A new study has identified 60 new developmental disorders in children, giving thousands of affected children a diagnosis. Over 13,500 families with unexplained disorders participated in the Deciphering Developmental Disorders study, conducted over 10 years in the UK and Ireland, which analysed the genetic code of children and their parents.
The study, a collaboration between the NHS, universities, and the Sanger Institute, found that most of the errors causing the disorders had occurred spontaneously at conception rather than being inherited. The diagnoses have provided better care and the ability to make informed decisions for the families, with around 25% of the children receiving a change in their treatment.
The study has identified a range of developmental disorders, including Turnpenny-Fry syndrome, which causes learning difficulties, growth impairment, and leads to a large forehead and sparse hair. The diagnosis has given families the ability to connect with others facing the same challenges, forming global online support groups. Jessica Fisher, the mother of a child diagnosed with Turnpenny-Fry syndrome, said the diagnosis was “devastating,” but the study has brought families together.
Prof Caroline Wright, from the University of Exeter, has said that the new genetic conditions discovered in the study have implications for future generations. A diagnosis is hugely important to families, allowing them to speak to other families affected by the same condition and ultimately leading to personalized management and treatment. The results of the study were published in the New England Journal of Medicine.