A survey of 22 individuals with Prader-Willi syndrome in New South Wales

Aust Paediatr J. 1989 Feb;25(1):43-6. doi: 10.1111/j.1440-1754.1989.tb01412.x.


Twenty-two individuals with Prader-Willi Syndrome in New South Wales were surveyed. The results show that males were diagnosed at a significantly earlier age than females and suggest a recent trend towards earlier diagnosis. The advantages of early diagnosis are discussed. In those in whom cytogenetic studies had been performed, 47% were found to have a deletion involving chromosome 15q11-13. Profound neonatal hypotonia had been present in all cases. Obesity became apparent between 1.5 and 10 years (mean = 3.8 years). Facial dysmorphism was reported in 83% and acromicria in 100%. Sixty-two per cent of subjects were regarded as less pigmented than first degree relatives. Cognitive assessments were performed on nine subjects. Two (22%) were functioning in the normal range of intelligence. Behaviour problems, both food-related and non-food-related, were present in the majority and placed considerable stress on the family caring for the individual with Prader-Willi Syndrome.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 15
  • Feeding and Eating Disorders / etiology
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • New South Wales
  • Prader-Willi Syndrome / complications
  • Prader-Willi Syndrome / diagnosis*
  • Prader-Willi Syndrome / genetics