Download or read book Trisomy 21 written by André Frank Zimpel and published by Vandenhoeck & Ruprecht. This book was released on 2016-07-11 with total page 213 pages. Available in PDF, EPUB and Kindle. Book excerpt: For a long time, it was assumed that a genetic disposition such as trisomy 21 enables predictions to be made about overall personality development. But, who could have ever imagined that people with trisomy 21 (Down syndrome) would also be capable of earning a university degree? We studied 1,294 people with trisomy 21. The results showed that people with trisomy 21 benefit more from abstract learning than their neurotypical counterparts. Two-year-olds with the syndrome first learn to read and only then to speak and will understand algebra better than arithmetic. Ignorance of neurodiversity inevitably leads to learning difficulties when these people are forced to learn at the same pace as others. This applies to autism and trisomy 21 to the same extent. That is why this book advocates the recognition of trisomy 21 as a variant in the spectrum of human neurodiversity.

Download or read book Down Syndrome From Understanding the Neurobiology to Therapy written by and published by Elsevier. This book was released on 2012-10-16 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Download or read book Up Not Down Syndrome written by Nancy M. Schwartz and published by Modern History Press. This book was released on 2020-04-01 with total page 126 pages. Available in PDF, EPUB and Kindle. Book excerpt: Up, Not Down Syndrome is a love letter and a map. Experience how it feels to think your life is over after having an unlovable baby. At first the loss seems impossible to overcome. Alex becomes the author's greatest teacher. Love is stronger than fear. Everyone has gifts. The book consists of three parts: the story, the lessons Alex taught the writer and Alex's perspective. Up, Not Down Syndrome is a promise to stay positive, no matter what: up, not down. Nancy's journey gets to the core of what it is to be human: * Explore what it feels like to think life, as you know it, is over. * Discover the fierce love, joy and peace a baby diagnosed with Trisomy 21 (Down syndrome) brings. * Learn the lessons this child taught his mom. * Understand the gift this baby brings to our world. * Realize the depth of the love this family has for the child. "A beautiful, honest account of not just accepting--but embracing--the unknown. Nancy shows us the blessing of an unexpected gift and the enormity of love." --Sara Byala, Ph.D. "This is a wonderful book to remind you that the joy of love is possible in unexpected places when you open your heart to it." --Barbara Taylor Bowman, Irving B. Harris Professor of Child Development "A moving and wise story of how a family navigates through hope, loss, learning and, most of all, love." --Rabbi David Wolpe, author of David: The Divided Heart "The truth and beauty of Nancy Schwartz's words tell an ongoing story of love, learning and the power of acceptance. All can learn from this family's boundless hope and from their source of joy and strength: Alex." --April Beard, Music Educator and Cellist Learn more at www.UpNotDownBook.com From Modern History Press www.ModernHistoryPress.com

Download or read book The Molecular Biology of Down Syndrome written by G. Lubec and published by Springer Science & Business Media. This book was released on 1999-12-02 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.

Download or read book Primary Cilia written by and published by Academic Press. This book was released on 2009-11-30 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent years, the role of cilia in the study of health, development and disease has been increasingly clear, and new discoveries have made this an exciting and important field of research. This comprehensive volume, a complement to the new three-volume treatment of cilia and flagella by King and Pazour, presents easy-to-follow protocols and detailed background information for researchers working with cilia and flagella. *Covers protocols for primary cilia across several systems and species * Both classic and state-of-the-art methods readily adaptable across model systems, and designed to last the test of time * Relevant to clinicians and scientists working in a wide range of fields

Download or read book Chromosomal Variation in Man written by Digamber S. Borgaonkar and published by John Wiley & Sons. This book was released on 1984 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Downs written by David Wright and published by Oxford University Press. This book was released on 2011-08-25 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt: Editorial Advisor, Helen Bynum is a freelancer historian and author. --Book Jacket.

Download or read book Genetics and Etiology of Down Syndrome written by Subrata Dey and published by BoD – Books on Demand. This book was released on 2011-08-29 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise yet comprehensive source of current information on Down syndrome. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. This book has been divided into four sections, beginning with the Genetics and Etiology and ending with Prenatal Diagnosis and Screening. Inside, you will find state-of-the-art information on: 1. Genetics and Etiology 2. Down syndrome Model 3. Neurologic, Urologic, Dental

Download or read book Facts about Down Syndrome written by and published by . This book was released on 1984 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book OBSTETRICS written by and published by . This book was released on 2016 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book The Pediatric and Adolescent Hip written by Sattar Alshryda and published by Springer. This book was released on 2019-06-28 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an evidence-based approach to treating the increasing number of children and adolescents presenting with hip disorders. It integrates the most up-to-date data with essential knowledge, gleaned from decades of previous research and practice. Each chapter provides a comprehensive text which integrates relevant pathophysiology, clinical assessment, and imaging, with an evidence-based approach to non-operative and operative management, authored by globally recognized experts in the field of pediatric hip surgery. Detailed surgical techniques, illustrated with original medical drawings and accompanied by their respective indications, anticipated outcomes, and potential complications, are also featured, in this first orthopedic text dedicated solely to the pediatric and adolescent hip. The Paediatric and Adolescent Hip: Essentials and Evidence will be an indispensable resource for wide spectrum of audience including paediatric orthopaedic surgeons, general practitioners, general orthopaedic surgeons, trauma surgeons, orthopaedic residents, emergency department doctors, and physiotherapists seeking a clear and consistent evidence-based guide to treating the paediatric hip.

Download or read book Down Syndrome written by William I. Cohen and published by John Wiley & Sons. This book was released on 2003-04-14 with total page 493 pages. Available in PDF, EPUB and Kindle. Book excerpt: Der Band bietet einen aktuellen Überblick über klinische, entwicklungsbezogene, psychosoziale, erziehungs- und berufsbezogene Fragen bei Patienten mit Down Syndrom. Er diskutiert auch die Konsequenzen des Human-Genom-Projektes und die Sequenzierung des Chromosom 21. Erörtert aktuellste Entwicklungen, u.a. zum Thema Sexualität, Einbeziehung, Übergang ins Erwachsenenalter und Rechtsprechung. Behandelt die aktuellsten Neuerungen der "Health Care Guidelines for Individuals with Down Syndrome". Enthält auch Material zu mitunter kontrovers diskutierten alternativen und unkonventionellen Therapieansätzen.

Download or read book Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities written by Fabrizio Barbetti and published by . This book was released on 2017 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume, written by renowned experts, provides complete coverage of the main genetic conditions associated with diabetes. Divided into five sections, it offers insights into genetic defects involving the pancreatic beta cell, extreme insulin resistance, ciliopathies, obesity and glucose metabolism, chromosomal defects, and other genetic conditions associated with increased susceptibility to diabetes. Other topics include the various subtypes of monogenic diabetes, such as the neonatal form and the Wolfram syndrome, as well as chromosomal defects leading to complex conditions affiliated with diabetes, like Trisomy 21 or Prader-Willi syndrome. There are also chapters dedicated to the poorly explored relationships between metabolism and neurodegenerative disorders like Friedreich's ataxia and muscular dystrophy. This book is a reference for every pediatric and adult endocrinologist and diabetologist, even experienced ones, with an interest in the intricacies and protean aspects of disorders of glucose metabolism secondary to genetic diseases.

Download or read book Handbook of Fetal Medicine written by Sailesh Kumar and published by Cambridge University Press. This book was released on 2010-07-01 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Fetal Medicine provides a concise and practical guide to the modern management of normal pregnancy and the at-risk fetus. Comprehensive in scope, in an easy-to-use format, the book provides guidance on a wide range of conditions, best practice management strategies and treatment options in maternal-fetal medicine. Each system-based chapter has a brief introduction on embryology and discusses the key genetic developments and relevant developmental abnormalities. The book begins by addressing genetic disorders such as Down syndrome, and goes on to consider skeletal and bodily system abnormalities. All key management points are highlighted and data on long-term outcomes are provided. This book will appeal to maternal-fetal medicine specialists, subspecialty trainees, obstetricians and midwives as a useful practical reference tool in daily practice. It is particularly suitable for trainees in Obstetrics & Gynaecology preparing for the post graduate examinations.

Download or read book Trisomy 21 Down Syndrome written by Symposium on Trisomy 21 and published by . This book was released on 1990 with total page 330 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Early Communication Skills for Children with Down Syndrome written by Libby Kumin and published by Woodbine House. This book was released on 2012 with total page 391 pages. Available in PDF, EPUB and Kindle. Book excerpt: Newly revised and updated, this compassionate and authoritative guide is based on Libby Kumin's more than thirty years experience working with children and adolescents with Down syndrome and their families. As the founder of the Down Syndrome Center for Excellence at Loyola University in Maryland, she draws on her vast experience to show parents how they can support and encourage their child's speech and language development from birth to age 6 (or when a child can form 2- to 3- word sentences). Parents and teachers learn how to work through characteristic challenges, including hearing loss, intelligibility issues, apraxia (difficulty planning oral-motor movements), or a slower pace of development. Families soon see that many children with Down syndrome are natural and willing communicators. In a warm and conversational style, the author shares her professional expertise in parent-friendly terms. She uses specific examples of difficulties and successes to illustrate the concepts behind speech and language development, and includes the latest research supporting current early intervention and preschool approaches that can be used at home and in schools. This third edition of EARLY COMMUNICATION SKILLS features expanded information on the needs of children with apraxia, dual diagnosis of autism and Down syndrome, and updated terminology and information on special education law. A new chapter explains how technology and augmentative and alternative communication (AAC) ? smartphones, iPods, iPads, and apps ? can help with speech and language, foster communication, and provide inexpensive transitional language systems. Dozens of forms are now included on a CD-ROM to be used for assessment, developing treatment plans, and keeping detailed records of progress. Teachers, speech-language pathologists, and parents will love the convenience of printing multiple copies of forms and organizing information for IEP meetings or periodic evaluations.

Download or read book Trisomy 21 written by G.R. Burgio and published by Springer Science & Business Media. This book was released on 2013-03-07 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: With contributions by numerous experts