Down Syndrome – Chapter 1: Introduction & Chapter 2: Advances in Molecular Genetics (free ebook)

This chapter is part of Down Syndrome

Current Perspectives

Product Type: PDF (Sub-Section of Book)

Series: Clinics in Developmental Medicine

Edition: 1st

Publication date: April 2015

Page count: 31

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Chapter 1 – Introduction & Chapter 2 – Advances in Molecular Genetics by Arjan Bouman and Raoul Hennekam from Down Syndrome: Current Perspectives

About the Complete Book

Down Syndrome: Current Perspectives provides doctors and other health professionals with the information they need to address the challenges that can present in the management of the syndrome. Chapters written by internationally-respected paediatricians with a special interest in Down syndrome cover Down syndrome comorbidities, such as 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 with informative case scenarios and answers to FAQs from parents and carers.


General practitioners, community paediatricians, paediatric neurologists, neurodevelopmental paediatricians, speech and language therapists, other health and educational professionals, teachers.

Full Book Review

Read the full book review by Arnab Seal published in Developmental Medicine & Child Neurology.

Why not?

Clinics in Developmental Medicine

Arjan Bouman and Raoul Hennekam (Authors) Richard W Newton (Editor)

Richard Newton

Richard W Newton 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.

Shiela Puri (Editor)

Shiela Puri 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.

Liz Marder (Editor)

Dr Liz Marder

Liz Marder 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.

  • FOREWORD xiii
  • PROLOGUE xvii
  • 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

'I believe this book will become the main reference text for clinicians working with people with Down syndrome. I will use the book in my work with medical students and young doctors and I will recommend it to the parents of many of my patients.' Ulrika Wester Oxelgren, Acta Paediatrica, 2016.

‘The personal stories from parents, often followed by case specific interventions, will speak to families who share similar struggles. These poignant anecdotes encourage empathy while furthering the understanding of Down syndrome. From a medical standpoint, the organization of information by systems makes this text a convenient and comprehensive resource. It contains the level of detail necessary to create patient specific differential diagnoses, and simultaneously arms providers with the information needed to answer both practical parent and complicated medical questions.’ Jaime-Dawn E. Twanow, Journal of Child Neurology, 2016

‘This new reference book covers many related topics from the molecular genetics and hypotheses behind the cause of the Down presentation, through diagnosis, to the various medical conditions that are commonly (and less commonly) seen alongside Down Syndrome through the various stages of life. By raising awareness of the various health complaints that are more common in, but not unique to Down Syndrome, this book assists health professionals in recognising and flagging up comorbidities that should be dealt with by the appropriate specialist team.’ Christina Calderon, Association of Paediatric Chartered Physiotherapists Journal, 2015

‘Whether you are a general paediatrician, a community paediatrician, a ‘super-sub’-specialist in a tertiary unit, or an allied health professional it is likely you will be called upon to deliver care for a child with Down syndrome. When doing so this textbook is a helpful one to keep at hand. It is a comprehensive collection of up-to-date practice written by contributors with expertise in the field. In addition to being a helpful guide for professionals, it also serves as a reference book for parents and support organizations.’ Arnab Seal, Developmental Medicine & Child Neurology, 2015

'I found this book to be of exceptionally high quality bringing together the current guidance, perspectives and research on a wide range of health issues affecting people with Down’s syndrome in an informative and in-depth manner.' Salim J Razak, Down Syndrome Association Journal, 2015

'I found reading this volume very informative. It reflects authority and credibility and is indeed a comprehensive guide to the delivery of health care for children and young people with Down syndrome.' Eugen Boltshauser, Neuropediatrics, 2015

'For those wanting to have an authoritative source to support their task of overseeing the health management of a family member with Down syndrome, this is the book.' Rhonda Faragher, Journal of the Down Syndrome Association of Australia, 2015