Effects of X-monosomy and X-linked imprinting on superior temporal gyrus morphology in Turner syndrome

Kesler, Shelli R.; Blasey, Christine; Brown, Wendy E.; Yankowitz, Jerome; Zeng, She Min; Bender, Bruce G.; Reiss, Allan L.

doi:10.1016/s0006-3223(03)00289-0

Cited by 91 publications

(86 citation statements)

References 79 publications

(96 reference statements)

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“…Several structural imaging studies have found specific temporal lobe abnormalities in Turner syndrome, such as alterations in temporal lobe fibre tracts (Molko et al ., 2004) and larger superior temporal gyri, suggesting the disruption of neural pruning mechanisms during development (Kesler et al ., 2003). These temporal lobe abnormalities have been suggested to possibly underlie deficits in language tasks such as semantic fluency in Turner syndrome (Rae et al ., 2004), which may require greater executive demand than reading tasks where individuals with Turner syndrome have been found to perform normally (Temple and Carney, 1996).…”

Section: Discussionmentioning

confidence: 99%

Visuospatial executive function in Turner syndrome: functional MRI and neurocognitive findings

Hart¹,

Davenport²,

Hooper³

et al. 2006

Brain

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Turner syndrome is a genetic disorder that results from an abnormal or missing X chromosome in females and is typically associated with impairments in visuospatial, but not verbal, information processing. These visuospatial processing impairments may be exacerbated with increased task demands, such as those engaged during working memory (WM). While previous studies have examined spatial WM function in Turner syndrome, none have directly compared the neural correlates of spatial and verbal WM processes across the encoding, maintenance and retrieval phases. We employed both neurocognitive assessments and functional MRI (fMRI) to examine the neural circuitry underlying both verbal and visuospatial WM functions in individuals with Turner syndrome and normal controls. We furthermore examined the vulnerability of task-related fMRI activation to distracters presented during WM maintenance. Fifteen healthy female volunteers and eight individuals with Turner syndrome performed a delayed-response WM task during fMRI scanning. Neurocognitive tests revealed impaired performance across both verbal and spatial domains in Turner syndrome, with greater impairment on tasks with WM demands. Frontoparietal regions in controls showed significantly sustained levels of activation during visuospatial WM. This sustained activation was significantly reduced in the group with Turner syndrome. Domain-specific activation of temporal regions, in contrast, did not differ between the two groups. Sensory distraction during the WM maintenance phase did not differentially alter frontoparietal activation between the two groups. The results reveal impaired frontoparietal circuitry recruitment during visuospatial executive processing in Turner syndrome, suggesting a significant role for the X chromosome in the development of these pathways.

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Section: Discussionmentioning

confidence: 99%

Visuospatial executive function in Turner syndrome: functional MRI and neurocognitive findings

Hart¹,

Davenport²,

Hooper³

et al. 2006

Brain

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“…Complementing the findings of atypical cerebral functioning seen in fMRI studies, neuroanatomic studies of TS have consistently found decreased gray matter volume in the bilateral parietal lobes, parieto-occipital region, and subcortical gray matter (Murphy et al, 1993;Reiss et al, 1995;Brown et al, 2002;Good et al, 2003;Kesler et al, 2003;Molko et al, 2003), as well as increased volume of the superior temporal gyrus (STG) (Kesler et al, 2003), amygdala (Kesler et al, 2004a,b), and orbitofrontal cortex (Good et al, 2003). Recent volumetric MRI localized parietal lobe findings to the bilateral superior parietal lobule and postcentral gyrus (Brown et al, 2004).…”

Section: Introductionmentioning

confidence: 88%

“…The TS phenotype is characterized by short stature, gonadal dysgenesis, and a cognitive profile of relative strengths in verbal skills (Ross et al, 2000) with impairments in visuospatial and arithmetic processing (Waber, 1979;Pennington et al, 1985;Bender et al, 1993;Murphy et al, 1994;Rovet and Ireland, 1994), motor function (Ross et al, 1996), executive function (McCauley et al, 1987), and social cognition (Ross et al, 2000). Individual variation in the physical and cognitive characteristics in TS are believed to be attributable to a number of factors, including mosaic karyotypes consisting of partial X or Y chromosome fragments and possibly X-linked imprinting (Skuse et al, 1997;Kesler et al, 2003). These factors (Murphy et al, 1993) may result in altered neurodevelopment and impaired cognitive ability.…”

Section: Introductionmentioning

confidence: 99%

Selective Alterations of White Matter Associated with Visuospatial and Sensorimotor Dysfunction in Turner Syndrome

et al. 2006

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Turner syndrome (TS) is a neurogenetic disorder characterized by impaired spatial, numerical, and motor functioning but relatively spared verbal ability. Results from previous neuroimaging studies suggest that gray matter alterations in parietal and frontal regions may contribute to atypical visuospatial and executive functioning in TS. Recent findings in TS also indicate variations in the shape of parietal gyri and white matter microstructural anomalies of the temporal lobe. Diffusion tensor imaging and structural imaging methods were used to determine whether 10 females with TS and 10 age-and gender-matched control subjects exhibited differences in fractional anisotropy, white matter density, and local brain shape. Relative to controls, females with TS had lower fractional anisotropy (FA) values in the deep white matter of the left parietal-occipital region extending anteriorly along the superior longitudinal fasciculus into the deep white matter of the frontal lobe. In addition, decreased FA values were located bilaterally in the internal capsule extending into the globus pallidus and in the right prefrontal region. Voxel-based morphometry (VBM) analysis showed corresponding white matter density differences in the internal capsules and left centrum semiovale. Tensor-based morphometry analysis indicated that the FA and VBM results were not attributable to differences in the local shape of brain structures. Compared with controls, females with TS had increases in FA values and white matter density in language-related areas of the inferior parietal and temporal lobes. These complementary analyses provide evidence for alterations in white matter pathways that subserve affected and preserved cognitive functions in TS.

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“…The ROI variables included the volumes of the caudate nucleus hippocampus and amygdala (Kates et al, 1997), and the grey matter volume of the STG (Kesler et al, 2003). Raters were blind to subjects' diagnoses and achieved reliability of above 0.95 (intraclass correlation coefficient) for all ROIs.…”

Section: Mri Protocolmentioning

confidence: 99%

Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: A longitudinal study

Gothelf

Penniman

et al. 2007

Schizophrenia Research

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The 22q11.2 deletion syndrome (22q11.2DS) is associated with very high rates of schizophrenialike psychosis and cognitive deficits. Here we report the results of the first longitudinal study assessing brain development in individuals with 22q11.2DS. Twenty-nine children with 22q11.2DS and 29 age and gender matched controls were first assessed during childhood or early adolescence; Nineteen subjects with 22q11.2DS and 18 controls underwent follow-up during late adolescenceearly adulthood. The 22q11.2DS subjects showed greater longitudinal increase in cranial and cerebellar white matter, superior temporal gyrus, and caudate nucleus volumes. They also had a more robust decrease in amygdala volume. Verbal IQ (VIQ) scores of the 22q11.2DS group that developed psychotic disorders declined significantly between assessments. Decline in VIQ in 22q11.2DS was associated with more robust reduction of left cortical grey matter volume. No volumetric differences were detected between psychotic and nonpsychotic subjects with 22q11.2DS. Brain maturation associated with verbal cognitive development in 22q11.2DS varies from that observed in healthy controls. Further longitudinal studies are likely to elucidate brain developmental trajectories in 22q11.2DS and their association to psychotic disorders and cognitive deficits in this population.

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Effects of X-monosomy and X-linked imprinting on superior temporal gyrus morphology in Turner syndrome

Abstract: These findings suggest that X-monosomy and X-linked imprinting negatively affect STG development, possibly by disrupting neural pruning mechanisms.

Cited by 91 publications

References 79 publications

Visuospatial executive function in Turner syndrome: functional MRI and neurocognitive findings

Visuospatial executive function in Turner syndrome: functional MRI and neurocognitive findings

Selective Alterations of White Matter Associated with Visuospatial and Sensorimotor Dysfunction in Turner Syndrome

Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: A longitudinal study

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