Experts issue standards to help children with genetic condition

The document sets out minimum standards for the diagnosis and management of the condition.

The 22q11 charity Max Appeal and a team of medical experts produced the guidance.

The genetic condition occurs when part of a chromosome is deleted and covers a spectrum of disorders including DiGeorge syndrome.

Symptoms vary widely and the diagnosis is often delayed due to the disparate nature of the disabilities it can cause, which include congenital heart defects, learning difficulties and speech and language problems.

More than 70 per cent of the estimated 30,000 people in England and Wales who have the condition are children.

Dr Alex Habel, who helped create the document, said: “The number of affected individuals in the UK with 22q11 is growing, and with help to manage their disabilities many are becoming parents, adding to the pool of those in need. The document will be of huge benefit to all patients and families and those who provide care and support to them.”

Julie Wootton, chair of trustees at Max Appeal, said: “This landmark document will start to bring improvement to the care offered to people with this condition. There is now a benchmark for families, clinicians and other service providers to work to.”