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Study diagnoses 60 new health conditions in children

a little boy with his mum and dad

Sixty new health conditions have recently been diagnosed which is giving extra support to families with children living with developmental disorders.

When a condition is diagnosed parents can seek specific professional advice and have a better understanding of their disabled child.

Despite there being literally thousands of genetic disorders, living with one is quite rare. On average one in 17 people in the UK are affected by such conditions.

The findings come from the Deciphering Developmental Disorders study, which collected data from universities, the NHS and the Sanger Institute over the past 10 years in the UK and Ireland.

Out of 13,500 families with unexplained health conditions, 5,500 received a diagnosis after signing up to the study. 

A majority of the 60 disorders diagnosed showed spontaneous symptoms opposed to being traced back to birth.

Around a quarter of children who benefitted from the study had their treatment changed after their condition was diagnosed.

Prof Caroline Wright, from the University of Exeter, told the BBC: "We were able to find new genetic conditions, which means that not only people in the study benefit, but there are huge benefits to future generations.

"Getting a genetic diagnosis is hugely important to families. It allows them to speak to other families who might be affected by the same condition, and hopefully target much more personalised management and ultimately treatment."

[ The results of the study are published in the New England Journal of Medicine ]

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