TY - JOUR
T1 - Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY klinefelter syndrome
AU - Ross, Judith L.
AU - Roeltgen, David P.
AU - Kushner, Harvey
AU - Zinn, Andrew R.
AU - Reiss, Allan
AU - Bardsley, Martha Zeger
AU - McCauley, Elizabeth
AU - Tartaglia, Nicole
PY - 2012/4
Y1 - 2012/4
N2 - 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mean problem behaviors t scores were higher in the XYY versus KS groups for the Problem Behavior, Externalizing, Withdrawn, Thought Problems, and Attention Problems subscales.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.
AB - 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.
KW - ADHD
KW - Autism
KW - Klinefelter syndrome
KW - XXY
KW - XYY
UR - http://www.scopus.com/inward/record.url?scp=84859391666&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84859391666&partnerID=8YFLogxK
U2 - 10.1542/peds.2011-0719
DO - 10.1542/peds.2011-0719
M3 - Article
C2 - 22412026
AN - SCOPUS:84859391666
SN - 0031-4005
VL - 129
SP - 769
EP - 778
JO - Pediatrics
JF - Pediatrics
IS - 4
ER -