Article Title: Clinical research: Extra X impairs awareness of others’ minds
Author: Kate Yandell
Date of Publication: June 13, 2014
“Girls and boys born with an extra X chromosome both tend to have difficulties understanding the minds of others, but for different reasons than children with autism do, according to a study published 22 March in Genes, Brain and Behavior” (Sophie van Rijn et al).
Article Title: Feminized behavior and brain gene expression in a novel mouse model of Klinefelter Syndrome
Authors: T.C. Ngun , N.M. Ghahramani, M.M. Creek, S.M. Williams-Burris, H. Barseghyan, Y. Itoh, F.J. Sánchez, R. McClusky, J.S. Sinsheimer, A.P. Arnold, E. Vilain
Date of Publication: June 13, 2014
“In some Klinefelter males, certain traits may be feminized or shifted from the male-typical pattern towards a more female-typical one…In sum, our results demonstrated that investigating behavioral and molecular feminization in XXY males can provide crucial information about the pathophysiology of KS and may aid our understanding of sex differences in brain and behavior.”
Article Title: A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis
Authors: Elyssia Bourke, Pamela Snow, Amy Herlihy, David Amor and Sylvia Metcalfe
Date of Publication: May 22, 2013
“The conclusions from this study were that parents’ experiences of having a child with KS and receiving a diagnosis were complex and multifaceted. This experience was shaped by the timing of when the diagnosis was received, who provided the diagnosis, what information was provided from health-care professionals and that which parents may have encountered on the internet. The long-term experiences for parents were also impacted by the level of support they received. These findings have implications for the process by which KS is recognized by the health-care community and supports available for families.”
The National Center for Learning Disabilities has published an ebook called “Executive Function 101.” This e-book is designed to explain executive functions in a clear, understandable way and to help parents pinpoint the struggles their child might experience. It’s organized into three broad categories where executive skills come into play: learning; behavior and emotions; and social situations and relationships. Each section includes tips for providing support and practice in specific skill areas.
Article Title: The Sexual Politics of Autism
Author: Virginia Hughes
Date of Publication: July 14, 2014
“Imagine you walked down the street and asked random people what autism is. What would they say? My guess: They’d talk about social skills, and the rising prevalence, and probably the vaccine nonsense. And they’d almost certainly mention that it happens to boys.
The idea that autism is a mostly male disorder is pervasive in the news, pop culture, and scientific circles. And it’s not just an academic curiosity. Last year a popular fertility clinic in Sydney, Australia, reported that about five percent of couples went through in vitro fertilization just so they could select a female embryo and thus lower the kid’s risk of developing autism.
The sex skew in autism is real: A diagnosis of autism is almost five times more common in 8-year-old boys than in 8-year-old girls, according to the latest statistics from the CDC.”
Article Title: What are the treatments for symptoms in Klinefelter syndrome (KS)?
Author: NIH
Date of Publication: December 1, 2016
“It’s important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated.
The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. It is especially helpful to begin treatment by early puberty. Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. However, treatment can bring benefits at any age.
The type of treatment needed depends on the type of symptoms being treated.”
Article Title: Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated
Author: Eberhard Nieschlag
Date of Publication: May 2013
“The diagnosis of KS would be less frequently missed if doctors were more aware of, and attentive to, its key manifestations, particularly the small, firm testes, erectile dysfunction, and the comorbidities mentioned above. If the diagnosis were made more often, patients would more often be able to receive early treatment, which would improve their quality of life.”
Article Title: Latest Testosterone Study Finds No Heart Attack Risk
Author: Nancy A. Melville
Date of Publication: July 3, 2014
“In the latest addition to the ongoing debate over the safety of testosterone treatment, researchers report no significant increased heart attack risk in older men treated with an intramuscular form of the therapy.
The study, published online this week in the Annals of Pharmacotherapy, compared 6,355 Medicare beneficiaries treated with testosterone with 19,065 who were not, between January 1997 and December 2005, and showed no increased risk of myocardial infarction (MI) in the treatment group (hazard ratio [HR], 0.84; 95% confidence interval [CI], 0.69 – 1.02).”
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Article Title: The structural brain correlates of cognitive deficits in adults with Klinefelter’s syndrome
Authors: E. Itti, I.T. Gaw Gonzalo, A. Pawlikowska-Haddal, K.B. Boone, A. Mlikotic, L. Itti, F.S. Mishkin, R.S. Swerdloff
Date of Publication: January 10, 2006
“This study hypothesizes that supernumerary X-chromosome and/or congenital hypogonadism provoke structural alterations in the subcortical pathways involved in language processing, thus providing a neurobiological substrate for cognitive deficits in KS.”
Article Title: Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile
Authors: A. Skakkebæk, C.H. Gravholt, P.M. Rasmussen, A. Bojesen, J.S. Jensen, J. Fedder, P. Laurberg, J.M. Hertz, J.R. Ostergaard, A.D. Pedersen, M. Wallentin
Date of Publication: October 29, 2013
“Brain imaging in Klinefelter syndrome (47, XXY) (KS), a genetic disorder characterized by the presence of an extra X chromosome, may contribute to understanding the relationship between gene expression, brain structure, and subsequent cognitive disabilities and psychiatric disorders. We conducted the largest to date voxel-based morphometry study of 65 KS subjects and 65 controls matched for age and education and correlated these data to neuropsychological test scores. The results show that although gene dosage effect of having an extra X-chromosome may lead to large scale alterations of brain morphometry and extended cognitive disabilities. No simple correspondence links these measures.”
