Patterns of Spatial Functioning in Turner's Syndrome

Temple, Christine M.; Carney, Rebecca

doi:10.1016/s0010-9452(13)80109-8

Cited by 72 publications

(40 citation statements)

References 27 publications

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“…Though we tested only monosomic 45, X patients, many TS patients have a "mosaic" karyotype, with only a variable percentage of cells showing the partial or complete deletion of an X chromosome. Most studies suggest that such mosaic subtypes are generally less impaired than monosomic 45, X patients (Temple & Carney, 1995). However, this is challenged by a recent study in which cognitive impairments were not influenced by the mosaic characteristics (Ross et al, 2002).…”

Section: Discussionmentioning

confidence: 98%

A cognitive characterization of dyscalculia in Turner syndrome

et al. 2004

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Current theories of number processing postulate that the human abilities for arithmetic are based on cerebral circuits that are partially laid down under genetic control and later modified by schooling and education. This view predicts the existence of genetic diseases that interfere specifically with components of the number system. Here, we investigate whether Turner syndrome (TS) corresponds to this definition. TS is a genetic disorder which affects one woman in 2500 and is characterized by partial or complete absence of one X chromosome. In addition to well-characterized physical and hormonal dysfunction, TS patients exhibit cognitive deficits including dyscalculia. We tested 12 women with Turner syndrome and 13 control subjects on a cognitive battery including arithmetical tests (addition, subtraction, multiplication, division) as well as tests of the understanding of numerosity and quantity (cognitive estimation, estimation, comparison, bisection, subitizing/counting). Impairments were observed in cognitive estimation, subitizing, and calculation. We examine whether these deficits can be attributed to a single source, and discuss the possible implications of hormonal and genetic factors in the neuropsychological profile of TS patients.

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Section: Discussionmentioning

confidence: 98%

A cognitive characterization of dyscalculia in Turner syndrome

et al. 2004

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“…Turner syndrome is associated with short stature, due largely to haploinsufficiency for the SHOX gene, expressed from PAR1 (49), plus other variable physical feature. Females with Turner syndrome nearly always have normal verbal intelligence, although about 80% are deficient in terms of visuospatial abilities, such as the ability to complete a jigsaw puzzle (50). Arithmetical abilities are often seriously impaired too (51).…”

Section: Human X Monosomymentioning

confidence: 99%

Sexual dimorphism in cognition and behaviour: the role of X-linked genes

Skuse¹

2006

eur j endocrinol

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Chimpanzees and humans last shared a common ancestor between 5 and 7 million years ago; 99% of the two species' DNA is identical. Yet, since the paths of primate evolution diverged, there have been remarkable developments in the behavioural and cognitive attainments of our species, which ultimately reflect subtle differences in gene structure and function. These modifications have occurred despite evolutionary constraints upon the diversity of genetic influences, on the development and function of neural tissue. Significant species differences can be observed both at the levels of function (gene expression) and structure (amino acid sequence). Protein evolution is driving an accelerating increase in brain complexity and size. Playing centre stage, in terms of the proportion of genes involved in brain development and cognitive function, is the X chromosome. Recently, it has become clear that a long-standing theory, implicating X-linked genes in a sexually antagonistic evolutionary role, is probably correct. Genes on the sex chromosomes can directly influence sexual dimorphism in cognition and behaviour, independent of the action of sex steroids. Mechanisms by which sexchromosomal effects, due to X-linked genes, influence neural development or function are reviewed. These include the biased expression of genes subject to X-inactivation, haploinsufficiency (in males) for non-inactivated genes with no Y homology, sex-specific brain functions and genomic imprinting of Xlinked loci. Evidence supporting each of these mechanisms is available from both human and animal models. Recently, the first candidate genes have been discovered.European Journal of Endocrinology 155 S99-S106

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“…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). Within executive function, verbal inhibition has been described as impaired (Temple, Carney & Mullarkey, 1996;Temple & Shephard, 2012).…”

Section: Girls With Ts Have Normal Intelligence With An Advantage On mentioning

confidence: 99%

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

Zougkou

Temple

2016

Cognitive Neuropsychology

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The arithmetical skills in two children with Turner's syndrome [TS], each the focus of a case study, were analyzed in whole numbers and other number scales that have not been systematically explored previously, fractions, decimals, percentages and negative numbers.The intention was to identify the fractionation of arithmetical skills. The two girls with TS showed dissociations of arithmetical skill in the calculation system of whole numbers that support its modular organization. Fractionation of skills was observed in some components of the other number scales suggesting an analogous organization within these scales. The operational specificity of impairment within number scales but not others argued against a unitary arithmetical system but rather for autonomous operational scales within distinct number scales. A general model of arithmetic is proposed.

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Patterns of Spatial Functioning in Turner's Syndrome

Cited by 72 publications

References 27 publications

A cognitive characterization of dyscalculia in Turner syndrome

A cognitive characterization of dyscalculia in Turner syndrome

Sexual dimorphism in cognition and behaviour: the role of X-linked genes

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

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