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. 2023 Sep 1;44(7):e476-e485.
doi: 10.1097/DBP.0000000000001201.

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

Tracy L Jordan  1 , Lara C Foland-Ross  1 , Vanessa L Wun  2 , Judith L Ross  3 , Allan L Reiss  1   4   5
Affiliations

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

Tracy L Jordan et al. J Dev Behav Pediatr. .

Abstract

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 indicated that the magnitude of these alterations was not correlated with severity of testicular failure, longitudinal analyses currently being conducted by our group may help clarify the trajectory of these difficulties through the pubertal transition and testosterone replacement.

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Conflict of interest statement

Disclosure: Supported by the National Institutes of Health (National Institute of Child Health and Human Development, R01 HD092847). The authors declare no conflict of interest.

Figures

Figure 1.
Figure 1.
Box plots for WISC-V index scores (reported as standard scores with a mean of 100 and standard deviation of 15 in the normative sample) by group.
Figure 2.
Figure 2.
Pearson correlations between (a) WISC-V Fluid Reasoning Index and PROMIS Life Satisfaction as well as PROMIS Peer Relationships and (b) WISC-V Working Memory Index and PROMIS Life Satisfaction as well as PROMIS Peer Relationships.
Figure 2.
Figure 2.
Pearson correlations between (a) WISC-V Fluid Reasoning Index and PROMIS Life Satisfaction as well as PROMIS Peer Relationships and (b) WISC-V Working Memory Index and PROMIS Life Satisfaction as well as PROMIS Peer Relationships.
See this image and copyright information in PMC

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