A population-based profile of 160 Australians with Prader-Willi syndrome: trends in diagnosis, birth prevalence and birth characteristics.

摘要: Perceived temporal trends in recognition and diagnosis of Prader–Willi syndrome served as the rationale for an updated epidemiological profile individuals with this syndrome. Data from Victorian Syndrome Register were used to explore birth prevalence, characteristics, timing diagnosis, molecular mechanism, identify over time. Maternal age, gestation, small gestational sex compared across mechanisms. Between 1951 2012 there 160 syndrome, known Register, who born Australian state Victoria. The prevalence a was estimated be 1:15,830 2003–2012. Compared 1973–1981, decade 2003–2012 saw increase rate 58% 96%, more complete identification mechanism (42% vs. 83%), earlier (1.3 years 8.6 weeks), rise relative proportion maternal uniparental disomy 0% 45%. One quarter infants preterm 53% age. This study confirms change diagnostic patterns, suggests greater contribution provides robust estimate evidence utero growth restriction group. These findings have important clinical health service delivery implications pave way further research © 2014 Wiley Periodicals, Inc.