ArticleDevelopmental medicine and child neurology2025
Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1.
Article in Developmental medicine and child neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Aberrant neuronal differentiation and splicing defects in Congenital Myotonic Dystrophy (DM1) iPSC models.bioRxiv : the preprint server for biology · 2026Article
- [Two cases of congenital myotonic dystrophy type 1 caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Toward Trial Readiness in Congenital Myotonic Dystrophy: A Longitudinal Cohort Study of Predictors of Motor Function in Childhood.Neurology. Genetics · 2026Article
- Societal Costs, Healthcare Utilisation and Labour Market Affiliation of Persons With Adult-Onset Myotonic Dystrophy Type 1 (DM1)-A Register-Based Study II.European journal of neurology · 2025Article
- Multiorgan Involvement and Mortality in Individuals With Adult-Onset Myotonic Dystrophy (DM1)-A Danish Register-Based Study I.European journal of neurology · 2025Article
- Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1.Developmental medicine and child neurology · 2025Article
- Neonatal congenital myotonic dystrophy with DMPK gene expansion: clinical features and short-term outcomes.Frontiers in pediatrics · 2025Article
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Authors and funding
13 authors.
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Abstract
aimTo investigate the timing of type 1 myotonic dystrophy (DM1) diagnosis in parents of affected children and describe children's perinatal characteristics and developmental outcomes.
methodThis was a descriptive case series of children with congenital myotonic dystrophy (CDM) and childhood-onset myotonic dystrophy (ChDM). Parental timing of DM1 diagnosis and the perinatal, motor, and cognitive outcomes of paediatric patients were recorded.
resultsA total of 139 children followed by 12 highly specialized tertiary care neuromuscular centres in Italy and one tertiary neuromuscular centre in the USA were included: 105 children with CDM and 34 children with ChDM (mean age 8 years 8 months and 12 years 2 months respectively; 49 males and 17 males respectively). Seventy (50%) parents were diagnosed with adult-onset DM1 after the affected child was diagnosed. Only 12 (17%) of the 69 parents known to be affected had prenatal testing. Of the 105 children with CDM, 98% had maternally inherited CDM, 36% were born preterm, 83% required a stay in the neonatal intensive care unit for more than 48 hours, 84% and 79% had ambulation and speech delay, and 84% had an IQ lower than 70. Of the 34 children with ChDM, 59% had paternally inherited ChDM, 91% were born at term, and 36% had an IQ lower than 70.
interpretationDelay in diagnosing DM1 affects family planning. The prenatal and perinatal outcomes of the affected offspring emphasize the need for proactive counselling as parents may be reluctant to conduct prenatal testing.
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