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Lookup NU author(s): Fumi Takeuchi, Sunil Rodger, Emerita Professor Katherine Bushby, Professor Hanns Lochmuller, Dr Harumasa Nakamura
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).
© 2017 The Authors. Early diagnosis of Duchenne muscular dystrophy (DMD) is widely advocated to initiate proactive interventions and genetic counselling. Genetic testing now allows the diagnosis of DMD even prior to the onset of symptoms. However, little is known about care practices and their impact on young DMD boys and families after receiving an early diagnosis. We analysed 64 young boys (Japan, 19; the United Kingdom, 10; Germany, 18; Hungary, 6; Poland, 5; and the Czech Republic, 6) aged <5 years and diagnosed at ≤2 years old among the participants of the cross-sectional study about care practice in DMD. A combination of elevated serum creatine kinase and genetic testing usually led to the diagnosis (n = 31, 48%); 41 boys visited neuromuscular clinics more than once a year. Early diagnosis did not generally result in higher satisfaction among DMD families, and country-specific differences were observed. Psychosocial support following early diagnosis was perceived as insufficient in most countries, and deficits in access and uptake of genetic counselling resulted in lower satisfaction in the Japanese cohort. In conclusion, seamless and comprehensive support for DMD families following early diagnosis at presymptomatic stages should be taken into consideration if early genetic testing or newborn screening is made available more widely.
Author(s): Takeuchi F, Komaki H, Yamagata Z, Maruo K, Rodger S, Kirschner J, Kubota T, Kimura E, Takeda S, Gramsch K, Vry J, Bushby K, Lochmuller H, Wada K, Nakamura H
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2017
Volume: 27
Issue: 10
Pages: 894-904
Print publication date: 01/10/2017
Online publication date: 06/07/2017
Acceptance date: 30/06/2017
Date deposited: 11/10/2017
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
URL: https://doi.org/10.1016/j.nmd.2017.06.557
DOI: 10.1016/j.nmd.2017.06.557
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