Relationship Between Brain and Cognitive Processes in Down Syndrome

Abstract

We investigated regional grey matter (GM) density in adolescents with Down syndrome (DS) compared to age-matched controls and correlated MRI data with neuropsychological measures in the DS group. Inter-group comparisons documented several GM concentration abnormalities in the participants with DS compared to controls. In the adolescents with DS, intra-group results also showed associations between regional GM density and the neuropsychological measures considered. In particular, GM density of the cerebellum and middle and inferior temporal gyrus was associated with linguistic measures. Short-term memory performances were correlated with the inferior parietal lobule, insula, superior temporal gyrus, medial occipital lobe, and cerebellum. Long-term memory abilities were correlated with GM density in the orbitofrontal cortex, lateral and medial temporal lobe regions, and anterior cingulum and visuo-perceptual abilities with GM density the left middle frontal gyrus. Results of this preliminary study are consistent with a not always efficient brain organization in DS.

Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice

“…After Pennington's seminal paper (Pennington et al 2003 )we have seen arguments on the role of the hippocampus in cognitive dysfunction in patients with TRS21 (Menghini et al 2011 ) as well as in mouse models (Smith et al 1997 ;Yu et al 2010b ). Our findings confirm the hypothesis but cast a different light on conclusions drawn.…”

“…We therefore chose to use tests to produce a wide range of cognitive measures, following the analyze by Milner, Squire and Kandel (Milner et al 1998 ). We also tested motor activity as atypical motor development was included in traits reported by Jackson (Jackson et al 1976 ); and we performed volumetric measurement of brain structures as observations of human patients showed the HSA21 triple copy to have a strong effect on a number of brain structures (Menghini et al 2011 ;Roubertoux and Carlier 2009 ). We used four strains of mice integrating extra copies of fragments covering D21S17-ETS2 (Smith et al 1997 ) to test the heterogeneous profile hypothesis.…”

Avances Citogenéticos y Neurobiológicos en el Síndrome de Down

“…Interestingly, some recent studies have linked these alterations in specific regions with certain characteristics of the neuropsychological profile of individuals with DS. Specifically, lower volume in the frontal and cerebellar regions have been linked with executive deficits and problems of fluency and verbal production showed by people with DS compared with people with intellectual disabilities due to other etiologies or of unknown origin (Lott & Dierssen, 2010;Menghini et al, 2011;Pearlson et al, 1998;). The lower volume on temporal cortical and subcortical regions (amygdala, hippocampus and temporal lobe) with verbal comprehension difficulties, memory and larger deficit presented in purely perceptual processing aspects such as color and shape (Krasuski, Alexander, Horwitz, Rapoport & Schapiro, 2002; White et al, 2003).…”

“…In addition to its relationship with intellectual disability, regular trisomy appears to lead to a specific neuropsychological profile (Kittler, Krinsky-McHale & Devenny, 2006;Menghini, Costanzo & Vicari, 2011;Ruggieri & Arberas, 2003), mainly characterized by : a) deteriorated language skills, affecting this impairment more to the production than to the comprehension, as well as to the phonological and morphological domain than the semantic and pragmatic (Filder, Philofsky & Hepburn, 2007;Galeote, Soto, Sebastián, Rey & Checa, 2012;Vicari, Caselli, Gagliardi, Tonucci anales de psicología, 2014, vol. 30, nº 1 (enero) & Volterra, 2002); b) a visuospatial skills characterized by the presence of a dissociation between processing of perceptual aspects such as color and shape, that would be very deteriorated, and spatial processing, that would be best preserved (Jarrold, Nadel & Vicari 2008;Silverman, 2007;Vicari, 2006); c) a executive dysfunction especially in subprocesses, such as working memory for verbal material (Edgin, Pennington & Mervis, 2010;Lanfranchi, Jerman, Dal, Alberti & Vianello, 2010;Rowe, Lavender & Turk, 2006) and d) a deterioration in episodic memory linked to advancing age (Krinsky-McHale, Kittler, Brown, Jenkins & Devenny, 2005;Vicari, 2004).…”

The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome.

“…Research on individuals with DS in comparison to CAmatched TD controls has indicated, relative to total brain gray-matter volume, no significant differences in bilateral amygdala gray-matter volume [94,95] but significantly increased gray-matter volume for bilateral caudate nucleus, bilateral frontal superior gyrus and bilateral insula [96]. Findings from studies of individuals with WS have indicated that, relative to total brain graymatter volume, the gray matter volume of the amygdalae was significantly larger bilaterally for individuals with WS who had ID than for CA-matched TD controls [97][98][99], but did not differ significantly from TD CAmatched controls for individuals with WS who had low average or average IQ [100].…”