New genetic causes of mental retardation are being discovered at rapid rates--every day more people are diagnosed with specific syndromes. This comprehensive guide identifies characteristics of people with these syndromes to help you understand their behaviors and needs, provide better interventions, and create wider community inclusion. Through easy-to-read, detailed discussions of four major syndromes--Down, Williams, fragile X, and Prader-Willi--you'll learn about genetic causes and implications, cognitive profiles, medical complications, prevalence of these syndromes, speech and language issues, behavioral issues, and basic physical characteristics. You'll also find research-based intervention strategies that help you manage issues related to education, personal relationships, employment, and living arrangements. And you'll get in-depth information on five less researched syndromes: velocardiofacial, Rubinstein-Taybi, Angelman, Smith-Magenis, and 5p- (cri-du-chat). This book provides the solid foundation of knowledge you're looking for to better support individuals with genetic disorders.

Prader-Willi syndrome (PWS) is a rare, genetic, multisystemic disorder, characterised by short stature, muscular hypotonia, intellectual disability, behavioural and psychological problems and frequently hypogonadism and impaired growth hormone secretion. PWS arises due to loss of function of paternally-expressed, imprinted genes from chromosome region 15q11-q13. In new-borns and infants, the syndrome presents symptoms of muscular hypotonia and nutritional difficulties, which from the age of approximately two years is replaced by hyperphagia often leading to severe obesity. With increasing age the behavioural and psychological problems increase while the muscular hypotonia improves. During the last decades the knowledge of different aspects of PWS has increased and accordingly the treatment possibilities. However, no specific treatment exists and thus problems continue lifelong. Taking care of PWS patients is therefore a demanding task and necessitates a solid knowledge and understanding of the disorder as well as a multidisciplinary approach. This book will provide professionals taking care of patients with PWS with updated and comprehensive information and advise. The content is built up logically and it will be easy to navigate between the chapters, which cover all clinically relevant issues, genetics, signs and symptoms in children and adults, treatment, words from patients and parents, supporting organisations, and from a parent to a PWS patient.

The purpose of this book is to fill the gap in a largely neglected fundamental branch of biology and medicine that is now becoming a hot topic. Although interest in the excellent protective power of hereditary immunity was sporadically characteristic of the history of immunology, its investigation has been out of the main stream of the science. Its origin and the mode of action have been beyond comprehension and exploitation. The agnostic attitude began to change very dramatically only at the edge of XXl Century. Until now, there has been no review book on the entire topic of hereditary immunity published in English. This is the first in-depth analysis of hereditary immunity both in the investigation of life and in health care.

Fragile X syndrome (FXS), is the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities (sometimes referred to as mental retardation). FXS is the most common known cause of autism or 'autistic-like' behaviour. Symptoms also can include characteristic physical and behavioural features and delays in speech and language development. This new book presents the latest research in this field.

This concise manual provides clinicians and other related health care professionals with an essential reference tool to the background of cystic fibrosis, and the management and treatment of this disease. The latest guidelines are reviewed and current and emerging treatments are discussed in the latter chapters. Cystic fibrosis is an inherited condition where a mutation in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) causes loss of function. The dysfunction of CFTR results in the production of thick mucus in the lungs and digestive tract, causing pulmonary and gastrointestinal manifestations. The incidence of cystic fibrosis in Europe and the US ranges between 1 in 2,000 and 1 in 25,000.

Clinical Diagnosis of Congenital Heart Disease is the latest edition of this comprehensive, highly illustrated guide to the diagnosis of congenital heart disease. Divided into 31 sections, each chapter discusses a different aspect of congenital heart disease, clearly explaining history, assessment, imaging, clinical diagnosis and management techniques. This third edition has been fully revised to provide the latest advances in the field, with in depth discussion on new diagnostic modalities. Each topic concludes with a summary of key points, and includes schematic diagrams depicting abnormal anatomy and its pathophysiological consequences. Key Points Highly illustrated guide to diagnosis of congenital heart disease Fully revised, third edition with in depth discussion on new diagnostic modalities Each topic features a summary of key points and schematic diagrams of abnormal anatomy Previous edition (9789351529125) published in 2015

Can you imagine not being able to speak or communicate? The silence, the loneliness, the pain. But, inside you disappear to magical places, and even meet your best friend there. However, most of the time you remain imprisoned within the isolation. Waiting, longing, hoping. Until someone realises your potential and discovers your key, so your unlocking can begin. Now you are free, flying like a wild bird in the open sky. A voice for the voiceless. Jonathan Bryan has severe cerebral palsy, a condition that makes him incapable of voluntary movement or speech. He was locked inside his own mind, aware of the outside world but unable to fully communicate with it until he found a way by using his eyes to laboriously choose individual letters, and through this make his thoughts known. In Eye can Write, we read of his intense passion for life, his mischievous sense of fun, his hopes, his fears and what it's like to be him. This is a powerful book from an incredible young writer whose writing ability defies age or physical disability - a truly inspirational figure. Foreword by Sir Michael Morpurgo A portion of the proceeds from the sale of this book will be donated to Jonathan Bryan's charity, Teach Us Too. http://www.teachustoo.org.uk/

Myotonic dystrophy is a multisystemic disorder. The epidemiology of DM is examined in the first chapter of this book as well as potential therapeutic strategies. The authors then go on to review the various involvement of the endocrine system in myotonic dystrophy and therapeutic strategies are proposed. The fourth chapter gives an overview on the diagnostic assessment and management of distinct clinical manifestations of CNS (Central Nervous System) involvement in DM patients, and the main topics regarding its pathogenesis are explored. The next chapter focuses on the strategy of neuromuscular blockage for patients with myotonic dystrophy, especially focusing on premedication, induction of anaesthesia, response to muscle relaxants, the crucial points of safe anaesthesiological care and other perioperative triggers. The development of biomarkers is of high importance in the diagnosis and monitoring of diseases and thus is examined with relation to DM1 (myotonic dystrophy type 1) patients. Other chapters summarize the different rehabilitative approaches that have been proposed in this disease; the novel, interesting findings of therapeutic potential to target DM1 with small molecule kinase inhibitors and the promises his may provide to this devastating disorder; the controversial, phenotypical consequences of the interrupted alleles on DM1 patients; and the sleep disorders associated with myotonic dystrophies.

This book on Hirschsprung's disease (HD) contains a complete update on the various aspects of this disease. It is the collaboration of an international group of paediatric surgeons well-known in their fields who are experts in this pathology and of other prestigious professionals -- neurobiologists, physiologists, geneticists, paediatricians, and histopathologists. Over the course of 28 chapters, these authors describe the latest advances in the diagnosis and treatment of this pathology. The first part is an update of the anorectal physiology, pathophysiology, genetics, and histopathology. The second part deals with the clinical manifestations and diagnosis in the new-born, with especial reference to manometric diagnosis during the neonatal period and to the morphological and radiological study. Other important chapters are devoted to differential diagnosis, preoperative care, indications for ostomy, and preparing the child for the pull-through. The third part describes the various classical surgical options (Swenson, Duhamel, Soave, Rehbein), and the new methods using laparoscopy and transanal pull-through, which have been the major breakthrough in the treatment of this condition. Total colonic aganglionosis and the critical review of the different surgical techniques occupy two magisterial chapters. The fourth part comprises an extensive exposition of enterocolitis in HD, the long-term results following surgery, other variants of HD, and two novel chapters in treatises on this disease (intestinal transplants and nutrition). In the Annex, parents of children with this disease describe their experience. The book ends with a final chapter devoted to informed consent. This book will be an invaluable reference for paediatric surgeons and paediatricians and gastroenterologists, and has a special interest for parents of children with Hirschsprung's disease.

Recent years have seen rapid advances in our understanding of genetic diseases in terms of their molecular origins. The book focuses on DNA mutations which give rise to abnormalities of protein structure and function in genetic disease.

This second edition has been comprehensively updated to reflect current clinical practice and the latest technical developments, including pre-implantation genetic diagnosis, array CGH, QF-PCR, non-invasive prenatal diagnosis and next generation sequencing amongst others. The first section covers basic principles, while the second outlines the more common situations where obstetrics and gynaecology interact with medical genetics. The third section contains real-life clinical case scenarios which have been selected to represent typical problems and to highlight areas which, if mismanaged, could have serious medico-legal consequences. Together with its accompanying website (www.essentialmedgen.com), it provides an invaluable guide to the use and selection of useful online genetic resources. This book is essential reading for candidates preparing for the MRCOG postgraduate examination, and any health professionals requiring a clear understanding of medical genetics and its increasingly frequent uses in obstetrics and gynaecology, where incorrect genetic advice can have serious consequences.

A practical approach to the investigation and treatment of adult congenital heart disease (ACHD), this fully updated Oxford Specialist Handbook is a concise and accessible overview of a complex condition. Packed with straightforward advice, management strategies and key clinical points, it equips clinicians with a sound understanding of the principles and physiology of ACHD. An ideal reference tool for cardiology trainees, general cardiologists and acute medicine physicians, this second edition of Adult Congenital Heart Disease has been fully reviewed to include new guidelines and increased illustations to aid understanding. Brand new chapters on epidemiology, heart failure, device therapy and transition and transfer of care ensure that Adult Congenital Heart Disease remains the definitive guide to supporting clinicians throughout all aspects of the patient's care.

The first advanced-level genetics counseling skills resource

As genetic medicine and testing continue to expand, so the role of the genetic counselor is transforming and evolving. "Genetic Counseling Practice: Advanced Concepts and Skills" is the first text to address ways that genetic counselors can deepen their skills to meet expanding practice demands. This timely resource not only helps readers further develop their abilities to gather relevant data and interpret it for patients, it also aids them in surpassing their usual role by truly understanding patient situations, incorporating patient values into clinical practice, providing in-depth support, and facilitating thoroughly informed, autonomous decisions.

Edited by an expert cross-disciplinary team consisting of a genetic counseling program director, a licensed psychologist, and a nurse/bioethicist/family social scientist, this authoritative reference provides specific and detailed instruction in addressing psychosocial aspects of genetic counseling practice and professional development and training issues of genetic counselors.

Provides a "process" view of genetic counselor service provision; i.e., skills that promote desired genetic counseling outcomes are emphasized (such as relationship skills, patient characteristics, client behaviors, and extra-clinical skills)

Includes experiential activities in every chapter to help readers apply concepts and skills

Draws on the experience of widely recognized experts in genetic counseling theory, practice, and research, who serve as chapter authors

Features numerous specific, real-life examples from clinical practice

"Genetic Counseling Practice" addresses issues relevant to practicing genetic counselors as well as students of genetic counseling programs. In addition, oncology nurses, social workers, and psychologists working with genetic counseling patients and families; medical geneticists and physicians training in the field; and physician assistants will also benefit from this resource.

During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.

In recent years, doctors and scientists have made great strides in increasing our knowledge of hundreds of genetic disorders. Many serious disorders have now been identified as having a genetic basis, and treatment for birth defects has improved substantially.""The Encyclopedia of Genetic Disorders and Birth Defects, Third Edition"" offers lay readers and professionals alike the most comprehensive single-volume reference to congenital disorders and birth defects. This accessible volume contains more than 1,000 expertly written entries - including more than 135 new entries and more than 60 revised entries, extensive appendixes providing updated tables of statistics and directories of service and support groups, and a concise introductory history of human genetics. This new edition has been extensively updated to reflect the most current research.

Recent advances in genetic methodology are providing important aetiological and developmental information to the growing literature on Attention Deficit Hyperactivity Disorder (ADHD) and related conditions. Attention, Genes and ADHD is the first book to review and integrate both behaviour-genetic and molecular-genetic advances in this area. It brings together international researchers to show how modern techniques may be applied to the investigation of ADHD, and reviews current findings in the field of ADHD and related conditions.
The book looks at the application of behaviour genetic approaches to twin studies, and reviews diagnostic to ADHD, the relationships between reading, spelling and ADHD, and family and genetic influences on speech and speech and language.
Chapters go on to consider the overlaps between ADHD, Oppositional Defiant Disorder and Conduct Disorder and to explore the environmental and genetic influences among these disorders. The neurobiological and genetic relationship between ADHD and Tourette's Disorder is also examined. The book reviews recent advances in molecular genetics - in particular a discussion of Fragile X as a model for a single single gene effects on ADHD, and the application of genetic methods and approaches to the study of candidate genes. Finally, the implications for education and intervention are discussed, and current and future roles of gentic studies of ADHD are explored, as well as implications of the sequencing of the human genome for child psychiatry.

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Recent developments in diagnostic and therapeutic aspects of cardiac and neonatal issues have advanced the care of the newborn. In order to achieve excellence in cardiac care, however, close interaction and collaboration of the pediatric cardiologists with neonatologists, pediatricians, general/family practitioners (who care for children), anesthesiologists, cardiac surgeons, pediatric cardiac intensivists, and other subspecialty pediatricians is mandatory. This book provides the reader with up-to-date, evidence-based information in three major areas of neonatology and prenatal and neonatal cardiology. First, it offers an overview of advances in the disciplines of neonatology, prenatal and neonatal cardiology, and neonatal cardiac surgery in making early diagnosis and offering treatment options. Secondly, it presents a multidisciplinary approach to managing infants with congenital heart defects. Finally, it provides evidence-based therapeutic approaches to successfully treat the fetus and the newborn with important neonatal issues and congenital cardiac lesions.This second volume specifically explores issues related to individual cardiac defects, cardiomyopathies, and hypertension and presents a summary and conclusions of both volumes.

An expert assessment of striking recent developments in molecular genetics and their implications for medical practice at present and in the immediate future. Adopting a public health approach the report aims to help medical decision-makers and practitioners understand both the technical basis of progress and its potential to revolutionize the management of numerous diseases. Advances in the prevention and treatment of classical genetic disorders are considered together with newer opportunities opened by knowledge that many common disorders including coronary heart disease and certain cancers have a genetic component. Throughout the report a special effort is made to help planners in developing and developed countries alike reap the full public health benefits of technologies that are becoming increasingly powerful simple and inexpensive to use. Information ranges from a discussion of the state-of-the-art in gene therapy through a tabular summary of treatment results for specific congenital anomalies to advice on ways to integrate simple genetic approaches into everyday medical practice. Relevant ethical social and legal issues are also critically assessed in an effort to provide comprehensive guidance. The report has eight sections. Background information is provided in the first which explains the structure and functions of DNA summarizes knowledge about the genetic basis of both single-gene and multifactorial disorders and traces the spectacular development of DNA technology and diagnostic tests over the past decade. The Human Genome Project - and its potential to transform medical practice on many levels - are also explained in detail. A section on epidemiology discusses factors influencing the frequency of genetic and congenital disorders and describes opportunities for their management and prevention. The impact that these advances will have on the demand for genetic services is also assessed. The large scale of implications for medical practice is underscored in the third section which reviews and interprets growing knowledge about the genetic component of many common disorders including coronary heart disease certain cancers asthma diabetes mental disorders and Alzheimer disease. A comprehensive review of current and future opportunities for prevention including both genetic family studies and population screening is followed by sections covering the basic principles of genetic counseling and opportunities within the context of obstetric care for prenatal diagnosis using ultrasound scanning and DNA technology. The remaining sections offer advice on the organization of genetic services in industrialized and developing countries alike and discuss the ethical social and legal aspects of genetic technology in medicine concluding that the broadest ethical issue in the area of genetic services is their limited availability.

Examines common hereditary diseases and ways of avoiding them, discussing diabetes, heart disease, cancer, alcoholism, and the exploration of one's family medical tree.