title: HDQLIFE: development and assessment of health-related quality of life in Huntington disease (HD).
abstract: 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.
authors: 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.
authors: N E
authors: 0000-0003-0439-9429
authors: NE
authors: Carlozzi
authors: 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.|Institute for Social Research, University of Michigan, Ann Arbor, MI, USA.
authors: S G
authors: SG
authors: Schilling
authors: Department of Medical Social Sciences, Northwestern University, Chicago, IL, USA.
authors: J-S
authors: JS
authors: Lai
authors: Department of Psychiatry, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.|Department of Neurology, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.|Department of Psychology, The University of Iowa, Iowa City, IA, USA.
authors: J S
authors: JS
authors: Paulsen
authors: Department of Medical Social Sciences, Northwestern University, Chicago, IL, USA.
authors: E A
authors: EA
authors: Hahn
authors: Departments of Neurology, Radiology, and Anatomy and Neurobiology, Washington University School of Medicine, St. Louis, MO, USA.|Program in Occupational Therapy and Program in Physical Therapy, Washington University School of Medicine, St. Louis, MO, USA.
authors: J S
authors: JS
authors: Perlmutter
authors: Departments of Psychiatry, Neurology, Pharmacology and Neuroscience, Johns Hopkins University, Baltimore, MD, USA.
authors: C A
authors: CA
authors: Ross
authors: College of Nursing, The University of Iowa, Iowa City, IA, USA.
authors: N R
authors: NR
authors: Downing
authors: 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.
authors: A L
authors: AL
authors: Kratz
authors: Department of Pathology, Rowan University, Piscataway, NJ, USA.
authors: M K
authors: MK
authors: McCormack
authors: Struthers Parkinson's Center, Golden Valley, MN, USA.|Hennepin County Medical Center, Minneapolis, MN, USA.
authors: M A
authors: MA
authors: Nance
authors: Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN, USA.
authors: K A
authors: KA
authors: Quaid
authors: School of Psychological Sciences, Monash University, Clayton, VIC, Australia.
authors: J C
authors: JC
authors: Stout
authors: Department of Medical Social Sciences, Northwestern University, Chicago, IL, USA.|Department of Preventative Medicine, Northwestern University, Evanston, IL, USA.
authors: R C
authors: RC
authors: Gershon
authors: Department of Psychological and Brain Sciences, University of Massachusetts, Amherst, MA, USA.
authors: R E
authors: RE
authors: Ready
authors: 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.
authors: J A
authors: JA
authors: Miner
authors: Departments of Neurology, Radiology, and Anatomy and Neurobiology, Washington University School of Medicine, St. Louis, MO, USA.
authors: S K
authors: SK
authors: Barton
authors: Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
authors: S L
authors: SL
authors: Perlman
authors: Department of Psychiatry and Psychology, Cleveland Clinic, Cleveland, OH, USA.
authors: S M
authors: SM
authors: Rao
authors: Beth Israel Deaconess Medical Center, Boston, MA, USA.
authors: S
authors: S
authors: Frank
authors: Department of Neurology, Georgetown University, Washington, DC, USA.
authors: I
authors: I
authors: Shoulson
authors: Department of Psychiatry, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
authors: H
authors: H
authors: Marin
authors: Memory and Aging Center, UCSF, San Francisco, CA, USA.
authors: M D
authors: MD
authors: Geschwind
authors: Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
authors: P
authors: P
authors: Dayalu
authors: 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.
authors: S M
authors: SM
authors: Goodnight
authors: Department of Medical Social Sciences, Northwestern University, Chicago, IL, USA.
authors: D
authors: D
authors: Cella
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000523:psychology*; D008297:Male; D008875:Middle Aged; D018434:Sickness Impact Profile; D011795:Surveys and Questionnaires
keywords: HDQLIFE; Health-related quality of life; Huntington disease; Neuro-QoL; PROMIS; Patient-reported outcome (PRO)