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Author : Regina Dahlhaus
Publisher : Frontiers Media SA
ISBN 13 : 288971845X
Total Pages : 255 pages
Book Rating : 4.8/5 (897 download)
Download or read book The Fragile X Syndrome – Where Do We Go? written by Regina Dahlhaus and published by Frontiers Media SA. This book was released on 2021-12-22 with total page 255 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Kay E. Davies
Publisher : Oxford University Press, USA
ISBN 13 :
Total Pages : 150 pages
Book Rating : 4.3/5 (91 download)
Download or read book The Fragile X Syndrome written by Kay E. Davies and published by Oxford University Press, USA. This book was released on 1989 with total page 150 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome. The book includes the latest research findings concerning diagnosis on the basis of the appearance of a fragile site in cultured lymphocytes. It assumes little prior knowledge of the subject, and provides a clearly written, easy-to-understand discussion previously unavailable in a single reference source. The book will be of special interest to molecular biologists, cytogeneticists, medical geneticists, and clinicians and other professionals working with the mentally handicapped.
Author : Isabel Fernández Carvajal
Publisher : Jessica Kingsley Publishers
ISBN 13 : 0857004379
Total Pages : 114 pages
Book Rating : 4.8/5 (57 download)
Download or read book Understanding Fragile X Syndrome written by Isabel Fernández Carvajal and published by Jessica Kingsley Publishers. This book was released on 2011-08-15 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the same gene is also the basis for neurological disabilities in adults. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome. This handbook offers a straightforward introduction that clearly explains the condition on both a scientific and practical level. With sections on diagnosis, symptoms and treatment, as well as discussions of various emotional and behavioral considerations, the book covers all aspects Fragile X syndrome, its implications, and the possibilities open to families affected by it. The book demonstrates how with the right therapies progress can be made and emphasizes how music can be used effectively to promote communication, interaction, fine motor skills and responsiveness in children with the condition. This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and looking to find out more.
Author : Anne Skomorowsky
Publisher : Columbia University Press
ISBN 13 : 0231552289
Total Pages : 118 pages
Book Rating : 4.2/5 (315 download)
Download or read book The Carriers written by Anne Skomorowsky and published by Columbia University Press. This book was released on 2022-05-03 with total page 118 pages. Available in PDF, EPUB and Kindle. Book excerpt: A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome—and all too often, they suffer in silence. The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades. The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality.
Author : Denise Dew-Hughes
Publisher : Routledge
ISBN 13 : 1134378114
Total Pages : 209 pages
Book Rating : 4.1/5 (343 download)
Download or read book Educating Children with Fragile X Syndrome written by Denise Dew-Hughes and published by Routledge. This book was released on 2003-12-16 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides invaluable information, support and guidance on educating a child with Fragile X, background on the origins of this syndrome, and what the implications are for such a child's teaching and learning.
Author : Gail Harris-Schmidt
Publisher :
ISBN 13 :
Total Pages : 170 pages
Book Rating : 4.E/5 ( download)
Download or read book The Source for Fragile X Syndrome written by Gail Harris-Schmidt and published by . This book was released on 2004 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Randi Jenssen Hagerman
Publisher :
ISBN 13 : 9780801853883
Total Pages : 481 pages
Book Rating : 4.8/5 (538 download)
Download or read book Fragile X Syndrome written by Randi Jenssen Hagerman and published by . This book was released on 1996 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine
Author : Randi Jenssen Hagerman
Publisher : JHU Press
ISBN 13 : 9780801868436
Total Pages : 562 pages
Book Rating : 4.8/5 (684 download)
Download or read book Fragile X Syndrome written by Randi Jenssen Hagerman and published by JHU Press. This book was released on 2002-05-17 with total page 562 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X syndrome is the most common inherited form of mental retardation. Revised for its third edition, this book discusses the clinical approach to diagnosing the disorder, supported by current research, and presents information on treatment.
Author : Judith M. Rumsey
Publisher : Cambridge University Press
ISBN 13 : 1139476750
Total Pages : 473 pages
Book Rating : 4.1/5 (394 download)
Download or read book Neuroimaging in Developmental Clinical Neuroscience written by Judith M. Rumsey and published by Cambridge University Press. This book was released on 2009-02-19 with total page 473 pages. Available in PDF, EPUB and Kindle. Book excerpt: Modern neuroimaging offers tremendous opportunities for gaining insights into normative development and a wide array of developmental neuropsychiatric disorders. Focusing on ontogeny, this text covers basic processes involved in both healthy and atypical maturation, and also addresses the range of neuroimaging techniques most widely used for studying children. This book will enable you to understand normative structural and functional brain maturation and the mechanisms underlying basic developmental processes; become familiar with current knowledge and hypotheses concerning the neural bases of developmental neuropsychiatric disorders; and learn about neuroimaging techniques, including their unique strengths and limitations. Coverage includes normal developmental processes, atypical processing in developmental neuropsychiatric disorders, ethical issues, neuroimaging techniques and their integration with psychopharmacologic and molecular genetic research approaches, and future directions. This comprehensive volume is an essential resource for neurologists, neuropsychologists, psychiatrists, pediatricians, and radiologists concerned with normal development and developmental neuropsychiatric disorders.
Author : Dalit Ben-Yosef
Publisher : Humana Press
ISBN 13 : 9781493990795
Total Pages : 192 pages
Book Rating : 4.9/5 (97 download)
Download or read book Fragile-X Syndrome written by Dalit Ben-Yosef and published by Humana Press. This book was released on 2019-03-08 with total page 192 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume discusses the latest technologies used to study all aspects of Fragile-X Syndrome (FXS). The chapters in this book cover topics such as monitoring for epigenetic modifications at the FMR1 locus; modeling FXS with human pluripotent stem cells, mouse neural progenitors; mouse versus human-based models for FXS pre-clinical research; and Fragile-X associated with Tremor/Ataxia Syndrome (FXTAS). Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and thorough, Fragile-X Syndrome: Methods and Protocols is a valuable tool to help scientists working towards one day developing a therapeutic solution to improve the symptoms of FXS. Chapter "Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
Author : Gerard Blokdyk
Publisher : Createspace Independent Publishing Platform
ISBN 13 : 9781979888424
Total Pages : 130 pages
Book Rating : 4.8/5 (884 download)
Download or read book Fragile X Syndrome written by Gerard Blokdyk and published by Createspace Independent Publishing Platform. This book was released on 2017-11-21 with total page 130 pages. Available in PDF, EPUB and Kindle. Book excerpt: Does Fragile X syndrome systematically track and analyze outcomes for accountability and quality improvement? How do we go about Securing Fragile X syndrome? How can we improve Fragile X syndrome? What are the compelling business reasons for embarking on Fragile X syndrome? Is a fully trained team formed, supported, and committed to work on the Fragile X syndrome improvements? Defining, designing, creating, and implementing a process to solve a business challenge or meet a business objective is the most valuable role... In EVERY company, organization and department. Unless you are talking a one-time, single-use project within a business, there should be a process. Whether that process is managed and implemented by humans, AI, or a combination of the two, it needs to be designed by someone with a complex enough perspective to ask the right questions. Someone capable of asking the right questions and step back and say, 'What are we really trying to accomplish here? And is there a different way to look at it?' For more than twenty years, The Art of Service's Self-Assessments empower people who can do just that - whether their title is marketer, entrepreneur, manager, salesperson, consultant, business process manager, executive assistant, IT Manager, CxO etc... - they are the people who rule the future. They are people who watch the process as it happens, and ask the right questions to make the process work better. This book is for managers, advisors, consultants, specialists, professionals and anyone interested in Fragile X syndrome assessment. All the tools you need to an in-depth Fragile X syndrome Self-Assessment. Featuring 692 new and updated case-based questions, organized into seven core areas of process design, this Self-Assessment will help you identify areas in which Fragile X syndrome improvements can be made. In using the questions you will be better able to: - diagnose Fragile X syndrome projects, initiatives, organizations, businesses and processes using accepted diagnostic standards and practices - implement evidence-based best practice strategies aligned with overall goals - integrate recent advances in Fragile X syndrome and process design strategies into practice according to best practice guidelines Using a Self-Assessment tool known as the Fragile X syndrome Scorecard, you will develop a clear picture of which Fragile X syndrome areas need attention. Included with your purchase of the book is the Fragile X syndrome Self-Assessment downloadable resource, which contains all questions and Self-Assessment areas of this book in a ready to use Excel dashboard, including the self-assessment, graphic insights, and project planning automation - all with examples to get you started with the assessment right away. Access instructions can be found in the book. You are free to use the Self-Assessment contents in your presentations and materials for customers without asking us - we are here to help.
Author : Gerardus Blokdyk
Publisher : Createspace Independent Publishing Platform
ISBN 13 : 9781983788253
Total Pages : 130 pages
Book Rating : 4.7/5 (882 download)
Download or read book Fragile X Syndrome written by Gerardus Blokdyk and published by Createspace Independent Publishing Platform. This book was released on 2018-01-13 with total page 130 pages. Available in PDF, EPUB and Kindle. Book excerpt: Does Fragile X syndrome systematically track and analyze outcomes for accountability and quality improvement? How do we go about Securing Fragile X syndrome? How can we improve Fragile X syndrome? What are the compelling business reasons for embarking on Fragile X syndrome? Is a fully trained team formed, supported, and committed to work on the Fragile X syndrome improvements? Defining, designing, creating, and implementing a process to solve a business challenge or meet a business objective is the most valuable role... In EVERY company, organization and department. Unless you are talking a one-time, single-use project within a business, there should be a process. Whether that process is managed and implemented by humans, AI, or a combination of the two, it needs to be designed by someone with a complex enough perspective to ask the right questions. Someone capable of asking the right questions and step back and say, 'What are we really trying to accomplish here? And is there a different way to look at it?' For more than twenty years, The Art of Service's Self-Assessments empower people who can do just that - whether their title is marketer, entrepreneur, manager, salesperson, consultant, business process manager, executive assistant, IT Manager, CxO etc... - they are the people who rule the future. They are people who watch the process as it happens, and ask the right questions to make the process work better. This book is for managers, advisors, consultants, specialists, professionals and anyone interested in Fragile X syndrome assessment. All the tools you need to an in-depth Fragile X syndrome Self-Assessment. Featuring 692 new and updated case-based questions, organized into seven core areas of process design, this Self-Assessment will help you identify areas in which Fragile X syndrome improvements can be made. In using the questions you will be better able to: - diagnose Fragile X syndrome projects, initiatives, organizations, businesses and processes using accepted diagnostic standards and practices - implement evidence-based best practice strategies aligned with overall goals - integrate recent advances in Fragile X syndrome and process design strategies into practice according to best practice guidelines Using a Self-Assessment tool known as the Fragile X syndrome Scorecard, you will develop a clear picture of which Fragile X syndrome areas need attention. Included with your purchase of the book is the Fragile X syndrome Self-Assessment downloadable resource, which contains all questions and Self-Assessment areas of this book in a ready to use Excel dashboard, including the self-assessment, graphic insights, and project planning automation - all with examples to get you started with the assessment right away. Access instructions can be found in the book. You are free to use the Self-Assessment contents in your presentations and materials for customers without asking us - we are here to help.
Author : Grant R. Sutherland
Publisher :
ISBN 13 :
Total Pages : 312 pages
Book Rating : 4.:/5 (49 download)
Download or read book Fragile Sites on Human Chromosomes written by Grant R. Sutherland and published by . This book was released on 1985 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile sites--points where chromosomes are apt to break--came to prominence in the late 1970s and are now the subject of much clinical concern and laboratory investigation. They are known or suspected agents in the genesis of mental retardation, birth defects, and cancer. This book, the first to deal with fragile sites on human chromosomes, takes a broad interdisciplinary approach to the subject, incorporating findings from cytogenetics, medical and clinical genetics, population genetics, mental retardation, dysmorphology, and oncology. The book has three interrelated sections. The first, focusing on the laboratory, presents what is known about fragile sites, their cytogenetics, and the conditions of cell culture needed to demonstrate them. A clinical section follows, covering X-linked forms of mental retardation, the clinical features associated with the fragile X, and genetic counseling with fragile sites. The final section considers fragile sites as they relate to genetics, including the possible relationship of fragile sites to cancer and to constitutional chromosome abnormalities. This book contains much previously unpublished material and will be an important resource for geneticists and cytogeneticists, molecular and cancer biologists, oncologists, pediatricians, and other health professionals.
Author : Rob Willemsen
Publisher : Academic Press
ISBN 13 : 0128045078
Total Pages : 500 pages
Book Rating : 4.1/5 (28 download)
Download or read book Fragile X Syndrome written by Rob Willemsen and published by Academic Press. This book was released on 2017-05-26 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders. “This fascinating book, edited by Rob Willemsen and Frank Kooy, summarizes the current knowledge of the molecular aspects of fragile X syndrome (FXS), andthe potential for therapies resulting from this knowledge...Particularly interesting is a review “fragile X research from a parental perspective,” which summarizes the results of an international survey of the attitudes of families with FXS relatives towards research...This book is also an essential reference book for genetic counselors...The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. Many parents acquire a substantial knowledge of the conditions afflicting their children. The book will be helpful for both families and counselors to manage the expectations of families participating in clinical trials...In conclusion, this book is essential for everyone who is involved in the diagnosis and treatment of FXS patients.” - European Journal of Human Genetics (September 2018) Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome Written for academic researchers, pharmaceutical investigators, and clinicians in the field Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians
Author :
Publisher : ScholarlyEditions
ISBN 13 : 1481652567
Total Pages : 50 pages
Book Rating : 4.4/5 (816 download)
Download or read book Fragile X Syndrome: New Insights for the Healthcare Professional: 2013 Edition written by and published by ScholarlyEditions. This book was released on 2013-07-22 with total page 50 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X Syndrome: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Additional Research in a concise format. The editors have built Fragile X Syndrome: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Additional Research in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Fragile X Syndrome: New Insights for the Healthcare Professional: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Author : Joanne Erwick Roberts
Publisher : CLI
ISBN 13 :
Total Pages : 332 pages
Book Rating : 4.E/5 ( download)
Download or read book Speech & Language Development & Intervention in Down Syndrome & Fragile X Syndrome written by Joanne Erwick Roberts and published by CLI. This book was released on 2008 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by leading experts, this is the most up-to-date resource on speech and language assessment and intervention for professionals working with infants to adults with Down Syndrome and Fragile X Syndrome.
Author : V. Mark Durand
Publisher : Oxford University Press
ISBN 13 : 0195332997
Total Pages : 142 pages
Book Rating : 4.1/5 (953 download)
Download or read book Helping Parents with Challenging Children Positive Family Intervention Parent Workbook written by V. Mark Durand and published by Oxford University Press. This book was released on 2008-03-14 with total page 142 pages. Available in PDF, EPUB and Kindle. Book excerpt: Having a child with challenging behavior can be frustrating and affect the entire family. This workbook will help you take a more positive attitude toward your child and carry out effective steps to improve behavior. You will begin to feel more confident in your parenting skills and more optimistic about your child's future. The program outlined in this workbook will be tailored to your child's and family's needs and goals. It will teach you how to identify what sets off your child's problem behavior, as well as what your child gets or avoids from misbehaving. You will learn strategies to prevent problems, manage consequences, and teach your child new skills. With the help of your facilitator you will design a behavior support plan for your child. Finally, you will put the plan into effect and monitor the results. Throughout the program, you will be practicing how to think more positively, which can help you be a better parent. In addition to working with your facilitator in session, you will be completing homework assignments using the workbook. Each chapter provides the information and forms you need to assess your child's behavior, apply new strategies, and track your family's progress. As you support positive behavior step by step, you will be working towards improving the lives of your child and your family.
