, Boston, MA, USA.
²² Department of Neurology, Georgetown University, Washington, DC, USA.
²³ Department of Psychiatry, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
²⁴ Memory and Aging Center, UCSF, San Francisco, CA, USA.
²⁵ Department of Neurology, University of Michigan, Ann Arbor, MI, USA.

PMID: 27522213
PMCID: PMC6108175
DOI: 10.1007/s11136-016-1386-3

Abstract

Purpose: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Keywords: HDQLIFE; Health-related quality of life; Huntington disease; Neuro-QoL; PROMIS; Patient-reported outcome (PRO).

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Conflict of interest statement

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 forprofit 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 Meda-Corp, 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.

Figures

**Fig. 1**
Components of the HDQLIFE measurement system

See this image and copyright information in PMC

References

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HDQLIFE: development and assessment of health-related quality of life in Huntington disease (HD)

Affiliations

HDQLIFE: development and assessment of health-related quality of life in Huntington disease (HD)

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Miscellaneous