Aberrant parietal cortex developmental trajectories in girls with turner syndrome and related visual–spatial cognitive development: A preliminary study

Abstract

Turner syndrome (TS) arises from partial or complete absence of the X-chromosome in females. Girls with TS show deficits in visual–spatial skills as well as reduced brain volume and surface area in the parietal cortex which supports these cognitive functions. Thus, measuring the developmental trajectory of the parietal cortex and the associated visual–spatial cognition in TS may provide novel insights into critical brain-behavior associations. In this longitudinal study, we acquired structural MRI data and assessed visual–spatial skills in 16 (age: 8.23 ±2.5) girls with TS and 13 age-matched controls over two time-points. Gray and white matter volume, surface area and cortical thickness were calculated from surfaced based segmentation of bilateral parietal cortices, and the NEPSY Arrows subtest was used to assess visual–spatial ability. Volumetric and cognitive scalars were modeled to obtain estimates of age-related change. The results show aberrant growth of white matter volume (P =0.011, corrected) and surface area (P =0.036, corrected) of the left superior parietal regions during childhood in girls with TS. Other parietal sub-regions were significantly smaller in girls with TS at both time-points but did not show different growth trajectories relative to controls. Furthermore, we found that visual–spatial skills showed a widening deficit for girls with TS relative to controls (P =0.003). Young girls with TS demonstrate an aberrant trajectory of parietal cortical and cognitive development during childhood. Elucidating aberrant neurodevelopmental trajectories in this population is critical for determining specific stages of brain maturation that are particularly dependent on TS-related genetic and hormonal factor.

Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies

“…The structure of the parietal lobe [16–18] and its connectivity with other cortical regions (notably the frontal cortex) [19, 20] appear to differ between individuals with TS and controls. In addition, task-based [21–23] and resting-state [24] functional connectivity measures between the frontal and parietal cortex are reduced in girls with TS.…”

X-Chromosome Insufficiency Alters Receptive Fields across the Human Early Visual Cortex

“…Behavioral and brain imaging studies have reported dorsal visual stream atypicalities in TS. While a large body of research has documented atypicalities in the structure and function of posterior parietal cortex in TS (Lepage et al, 2013;Bray et al, 2013;Green et al, 2014) as well as its functionally connectivity to the frontoparietal attention network (Kesler and Reiss, 2006), accumulating evidence also suggests atypicalities to the cuneus and lingual gyrus, where V2 and V3 reside. For example, neuroimaging studies have shown that, compared with age-and sexmatched controls, both girls and adults with TS show (1) a reduction in volume of the lingual gyrus (Lepage et al, 2013), and the cuneus (Marzelli et al, 2011) and (2) reduced functional connectivity between the cuneus and the whole brain (Xie et al, 2015) as well as reduced functional connectivity within the frontoparietal network (Green et al, 2018).…”

“…TS is characterized by a specific cognitive profile with relative strengths in verbal domains and weaknesses in visuospatial and executive processing (Hong et al, 2009). Compared with typically developing controls, structural imaging of the brain shows smaller gray matter volume and surface area and larger thickness of the parieto-occipital cortex in prepubertal and adolescent girls as well as adults with TS (Raznahan et al, 2010;Lepage et al, 2013;Green et al, 2014). Beyond these anatomical differences, resting-state and task-based fMRI studies find aberrant brain activity in the dorsal visual stream (Mishkin et al, 1983) of girls with TS (Kesler and Reiss, 2006;Green et al, 2018).…”

The processing of number scales beyond whole numbers in development: Dissociations in arithmetic in Turner’s syndrome

“…Nonverbal cognition, visuo-perceptual and visuo-constructional (Green et al, 2014;Hong & Reiss, 2012) and executive skills are areas of core weakness in individuals with TS. Tactile-spatial ability has been reported as intact (Temple & Carney, 1995).…”