A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. (19th February 2019)

• Record Type: Journal Article
• Authors: Lagrue, Emmanuelle; Dogan, Céline; De Antonio, Marie; Audic, Frédérique; Bach, Nathalie; Barnerias, Christine; Bellance, Rémi; Cances, Claude; Chabrol, Brigitte; Cuisset, Jean-Marie; Desguerre, Isabelle; Durigneux, Julien; Espil, Caroline; Fradin, Mélanie; Héron, Delphine; Isapof, Arnaud; Jacquin-Piques, Agnès; Journel, Hubert; Laroche-Raynaud, Cécile; Laugel, Vincent; Magot, Armelle; Manel, Véronique; Mayer, Michèle; Péréon, Yann; Perrier-Boeswillald, Julie; Peudenier, Sylviane; Quijano-Roy, Susana; Ragot-Mandry, Sylvie; Richelme, Christian; Rivier, François; Sabouraud, Pascal; Sarret, Catherine; Testard, Hervé; Vanhulle, Catherine; Walther-Louvier, Ulrike; Gherardi, Romain; Hamroun, Dalil; Bassez, Guillaume;
• Is Part Of: Neurology. Volume 92:Number 8(2019)
• Publication Date: 2019-02-19
• Subjects: Neurology -- Periodicals; Neurology -- Periodicals; Neurologie -- Périodiques; 616.8
• DOI: 10.1212/WNL.0000000000006948
• Languages: English
• ISSNs: 0028-3878

Abstract

Abstract : 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.