Friedreich's Ataxia-Health Index

被引：1

作者：

Seabury, Jamison ^{[1
]}

Rosero, Spencer ^{[1
]}

Varma, Anika ^{[1
]}

Weinstein, Jennifer ^{[1
]}

Engebrecht, Charlotte ^{[1
]}

Dilek, Nuran ^{[2
]}

Heatwole, John ^{[3
]}

Alexandrou, Danae ^{[4
]}

Cohen, Brittany ^{[1
]}

Larkindale, Jane ^{[5
]}

Lynch, David R. ^{[6
]}

Park, Courtney ^{[6
]}

Subramony, Sub H. ^{[7
]}

Wagner, Ellen ^{[1
]}

Walther, Susan ^{[8
]}

Wells, Mckenzie ^{[6
]}

Zizzi, Christine ^{[1
]}

Heatwole, Chad ^{[1
,9
]}

机构：

[1] Univ Rochester, Ctr Hlth Technol CHeT, Rochester, NY 14627 USA

[2] Univ Rochester, Dept Neurol & Biostat, Rochester, NY USA

[3] Pittsford Sutherland High Sch, Pittsford, NY USA

[4] Loyola Univ Chicago, Stritch Sch Med, Chicago, IL USA

[5] PepGen Inc, Boston, MA USA

[6] Childrens Hosp Philadelphia CHOP, Philadelphia, PA USA

[7] Univ Florida, Coll Med SHS, Gainesville, FL USA

[8] Friedreichs Ataxia Res Alliance FARA, Downingtown, PA USA

[9] Univ Rochester, Dept Neurol, Rochester, NY 14627 USA

来源：

NEUROLOGY-CLINICAL PRACTICE | 2023年 / 13卷 / 05期

关键词：

FRIEDREICH ATAXIA; INITIAL EVALUATION; IMPACT;

D O I：

10.1212/CPJ.0000000000200180

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background and Objectives To develop a valid, disease-specific, patient-reported outcome (PRO) measure for adolescents and adults with Friedreich ataxia (FA) for use in therapeutic trials.Methods We conducted semistructured qualitative interviews and a national cross-sectional study of individuals with FA to determine the most prevalent and burdensome symptoms and symptomatic themes to this population. These symptoms and symptomatic themes were included as questions in the first version of the Friedreich's Ataxia-Health Index (FA-HI). We subsequently used factor analysis, beta interviews with 17 individuals with FA, and test-retest reliability assessments with 20 individuals with FA to evaluate, refine, and optimize the FA-HI. Finally, we determined the capability of the FA-HI to differentiate between subgroups of FA participants with varying levels of disease severity.Results Participants with FA identified 18 symptomatic themes of importance to be included as subscales in the FA-HI. The FA-HI demonstrates high internal consistency and test-retest reliability, and it was identified by participants as highly relevant, comprehensive, and easy to complete. FA-HI total and subscale scores statistically differentiated between subgroups of participants with varying levels of disease burden.Discussion Initial evaluation of the FA-HI supports its validity and reliability as a PRO for assessing how individuals with FA feel and function.

引用

页数：10

共 15 条

[1]

[Anonymous], NINDS common data elements

[2] The Huntington's Disease Health Index: Initial Evaluation of a Disease-Specific Patient Reported Outcome Measure [J].

Brumfield, Olivia S. ;

Zizzi, Christine E. ;

Dilek, Nuran ;

Alexandrou, Danae G. ;

Glidden, Alistair M. ;

Rosero, Spencer ;

Weinstein, Jennifer ;

Seabury, Jamison ;

Kaat, Aaron ;

McDermott, Michael P. ;

Dorsey, E. Ray ;

Heatwole, Chad R. .

JOURNAL OF HUNTINGTONS DISEASE, 2022, 11 (02) :217-226

[3] Friedreich's Ataxia Impact Scale: A New Measure Striving to Provide the Flexibility Required by Today's Studies [J].

Cano, Stefan J. ;

Riazi, Afsane ;

Schapira, Anthony H. V. ;

Cooper, J. Mark ;

Hobart, Jeremy C. .

MOVEMENT DISORDERS, 2009, 24 (07) :984-992

[4] Friedreich ataxia: an overview [J].

Delatycki, MB ;

Williamson, R ;

Forrest, SM .

JOURNAL OF MEDICAL GENETICS, 2000, 37 (01) :1-8

[5] Myotonic dystrophy patient preferences in patient-reported outcome measures [J].

Heatwole, Chad ;

Johnson, Nicholas ;

Dekdebrun, Jeanne ;

Dilek, Nuran ;

Eichinger, Kate ;

Hilbert, James ;

Luebbe, Elizabeth ;

Martens, William ;

Mcdermott, Michael P. ;

Thornton, Charles ;

Moxley, Richard .

MUSCLE & NERVE, 2018, 58 (01) :49-55

[6] MYOTONIC DYSTROPHY HEALTH INDEX: CORRELATIONS WITH CLINICAL TESTS AND PATIENT FUNCTION [J].

Heatwole, Chad ;

Bode, Rita ;

Johnson, Nicholas E. ;

Dekdebrun, Jeanne ;

Dilek, Nuran ;

Eichinger, Katy ;

Hilbert, James E. ;

Logigian, Eric ;

Luebbe, Elizabeth ;

Martens, William ;

Mcdermott, Michael P. ;

Pandya, Shree ;

Puwanant, Araya ;

Rothrock, Nan ;

Thornton, Charles ;

Vickrey, Barbara G. ;

Victorson, David ;

Moxley, Richard T., III .

MUSCLE & NERVE, 2016, 53 (02) :183-190

[7] MYOTONIC DYSTROPHY HEALTH INDEX: INITIAL EVALUATION OF A DISEASE-SPECIFIC OUTCOME MEASURE [J].

Heatwole, Chad ;

Bode, Rita ;

Johnson, Nicholas ;

Dekdebrun, Jeanne ;

Dilek, Nuran ;

Heatwole, Mark ;

Hilbert, James E. ;

Luebbe, Elizabeth ;

Martens, William ;

Mcdermott, Michael P. ;

Rothrock, Nan ;

Thornton, Charles ;

Vickrey, Barbara G. ;

Victorson, David ;

Moxley, Richard, III .

MUSCLE & NERVE, 2014, 49 (06) :906-914

[8] Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1) [J].

Heatwole, Chad ;

Bode, Rita ;

Johnson, Nicholas ;

Quinn, Christine ;

Martens, William ;

McDermott, Michael P. ;

Rothrock, Nan ;

Thornton, Charles ;

Vickrey, Barbara ;

Victorson, David ;

Moxley, Richard, III .

NEUROLOGY, 2012, 79 (04) :348-357

[9] The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome [J].

Johnson, Nicholas E. ;

Heatwole, Chad ;

Creigh, Peter ;

McDermott, Michael P. ;

Dilek, Nuran ;

Hung, Man ;

Bounsanga, Jerry ;

Tang, Wan ;

Shy, Michael E. ;

Herrmann, David N. .

ANNALS OF NEUROLOGY, 2018, 84 (02) :225-233

[10] Development and Validation of a Patient-Reported Outcome Measure of Ataxia [J].

Schmahmann, Jeremy D. ;

Pierce, Samantha ;

MacMore, Jason ;

L'Italien, Gilbert J. .

MOVEMENT DISORDERS, 2021, 36 (10) :2367-2377

← 1 2 →