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A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis

Lookup NU author(s): Fumi Takeuchi, Sunil Rodger, Professor Katherine Bushby, Professor Hanns Lochmuller, Dr Harumasa Nakamura

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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


Abstract

© 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.


Publication metadata

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

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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