Developmental language disorder (DLD) is a neurodevelopmental condition that emerges in early childhood and frequently persists into adulthood. People with DLD have significant difficulty learning, understanding, and using spoken language. Under U.S. Public Law 101-476 (Individuals with Disabilities Education Act [IDEA], 2004; first issued in 1990 and reissued in 2004), children may be eligible for … Continue reading How We Fail Children With Developmental Language Disorder
Klinefelter syndrome (KS) is a sex chromosome variation caused by the presence of one or more supernumerary X chromosomes. Common clinical phenotypes of KS are comprised of tall stature with a feminine body type, gynecomastia, small testes and infertility. Cases of KS with genital differences as the main evaluation in childhood are rarely disclosed. We … Continue reading Recognition of Genital Differences Among Some 47XXY Infants
The hypothalamus–pituitary–gonadal axis (HPG) during mini-puberty in boys with KS has been evaluated by several investigative groups and “all” possible results recorded: above normal, below normal or indistinguishable from normal (Aksglaede, Petersen, Main, Skakkebæk, & Juul, 2007; Lahlou, Fennoy, Ross, Bouvatier, & Roger, 2011; Ross et al., 2005). None of these studies has enough boys … Continue reading Exogenous Testosterone is not a requirement of 47XXY’s at Mini and Pre‑Puberty
Klinefelter syndrome (KS) is the one of the most frequent chromosomal disorder affecting 1/500–600 male newborns in the general population. The vast majority of the cases shows the 47,XXY karyotype, although mosaicism (46,XY/47,XXY) or higher-grade X aneuploidies can be rarely detected. Despite its high incidence, KS frequently remains undiagnosed and it is suspected later in … Continue reading Fertility Rates Among Non-Mosaic XXY; At Odds With Real Life Experience
If you are a Doctor And consider yourself an expert in all things XXY, then you will never learn anything about us. Adult XXY's often have adversarial relationships with physicians. If you have a patient like that, don't take it personally, it's probably because the medical community has treated us so badly for the last … Continue reading What We Would Like Doctors To Know About XXY
Scientists have developed a molecular "clock" that could reshape how paediatricians measure and monitor childhood growth and potentially allow for an earlier diagnosis of life-altering development disorders. The research, published this week in PNAS, (Full Study) describes how the addition of chemical tags to DNA over time can potentially be used to screen for developmental differences … Continue reading New DNA ‘clock’ could help measure development in young children
Ring all the bells, that still can ring, this could well be a story typical of an XXY experience, albeit one without an additional diagnosis. Of note is how the article is extremely well researched with an abundance of additional resources we are sure you will find useful DCD is a lifelong disorder that cannot … Continue reading Dyspraxia is more than just “clumsy child syndrome” – it can cause emotional distress and anxiety throughout life
The Department of Experimental Psychology (EP) at the University of Oxford would like to invite your child to be part of this study investigating how we understand conversation. The project is looking at how children understand conversations. We know that vocabulary and grammar are important in understanding conversation, but social communication is likely to depend on more … Continue reading Understanding Conversation – Children With an Extra X or Y Chromosome – Now Recruiting!
At the XXY Project we are anti anything that depicts Chromosome Variations of any description as being abnormal because what they're describing is not the natural variation these differences are but rather something that's broken and something that needs to be fixed. Medical Science, Clinicians and the like are steadfastly stuck on the notion that … Continue reading Chromosome Variant Factsheet
Had he been practising some forty years ago, pediatric endocrinologist David Cooke’s profile of patients who are 47XXY would have differed sharply from today’s view. Then, late-adolescent boys would have comprised most of Cooke’s patients. Now, with amniocentesis and prenatal karyotyping more routine, however, Cooke, as the pediatric endocrinologist with the Johns Hopkins Klinefelter Syndrome Center, … Continue reading Interview: David Cooke on 47XXY
At Beyond XXY we are in the process of winding up other interests so as to concentrate more on the Website and Blog, as part of that process we've saved a couple of posts which we believe are worthwhile hanging on to, such as this TEDx talk by Cecelia McDonald where she talks about the … Continue reading Intersex People and the Physics of Judgment
Photo by JOSHUA COLEMAN The Committee on Bioethics of the Council of Europe commissioned this study to identify potential areas of heightened concern for the rights of children that may be unfavourably affected by scientific advances and uncertainties in biomedicine. This report is the result of that study. It provides substantive illustrations of the diversity of … Continue reading The Rights Of Children in Bio-Medicine. Challenges Posed by Scientific Advances and Uncertainties
Yet another excellent research article from the Danes who above all others really understand our biological makeup.KS patients had a significantly higher level of testosterone than controls, reflecting the fact that the majority of these KS participants were receiving high doses of exogenous testosterone. Similarly, testosterone levels among KS patients receiving testosterone therapy were significantly … Continue reading Anxiety and Depression in Klinefelter Syndrome: The Impact of Personality and Social Engagement
It is impossible to avoid genes nowadays. The media are crammed with news about genetic engineering, genetic modification, or gene therapy. Yet very rarely does anyone try to explain what these genes are and what they do, or try to reconcile the concept of the gene with those other two bêtes noirs of the jargon-averse: … Continue reading So, What is an X chromosome?
With a head on their shoulders several light years from a child of a similar age inclusive of XX or XY, how they got there becomes easy to comprehend when you consider what they have been through which is not something most kids of Ori's age would ever experience. Thankfully Ori's Mum was totally on … Continue reading Meet Ori, Ori is XX/XY Mosaic