Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1.
Federica Trucco, Emilio Albamonte, Marika Pane and 9 others
PMID 39231278WHAT IT FOUND
Half of parents in this series did not know they had myotonic dystrophy type 1 until their child was diagnosed.
Children with the congenital form faced severe early breathing and feeding issues, while both groups showed high rates of delayed speech and low cognitive scores.
Key findings
01In 50% of couples, the diagnosis of myotonic dystrophy type 1 was not known until after the child was born, with half of mothers of children with the congenital form diagnosed only because of their infant's condition.
02Children with congenital onset had severe perinatal complications, including hypotonia (93%), feeding issues (91%), and respiratory distress (75%), leading to neonatal intensive care admission in 91% of cases.
03Speech delay was identified in 79% of children with congenital onset and 46% of those with childhood onset, while an IQ below 70 was found in 83% and 36% of these groups respectively.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
The study is a descriptive case series without a control group, so it cannot prove that diagnostic delay caused specific outcomes. Data were collected retrospectively from medical charts, meaning some information on parental decision-making and specific clinical interventions was missing. The sample was drawn from highly specialized tertiary care centres, which may not represent the broader population of patients with myotonic dystrophy type 1. Neonatal support techniques may have improved over the long data collection period (2010–2022), potentially skewing comparisons between early and later cohorts.
Declared interests
The authors declared no conflicts of interest. The study was funded by Fondazione Telethon.
The easy way to misread this
Do not assume that genetic test results (CTG repeat length) can accurately predict the severity of cognitive or physical outcomes in a specific child. The paper notes a lack of correlation between repeat expansion size and disease severity, making prognosis based on genetics alone unreliable.