How We Fail Children With Developmental Language Disorder

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

Recognition of Genital Differences Among Some 47XXY Infants

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

Exogenous Testosterone is not a requirement of 47XXY’s at Mini and Pre‑Puberty

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

Fertility Rates Among Non-Mosaic XXY; At Odds With Real Life Experience

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

What We Would Like Doctors To Know About XXY

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

New DNA ‘clock’ could help measure development in young children

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

Dyspraxia is more than just “clumsy child syndrome” – it can cause emotional distress and anxiety throughout life

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

Understanding Conversation – Children With an Extra X or Y Chromosome – Now Recruiting!

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!

Chromosome Variant Factsheet

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

Interview: David Cooke on 47XXY

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

The Rights Of Children in Bio-Medicine. Challenges Posed by Scientific Advances and Uncertainties

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

Anxiety and Depression in Klinefelter Syndrome: The Impact of Personality and Social Engagement

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