Description

🟢 "Great genetic progress", "exciting early neurocognitive interventions", but "grave deficiency in current testing and care models" around the world. Listen to an easy to understand 25 minute summary of the very latest research on the most common chromosomal differences in humans, authored by 10 of the world's leading researchers and clinicians. You'll hear how new science brings more questions than answers, but also exciting breakthroughs for early age support and improved quality of life including:

• Fast changing understanding of how supernumerary chromosomes result in multiple genome wide effects, debunking the traditional thinking that widespread increased health risks are primarily due to hormonal effects, opening novel perspectives for prevention of heightened lifelong health risks
• Breakthroughs in early age identification of Autism, ADHD & emotional regulation developmental trajectories specific to Extra X&Y chromosomal differences, with the first evidence-based interventions shown to improve quality of life both of young children and their parents
• Recognition of the importance advocacy organization priorities in research and clinical care, highlighting enormous burden on families facing ill equipped health, educational and social systems due to grave, persistent deficiencies in current genetic testing and care models around the world.

* Gravholt CH, Ferlin A, Gromoll J, Juul A, Raznahan A, van Rijn S, Rogol AD, Skakkebæk A, Tartaglia N, Swaab H. New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XXY. Endocr Connect. 2023 Jan 1:EC-22-0500. doi: 10.1530/EC-22-0500. Epub ahead of print. PMID: 36598290. Copyright 2023: the authors

Click here for link to full written article, including figure 1

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