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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
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.
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“We confirmed the tandem repeat expansions in these 10 genes using another tandem repeat detection algorithm, ExpansionHunter47,48, as well as by visualizing read pile-ups and by gel electrophoresis and Sanger sequencing”
From Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) · cites this paper as [47]
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Metadata
- Authors
- Lagrue, E., Dogan, C., De Antonio, M., Audic, F., Bach, N., Barnerias, C., Bellance, R., Cances, C., Chabrol, B., Cuisset, J.-M., Desguerre, I., Durigneux, J., Espil, C., Fradin, M., Héron, D., Isapof, A., Jacquin-Piques, A., Journel, H., Laroche-Raynaud, C., Laugel, V., Magot, A., Manel, V., Mayer, M., Péréon, Y., Perrier-Boeswillald, J., Peudenier, S., Quijano-Roy, S., Ragot-Mandry, S., Richelme, C., Rivier, F., Sabouraud, P., Sarret, C., Testard, H., Vanhulle, C., Walther-Louvier, U., Gherardi, R., Hamroun, D., & Bassez, G.
- Affiliations
- Université de Tours (FR)
- From CHRU de Tours (E.L.), Université François Rabelais de Tours, INSERM U1253, Tours; Neuromuscular Reference Center (C.D., M.D.A., R.G.), AP-HP, Hôpital Pitié-Salpêtrière, Paris; Inserm UMRS872 (M.D.A.), team22, Centre de recherche des Cordeliers, Paris; Service de neurologie pédiatrique (F.A.), pneumologie pédiatrique et médecine infantile, Hôpital de La Timone, Marseille; Service de pédiatrie médicale (N.B.), pôle Femme Enfant, CHU, Caen; Consultation myologie (C.B., I.D.), Cliniques des...
- ORCID
- Audic, Frédérique
- Bellance, Rémi
- Chabrol, Brigitte
- Desguerre, Isabelle
- Durigneux, Julien
- Fradin, Mélanie
- Héron, Delphine
- Isapof, Arnaud
- Laugel, Vincent
- Magot, Armelle
- Péréon, Yann
- Peudenier, Sylviane
- Quijano-Roy, Susana
- Richelme, Christian
- Rivier, François
- Sarret, Catherine
- Testard, Hervé
- Vanhulle, Catherine
- Gherardi, Romain
- Hamroun, Dalil
- Bassez, Guillaume
- Venue
- Neurology
- Published
- 2019-02-19
- Volume
- 92
- Issue
- 8
- Pages
- e852-e865
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2909852424
- Cited by
- 76
- References
- 47
- Citations by year
- 2026: 6 · 2025: 10 · 2024: 14 · 2023: 12 · 2022: 11 · 2021: 5 · 2020: 10 · 2019: 7
- FWCI
- 3.94
- Type
- journal article
- Language
- en
- Update notices
- correction (2020-02-06)
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- myotonic dystrophy type 1, CTG repeat expansion, paternal transmission, congenital myotonic dystrophy, neurodevelopmental disorders, cognitive slowing, attention deficits, language disorders, autism spectrum disorder, gastrointestinal symptoms, cataract, coming of age, phenotypic characterization
- MeSH terms
- Adolescent, Arrhythmias, Cardiac, Child, Child, Preschool, Female, Foot Deformities, France, Humans, Infant, Infant, Newborn, Male, Myotonic Dystrophy, Registries, Respiratory Insufficiency, Severity of Illness Index, Muscle Weakness, Evidence-Based Medicine, Trinucleotide Repeat Expansion
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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