Reliable virtual clinical assessment in spino-bulbar muscular atrophy (SBMA).
COVID-19
spinal muscular atro
Journal
Journal of neurology, neurosurgery, and psychiatry
ISSN: 1468-330X
Titre abrégé: J Neurol Neurosurg Psychiatry
Pays: England
ID NLM: 2985191R
Informations de publication
Date de publication:
02 2023
02 2023
Historique:
received:
20
05
2022
accepted:
31
08
2022
pubmed:
23
9
2022
medline:
14
1
2023
entrez:
22
9
2022
Statut:
ppublish
Résumé
Spino-bulbar muscular atrophy (SBMA), caused by a CAG repeat expansion in the androgen receptor gene, affects adult men and results in muscle atrophy and weakness in the bulbar and limb muscles and signs of partial androgen insensitivity. During the COVID-19 pandemic, outpatients' visits have been reduced to preserve safety of frail patients, and telehealth was largely employed. From April to November 2020, we monitored 12 patients with SBMA with telehealth and administered remotely two clinical scales currently used for SBMA: Adult Myopathy Assessment Tool (AMAT) and SBMA-Functional Rating Scale (SBMA-FRS). We compared results with previous and subsequent in-person visits' scores, and assessed the longitudinal changes in AMAT and SBMA-FRS scores during 7 years through the repeated measures analysis of variance (ANOVA). Repeated measures ANOVA of AMAT scores collected during 7 years and including tele-AMAT evaluation showed a steady mean decline of 1-2 points per year. A similar trend of SBMA-FRS scores, with a mean decline per year of about 1 point, was observed. There was no relevant deviation from the model prediction. Our data show that telehealth is a valid tool to monitor patients with SBMA: AMAT and SBMA-FRS scales can be effectively, reliably and easily administered remotely.
Sections du résumé
BACKGROUND
Spino-bulbar muscular atrophy (SBMA), caused by a CAG repeat expansion in the androgen receptor gene, affects adult men and results in muscle atrophy and weakness in the bulbar and limb muscles and signs of partial androgen insensitivity. During the COVID-19 pandemic, outpatients' visits have been reduced to preserve safety of frail patients, and telehealth was largely employed.
METHODS
From April to November 2020, we monitored 12 patients with SBMA with telehealth and administered remotely two clinical scales currently used for SBMA: Adult Myopathy Assessment Tool (AMAT) and SBMA-Functional Rating Scale (SBMA-FRS). We compared results with previous and subsequent in-person visits' scores, and assessed the longitudinal changes in AMAT and SBMA-FRS scores during 7 years through the repeated measures analysis of variance (ANOVA).
RESULTS
Repeated measures ANOVA of AMAT scores collected during 7 years and including tele-AMAT evaluation showed a steady mean decline of 1-2 points per year. A similar trend of SBMA-FRS scores, with a mean decline per year of about 1 point, was observed. There was no relevant deviation from the model prediction.
CONCLUSIONS
Our data show that telehealth is a valid tool to monitor patients with SBMA: AMAT and SBMA-FRS scales can be effectively, reliably and easily administered remotely.
Identifiants
pubmed: 36137740
pii: jnnp-2022-329616
doi: 10.1136/jnnp-2022-329616
doi:
Substances chimiques
Receptors, Androgen
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
161Informations de copyright
© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: DP acknowledges donations from Pfizer, LAM Therapeutics and Acceleron to support research activities of his research unit; financial support from Pfizer, Alnylam and Kedrion for participation in national and international meetings; participation in Advisory Board of Inflectis, Alnylam, Akcea, Arvinas and Augustine Tx; and speaker honorarium from Alnylam. SF and DP are members of the Euro-NMD ERN.