Down Syndrome: Current Perspectives

R. W. Newton, S. Puri, L. Marder, eds. Down Syndrome: Current Perspectives. (Clinics in Developmental Medicine). London, UK: Mac Keith Press; 2015 (296 pages). ISBN: 978–1-909962–47–7. EUR 129.00

The cover of this volume is welcoming the reviewer (reader) with four photos, including two smiling girls and a diving teenager with “thumbs up to life”— this positive expression made me curious. In view of the prevalence (1:1,000 live births are affected by Down syndrome; in 2011, 37,000 persons with Down syndrome lived in England and Wales), this book appears timely. The editors have gathered 47 expert contributors. The book is organized in 20 chapters and has 2 appendices. Some chapters deal with general aspects (as Advances in Molecular Genetics, Antenatal Diagnosis: Giving the News, and Intervention and Alternative Therapies). An important chapter (Life with and for a Person with Down Syndrome) has been provided by the staff of the Down's Syndrome Association (England, Wales, and Northern Ireland). It points to the many everyday issues that families may experience!

A total of 14 chapters explain in a system-by-system guide the peculiarities and possible complications of the various organs/systems—and most complications are prevalent (e.g., chapters about hearing, vision, cardiovascular system, immune function, respiratory disease, growth, endocrine system, hematological disorders, gastrointestinal disorders, musculoskeletal and dermatological manifestations). At the end of each chapter, the “key points” are summarized. It is obvious that the biology of Down syndrome is very complex and multidimensional. By the way, one is reminded that solid tumors and coronary artery disease are less prevalent in Down syndrome. There are specific growth charts available and specific reference ranges for the hematological profile of neonates with Down syndrome.

In Appendix 1 (Medical Surveillance and Guidelines), I expected to find written guidelines and/or checklists. The reader is referred to the Web site of the Down Syndrome Medical Interest Group United Kingdom and Ireland (available at: www.dsmig.org.uk/publications/guidelines), including guidelines on hearing, vision, heart disease, thyroid disorder, cervical spine instability and growth. Appendix 2 (Some Additional Resources for Families) is centered on practice and resources available in the United Kingdom.

I found reading this volume very informative. I fully agree with Dr. Neil A. Harrower, who provided the Foreword, that this volume reflects authority and credibility. It is indeed a comprehensive guide to the delivery of health care for children and young people with Down syndrome. Therefore, I can highly recommend this book for professionals working in this field.