Turner syndrome research paper

The authors suggested that impaired appraisal of facial affect and habituation to fearful stimuli may stem from impaired functional connectivity between these structures in the TS group [ 85 ].

J Adolesc Health Care.

Turner syndrome scholarly articles

Lyon MF. Because individuals with the maternal X chromosome outnumber those with the paternal X by approximately [ , ], further studies are required that oversample for participants with Xp Also, many studies tend to include only females with a monosomic 45,X genotype non-mosaic. The primary purpose of growth hormone is to regain height in girls with Turner syndrome. Brain development in Turner syndrome: A magnetic resonance imaging study. Specifically, females with TS tend to demonstrate significant deficits on tests of mental rotation, object assembly and face recognition but perform comparably to controls on visual sequential memory and block span tests [ 38 ] Deficits on visual-spatial tasks often include right-left disorientation and difficulty with design copying as well as an executive function component with poor planning and organization [ 43 — 48 ]. Carrel L, Willard HF. Investigation of cardiac status and bone mineral density in Turner syndrome. These studies will hopefully aid us in developing syndrome specific interventions that will improve functioning and quality of life in individuals with TS. Some cognitive and psychosocial TS phenotypes such as deficits in mathematical abilities 14 and impaired social interaction 13 persist throughout the adult life. The physical phenotype associated with TS includes short stature, ovarian failure, webbed neck, cardiac abnormalities, impaired glucose tolerance, thyroid disease and hearing loss [ 1 , 4 — 7 ]. Skuse and colleagues argue that social cognition performance in TS is not strongly correlated with visual-spatial ability and that nonverbal deficits cannot adequately explain the findings that individuals with TS tend to show greater impairment for fearful stimuli [ 24 , 77 , 78 ] A primary nonverbal deficit would seem to affect appraisal of all facial emotions similarly. Keywords: Turner syndrome, X-monosomy, genetics, cognitive-behavioral, psychosocial Turner syndrome TS is a complex phenotype associated with complete or partial monosomy of the X chromosome, usually the result of a sporadic chromosomal nondisjunction. However, many questions remain. Acta Paediatr Suppl.

TS is a result of the variation in the sex chromosomes. A follow-up study employing an expanded cognitive testing battery confirmed these findings [ 14 ].

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A Chromosomal Defect Causes this Condition Turner syndrome is caused by a defect of the second female sex chromosome. Gravholt CH.

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Audiological range in Turner's syndrome. Gravholt CH. With this work, we aim to facilitate the integration of emphasized psychosocial care in state-of-the-art treatment for girls and women with TS. Brain activation in frontal-parietal regions tends to be increased compared to controls during easier tasks but reduced during more difficult tasks [ 43 , 66 ]. This article includes a quick list of facts and tips about Turner syndrome-- from what it is to how it's treated. Physical abnormalities The most common i. Rao E, et al. In addition, girls with TS have frequently been found to have difficulty in encoding social cues and behaving appropriately in social situations It affects 1 in 2, to 1 in 5, live female births, or approximately 1.

Early diagnosis and treatment of comorbidities is known to enhance the medical state of adult patients with TS There also some concerns regarding increased risk of colon and lymphatic cancers [ 97 ]. Summary and Future Directions Significant progress has been made in describing the cognitive-behavioral, neurobiologic, endocrinologic, physical and genetic factors associated with Turner syndrome.

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During the early infancy, affected girls show no psychological developmental differences from their unaffected counterparts. Neuropsychological assessments can be vitally helpful in informing education and special education services as well as psychotherapy parameters.

Russell HF, et al. Kesler, Ph.

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It describes how a novel approach to research adaptations, universal design, was used to identify and incorporate adaptions into the research design, both through the choice of photo elicitation interviews as a research method and through adjustments made at each stage of the research process.

Continued studies of X-linked genes that escape inactivation and have Y chromosome homologues also will be essential in identifying candidate genes involved in the cognitive-behavioral and physical phenotypes of TS.

Turner syndrome research paper

Persistent cognitive deficits in adult women with Turner syndrome. Based on our understanding of TS thus far, such interventions should ideally include a combination of the following, based on individual strengths and weaknesses: 1 general coping and adaptive skills training as well as a specific focus on dealing with chronic medical problems such as cardiovascular disease, hearing impairment and infertility; 2 social skills training including self-monitoring, social perspective taking, facial affect and body language recognition and interpretation as well as group social skills therapy; 3 stress management training to help prevent and treat anxiety and mood disturbances; 4 emphasis on improving self-esteem and self-perception; and 5 internal and external strategies to compensate for cognitive weaknesses such as using self-talk to pay attention and remain on task, focusing on doing one task correctly, rather than doing several things at once and paraphrasing what others have said to ensure comprehension. TS manifests itself in a number of ways. Many other areas of cognitive function, particularly those associated with visual-spatial and visual-motor processing as well as attention, seem to persist despite ERT [ 35 ]. An fMRI study demonstrated enhanced right amygdala activation to fearful faces in individuals with TS compared to controls. Cytogenetic findings in a consecutive series of patients with Turner syndrome. Jacobs PA. TS is characterized by short stature and ovarian dysgenesis, together with a broad range of other phenotypic characteristics, including an increased risk for heart and renal defects 1 , 2. Girls with TS also demonstrate androgen deficiency [ ]. Experienced clinicians have discussed inclusion of psychological testing and routinely screening of girls with TS for developmental progress, but evidence-based results are rare Verver et al. Cognitive Phenotype Visual-Spatial Skills Individuals with TS typically demonstrate normal global intellectual functioning; however, nonverbal abilities are often significantly impaired [ 7 , 34 , 35 ]. Ellison JW, et al. New York: Oxford University Press;
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Turner Syndrome