A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention

Abstract

Sex chromosome trisomies (SCT) are among the most common chromosomal duplications in humans. Due to recent technological advances in non-invasive screening, SCT can already be detected during pregnancy. This calls for more knowledge about the development of (young) children with SCT. This review focused on neurocognitive functioning of children with SCT between 0 and 18 years, on domains of global intellectual functioning, language, executive functioning, and social cognition, in order to identify targets that could benefit from early treatment.Online databases were used to identify peer-reviewed scientific articles using specific search terms. In total 18 studies were included. When applicable, effect sizes were calculated to indicate clinical significance.Results of the reviewed studies show that although traditionally, the focus has been on language and intelligence (IQ) in this population, recent studies suggest that executive functioning and social cognition may also be significantly affected already in childhood.These findings suggest that neuropsychological screening of children diagnosed with SCT should be extended, to also include executive functioning and social cognition.Knowledge about these neurocognitive risks is important to improve clinical care and help identify targets for early support and intervention programs to accommodate for the needs of individuals with SCT.

Meta-analysis of metabolites involved in bioenergetic pathways reveals a pseudohypoxic state in Down syndrome

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Social functioning and emotion recognition in adults with triple X syndrome

“…The social impairments associated with TXS may be, in part, attributable to a delay in the development of speech and/or language, 2 , 5 , 28 as well as impaired cognitive processes such as attention and executive functioning, 29 two cognitive domains that have been associated with ASD. However, little is currently known regarding social cognition in adults with TXS.…”

Exploring academic and character strengths in students with sex chromosome aneuploidies

“…Trisomy SCAs (47,XXY/Klinefelter syndrome, 47,XYY/Jacob syndrome, 47,XXX/trisomy X) are more common and are associated with a more variable phenotypic presentation. Although the three trisomy conditions have substantial overlap in features, research has documented differences in patterns of weaknesses in cognitive-behavioral and motor profiles due to genetic and hormonal effects of having an extra X and/or Y chromosome (Urbanus et al, 2020). For example, children with 47,XYY tend to report stronger overall cognitive and motor skills, but more impaired language, increased hyperactivity, and higher rates of Journal of Positive School Psychology autism spectrum disorder (ASD) than children with extra X chromosomes (Leggett et al, 2010;Ross et al, 2009;Tartaglia et al, 2012;Tartaglia et al, 2017).…”