Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia

Abstract Background Friedreich’s ataxia is an inherited, progressive, neurodegenerative disease that typically begins in childhood. Disease severity is commonly assessed with rating scales, such as the modified Friedreich’s Ataxia Rating Scale, which are usually administered in the clinic by a neuro...

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Main Authors: Arne Mueller, Elaine Paterson, Avery McIntosh, Jens Praestgaard, Mary Bylo, Holger Hoefling, McKenzie Wells, David R. Lynch, Christian Rummey, Michelle L. Krishnan, Meredith Schultz, C. J. Malanga
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51438
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author Arne Mueller
Elaine Paterson
Avery McIntosh
Jens Praestgaard
Mary Bylo
Holger Hoefling
McKenzie Wells
David R. Lynch
Christian Rummey
Michelle L. Krishnan
Meredith Schultz
C. J. Malanga
author_facet Arne Mueller
Elaine Paterson
Avery McIntosh
Jens Praestgaard
Mary Bylo
Holger Hoefling
McKenzie Wells
David R. Lynch
Christian Rummey
Michelle L. Krishnan
Meredith Schultz
C. J. Malanga
author_sort Arne Mueller
collection DOAJ
description Abstract Background Friedreich’s ataxia is an inherited, progressive, neurodegenerative disease that typically begins in childhood. Disease severity is commonly assessed with rating scales, such as the modified Friedreich’s Ataxia Rating Scale, which are usually administered in the clinic by a neurology specialist. Objective This study evaluated the utility of home‐based, self‐administered digital endpoints in children with Friedreich’s ataxia and unaffected controls and their relationship to standard clinical rating scales. Methods In a cross‐sectional study with 25 participants (13 with Friedreich’s ataxia and 12 unaffected controls, aged 6–15 years), home‐based digital endpoints that reflect activities of daily living were recorded over 1 week. Domains analyzed were hand motor function with a digitized drawing, automated analysis of speech with a recorded oral diadochokinesis test, and gait and balance with wearable sensors. Results Hand‐drawing and speech tests were easy to conduct and generated high‐quality data. The sensor‐based gait and balance tests suffered from technical limitations in this study setup. Several parameters discriminated between groups or correlated strongly with modified Friedreich’s Ataxia Rating Scale total score and activities of daily living total score in the Friedreich’s ataxia group. Hand‐drawing parameters also strongly correlated with standard 9‐hole peg test scores. Interpretation Deploying digital endpoints in home settings is feasible in this population, results in meaningful and robust data collection, and may allow for frequent sampling over longer periods of time to track disease progression. Care must be taken when training participants, and investigators should consider the complexity of the tasks and equipment used.
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spelling doaj.art-4bb3e0bbb3164dd9951988e35f7802ba2022-12-21T21:24:44ZengWileyAnnals of Clinical and Translational Neurology2328-95032021-09-01891845185610.1002/acn3.51438Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxiaArne Mueller0Elaine Paterson1Avery McIntosh2Jens Praestgaard3Mary Bylo4Holger Hoefling5McKenzie Wells6David R. Lynch7Christian Rummey8Michelle L. Krishnan9Meredith Schultz10C. J. Malanga11Translational Medicine Novartis Institutes for BioMedical Research Basel SwitzerlandTranslational Medicine Novartis Institutes for BioMedical Research Cambridge Massachusetts USANovartis Development Cambridge Massachusetts USANovartis Development Cambridge Massachusetts USATranslational Medicine Novartis Institutes for BioMedical Research Cambridge Massachusetts USANIBR Informatics Novartis Institute of Biomedical Research Basel SwitzerlandDivision of Neurology Departments of Neurology and Pediatrics Children’s Hospital of Philadelphia University of Pennsylvania School of Medicine Philadelphia Pennsylvania USADivision of Neurology Departments of Neurology and Pediatrics Children’s Hospital of Philadelphia University of Pennsylvania School of Medicine Philadelphia Pennsylvania USAClinical Data Science GmbH Basel SwitzerlandTranslational Medicine Novartis Institutes for BioMedical Research Basel SwitzerlandTranslational Medicine Novartis Institutes for BioMedical Research Cambridge Massachusetts USATranslational Medicine Novartis Institutes for BioMedical Research Cambridge Massachusetts USAAbstract Background Friedreich’s ataxia is an inherited, progressive, neurodegenerative disease that typically begins in childhood. Disease severity is commonly assessed with rating scales, such as the modified Friedreich’s Ataxia Rating Scale, which are usually administered in the clinic by a neurology specialist. Objective This study evaluated the utility of home‐based, self‐administered digital endpoints in children with Friedreich’s ataxia and unaffected controls and their relationship to standard clinical rating scales. Methods In a cross‐sectional study with 25 participants (13 with Friedreich’s ataxia and 12 unaffected controls, aged 6–15 years), home‐based digital endpoints that reflect activities of daily living were recorded over 1 week. Domains analyzed were hand motor function with a digitized drawing, automated analysis of speech with a recorded oral diadochokinesis test, and gait and balance with wearable sensors. Results Hand‐drawing and speech tests were easy to conduct and generated high‐quality data. The sensor‐based gait and balance tests suffered from technical limitations in this study setup. Several parameters discriminated between groups or correlated strongly with modified Friedreich’s Ataxia Rating Scale total score and activities of daily living total score in the Friedreich’s ataxia group. Hand‐drawing parameters also strongly correlated with standard 9‐hole peg test scores. Interpretation Deploying digital endpoints in home settings is feasible in this population, results in meaningful and robust data collection, and may allow for frequent sampling over longer periods of time to track disease progression. Care must be taken when training participants, and investigators should consider the complexity of the tasks and equipment used.https://doi.org/10.1002/acn3.51438
spellingShingle Arne Mueller
Elaine Paterson
Avery McIntosh
Jens Praestgaard
Mary Bylo
Holger Hoefling
McKenzie Wells
David R. Lynch
Christian Rummey
Michelle L. Krishnan
Meredith Schultz
C. J. Malanga
Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia
Annals of Clinical and Translational Neurology
title Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia
title_full Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia
title_fullStr Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia
title_full_unstemmed Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia
title_short Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia
title_sort digital endpoints for self administered home based functional assessment in pediatric friedreich s ataxia
url https://doi.org/10.1002/acn3.51438
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