Down's syndrome: clinical review

Content developed by MIMS Learning http://www.mimslearning.co.uk/

INTRODUCTION

Down's syndrome is one of the most common genetic causes of developmental disability, and in the UK, around 60,000 people are living with Down's syndrome.

Improvements in managing associated medical problems, especially congenital cardiac abnormalities, mean more babies survive and adults are living longer. Life expectancy at birth has increased fivefold in the past 50 years and is now 60 years in the UK.

As a result, general practice nurses are more likely to have patients with Down’s syndrome in their clinics, and an understanding of the condition is essential. This module, developed in association with the Nottingham Down syndrome children’s service, outlines the aetiology of Down’s syndrome, the screening process and the role of the GPN in the management of comorbidities both in childhood and adulthood. Key learning points for healthcare professionals include when to conduct assessments for cardiac, thyroid and gastrointestinal disease.

LEARNING OBJECTIVES

On completion of this module, you should be better able to:

• Understand the genetic cause of Down’s syndrome
• Explain the screening process to pregnant women
• Understand the management of comorbidities in both childhood and adulthood

AUTHORS

Dr Esther Corker, consultant paediatrician, Sherwood Forest Hospital Foundation Trust, Dr Claire McCall, associate specialist, Nottingham University Hospitals NHS Trust and Dr Liz Marder, consultant paediatrician, Nottingham University Hospitals NHS Trust.