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Behavior in Prader‐Willi syndrome: relationship to genetic subtypes and age
Author(s) -
Dykens Elisabeth M.,
Roof Elizabeth
Publication year - 2008
Publication title -
journal of child psychology and psychiatry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.652
H-Index - 211
eISSN - 1469-7610
pISSN - 0021-9630
DOI - 10.1111/j.1469-7610.2008.01913.x
Subject(s) - psychology , developmental psychology , clinical psychology
Background: Some behavioral features of Prader‐Willi syndrome (PWS) are associated with the major genetic subtypes of this disorder. While most agree that those with maternal uniparental disomy (UPD) have a distinctive cognitive and psychiatric profile, findings are more controversial regarding possible differences among persons who vary in paternal deletion size. Methods: Caregivers of 88 persons with PWS aged 5 to 51 years ( M = 22 years) were administered measures of problem behavior, compulsivity, hyperphagia, and adaptive skills. The sample was well characterized as having relatively large, Type I ( n = 26) or smaller, Type II ( n = 29) deletions, or UPD ( n = 33). Results: No significant behavioral differences were found between the Type I versus Type II deletion groups. Within each genetic subtype, however, differences emerged in how advancing age related to behavior. Although age did not emerge as a significant correlate of behavior in the Type II or UPD groups, in the Type I group age was consistently associated with lower problem behaviors, adaptive skills, and externalizing symptoms. Conclusion: Although differences between deletion subtypes were not found, significant within‐subtype differences emerged in relationships between age and behavior. Negative associations between age and behavior in the Type I group only may relate to non‐imprinted genes that are deleted in Type I but not Type II cases, including CYFIP1. Altered expression of CYFIP1 is seen in other developmental disabilities, including 15q disorders, and haploinsufficiency of CYFIP1 in Type I PWS cases may be associated with age‐related phenotypic effects. Findings underscore the importance of a life‐span perspective in phenotypic research.