Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

• Published in: Pediatrics (Evanston) 2012-04, Vol.129 (4), p.769-778
• Main Authors: ROSS, Judith L, ROELTGEN, David P, KUSHNER, Harvey, ZINN, Andrew R, REISS, Allan, ZEGER BARDSLEY, Martha, MCCAULEY, Elizabeth, TARTAGLIA, Nicole
• Format: Article
• Language: English
• Subjects: Adolescent; Adolescent Behavior; Attention Deficit Disorder with Hyperactivity - diagnosis; Attention Deficit Disorder with Hyperactivity - genetics; Autism; Behavior; Behavior problems; Behavioral assessment of children; Behaviour problems; Biological and medical sciences; Boys; Causes of; Child; Child Behavior; Child Development Disorders, Pervasive - diagnosis; Child Development Disorders, Pervasive - genetics; Child, Preschool; Childhood behavioral assessment; Childhood behavioural assessment; Chromosome aberrations; Diagnosis; General aspects; Genetic Testing - methods; Genotype & phenotype; Humans; Karyotyping; Klinefelter syndrome; Klinefelter Syndrome - diagnosis; Klinefelter Syndrome - genetics; Klinefelter's syndrome; Male; Medical genetics; Medical sciences; Methods; Miscellaneous; Neuropsychological Tests; Pediatrics; Phenotype; Psychological aspects; Public health. Hygiene; Public health. Hygiene-occupational medicine; Questionnaires; Risk factors; Special; XYY Karyotype - diagnosis; XYY Karyotype - genetics
• ISSN: 0031-4005; 1098-4275
• DOI: 10.1542/peds.2011-0719

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. 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. 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mean problem behaviors t scores were higher in the XYY versus KS groups for the Problem Behavior, Externalizing, Withdrawn, Thought Problems, and Attention Problems subscales.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. 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.