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Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity Stages

2019; Elsevier BV; Volume: 22; Issue: 6 Linguagem: Inglês

10.1016/j.jval.2019.01.016

1524-4733

Aileen K. Ho, Mike Horton, G. Bernhard Landwehrmeyer, Jean‐Marc Burgunder, Alan Tennant, Lorna Downie, Roisin Jack, Kirsty Matheson, Zosia Miedzybrodzka, D. O. Rae, Sheila A. Simpson, Fiona Summers, Alexandra Ure, Vivien Vaughan, Shahbana Akhtar, Jenny Crooks, Adrienne Curtis, Jenny de Souza, John Piedad, Hugh Rickards, Jan Wright, Elizabeth Coulthard, Louise Gethin, Beverley Hayward, Kasia Sieradzan, Abigail Wright, Roger A. Barker, Deidre O’Keefe, Anna Gerrtiz, Kate Fisher, Anna Goodman, Susan Hill, Sarah L. Mason, Rachel Swain, Natalie Valle Guzman, Monica Busse, Cynthia Butcher, Jenny Callaghan, Stephen B. Dunnett, Catherine Clenaghan, Ruth Fullam, Sarah Hunt, Lesley Jones, Una Jones, Hanan Khalil, Sara Minster, Michael J. Owen, Kathleen Price, Jenny Townhill, Anne Rosser, David Goudie, Lindsay Buchanan, Paula McFadyen, Alison Tonner, Anne-Marie Taylor, Maureen P. Edwards, Carrie Ho, Marie McGill, Mary Porteous, Pauline Pearson, Timothy Harrower, Sarah Irvine, Peter Brockie, Jillian Foster, Nicola Johns, Sue McKenzie, Jean Rothery, Gareth Thomas, Shona Yates, Catherine Deith, Jane Ireland, Stuart J. Ritchie, Pauline Brown, Liz Burrows, Amy Fletcher, Alison Harding, Kaye Harrison, Fiona Laver, Mark Silva, Aileen Thomson, Carol Chu, Carole Evans, Deena Gallentree, Stephanie Hamer, Alison Kraus, Ivana S. Marková, Ashok Raman, Liz Rowett, Alyson Andrew, Julie A. Frost, Rupert Noad, Jeremy Cosgrove, Deena Gallantree, Stephanie Hamer, Emma Hobson, Stuart W. Jamieson, Alison Kraus, Mandy Longthorpe, Ivana S. Marková, Hannah Musgrave, Caroline Peacy, Ashok Raman, Liz Rowett, Jean Toscano, Sue Wild, Pam Yardumian, Carole Clayton, Heather Dipple, Dawn Freire-Patino, Caroline Hallam, Julia Middleton, Sundus Alusi, Rhys Davies, Kevin Foy, Emily Gerrans, Louise Pate, Uruj Anjum, J.W.W. Coebergh, Charlotte Eddy, Nayana Lahiri, Meriel McEntagart, Michael J. Patton, Maria Peterson, Sarah Rose, Thomasin Andrews, Andrew Dougherty, Charlotte Golding, Fred Kavalier, Hana Laing, Alison Lashwood, Dene Robertson, Deborah Ruddy, Alastair Santhouse, Anna Whaite, Thomasin Andrews, Stefanie Gosling, Stefania Bruno, Elvina Chu, Karen A. Doherty, Charlotte Golding, Salman Haider, Davina J. Hensman Moss, Nayana Lahiri, Monica Lewis, Marianne Novak, Aakta Patel, Nicola J. Robertson, Elisabeth Rosser, Sarah J. Tabrizi, Rachel Taylor, Thomas T. Warner, Edward J. Wild, Natalie Arran, Judith Bek, Jenny Callaghan, David Craufurd, Ruth Fullam, Marianne Hare, Liz Livingston Howard, Susan Huson, Liz Johnson, Mary Pat Jones, Ashok Krishnamoorthy, Helen Murphy, Emma Oughton, Lucy Partington-Jones, Dawn Rogers, Andrea Sollom, Julie S. Snowden, Cheryl Stopford, J. C. Thompson, Iris Trender‐Gerhard, Nichola Verstraelen, Leann Westmoreland, G.R. Cass, Lynn Davidson, Jill Davison, Neil Fullerton, K. Holmes, Suresh Komati, Sharon M. McDonnell, Zeid Mohammed, K.E. Morgan, L. Savage, Baldev Singh, Joshua Wood, Andrea H. Németh, Gill Siuda, Ruth A. Valentine, K. Dixon, Richard Armstrong, John Burn, Rebecca Weekes, Janet Craven, Wendy Bailey, Caroline Coleman, Diane Haig-Brown, Steve Simpson, Marianne Hare, Tahir Majeed, Nicola Verstraelen, Richard Armstrong, K. Dixon, W. A. Barrett, Aileen K. Ho, Oliver Bandmann, Alyson Bradbury, Helen Fairtlough, Kay Fillingham, Isabella Foustanos, Paul R. Gill, Mbombe Kazoka, Kirsty O’Donovan, Louise Nevitt, Nadia Peppa, Oliver Quarrell, Cat Taylor, Katherine Tidswell, Christopher Kipps, Lesley MacKinnon, Veena R. Agarwal, Elaine Hayward, Kerry Gunner, Kayla Harris, Mary Ann Anderson, Melanie Heywood, Liane Keys, Sarah Smalley, George El-Nimr, Allison Duffell, Sue Wood, Karen Kennedy, Lesley Gowers, Kingsley Powell, Pamela Bethwaite, Rachel Edwards, Kathleen P. Fuller, Michelle Phillips, Walter H. Bucher, Beatrice De Schepper, John Eden, George El-Nimr, Victor Hendrikx, Alis Hughes, Diana King, Ursula Kleibrink, Rita Kuttruff-Wilschut, Anne Lenon-Bird, Christiane Lohkamp, Marie-Odile Perrousseaux, A. Martinez, Lilliane Rapaille, Helen Santini, Pavla Šašinková, Beverley Soltysiak, Stephen M. Smith, Hans van der Leer, L.B. van der Meer, Michael Wooldridge, Paola Zinzi,

Genetic Neurodegenerative Diseases

Although health-related quality of life is key for patients with long-term neurodegenerative conditions, measuring this is less straightforward and complex in Huntington's disease (HD).To refine and validate a fully patient-derived instrument, the Huntington's Disease health-related Quality of Life questionnaire (HDQoL), and to elucidate health domains that are meaningful to patients' lived experience.Five-hundred forty-one participants, from premanifest to end-stage disease, completed the HDQoL, together with generic quality-of-life measures and in-person motor, cognitive, and behavioral assessments. The psychometric properties of the HDQoL were examined using factor analysis and Rasch analysis.Four HDQoL domains emerged, reflecting the classical triad of HD features; they were Physical-Functional, Cognitive, and 2 different behavioral aspects, that is, the Mood-Self domain and a distinct Worries domain. These domains clarify the behavioral sequelae as experienced by patients, and all showed good to excellent internal consistency. Known-groups analyses illustrated significant and graded changes in clinical assessments and corresponding HDQoL domains across disease severity levels. Convergent and discriminant validity was demonstrated by the expected pattern of correlations between specific HDQoL domains and corresponding domain-relevant clinical assessments as well as patient-reported measures. The data demonstrate robust support for the refined HDQoL across disease stages.The HDQoL, with its 2 distinct behavioral domains of Mood-Self and Worries as well as the Physical-Functional and Cognitive domains, is a relevant, reliable, and valid patient-derived instrument to measure the impact of HD across all severity stages.