Epidemiological investigation of spinal muscular atrophy in Japan.
Epidemiology
Genetic testing
Incidence
Prevalence
Spinal muscular atrophy
Journal
Brain & development
ISSN: 1872-7131
Titre abrégé: Brain Dev
Pays: Netherlands
ID NLM: 7909235
Informations de publication
Date de publication:
Jan 2022
Jan 2022
Historique:
received:
12
02
2021
revised:
05
08
2021
accepted:
05
08
2021
pubmed:
29
8
2021
medline:
3
3
2022
entrez:
28
8
2021
Statut:
ppublish
Résumé
International reporting of epidemiological surveys of spinal muscular atrophy (SMA) in Japan has been limited to Shikoku, despite the epidemiology of the disease in countries worldwide becoming clearer. Treatments of 5q-SMA have been developed, and epidemiological studies are needed. This study aimed to conduct a nationwide epidemiological survey of SMA in Japan to clarify the actual situation of SMA in Japan. Patients with all clinical types of SMA, including neonates and adults, were selected from 1,005 medical facilities in Japan. As of December 2017, the actual number of reported patients with SMA was 658 and the genetic testing rate was 79.5%. The estimated number of patients was 1,478 (95% confidence interval (CI), 1,122-1,834), with a prevalence of 1.17 (95%CI, 0.89-1.45) per 100,000 people and an incidence of 0.51 (95%CI, 0.32-0.71) per 10,000 live births. Incidence rates of 5q-SMA by clinical type were 0.27 (95%CI, 0.17-0.38) and 0.08 (95%CI, 0.04-0.11) per 10,000 live births for type 1 and 2, respectively, in cases with a definitive diagnosis by genetic testing. We found that 363 cases (82.7%) occurred less than 2 years and 88 (20.0%) occurred age of 2 months old or under. This study clarifies the prevalence and incidence of SMA in Japan. As infantile onset accounts for most cases of SMA, newborn screening and subsequent treatment are important to save lives.
Sections du résumé
BACKGROUND
BACKGROUND
International reporting of epidemiological surveys of spinal muscular atrophy (SMA) in Japan has been limited to Shikoku, despite the epidemiology of the disease in countries worldwide becoming clearer. Treatments of 5q-SMA have been developed, and epidemiological studies are needed.
PURPOSE
OBJECTIVE
This study aimed to conduct a nationwide epidemiological survey of SMA in Japan to clarify the actual situation of SMA in Japan.
METHOD
METHODS
Patients with all clinical types of SMA, including neonates and adults, were selected from 1,005 medical facilities in Japan.
RESULTS
RESULTS
As of December 2017, the actual number of reported patients with SMA was 658 and the genetic testing rate was 79.5%. The estimated number of patients was 1,478 (95% confidence interval (CI), 1,122-1,834), with a prevalence of 1.17 (95%CI, 0.89-1.45) per 100,000 people and an incidence of 0.51 (95%CI, 0.32-0.71) per 10,000 live births. Incidence rates of 5q-SMA by clinical type were 0.27 (95%CI, 0.17-0.38) and 0.08 (95%CI, 0.04-0.11) per 10,000 live births for type 1 and 2, respectively, in cases with a definitive diagnosis by genetic testing. We found that 363 cases (82.7%) occurred less than 2 years and 88 (20.0%) occurred age of 2 months old or under.
CONCLUSION
CONCLUSIONS
This study clarifies the prevalence and incidence of SMA in Japan. As infantile onset accounts for most cases of SMA, newborn screening and subsequent treatment are important to save lives.
Identifiants
pubmed: 34452804
pii: S0387-7604(21)00152-2
doi: 10.1016/j.braindev.2021.08.002
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2-16Informations de copyright
Copyright © 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Kayoko Saito is a site principal investigator for Biogen and Novartis Gene Therapies and Roche/ Chugai clinical trials; Kayoko Saito received a speaker’s fee from Biogen and Novartis and also received research funding from Biogen. The remaining authors declare no competing interests.