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HDQLIFE: the development of two new computer adaptive tests for use in Huntington disease, Speech Difficulties, and Swallowing Difficulties

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Abstract

Purpose

Huntington disease (HD) is an autosomal dominant neurodegenerative disease which results in several progressive symptoms, including bulbar dysfunction (i.e., speech and swallowing difficulties). Although difficulties in speech and swallowing in HD have a negative impact on health-related quality of life, no patient-reported outcome measure exists to capture these difficulties that are specific to HD. Thus, we developed a new patient-reported outcome measure for use in the Huntington Disease Health-Related Quality of Life (HDQLIFE) Measurement System that focused on the impact that difficulties with speech and swallowing have on HRQOL in HD.

Methods

Five hundred and seven individuals with prodromal and/or manifest HD completed 47 newly developed items examining speech and swallowing difficulties. Unidimensional item pools were identified using exploratory factor analysis and confirmatory factor analysis (EFA and CFA, respectively). Item response theory (IRT) was used to calibrate the final measures.

Results

EFA and CFA identified two separate unidimensional sets of items: Speech Difficulties (27 items) and Swallowing Difficulties (16 items). Items were calibrated separately for these two measures and resulted in item banks that can be administered as computer adaptive tests (CATs) and/or 6-item, static short forms. Reliability of both of these measures was supported through high correlations between the simulated CAT scores and the full item bank.

Conclusions

CATs and 6-item calibrated short forms were developed for HDQLIFE Speech Difficulties and HDQLIFE Swallowing Difficulties. These measures both demonstrate excellent psychometric properties and may have clinical utility in other populations where speech and swallowing difficulties are prevalent.

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Acknowledgments

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 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). Jennifer Waljee’s effort was supported in part by a Mentored Clinical Investigator Award through the Agency for Healthcare Research and Quality (K08HS023313). 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, CA), David Cella, Richard Gershon, Elizabeth Hahn, Jin-Shei Lai (Northwestern University, Chicago, IL).

Funding

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 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).

Author information

Authors and 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

    N. E. Carlozzi, S. G. Schilling, J. A. Miner & S. M. Goodnight

  2. Institute for Social Research, University of Michigan, Ann Arbor, MI, USA

    S. G. Schilling

  3. Center on Outcomes, Research and Education, Evanston Northwestern Healthcare, Northwestern University, Evanston, IL, USA

    J.-S. Lai

  4. Institute for Health Services Research and Policy Studies, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA

    J.-S. Lai

  5. Departments of Neurology, Radiology, and Anatomy and Neurobiology, Washington University School of Medicine, St. Louis, MO, USA

    J. S. Perlmutter & S. K. Barton

  6. Program in Occupational Therapy and Program in Physical Therapy, Washington University School of Medicine, St. Louis, MO, USA

    J. S. Perlmutter

  7. Hennepin County Medical Center, Minneapolis, MN, USA

    M. A. Nance

  8. Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN, USA

    M. A. Nance

  9. Department of Surgery, University of Michigan, Ann Arbor, MI, USA

    J. F. Waljee

  10. Department of Neurology, University of Michigan, Ann Arbor, MI, USA

    P. Dayalu

Authors
  1. N. E. Carlozzi
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  2. S. G. Schilling
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  3. J.-S. Lai
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  4. J. S. Perlmutter
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  5. M. A. Nance
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  6. J. F. Waljee
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  7. J. A. Miner
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  8. S. K. Barton
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  9. S. M. Goodnight
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  10. P. Dayalu
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Corresponding author

Correspondence to N. E. Carlozzi.

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Conflict of interest

Carlozzi, N.E. 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. Schilling, S.G. has a research grant from NSF. He also is supported by grant funding from NIH. He declares no conflicts of interest. Lai J.-S. currently has research grants from the NIH; she declares no conflicts of interest. Perlmutter, J.S. 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 Lukes Hospital in St Louis, Emory U, Penn State, Alberta innovates, Indiana Neurological Society, Parkinson Disease Foundation, Columbia University, St. Louis University, Harvard University, and the University of Michigan. Nance, M.A. declares no conflicts of interest. Waljee, J.F. currently has research grants from the Agency for Healthcare Research and Quality, the American College of Surgeons, and the American Foundation for Surgery of the Hand; she declares no conflicts of interest. Miner, J.A. is supported by research grants from the NIH; she declares no conflict of interest. Barton, S.K. is supported by grant funding from the Huntington’s Disease Society of America, CHDI Foundation, and the NIH. She declares no conflicts of interest. Goodnight, S.M. is supported by grant funding from the NIH and the Craig H. Neilsen Foundation; she declares no conflicts of interest. Dayalu, P. currently has research grants from the NIH, Astra-Zeneca, and Vaccinex. He declares no conflicts of interest.

Ethical approval

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 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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Carlozzi, N.E., Schilling, S.G., Lai, JS. et al. HDQLIFE: the development of two new computer adaptive tests for use in Huntington disease, Speech Difficulties, and Swallowing Difficulties. Qual Life Res 25, 2417–2427 (2016). https://doi.org/10.1007/s11136-016-1273-y

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