Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen.
adult
neuromuscular disorders
nusinersen
spinal muscular atrophy
Journal
European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
03
09
2020
accepted:
24
09
2020
pubmed:
5
10
2020
medline:
13
8
2021
entrez:
4
10
2020
Statut:
ppublish
Résumé
Following the commercial availability of nusinersen, there have been a number of new referrals of adults with spinal muscular atrophy (SMA) not regularly followed in tertiary-care centers or enrolled in any disease registry. We compared demographics and disease characteristics, including assessment of motor and respiratory function, in regularly followed patients and newcomers subdivided according to the SMA type. The cohort included 166 adult patients (mean age: 37.09 years): one type I, 65 type II, 99 type III, and one type IV. Of these 166, there were 67 newcomers. There was no significant difference between newcomers and regularly followed patients in relation to age and disease duration. The Hammersmith Functional Motor Scale Expanded and Revised Upper Limb Module scores were higher in the regularly followed patients compared to newcomers in the whole cohort and in both SMA II and II. A difference was also found on ventilatory status (p = 0.013) and Cobb's angle >50° (p = 0.039) between the two subgroups. No difference was found in scoliosis surgery prevalence (p > 0.05). Our results showed differences between the two subgroups, even if less marked in the type III patients. In the type II patients, there was a higher proportion of newcomers who were in the severe end of the spectrum. Of the newcomers, only approximately a third initiated treatment, as opposed to the 51% in the regularly followed patients. The identification of patients who were not part of the registries will help to redefine the overall prevalence of SMA and the occurrence of different phenotypes.
Sections du résumé
BACKGROUND AND PURPOSE
Following the commercial availability of nusinersen, there have been a number of new referrals of adults with spinal muscular atrophy (SMA) not regularly followed in tertiary-care centers or enrolled in any disease registry.
METHODS
We compared demographics and disease characteristics, including assessment of motor and respiratory function, in regularly followed patients and newcomers subdivided according to the SMA type.
RESULTS
The cohort included 166 adult patients (mean age: 37.09 years): one type I, 65 type II, 99 type III, and one type IV. Of these 166, there were 67 newcomers. There was no significant difference between newcomers and regularly followed patients in relation to age and disease duration. The Hammersmith Functional Motor Scale Expanded and Revised Upper Limb Module scores were higher in the regularly followed patients compared to newcomers in the whole cohort and in both SMA II and II. A difference was also found on ventilatory status (p = 0.013) and Cobb's angle >50° (p = 0.039) between the two subgroups. No difference was found in scoliosis surgery prevalence (p > 0.05).
CONCLUSIONS
Our results showed differences between the two subgroups, even if less marked in the type III patients. In the type II patients, there was a higher proportion of newcomers who were in the severe end of the spectrum. Of the newcomers, only approximately a third initiated treatment, as opposed to the 51% in the regularly followed patients. The identification of patients who were not part of the registries will help to redefine the overall prevalence of SMA and the occurrence of different phenotypes.
Substances chimiques
Oligonucleotides
0
nusinersen
5Z9SP3X666
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
602-608Investigateurs
Alessandra Di Bari
(A)
Amelia Signorino
(A)
Antonella Longo
(A)
Paola Tacchetti
(P)
Noemi Brolatti
(N)
Diletta Rossi
(D)
Chiara Bravetti
(C)
Simona Lucibello
(S)
Lavinia Fanelli
(L)
Nicola Forcina
(N)
Giulia Norcia
(G)
Sara Carnicella
(S)
Katia Agata Patanella
(KA)
Daniela Leone
(D)
Concetta Palermo
(C)
Beatrice Berti
(B)
Felice Catania
(F)
Andrea Colombo
(A)
Aurora Bozzardi
(A)
Gloria Ferrantini
(G)
Gianluca Vita
(G)
Informations de copyright
© 2020 European Academy of Neurology.
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