The burden of disease for children born alive with Turner syndrome--A European cohort study

Background:Turner syndrome is a rare congenital anomaly caused by com-plete or partial X chromosome monosomy that may affect mortality and mor-bidity in childhood.Methods:This population-based data-linkage cohort study, as part of the EURO-linkCAT project, investigated mortality and morbidity for the first 5 years of lifefor liveborn European children diagnosed with Turner syndrome. Thirteenpopulation-based registries in 10 countries from the European surveillance of con-genital anomalies (EUROCAT) network participated. Data on children born1995-2014 and diagnosed with Turner syndrome were linked to mortality, hospital and prescription records. Children with any congenital anomaly and chil-dren without a congenital anomaly were included for comparison on morbidity.Results:Out of a population of 5.8 million livebirths 404 were diagnosed withTurner syndrome prenatally or in infancy and 95.5% survived to their fifthbirthday. During the first year of life 72.3% (95% CI 59.5;81.6) of children withTurner syndrome were hospitalized, the median length of stay was 5.6 days(95% CI 3.5;7.7) and 18.7% (95% CI 13.9;23.9) underwent surgery. After the firstyear of life hospitalizations and length of stay decreased but more childrenunderwent surgery (30.8% [95% CI 17.6;44.7]). In the first 5 years the percent-age of children with Turner syndrome having a prescription for antibiotics was12%-20% per year and increased with the age of child.Conclusions:In the first year of life, the burden of disease was relatively highfor children with Turner syndrome. The outlook is more positive beyond thefirst year, though overall morbidity still exceeded that of children without con-genital anomalies.