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Review
. 2010 Dec;8 Suppl 1(0 1):151-9.

The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome)

Nicole Tartaglia  1 , Lisa Cordeiro, Susan Howell, Rebecca Wilson, Jennifer Janusz
Affiliations
Review

The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome)

Nicole Tartaglia et al. Pediatr Endocrinol Rev. 2010 Dec.

Abstract

The behavioral phenotype of 47,XXY (Klinefelter syndrome) includes increased risks for developmental delays, language-based learning disabilities, executive dysfunction/ADHD, and socialemotional difficulties. However there is significant variability between individuals with 47,XXY, and many children and adolescents have minimal or no behavioral features while others have quite significant involvement. This paper describes behavioral features in a cohort of 57 children and adolescents with 47,XXY, including results on standardized measures of behavior (BASC-2), attention (Conner's Rating Scales), and social skills (Social Responsiveness Scale). A subset was directly assessed for autism spectrum disorders using the ADOS and ADIR. We discuss our results within the context of previous literature, including implications for genetic counseling, recommendations for care, and areas for future research.

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Conflict of interest statement

Disclosure

The authors of this article declare no conflict of interest.

Figures

Figure 1
Figure 1
Estimated Full-Scale IQ (FSIQ) distribution for individuals with 47, XXY compared to controls. Adapted and reprinted with permission from Bender et al, 1986.
Figure 2
Figure 2
Distribution of scores on the clinical scales of the BASC
Figure 3
Figure 3
Distribution of scores on the adaptive scales of the BASC.
Figure 4
Figure 4
Categorical diagnosis of ADHD in 47,XXY based on parent report of DSM-IV ADHD diagnostic criteria
Figure 5
Figure 5
Distribution of scores in the social responsiveness domains of the SRS
Figure 6
Figure 6
Categorical diagnosis of autism spectrum disorders in a subset of 20 participants assessed using the ADOS and ADI-R.
See this image and copyright information in PMC

References

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