Congenital disorders

Intellectual disabilities (ID) and their impact on long-term mental health is a significantly under-funded area of research. Affected families often have complex needs, which are not always met. In 2013, there were 900,000 adults and 170,000 children with ID in England.

Although ID can be caused by events such as extreme prematurity, birth injury or brain infections, at least 85% of cases have a genetic cause. Some of this genetic risk is inherited, but not all. Errors in the genetic code can occur as chance events during the formation of the egg or sperm. Many of these ‘newly occurring’ errors are benign, but they can have serious consequences if they occur in key regions of the genome that are linked to the development of cognitive skills.

Previous research suggests that some of these ID-related genetic errors greatly increase the risk to mental health in later life, yet in over 90% of cases no such information is available. Because any single event is so rare, a national study of many thousands of affected individuals is needed to build a clearer picture. This will allow researchers to compare multiple examples of each genetic error.

We were persuaded by the need for new research in this area. Together with the MRC we provided a total of £2.6m (Medical Research Foundation: £900k) for Professor David Skuse (University College London) to lead a unique programme of research aimed at understanding how very rare genetic errors in children with ID can increase the risk of mental illness in later life. This work builds on the results of a successful pilot study, which we co-funded, confirming the feasibility of the research plans. Genetic screening by NHS resources will be harnessed nationwide, and families will contribute to the study online.

The results could lead to a step-change in the treatment and care of people with ID. Early identification of genetic risk could provide guidelines for precision medicine, leading to better targeted services and interventions for people with ID and their families.