2020 - Page 3 of 4 - The Association for X and Y Chromosome Variations

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.”

Rick Frith2020-06-16T17:00:13-04:00Categories: 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.”

Rick Frith2020-06-09T14:38:29-04:00Categories: 47,XXY (Klinefelter)|Tags: Testosterone treatment|

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Article Title: Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Authors: Green, Flash, and Reiss

Date of Publication: January 2019

“The study of individuals with sex chromosome aneuploidies provides a promising framework for studying sexual dimorphism in neurodevelopmental and psychiatric disorders. Here we will review and contrast four syndromes caused by variation in the number of sex chromosomes: Turner syndrome, Klinefelter syndrome, XYY syndrome, and XXX syndrome. Overall we describe an increased rate of attention deficit hyperactivity disorder and autism spectrum disorder, along with the increased rates of major depressive disorder and anxiety disorders in one or more of these conditions. In addition to contributing unique insights about sexual dimorphism in neuropsychiatric disorders, awareness of the increased risk of neurodevelopmental and psychiatric disorders in sex chromosome aneuploidies can inform appropriate management of these common genetic disorders.”

Rick Frith2020-05-25T15:21:05-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, Other Variations|Tags: Neuropsychiatry|

Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome

Article Title: Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome

Authors: Fjermestad, Huster, Thunberg, Stokke, Gravholt, and Solbakk

Date of Publication: April 29, 2020

“Altogether, men with KS display problems in neuropsychological functions and mental health but do not appear different from controls on most sleep parameters. Our findings indicate that relations between neuropsychological functions, sleep, and mental health differ between men with KS and controls.”

Rick Frith2020-05-25T14:56:13-04:00Categories: 47,XXY (Klinefelter)|Tags: Neuropsychology|

The Association of Motor Skills & Adaptive Functioning in XXY/Klinefelter & XXYY Syndromes

Article Title: The Association of Motor Skills and Adaptive Functioning in XXY/Klinefelter and XXYY Syndromes

Authors: Tartaglia, Davis, Martin, Cordeiro, and Richardson

Date of Publication: December 28, 2018

“Both conditions have been previously associated with motor delays and motor skills deficits. We aimed to describe and compare motor skills in males with XXY and XXYY syndromes, and to analyze associations with age, cognitive abilities, and adaptive functioning.”

Rick Frith2020-04-21T15:12:53-04:00Categories: 47,XXY (Klinefelter), 48,XXYY|

Neural systems for social cognition: gray matter volume abnormalities (Sophie van Rijn et al)

Article Title: Neural systems for social cognition: gray matter volume abnormalities in boys at high genetic risk of autism symptoms, and a comparison with idiopathic autism spectrum disorder

Authors: Van Rijn, Swaab, Goddard, and Rombouts

Date of Publication: 2015

Rick Frith2020-04-02T14:25:54-04:00Categories: 47,XXY (Klinefelter)|Tags: Autism Spectrum Disorder|

Androgen treatment effects on hippocampus structure in boys with Klinefelter Syndrome

Article Title: Androgen treatment effects on hippocampus structure in boys with Klinefelter Syndrome

Authors: Foland-Ross, Ross, and Reiss

Date of Publication: September 28, 2018

Rick Frith2020-03-20T15:12:01-04:00Categories: 47,XXY (Klinefelter)|

Fertility in Adolescents With Klinefelter Syndrome: A Survey of Current Clinical Practice

Article Title: Fertility in Adolescents With Klinefelter Syndrome: A Survey of Current Clinical Practice

Authors: Zganjar, Nangia, Sokol, Ryabets, and Samplaski

Date of Publication: October 14, 2019

Rick Frith2020-03-16T12:50:39-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Fertility Considerations in Adolescent Klinefelter Syndrome: Current Practice Patterns

Article Title: Fertility Considerations in Adolescent Klinefelter Syndrome: Current Practice Patterns

Authors: Bhasin and Oates

Date of Publication: December 26, 2019

Rick Frith2020-03-16T12:44:22-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature (Psychosocial and Quality of Life Impact)

Article Title: The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature

Authors: Hanna, Cheetham, Fearon, Herbrand, Hudson, McEleny, Quinton, Stevenson, and Wilkes

Date of Publication: November 26, 2019

“This review examines the existing psychosocial evidence around the impact of KS, exploring what we know about KS and its relevance for health care for this group.”

Rick Frith2020-02-18T11:01:00-05:00Categories: 47,XXY (Klinefelter)|Tags: Quality of life|