Psychological profile and behavioural characteristics in 12 patients with Prader-Willi syndrome.
In the present study medical, psychological and behavioural aspects in 12 patients with Prader-Willi syndrome (PWS), aged between 13 months and 28 years are presented. In half of the patients the diagnosis of PWS was made before the age of one year. The contribution of cytogenetic investigations with the detection of a 15q11 deletion in half of the PWS patients is discussed. In the evaluation of the intellectual performances IQ levels were spread between 45 and 95 with a mean IQ of 54. A specific behavioral profile in all patients with characteristic fluctuations with age was observed. Rapid changes in behaviour increased with age and after puberty, mostly related with withholding of food. The present study reinforces the importance of early diagnosis in the PWS with adequate and intelligible information towards the parents. It may prevent the dramatic obesity which leads to severe physical problems and psychological burdens in PWS adolescents and adults.
Borghgraef
M
M
Center for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Van Den Berghe
H
H
D000293:Adolescent; D000328:Adult; D001835:Body Weight / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007360:Intelligence; D008297:Male; D009483:Neuropsychological Tests; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*