Digital endpoints for self-administered home-based functional assessment in pediatric Friedreich's ataxia.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
revised:
16
07
2021
received:
14
05
2021
accepted:
17
07
2021
pubmed:
7
8
2021
medline:
24
2
2022
entrez:
6
8
2021
Statut:
ppublish
Résumé
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. 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. 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. 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. 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.
Sections du résumé
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.
Identifiants
pubmed: 34355532
doi: 10.1002/acn3.51438
pmc: PMC8419399
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1845-1856Subventions
Organisme : Novartis Pharma AG
Informations de copyright
© 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
Références
Neurology. 2006 Jun 13;66(11):1717-20
pubmed: 16769946
Cerebellum. 2014 Dec;13(6):677-88
pubmed: 25022367
Lancet Neurol. 2015 Feb;14(2):174-82
pubmed: 25566998
Folia Phoniatr Logop. 2019;71(5-6):238-250
pubmed: 31256159
EClinicalMedicine. 2020 Jan 08;18:100213
pubmed: 31938785
J Voice. 2017 Mar;31(2):243.e9-243.e19
pubmed: 27501923
Orphanet J Rare Dis. 2020 Aug 3;15(1):198
pubmed: 32746884
Ann Clin Transl Neurol. 2016 Jul 25;3(9):684-94
pubmed: 27648458
Gait Posture. 2018 Feb;60:154-163
pubmed: 29220753
J Neurol Sci. 2011 Apr 15;303(1-2):1-12
pubmed: 21315377
Neuromuscul Disord. 2019 Jul;29(7):514-516
pubmed: 31272741
Mov Disord. 2005 Jul;20(7):777-82
pubmed: 15747359
Mov Disord. 2021 Feb;36(2):471-480
pubmed: 33107647
NPJ Digit Med. 2020 Apr 14;3:55
pubmed: 32337371
Science. 1996 Mar 8;271(5254):1423-7
pubmed: 8596916
Ann Clin Transl Neurol. 2020 Jul;7(7):1148-1157
pubmed: 32515889
Mov Disord. 2005 Dec;20(12):1585-91
pubmed: 16114019
Neurology. 2006 Jun 13;66(11):1711-6
pubmed: 16769945
Mov Disord Clin Pract. 2021 Apr 06;8(5):688-693
pubmed: 34307740
Mov Disord. 2010 Jan 15;25(1):108-11
pubmed: 20014117
J Neurol. 2014 Jan;261(1):213-23
pubmed: 24263407
Ann Clin Transl Neurol. 2020 Sep;7(9):1708-1712
pubmed: 32779859
J Neurol. 2010 Apr;257(4):518-23
pubmed: 19823893
N Engl J Med. 1996 Oct 17;335(16):1169-75
pubmed: 8815938
Gait Posture. 2018 Mar;61:149-162
pubmed: 29351857
Neurol Genet. 2019 Oct 29;5(6):371
pubmed: 32042904
Neurology. 2005 Apr 12;64(7):1261-2
pubmed: 15824358
Clin Pharmacol Ther. 2020 Oct;108(4):706-709
pubmed: 32215920
J Neurosci Methods. 2008 Jun 30;171(2):264-70
pubmed: 18462803
J Neurol Sci. 1997 Feb 12;145(2):205-11
pubmed: 9094050
Mov Disord. 2021 May;36(5):1242-1246
pubmed: 33433030