Think, that: Turner Syndrome Case Study
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Most typical clinical characteristics of this syndrome are include primary amenorrhea, hypogonadism, short stature, digital anomalies, low hair line at the back of the neck. A large number of affected individuals have a 45,X monosomy, nevertheless other structural abnormalities of X chromosome or 45,X with cell line mosaicism can also fulfill the criteria. In addition we discussed some possible reasons for genotype and phenotype aspect of this disorders. Therefore, prenatal and newborn screening of Turnerchr chr '39' 39chr '39' s syndrome for early detection and hormone therapy should be suggested. For parents with affected child peripheral blood karyotyping is recommended. Turner Syndrome Case Study.Turner Syndrome Case Study Video
Data Availability Statement These data should not be shared publicly because they include human subjects data Turner Syndrome Case Study a low incidence population. In the Data Management Plan submitted with the proposal for this work, the investigators specified that the data underlying the results presented in the study would be available to other researchers upon request.
Sashank Varma, a Co-Investigator on the larger project from which these data are drawn, agreed to be the point person for these data. Researchers may obtain the data by contacting him at moc. Go to: Abstract Individuals with Mathematics Learning Disabilities have persistent mathematics underperformance but vary with respect to their cognitive profiles. The present study examined mathematics ability and achievement, and associated mathematics-specific numerical skills and domain-general cognitive abilities, in young children with Turner syndrome compared to their matched peers.
Associated Data
We utilized two independent peer groups so that group comparisons would account for verbal skills, a hypothesized strength of girls with Turner syndrome, and nonsymbolic magnitude comparison skills, a hypothesized difference of girls with Turner syndrome. This individual matching approach afforded characterization of mathematics profiles of girls with Turner syndrome and girls without Turner syndrome that share potential key features of the Turner syndrome phenotype. Results indicated differences in mathematics ability and nonsymbolic magnitude comparison Turner Syndrome Case Study between girls with Turner syndrome and peers with similar levels of verbal skill.
Mathematics ability and mathematics achievement scores of girls with Turner syndrome did not differ significantly from their peers with similar levels of accuracy on Turner Syndrome Case Study nonsymbolic magnitude comparison task. Cognitive correlates of mathematics outcomes showed disparate patterns across groups.
These quantitative and qualitative differences across profiles enhance our understanding of variation in mathematics ability in early childhood and inform how mathematics skills develop in young children with or without Turner syndrome. Go to: Introduction Mathematics learning disabilities MLDs are heterogeneous, but they are similar to each other in terms of their persistence throughout life and the presumed biological nature of their diverse underpinnings [ 1 ].
MLDs and Stusy mathematics learning difficulties are collectively associated with individual differences across a wide array of skills, including those related to domain-specific e. Czse, profiles of cognitive strengths and differences of individuals with MLD vary widely. This variation poses challenges to determining appropriate instructional supports and interventions.
Research in mathematics cognition has long posited that meaningful subgroups of MLD can be delineated based on cognitive profiles [ 2 — 5 ], and that profiles across individuals with different degrees of severity in mathematics underachievement differ qualitatively [ 6 ]. A better Housekeeping Report Hotel of these subgroup differences may inform approaches to individualize instruction or support alternative strategies for different learners.
Unfortunately, the field is lacking well-established universal subgroup classifications of MLD, which leads to inadvertently Synxrome across subgroups in research samples and—potentially—in practice.
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These collapsed data in turn lead to group-level findings that may mask important subgroup differences [ 6 ]. In this study, we draw from findings that some of the liability for risk of MLD derives from biological factors [ Stydy8 ], and we consider a specific condition that confers biological risk for MLD: Turner syndrome TS. TS is a sporadic monosomy disorder that results from either complete or partial loss of one of two X chromosomes typically present in girls and women [ 9 ]. We build Turner Syndrome Case Study prior Studj on mathematics underperformance in individuals with TS to explore the relation between select features of the TS cognitive phenotype, including numerical processing skills and low mathematics achievement in children with or without TS during the early school years.
We adopt this approach as a means to potentially identify differences in MLD profiles across young children with or without TS. Prior studies of TS have consistently shown that girls and women with TS are more likely to meet criteria for Just click for source compared to persons from the general population [ 1011 ]. Mathematics differences observed in girls with TS cannot be attributed to low intellectual ability, because general intellectual functioning is typically not affected by TS [ 14 ]. Moreover, girls and women with Turner Syndrome Case Study tend to outperform their peers on verbal abilities such as vocabulary and reading skills [ 1516 ]; Stdy within group, Verbal IQ scores among girls with TS tend to outpace their own Performance IQ-related skills see [ 14 ] for review.]
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