Down Syndrome Current Perspectives Clinics in Developmental Medicine Series

Down syndrome remains the most common recognisable form of intellectual disability. The challenge for doctors today is how to capture the rapidly expanding body of scientific knowledge and devise models of care to meet the needs of individuals and their families.

Down syndrome; Clinical Perspectives provides doctors and other health professionals with the information they need to address the challenges that can present in the management of syndrome. Chapters written by internationally respected paediatricians with a special interest in Down syndrome, cover Down syndrome comorbidities, such hearing problems, gastrointestinal disorders, congenital heart diseases, as well as the underlying biology and new developments in molecular genetics. Contributions from the UK Down Syndrome Association and Down Syndrome Medical Interest Group define how doctors can work effectively with other professionals to improve health care provisions for this group. Each chapter is illustrated by informative case scenarios and answers to FAQs from parents and carers.

Contents List

1. Introduction
Richard W Newton

2. Advances in molecular biology
Arjan Bouman and Raoul Hennekam

3. Antenatal diagnosis
Shiela Puri and Joan Morris

4. Life for a person with DS
Stuart Mills, Gillian Bird, Lesley Black, Vanda Ridley, Sheila Heslam and Lou Marsden with Claire McCall and Fiona Straw

5. Hearing issues
Emma McNeill, Patrick Sheehan and Liz Marder

6. Vision and eye disorders
Pat Charleton and Maggie Woodhouse

7. Immune function, infection and autoimmunity
Peter Arkwright and Liz McDermott

8. Cardiovascular Disease
Robert Tulloh, Emma Pascall and Natali Chung

9. Respiratory diseases
Hazel Evans, Katy Pike, Marian McGowan and Sally Shott

10. Growth
Jennifer Dennis

11. Endocrine disorders
Malcolm Donaldson and Kath Leyland

12. Haematological disorders
Rebecca James and Shiela Puri

13. Gastrointestinal disorders
Patricia D Jackson, Peter Gillett and Sarah Almond

14. Renal and urinary tract abnormalities
Christine Hardie and Rajiv Puri

15. Musculoskeletal manifestations of Down syndrome
Janet Gardner-Medwin, Maureen Todd, Sally Tennant and Shiela Puri

16. Dermatological manifestations
Sheila M. Clark and Laura Savage

17. Impact for oral and dental Health
Liz Marder and June Nunn

18a. Neurological disorders
Richard W Newton

18b. Developmental, psychological and psychiatric function
Jeremy Turk

18c. Mental health and dementia
Tiina Annus, Liam Reese Wilson and Anthony Holland

19. Interventions and alternative therapies: medicine and myth
Richard W Newton

20. Perpsectives
Richard W Newton

Dr Richard W Newton FRCPCH FRCP is a consultant paediatric neurologist of over 30 years' experience. He was President of the European Association of Learning Disability Medicine from 1997 to 2001 and President of the British Paediatric Neurology Association from 2001 to 2005. His special research interests are febrile seizures, neuroimmunology, headache and the medical aspects of Down syndrome. He is the father of a young man with Down syndrome and a member of the UK Down syndrome Association.

Dr Liz Marder MRCP(UK) FRCPCH has been a Consultant Community Paediatrician and Lead Clinician for Children and Young People at Nottingham Children's Hospital since 1993. She runs the Nottingham Down Syndrome Children's Services. She is a founder member of the Down Syndrome Medical Interest Group (UK and Ireland) and medical advisor to the UK Down Syndrome Association. Dr Marder has been instrumental in developing resources on the medical aspects of Down syndrome including a special insert on Down syndrome for the UK Personal Child Health Record growth charts.

Dr Shiela C Puri MRCP FRCPCH(UK) is a Consultant Community Paediatrician at the Child Development Centre in Leeds and an Honorary Senior Lecturer at the University of Leeds, Department of Paediatrics and Child Health. She has been a consultant paediatrician since 1990. Dr Puri established a one-stop multidisciplinary clinic for children with Down syndrome in Leeds to offer a holistic model of care to the children. In 2014 she was appointed Vice-chair elect of the Down Syndrome Medical Interest Group.