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.