Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome.
BACKGROUND
Prader-Willi syndrome (PWS) is a genetic disorder resulting in obesity, short stature, cryptorchidism, learning disabilities (mental retardation) and severe neonatal hypotonia. Associated with the syndrome are a number of behaviours that are sufficiently distinctive that the syndrome is considered to have a specific 'behavioural phenotype'.


METHODS
Through multiple sources we attempted to identify all people with PWS living in one region in the U K. This cohort was augmented by people with PWS from other regions, and a contrast group of people with learning disabilities of varied aetiologies. The main carers were interviewed, using structured and semi-structured interview schedules, to establish the presence and severity of specific behaviours, and PWS diagnostic criteria. The intellectual functioning and attainments of all were determined. Blood samples were obtained for genetic diagnosis from all consenting participants.


RESULTS
Although excessive eating was recognized as a potentially severe problem in those with PWS, it was almost universally controlled by food restriction, and therefore not seen as a 'problem behaviour'. Those with PWS differed from a learning disabled group of other aetiologies in the prevalence rates of skin picking, temper tantrums, compulsive behaviours and mood fluctuations, and also in the profile of their adaptive behaviours.


CONCLUSIONS
The study confirms the distinct behavioural phenotype of PWS. Specific behaviours occurred significantly more frequently in PWS, compared with an age and BMI matched learning disabled comparison group. A factor analysis of the behaviours involved resulted in three factors that we hypothesized to be independent, and to arise from different mechanisms.
Holland
A J
AJ
Section of Developmental Psychiatry, Department of Psychiatry, University of Cambridge.
Whittington
J E
JE
Butler
J
J
Webb
T
T
Boer
H
H
Clarke
D
D
D000223:Adaptation, Psychological; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002653:Child Behavior Disorders / Q000453:epidemiology / Q000235:genetics / Q000523:psychology; D002657:Child Development; D001068:Feeding and Eating Disorders / Q000453:epidemiology / Q000235:genetics / Q000523:psychology; D006801:Humans; D001523:Mental Disorders / Q000453:epidemiology / Q000235:genetics / Q000523:psychology*; D008960:Models, Psychological; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000453:epidemiology / Q000235:genetics / Q000523:psychology*; D012920:Social Behavior Disorders / Q000453:epidemiology / Q000235:genetics / Q000523:psychology; D006113:United Kingdom / Q000453:epidemiology