Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation.
outcome measure
physical therapy
respiratory function
spinal muscular atrophy
Journal
Muscle & nerve
ISSN: 1097-4598
Titre abrégé: Muscle Nerve
Pays: United States
ID NLM: 7803146
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
revised:
18
08
2021
received:
17
02
2021
accepted:
21
08
2021
pubmed:
26
8
2021
medline:
18
3
2022
entrez:
25
8
2021
Statut:
ppublish
Résumé
Spinal muscular atrophy (SMA) type III is a relatively mild form of SMA. Few studies have investigated the changes in both respiratory and upper limb function within this population after loss of ambulation. The aim of this study was to assess change in percentage of predicted forced vital capacity (FVC% predicted) and change in the Revised Upper Limb Module (RULM) score in these patients throughout a 24-month period after loss of ambulation. Effect of scoliosis and its surgical correction, disease duration since loss of ambulation, weight, and height were also investigated. Retrospective analyses were performed on 24 nonambulant SMA III patients from data collected at two centers in the United Kingdom. The FVC% predicted score showed a significant progressive deterioration of 17% over the 24-month period. Respiratory deterioration correlated significantly with age, weight, disease duration since loss of ambulation, and spinal correctional surgery. Longitudinal RULM data were available for 16 patients; a significant deterioration was observed with a mean decrease in score of 3 over 24 months. Age correlated negatively with RULM score, as did height and time since loss of ambulation. A significant positive correlation between FVC% predicted and RULM was demonstrated. This study highlights how SMA type III patients have progressive deterioration of respiratory and upper limb function after loss of ambulation. Combining data from these assessments could provide insight into clinical progression, inform clinical trials, and provide assistance in managing disease progression expectations for patients.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
545-551Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
Seferian AM, Moraux A, Canal A, et al. Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicentre trial. PLoS One. 2015;10:e0121799.
Petit F, Cuisset J, Rouaix-Emery N, et al. Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients. Muscle Nerve. 2011;43:23-30.
Verhaart IEC, Robertson A, Leary R, et al. A multi-source approach to determine SMA incidence and research ready population. J Neurol. 2017;264:1465-1473.
Michelson D, Ciafaloni E, Ashwal S, et al. Evidence in focus: nusinersen use in spinal muscular atrophy. Neurology. 2018;91:923-933.
Kaufmann P, McDermott MP, Darras B, et al. Observational study of spinal muscular atrophy type 2 and 3. Arch Neurol. 2011;68:779-786.
Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33:831-846.
Mercuri E, Finkel R, Montes J, et al. Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials. Neuromuscul Disord. 2016;26:126-131.
Farrar MA, Vucic S, Johnston HM, et al. Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy. J Paediatr. 2013;162:155-159.
Werlauff U, Vissing J, Steffensen BF. Change in muscle strength over time in spinal muscular atrophy types II and III. A long-term follow-up study. Neuromuscul Disord. 2012;22:1069-1074.
Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79:1889-1897.
Trucco F, Rideout D, Scoto M, et al. Respiratory trajectories in type 2 and non-ambulant 3 spinal muscular atrophy in the iSMAC cohort study. Neurology. 2021;96(4):e587-e599.
Darras BT, Chiriboga C, Iannaccone ST, et al. Nusinersen in later-onset spinal muscular atrophy. Neurology. 2019;92:e2492-e2506.
Finkel RS, Chiriboga CA, Vajsar J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet. 2016;388(10063):3017-3026.
Darras BT, Farrar MA, Mercuri E, et al. An integrated safety analysis of infants and children with symptomatic spinal muscular atrophy (SMA) treated with nusinersen in seven clinical trials. CNS Drugs. 2019;33:919-932.
World Health Organization. ICF: International Classification of Functioning, Disability and Health/World Health Organization. Switzerland: Geneva, WHO; 2001.
Graham BL, Steenbruggen I, Barjaktarevic IZ, et al. Standardization of spirometry 2019 update. An official American Thoracic Society and European Respiratory Society technical statement. Am J Respir Crit Care Med. 2019;200:E70-E88.
Mazzone ES, Mayhew A, Montes J, et al. Revised upper limb module for spinal muscular atrophy: development of a new module. Muscle Nerve. 2017;55:869-874.
Pera MC, Coratti G, Mazzone ES, et al. Revised upper limb module for spinal muscular atrophy: 12-month changes. Muscle Nerve. 2019;59:426-430.
Wijngaarde CA, Veldhoen ES, Eijk RPA, et al. Natural history of lung function in spinal muscular atrophy. Orphanet J Rare Dis. 2020;15:88.
Chabanon A, Seferian AM, Daron A, et al. Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: baseline data NatHis-SMA study. PLoS One. 2018;13(7):e0201004.
Hull J, Aniapravan R, Chan E, et al. British Thoracic Society guideline for respiratory management of children with neuromuscular weakness. Thorax. 2012;67:i1-i40.
Seferian AM, Moraux A, Annoussamy M, et al. Upper limb strength and function changes during a one-year follow up in non-ambulant patients with Duchenne muscular dystrophy: an observational multicentre trial. PLoS One. 2015;10:e0113999.