Abstract
ObjectivePatients with congenital myotonic dystrophy (CDM) tend to be born preterm. Although the CDM severity generally depends on the CTG repeat length, prematurity may also affect the prognosis in patients with CDM. Given that preterm birth is expected to increase the risk of CDM in newborns, we investigated the outcomes of newborns with CDM according to gestational age to assess prematurity and the CTG repeat length for predicting prognosis.ResultsWe assessed the outcomes of 54 infants with CDM using data collected from our hospitals and previously published studies. The patients were divided into mild and severe groups based on clinical outcomes. Logistic regression analysis was performed to estimate odds ratios (ORs) for CDM prognosis according to gestational age and the CTG repeat length and to construct a predictive model. Logistic regression analysis showed both the CTG repeat and gestational age were significantly associated with severe outcomes in patients with CDM (OR: 32.27, 95% CI 3.45–300.7; p = 0.002 and OR: 0.73, 95% CI 0.58–0.93; p = 0.0094, respectively). This predictive model for CDM prognosis exhibited good sensitivity (63%) and specificity (86%). Both prematurity and the CTG repeat length were significantly associated with the CDM severity.
Highlights
Myotonic dystrophy type 1 (DM1, OMIM #160900) is an autosomal dominant disorder that affects skeletal and smooth muscles as well as the respiratory, gastrointestinal systems
Logistic regression analysis showed both the CTG repeat and gestational age were significantly associated with severe outcomes in patients with Congenital DM (CDM)
300.7; p = 0.002 and odds ratios (ORs): 0.73, 95% confidence interval (CI) 0.58–0.93; p = 0.0094, respectively). This predictive model for CDM prognosis exhibited good sensitivity (63%) and specificity (86%). Both prematurity and the CTG repeat length were significantly associated with the CDM severity
Summary
We analyzed data on 22 CDM infants from our hospitals and 31 patients from previous studies [17–33]. The median gestational age at delivery was. CTG repeat length and gestational age were significantly associated with severe outcome of CDM patients Discriminant line, on which the probability of an infant will be classified into each outcome is the same, derived using this analysis was following: log CTG repeat length = 0.0890. Taking exponential transform of both sides leads to CTG repeat length = 2(0.0890× Gestational age (weeks) +8.15). According to this discriminant curve, CDM patients were divided into two groups based on their predictive prognosis: favorable and unfavorable groups (Fig. 1). This equation provided 63% sensitivity, 86% specificity, and a
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