Down's Syndrome: Diagnosis

In 2023, NHS England produced a guide for frontline staff to support people with learning disabilities which asks staff to be aware of diagnostic overshadowing. NHS England does not hold data on the extent of diagnostic overshadowing for people with Down syndrome, nor is the data held centrally. This guide is available at the following link:

https://www.england.nhs.uk/long-read/clinical-guide-for-front-line-staff-to-support-the-management-of-patients-with-a-learning-disability-and-autistic-people-relevant-to-all-clinical-specialties/

Through the implementation of the Down Syndrome Act 2022, the Government is striving to improve life outcomes for people with Down syndrome, raise awareness and understanding of their needs, and break down barriers to opportunity that they, and other disabled people, face.

Under the Down Syndrome Act, the Secretary of State for Health and Social Care is required to give guidance to relevant authorities in health, social care, education and housing services on what they should be doing to support the needs of people with Down syndrome. The draft guidance, which was published for public consultation on 5 November 2025, acknowledges that many people with Down syndrome may experience diagnostic overshadowing and recognises its impact on the care and treatment that people receive.

The Department welcomes specific suggestions of other topics for inclusion or additional detail on those already covered through the consultation. Once the consultation has closed, the Government will consider all consultation responses to inform the final guidance to be published.