Cognition, Academic Achievement, Adaptive Behavior, and Quality of Life in Child and Adolescent Boys with Klinefelter Syndrome

作者：Tracy L. Jordan, Lara C. Foland‐Ross, Vanessa Lozano Wun, Judith L. Ross, Allan L. Reiss · 发表于：Journal of Developmental & Behavioral Pediatrics · 年份：2023 · DOI：10.1097/dbp.0000000000001201 · 被引用次数：13 · 研究领域：Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities、Sexual Differentiation and Disorders、Hypothalamic control of reproductive hormones

OBJECTIVE: Klinefelter syndrome (KS; 47, XXY), the most common sex chromosome aneuploidy in males, is characterized by testicular failure and testosterone deficiency as well as a variety of cognitive, social, and emotional challenges. In the current study, we aimed to clarify the cognitive-behavioral profile of peripubertal boys with KS using measures of cognition, academic achievement, adaptive behavior, and quality of life. METHOD: We compared 47 boys with KS (7-16 years of age) with 55 performance IQ-matched boys without KS on measures of cognition (WISC-V), executive function (BRIEF-2), academic achievement (KTEA-3), adaptive behavior (Vineland-3), and quality of life (PROMIS). In exploratory analyses, we examined associations among these measures and potential associations with pubertal metrics. RESULTS: Boys with KS demonstrated a significantly different profile of cognition, behavioral ratings of executive function, academic achievement, adaptive behavior, and quality of life compared with their typically developing peers, with, on average, lower functioning. The groups showed significantly different correlations between cognition and aspects of quality of life. No associations were observed between behavior and pubertal development. CONCLUSION: Taken together, these findings indicated that boys with KS are at increased risk for cognitive difficulties, which may affect academic achievement, adaptive behavior, and quality of life. Although initial exploratory analyses i...