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

Urbanus, E.L.; Rijn, S. van; Swaab, H.

doi:doi:10.1111/cge.13586

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...Show moreSex 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.
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A review of neurocognitive functioning of children with sex chromosome trisomies: identifying targets for early intervention

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