title: Neonatal respiratory depression and delay in diagnosis in Prader-Willi syndrome.
abstract: The authors retrospectively evaluated the diagnoses at four months of age for 48 individuals with known Prader-Willi syndrome. 15 had been diagnosed as having cerebral palsy, and at four months only two of the 48 had been correctly diagnosed as Prader-Willi syndrome. 11 (23 per cent) had had birth asphyxia, compared with an expected rate of 1 per cent. Other perinatal features which occurred more frequently than expected included breech presentation, decreased fetal movements and prolonged gestation. Failure to make an early diagnosis of Prader-Willi syndrome often results in later disability being blamed on the birth process, when instead the child's neonatal problems are secondary to a prenatal condition.
authors.affiliation: Birth Defects Service, Children's Hospital, Harvard Medical School.
authors.forename: R H
authors.initials: RH
authors.lastname: Wharton
authors.forename: M J
authors.initials: MJ
authors.lastname: Bresnan
mesh_terms: D000293:Adolescent; D000328:Adult; D001238:Asphyxia Neonatorum / Q000150:complications / Q000175:diagnosis*; D001925:Brain Damage, Chronic / Q000175:diagnosis; D002547:Cerebral Palsy / Q000175:diagnosis; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D011218:Prader-Willi Syndrome / Q000150:complications* / Q000175:diagnosis; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis