Nicholas E Johnson1, Chad Heatwole2, Peter Creigh2, Michael P McDermott2,3, Nuran Dilek2, Man Hung4, Jerry Bounsanga4, Wan Tang5, Michael E Shy6, David N Herrmann2. 1. Department of Neurology, Virginia Commonwealth University, Richmond, VA. 2. Department of Neurology, University of Rochester, Rochester, NY. 3. Department of Biostatistics and Computational Biology, University of Rochester, Rochester, NY. 4. Department of Orthopedics, University of Utah, Salt Lake City, UT. 5. Department of Global Biostatistics and Data Science, Tulane University, New Orleans, LA. 6. Department of Neurology, University of Iowa, Iowa City, IA.
Abstract
OBJECTIVE: The development of a disease-specific patient-reported outcome for Charcot-Marie-Tooth disease is an important step in the preparation for therapeutic trials. This study describes the development of the Charcot-Marie-Tooth Health Index (CMTHI). METHODS: Inherited Neuropathy Consortium Contact Registry participants were queried on the symptoms that most impacted their lives. The CMTHI was developed based on these responses. Factor analysis, assessment of test-retest reliability, known group validity, and patient interviews were utilized to refine the instrument. RESULTS: The final CMTHI contains 18 themes that capture Charcot-Marie-Tooth disease (CMT) burden. The CMTHI has a high internal consistency and test-retest reliability. The CMTHI was able to discriminate between patient groups expected to have different disease burden. The CMTHI was able to discriminate levels of disability as measured by the CMT examination score and the mobility-Disability Severity Index. INTERPRETATION: The CMTHI represents a valid and reliable outcome to assess patient-reported disease burden in CMT. Ann Neurol 2018;84:225-233.
OBJECTIVE: The development of a disease-specific patient-reported outcome for Charcot-Marie-Tooth disease is an important step in the preparation for therapeutic trials. This study describes the development of the Charcot-Marie-Tooth Health Index (CMTHI). METHODS: Inherited Neuropathy Consortium Contact Registry participants were queried on the symptoms that most impacted their lives. The CMTHI was developed based on these responses. Factor analysis, assessment of test-retest reliability, known group validity, and patient interviews were utilized to refine the instrument. RESULTS: The final CMTHI contains 18 themes that capture Charcot-Marie-Tooth disease (CMT) burden. The CMTHI has a high internal consistency and test-retest reliability. The CMTHI was able to discriminate between patient groups expected to have different disease burden. The CMTHI was able to discriminate levels of disability as measured by the CMT examination score and the mobility-Disability Severity Index. INTERPRETATION: The CMTHI represents a valid and reliable outcome to assess patient-reported disease burden in CMT. Ann Neurol 2018;84:225-233.
Authors: Nicholas E Johnson; Janet Sowden; Nuran Dilek; Katy Eichinger; Joshua Burns; Michael P Mcdermott; Michael E Shy; David N Herrmann Journal: Muscle Nerve Date: 2015-02-11 Impact factor: 3.217
Authors: Nicholas E Johnson; Chad R Heatwole; Michele Ferguson; Janet E Sowden; Shanie Jeanat; David N Herrmann Journal: J Clin Neuromuscul Dis Date: 2013-09
Authors: Chad Heatwole; Rita Bode; Nicholas Johnson; Jeanne Dekdebrun; Nuran Dilek; Mark Heatwole; James E Hilbert; Elizabeth Luebbe; William Martens; Michael P Mcdermott; Nan Rothrock; Charles Thornton; Barbara G Vickrey; David Victorson; Richard Moxley Journal: Muscle Nerve Date: 2014-06 Impact factor: 3.217
Authors: V Fridman; B Bundy; M M Reilly; D Pareyson; C Bacon; J Burns; J Day; S Feely; R S Finkel; T Grider; C A Kirk; D N Herrmann; M Laurá; J Li; T Lloyd; C J Sumner; F Muntoni; G Piscosquito; S Ramchandren; R Shy; C E Siskind; S W Yum; I Moroni; E Pagliano; S Zuchner; S S Scherer; M E Shy Journal: J Neurol Neurosurg Psychiatry Date: 2014-11-27 Impact factor: 10.154
Authors: Marina Stavrou; Alexia Kagiava; Sarah G Choudury; Matthew J Jennings; Lindsay M Wallace; Allison M Fowler; Amanda Heslegrave; Jan Richter; Christina Tryfonos; Christina Christodoulou; Henrik Zetterberg; Rita Horvath; Scott Q Harper; Kleopas A Kleopa Journal: J Clin Invest Date: 2022-07-01 Impact factor: 19.456
Authors: Vera Fridman; Stefan Sillau; Gyula Acsadi; Chelsea Bacon; Kimberly Dooley; Joshua Burns; John Day; Shawna Feely; Richard S Finkel; Tiffany Grider; Laurie Gutmann; David N Herrmann; Callyn A Kirk; Sarrah A Knause; Matilde Laurá; Richard A Lewis; Jun Li; Thomas E Lloyd; Isabella Moroni; Francesco Muntoni; Emanuela Pagliano; Chiara Pisciotta; Giuseppe Piscosquito; Sindhu Ramchandren; Mario Saporta; Reza Sadjadi; Rosemary R Shy; Carly E Siskind; Charlotte J Sumner; David Walk; Janel Wilcox; Sabrina W Yum; Stephan Züchner; Steven S Scherer; Davide Pareyson; Mary M Reilly; Michael E Shy Journal: Neurology Date: 2020-02-11 Impact factor: 9.910
Authors: Katy Eichinger; Janet E Sowden; Joshua Burns; Michael P McDermott; Jeffrey Krischer; John Thornton; Davide Pareyson; Steven S Scherer; Michael E Shy; Mary M Reilly; David N Herrmann Journal: Front Neurol Date: 2022-06-27 Impact factor: 4.086