N E Carlozzi1, S G Schilling2,3, J-S Lai4, J S Paulsen5,6,7, E A Hahn4, J S Perlmutter8,9, C A Ross10, N R Downing11, A L Kratz2, M K McCormack12, M A Nance13,14, K A Quaid15, J C Stout16, R C Gershon4,17, 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. 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.
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.
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.
Authors: Sarah J Tabrizi; Ralf Reilmann; Raymund A C Roos; Alexandra Durr; Blair Leavitt; Gail Owen; Rebecca Jones; Hans Johnson; David Craufurd; Stephen L Hicks; Christopher Kennard; Bernhard Landwehrmeyer; Julie C Stout; Beth Borowsky; Rachael I Scahill; Chris Frost; Douglas R Langbehn Journal: Lancet Neurol Date: 2011-12-02 Impact factor: 44.182
Authors: K Duff; J Paulsen; J Mills; L J Beglinger; D J Moser; M M Smith; D Langbehn; J Stout; S Queller; D L Harrington Journal: Neurology Date: 2010-07-07 Impact factor: 9.910
Authors: Sarah J Tabrizi; Douglas R Langbehn; Blair R Leavitt; Raymund Ac Roos; Alexandra Durr; David Craufurd; Christopher Kennard; Stephen L Hicks; Nick C Fox; Rachael I Scahill; Beth Borowsky; Allan J Tobin; H Diana Rosas; Hans Johnson; Ralf Reilmann; Bernhard Landwehrmeyer; Julie C Stout Journal: Lancet Neurol Date: 2009-07-29 Impact factor: 44.182
Authors: Jane S Paulsen; Martha Nance; Ji-In Kim; Noelle E Carlozzi; Peter K Panegyres; Cheryl Erwin; Anita Goh; Elizabeth McCusker; Janet K Williams Journal: Prog Neurobiol Date: 2013-09-11 Impact factor: 11.685
Authors: N E Carlozzi; N R Downing; M K McCormack; S G Schilling; J S Perlmutter; E A Hahn; J S Lai; S Frank; K A Quaid; J S Paulsen; D Cella; S M Goodnight; J A Miner; M A Nance Journal: Qual Life Res Date: 2016-07-08 Impact factor: 4.147
Authors: Noelle E Carlozzi; Siera Goodnight; Anna L Kratz; Julie C Stout; Michael K McCormack; Jane S Paulsen; Nicholas R Boileau; David Cella; Rebecca E Ready Journal: J Huntingtons Dis Date: 2019
Authors: Rebecca E Ready; Nicholas R Boileau; Stacey K Barton; Jin-Shei Lai; Michael K McCormack; David Cella; Nora E Fritz; Jane S Paulsen; Noelle E Carlozzi Journal: J Huntingtons Dis Date: 2019
Authors: Noelle E Carlozzi; E A Hahn; S A Frank; J S Perlmutter; N D Downing; M K McCormack; S Barton; M A Nance; S G Schilling Journal: J Neurol Date: 2017-11-15 Impact factor: 4.849
Authors: Jin-Shei Lai; Siera Goodnight; Nancy R Downing; Rebecca E Ready; Jane S Paulsen; Anna L Kratz; Julie C Stout; Michael K McCormack; David Cella; Christopher Ross; Jenna Russell; Noelle E Carlozzi Journal: Qual Life Res Date: 2017-12-08 Impact factor: 4.147
Authors: Noelle E Carlozzi; Nicholas R Boileau; Joel S Perlmutter; Kelvin L Chou; Julie C Stout; Jane S Paulsen; Michael K McCormack; David Cella; Martha A Nance; Jin-Shei Lai; Praveen Dayalu Journal: J Neurol Date: 2018-04-23 Impact factor: 4.849
Authors: Elizabeth A Hahn; Nancy R Downing; Julie C Stout; Jane S Paulsen; Becky Ready; Siera Goodnight; Jin-Shei Lai; Jennifer A Miner; Noelle E Carlozzi Journal: Qual Life Res Date: 2017-12-06 Impact factor: 4.147
Authors: Nora E Fritz; Nicholas R Boileau; Julie C Stout; Rebecca Ready; Joel S Perlmutter; Jane S Paulsen; Kimberly Quaid; Stacey Barton; Michael K McCormack; Susan L Perlman; Noelle E Carlozzi Journal: J Neuropsychiatry Clin Neurosci Date: 2018-03-21 Impact factor: 2.198