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Executive function in XXY: Comparison of performance-based measures and rating scales

Article Title: Executive function in XXY: Comparison of performance-based measures and rating scales

Authors: Janusz, Harrison, Boada, Cordeiro, Howell, Tartaglia, and Boada

Date of Publication: May 11, 2020

“Few studies have systematically assessed executive functioning (EF) skills in boys with XXY, and these are limited by small samples and restricted EF assessment. This study used a broader battery of performance-based measures as well as parent-rating scales of EF in 77 boys and adolescents with XXY (mean age = 12.5 years), recruited from a clinical trial and an outpatient clinic. Exploratory factor analyses were used to create EF domains from performance-based measures, and similar domains were measured using the Behavior Rating Inventory of Executive Function and Conners Parent-Rating Scales. The boys with XXY showed a distinct EF profile, with the greatest deficit in attention and more moderate deficits in working memory, switching, and planning/problem solving.”

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2020-06-16T17:37:09-04:00Categories: 47,XXY (Klinefelter)|Tags: |

The epidemiology of sex chromosome abnormalities

Article Title: The epidemiology of sex chromosome abnormalities

Authors: Berglund, Stochholm, and Gravholt

Date of Publication: May 11, 2020

“Sex chromosome abnormalities (SCAs) are characterized by gain or loss of entire sex chromosomes or parts of sex chromosomes with the best-known syndromes being Turner syndrome, Klinefelter syndrome, 47,XXX syndrome, and 47,XYY syndrome. Since these syndromes were first described more than 60 years ago, several papers have reported on diseases and health related problems, neurocognitive deficits, and social challenges among affected persons. However, the generally increased comorbidity burden with specific comorbidity patterns within and across syndromes as well as early death of affected persons was not recognized until the last couple of decades, where population-based epidemiological studies were undertaken. Moreover, these epidemiological studies provided knowledge of an association between SCAs and a negatively reduced socioeconomic status in terms of education, income, retirement, cohabitation with a partner and parenthood. This review is on the aspects of epidemiology in Turner, Klinefelter, 47,XXX and 47,XYY syndrome.”

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2020-06-16T17:22:47-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Early neurodevelopmental and medical profile in children with sex chromosome trisomies

Article Title: Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention

Authors: Tartaglia, Howell, Davis, Kowal, Tanda, Brown, Boada, Alston, Crawford, Thompson, Van Rijn, Wilson, Janusz, and Ross

Date of Publication: May 13, 2020

“This study aims to better describe and compare the natural history of SCT conditions, identify predictors of positive and negative outcomes in SCT, evaluate developmental and autism screening measures commonly used in primary care practices for the SCT population, and build a rich data set linked to a bank of biological samples for future study. Results from this study and ongoing international research efforts will inform evidence-based care and improve health and neurodevelopmental outcomes.”

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2020-06-16T17:00:13-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Morbidity in Klinefelter syndrome and the effect of testosterone treatment

Article Title: Morbidity in Klinefelter syndrome and the effect of testosterone treatment

Authors: Chang, Skakkebæk, Davis, and Gravholt

Date of Publication: April 28, 2020

“…KS is associated with an array of health-related and socioeconomic challenges and it is becoming progressively clear that proper care for boys and men with KS reaches far beyond simply supplementing with testosterone. There are no widely implemented guidelines for KS care, and studies investigating crucial aspects of testosterone treatment in individuals with KS, including both beneficial and potentially adverse effects, have only begun to emerge during the last decades. For this descriptive review, we present an overview of literature describing health-related outcomes of testosterone treatment in KS and outline the clinical applications of testosterone treatment in KS. Collectively, beneficial effects of testosterone treatment on overall health in KS are described with few apparent adverse effects. However, larger randomized studies in adult and pediatric patients are warranted to elucidate key aspects of treatment. We stress the implementation of centralized multidisciplinary clinics and the need for a dedicated international guideline to ensure optimal care of boys and men with KS.”

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2020-06-09T14:38:29-04:00Categories: 47,XXY (Klinefelter)|Tags: |
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