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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/4bb3e0bbb3164dd9951988e35f7802ba
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spelling	oai:doaj.org-article:4bb3e0bbb3164dd9951988e35f7802ba2021-11-19T13:55:31ZDigital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia2328-950310.1002/acn3.51438https://doaj.org/article/4bb3e0bbb3164dd9951988e35f7802ba2021-09-01T00:00:00Zhttps://doi.org/10.1002/acn3.51438https://doaj.org/toc/2328-9503Abstract 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.Arne MuellerElaine PatersonAvery McIntoshJens PraestgaardMary ByloHolger HoeflingMcKenzie WellsDavid R. LynchChristian RummeyMichelle L. KrishnanMeredith SchultzC. J. MalangaWileyarticleNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENAnnals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1845-1856 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 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
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.
format	article
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
title	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_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_sort	digital endpoints for self‐administered home‐based functional assessment in pediatric friedreich’s ataxia
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/4bb3e0bbb3164dd9951988e35f7802ba
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Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia

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