title: Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome.
abstract: OBJECTIVE
  To contrast the behavioral and social phenotypes including a screen for autistic behaviors in boys with 47,XYY syndrome (XYY) or 47,XXY Klinefelter syndrome (KS) and controls and investigate the effect of prenatal diagnosis on the phenotype.
  
  
  METHODS
  Patients included 26 boys with 47,XYY, 82 boys with KS, and 50 control boys (ages 4-15 years). Participants and parents completed a physical examination, behavioral questionnaires, and intellectual assessments.
  
  
  RESULTS
  Most boys with XYY or KS had Child Behavior Checklist parental ratings within the normal range. On the Child Behavior Checklist, mean problem behaviors t scores were higher in the XYY versus KS groups for the Problem Behavior, Externalizing, Withdrawn, Thought Problems, and Attention Problems subscales. On the Conners' Parent Rating Scale-Revised, the XYY versus KS group had increased frequency of hyperactive/impulsive symptoms (P < .006). In addition, 50% and 12% of the XYY and KS groups, respectively, had scores >15 for autism screening from the Social Communication Questionnaire. For the boys with KS, prenatal diagnosis was associated with fewer problem behaviors.
  
  
  CONCLUSIONS
  A subset of the XYY and KS groups had behavioral difficulties that were more severe in the XYY group. These findings could guide clinical practice and inform patients and parents. Boys diagnosed with XYY or KS should receive a comprehensive psychoeducational evaluation and be screened for learning disabilities, attention-deficit/hyperactivity disorder, and autism spectrum disorders.
authors.affiliation: Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA. judith.ross@jefferson.edu
authors.forename: Judith L
authors.initials: JL
authors.lastname: Ross
authors.forename: David P
authors.initials: DP
authors.lastname: Roeltgen
authors.forename: Harvey
authors.initials: H
authors.lastname: Kushner
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Zinn
authors.forename: Allan
authors.initials: A
authors.lastname: Reiss
authors.forename: Martha Zeger
authors.initials: MZ
authors.lastname: Bardsley
authors.forename: Elizabeth
authors.initials: E
authors.lastname: McCauley
authors.forename: Nicole
authors.initials: N
authors.lastname: Tartaglia
mesh_terms: D000293:Adolescent; D000294:Adolescent Behavior; D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002652:Child Behavior; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009483:Neuropsychological Tests; D010641:Phenotype; D014997:XYY Karyotype / Q000175:diagnosis / Q000235:genetics*