title: Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37203, USA. elisabeth.dykens@vanderbilt.edu
authors.forename: Elisabeth M
authors.initials: EM
authors.lastname: Dykens
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Roof
mesh_terms: D000223:Adaptation, Psychological; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D006801:Humans; D006963:Hyperphagia / Q000453:epidemiology*; D008297:Male; D001523:Mental Disorders / Q000453:epidemiology*; D008875:Middle Aged; D015588:Observer Variation; D009771:Obsessive-Compulsive Disorder / Q000175:diagnosis / Q000453:epidemiology*; D011218:Prader-Willi Syndrome / Q000453:epidemiology* / Q000235:genetics*; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C109916:CYFIP1 protein, human