Down Syndrome Children - An Update


by

Mohammed Al-Biltagi

DOI: 10.2174/97816810813421150101
eISBN: 978-1-68108-134-2, 2015
ISBN: 978-1-68108-135-9



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This book describes different medical problems that children with Down syndrome can encounter. Twelve chapters written by medical expe...[view complete introduction]

Table of Contents

Foreword

- Pp. i-ii (2)

Y. Eugene Yu

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Preface

- Pp. iii-iv (2)

Mohammed Al-Biltagi

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List of Contributors

- Pp. v

Mohammed Al-Biltagi

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Epidemiology and Prevalence of Down Syndrome

- Pp. 3-44 (42)

Mohammed Al-Biltagi

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Genetics of Down Syndrome: An Update

- Pp. 45-60 (16)

Solaf M. Elsayed

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Neonates with Down Syndrome

- Pp. 31-106 (76)

Mohammed Al-Biltagi and Adel A. Hagag

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Cardiovascular Disorders in Children with Down Syndrome

- Pp. 107-170 (64)

Mohammed Al-Biltagi and Osama Abd Rab Elrasoul Tolba

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Respiratory Problems in Children with Down Syndrome

- Pp. 171-222 (52)

Mohammed Al-Biltagi

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Are Gastrointestinal Disorders of Real Concern in Children with Down Syndrome?

- Pp. 223-256 (34)

Mohammed Al-Biltagi

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Infection in Children with Down Syndrome

- Pp. 257-297 (41)

Nermin K. Saeed

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Update in Hematology and Oncology in Down Syndrome

- Pp. 298-312 (15)

Mohamed Ramadan El-Shanshory

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Neurological Manifestations of Down Syndrome

- Pp. 313-347 (35)

Ashraf El-Mitwalli

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Psychological Change in Down Syndrome Children and Adolescents

- Pp. 348-384 (37)

Mohammed Al-Biltagi, Fu Yong Jiao, Vivian Song, Feilan Lv, April Wang and Guoyan Lee

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Anesthesia in Down Syndrome Children

- Pp. 385-418 (34)

Mohammed Al-Biltagi, Hasan Alasy and Avijit Gaikwad

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Dental Problems in Down Syndrome Children

- Pp. 419-466 (48)

Mohammed Al-Biltagi, Ahmed Kamal Saeed, John Jacob Meakkara and Vikas Raj Somarajan

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Subject Index

- Pp. 467-471 (5)

Mohammed Al-Biltagi

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Foreword

English physician John Langdon Down was among the first to describe the disorder now called Down syndrome (DS) about 150 years ago. In 1959, Dr. Jerome Lejeune, a French scientist, reported that Down syndrome results from presence of an extra copy of human chromosome 21. Now we know that Down syndrome is the most common live-compatible human chromosomal abnormality, occurring in 1 in 700-800 newborns. Latest studies have shown that pregnancy termination rates following prenatal diagnoses have decreased the incidence of DS in recent years in some population groups, which may reflect advances in medical interventions for people with Down syndrome and progresses in educational and social support for their families. These advances have also significantly extended the life expectancy for people with Down syndrome. Therefore, Down syndrome will continue to affect a significant size of our population and thus remain as a major public health challenge in the future.

Due to the impacts of presence of an additional copy of the whole chromosome 21, individuals with Down syndrome exhibited a constellation of developmental abnormalities affecting many organ systems. Congenital heart defects, including atrioventricular defects, are discovered in about 50% of kids with Down syndrome. Meanwhile; about 10% of children with Down syndrome develop transient myeloproliferative disorder, and approximately 30% of these patients develop acute megakaryoblastic leukemia, which equates to just about 500- fold greater risk of having acute megakaryoblastic leukemia. Human trisomy 21 is the most frequent genetic cause for developmental cognitive disabilities. The brains of individuals with DS over the age of 40 show the neuropathological changes of Alzheimer’s disease.

The landmark discovery of human trisomy 21 as the chromosomal basis for Down syndrome has also positioned this disorder as the most complex human genetic disease compatible with postnatal survival. As a result, progress in Down syndrome research has been slow until 1990s when development of mouse models of Down syndrome, particularly Ts65Dn, enabled scientists to explore the disorder at the molecular, cellular, physiological and organismal levels. The convergence of recent advances in mammalian genome sequencing and chromosome engineering technology has opened up an unprecedented opportunity for unraveling the mechanisms underlying abnormal phenotypes in Down syndrome by generating and analyzing new mouse mutants with precise duplications and deletions of human chromosome 21 orthologous regions. Amidst these remarkable advances related to Down syndrome research, the publication of the e-book “Down syndrome children – an update” edited by Dr. Mohammed Al-Biltagi is welcome news, which will provide the latest information on medically important areas associated with Down syndrome, including the prevalence, genetics, infection in children with Down syndrome, cardiac, skeletal and dental abnormalities, biochemical, respiratory, gastrointestinal and psychological changes, neonatal, neurological, hematological problems, as well as problems with anesthesia. Such a timely update will surely benefit all of us who care so much about

Y. Eugene Yu
The Children’s Guild Foundation Down Syndrome Research Program
Genetics Program and Department of Cancer Genetics
Roswell Park Cancer Institute, USA


Preface

Down syndrome is the commonest genetic disease in the world; affecting all countries, all races, and both sexes. Since the comprehensive description of clinical features of the syndrome in 1866 by John Langdon Down; and its genetic basis in 1959, researches are still trying to study various aspects of this syndrome to improve the health and the quality of life of the affected people. This book “Down syndrome children - An update” is a compilation of Twelve excellent chapters, contributed by established researchers in the field and covering different aspects of the problems that a child with Down syndrome can enface.

In the first chapter; Dr. Al-Biltagi shed some light on the epidemiology of DS, the factors affecting the risk of Down syndrome, and the prevalence of DS in the different parts of the world. In chapter 2; Dr. Solaf discussed the genetic basis of this syndrome together and the role of different genes in development of various syndrome related diseases. Then in the third chapter; Dr. Al-Biltagi and Dr. Hagag discussed the various neonatal problems in DS. After that, Dr. Al-Biltagi and Prof. Osama Tolba shed some light on the various cardiac problems that a child with DS can have.

In the Fifth chapter, Dr. Al-Biltagi discussed the different respiratory disorders that children with Ds have and the prophylaxis against respiratory infections which are relatively common in children with DS. He also explained in the sixth chapter the different anatomical and functional gastrointestinal problems that are common in those children. At the same time, Dr. Saeed discussed in the seventh chapter, reasons for increased incidence of infection in children with DS as well as the different types of infections that children with DS are exposed to and the effect of the infection on DS and how to prevent these infections. Then Dr. El- Shanshory explained the different hematological problems that are frequently encountered in DS children in the eighth chapter. Then Dr. El-Mitwalli described the neuro-anatomic functions of the brain in DS and explained the different neurological disorders that are common in DS children in the Ninth chapter.

In the tenth chapter; Dr. Fu Yong Jiao and his colleagues described the mental development, the behavior phenotypes, the academic achievements in young people with DS as well as the psychology of sex, the various psychosocial problems in children and adolescents with DS and diagnosis, assessment and management of these disorders. In the eleventh chapter, Dr. Alasy and his colleagues described the various aspects of anesthesia related problems and their management in children with DS. Then Dr. Meakkara described the various dental problems and their management in twelfth chapter.

A great effort has been made to accomplish this book. It would not have been possible to complete this book without the sincere efforts of the authors, and especially the staff at Bentham Science Publishers, giving their continuous support. Their patience, enthusiasm and encouragement were a greatly appreciated source of strength during its extended preparation. Perhaps of greater importance, than the book and its many contributions, were the remarkable people that formed a unique collaborative team to make it happen.

Mohammed Al-Biltagi
Faculty of Medicine
Tanta University
Tanta
Egypt

List of Contributors

Editor(s):
Mohammed Al-Biltagi




Contributor(s):
Adel A. Hagag
Pediatric Department, Faculty of Medicine
Tanta University
Egypt


Ahmed K. Saeed
Ministry of Health
Kingdom of Bahrain


April Wang
Shaanxi Provincial People's Hospital
China


Ashraf El-Mitwalli
Mansoura University
Egypt


Avijit Gaikwad
American Mission Hospital, Bahrain. M.D
DNB University of Mumbai
India


Feilan Lv
Shaanxi Provincial People's Hospital
China


Fu Yong Jiao
Shaanxi Provincial People's Hospital
China


Guoyan Lee
Pediatricia Shaanxi Provincial People's Hospital
China


Hasan Alasy
Pediatric Department, Faculty of Medicine, Tanta University
Egypt


John Jacob Meakkara
International Hospital of Bahrain
Kingdom of Bahrain


Mohammed Al-Biltagi
Pediatric Department, Faculty of Medicine
Tanta University
Egypt


Mohammed Ramadan El-Shanshory
Hematology Unit, Faculty of Medicine
Tanta University
Egypt


Nermin K. Saeed
Microbiology Section, Pathology Department
Salmaniya Medical Complex
Kingdom of Bahrain


Osama Abd Rab Elrasoul Tolba
Pediatric Department, Faculty of Medicine
Tanta University
Egypt


Solaf M. Elsayed
Genetics Unit, Children's Hospital
Ain Shams University
Cairo
Egypt


Vikas Raj Somarajan
International Hospital of Bahrain
Kingdom of Bahrain


Vivian Song
Shaanxi Provincial People's Hospital
China




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