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Genetic Conditions Of Interest
At Cardiff Babylab our research focuses on children with neurodevelopmental disorders to understand their development in their first few years of life and learn how to better support them.
Down Syndrome
Down syndrome is a genetic disorder, present at birth, where there is a triplication of chromosome 21. There are three types of Down syndrome: Translocation Down syndrome, Mosaic Down syndrome, and the most common being Trisomy 21. It is characterised by mild to moderate intellectual disability, stunted growth and characteristic facial features. Click the link for more information about Down syndrome from the UK Down syndrome Association.
Fragile X Syndrome
Fragile X syndrome is a genetic disorder typically diagnosed in early life. It is caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1. It can affect a child's learning, behaviour, appearance, and health. Click the link for more information about Fragile X syndrome from the UK Fragile X Society.
Williams Syndrome
Williams syndrome is a rare genetic disorder present at birth where there is a deletion of genes on chromosome 7. It is characterised by medical problems such as cardiovascular disease, developmental delays, and learning challenges. Click the link for more information about Williams syndrome from the UK Williams Syndrome Foundation.