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Article Dans Une Revue Neurology Année : 2019

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Emmanuelle Lagrue
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Nathalie Bach
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Brigitte Chabrol
Marie Cuisset
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Julien Durigneux
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Caroline Espil
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Cécile Laroche-Raynaud
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Armelle Magot
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Julie Perrier-Boeswillald
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Sylviane Peudenier
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Sylvie Ragot-Mandry
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Christian Richelme
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Catherine Sarret
Catherine Vanhulle
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Dalil Hamroun

Résumé

OBJECTIVE: To genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management. METHODS: Among the 2,697 patients with genetically confirmed DM1 included in the French DM-Scope registry, children were enrolled between January 2010 and February 2016 from 24 centers. Comprehensive cross-sectional analysis of most relevant qualitative and quantitative variables was performed. RESULTS: We studied 314 children (52% females, with 55% congenital, 31% infantile, 14% juvenile form). The age at inclusion was inversely correlated with the CTG repeat length. The paternal transmission rate was higher than expected, especially in the congenital form (13%). A continuum of highly prevalent neurodevelopmental alterations was observed, including cognitive slowing (83%), attention deficit (64%), written language (64%), and spoken language (63%) disorders. Five percent exhibited autism spectrum disorders. Overall, musculoskeletal impairment was mild. Despite low prevalence, cardiorespiratory impairment could be life-threatening, and frequently occurred early in the first decade (25.9%). Gastrointestinal symptoms (27%) and cataracts (7%) were more frequent than expected, while endocrine or metabolic disorders were scarce. CONCLUSIONS: The pedDM-Scope study details the main genotype and phenotype characteristics of the 3 DM1 pediatric subgroups. It highlights striking profiles that could be useful in health care management (including transition into adulthood) and health policy planning.

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hal-02097112 , version 1 (11-04-2019)

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Emmanuelle Lagrue, Celine Dogan, Marie de Antonio, Frédérique Audic, Nathalie Bach, et al.. A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. Neurology, 2019, 92 (8), pp.e852-e865. ⟨10.1212/WNL.0000000000006948⟩. ⟨hal-02097112⟩
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