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Therapies and Rehabilitation in Down Syndrome covers the entire lifespan of a DS patient, from infancy to 60 years and beyond, focusing not simply on identifying problems, but providing a detailed look at major therapeutic approaches. Discussion includes future genetic therapy, questions of quality of life, hormone and other therapies for medical problems, prevention and treatment of normal and pathological aging, as well as psychomotoric rehabilitation. This is an important book not only for scientists concerned with various facets of DS, but practitioners looking for guidelines for therapies and clinical application of research findings.
Providing a comprehensive survey of the clinical, educational, developmental, psychosocial, and transitional issues relevant to people with Down syndrome, this book addresses the needs of family members, caregivers, and professionals alike. Edited in association with the National Down Syndrome Society, this up-to-date treatment incorporates the newest developments concerning sexuality, inclusion, transition into adulthood, and legislation, as well as a discussion of the Human Genome Project and the sequencing of chromosome 21.
Down syndrome is one of the most commonly occurring developmental disorders and it is now possible to conceptualize and define opportunities for neurocognitive rehabilitation for those with the condition. This book describes how early cognitive intervention in children with Down syndrome can be carried out, and can reduce, or compensate for, the major deficits characteristic of the condition. This comprehensive account relates the neurocognitive approach to the major therapeutic endeavors in the neighboring fields of neurogenetics, experimental environmental enrichment, molecular genetics, pharmacology, pediatrics and cardiology for infants with Down syndrome. Neurocognitive Rehabilitation of Down Syndrome provides the guidance required to establish effective rehabilitation programs, and is essential reading for developmental clinicians, pediatricians, neuropsychologists and other health professionals.
Children with Down syndrome master gross motor skills -- everything from rolling over to running but need additional help and encouragement to maximise development. In this book the author, a physical therapist, shares her experience gained from sixteen years specialising in the motor development of children with Down Syndrome. This book provides parents and professionals with essential information about motor development including the impact of temperament and the effect of physical and medical conditions associated with Down syndrome.
A pediatric patient with Down Syndrome was seen for outpatient physical therapy treatment provided by a student for ten sessions from February to June 2014 at a university setting under the supervision of a licensed physical therapist. The patient was evaluated at the initial encounter with Peabody Developmental Motor Scale-2 and Gross Motor Function Measurement-88 and a plan of care was established. Main goals for the patient were to improve developmental motor functions through increasing functional strength, gait endurance and speed, improving balance, and independent ambulation of stairs. Main interventions used were task-specific, family-centered, and high-intensity approaches. The patient achieved the following goals of increased functional strength, gait endurance and speed, improved balance, and independent ambulation of stairs. The patient was discharged home to prior living arrangement with mother as primary caregiver.
In the ever-evolving landscape of medical science and holistic wellness, the quest to enhance the quality of life for individuals facing genetic conditions has led to innovative explorations of alternative therapies. "Advanced Treatment for Down Syndrome (Trisomy 21): Apometry, NLP, Regression, and Hypnosis" embarks on a journey into uncharted territories where conventional medicine meets complementary modalities, exploring the intersection of genetics, consciousness, and healing. This book delves into the delicate realm of Down syndrome, a genetic condition caused by an extra chromosome 21, challenging individuals and families to navigate a unique path of challenges and triumphs. Our exploration is driven by the genuine belief that knowledge is empowerment. We present an array of perspectives, ideas, and potential therapies that may complement traditional medical interventions. It's essential to emphasize that the intention behind this book is to foster an open-minded dialogue among various disciplines. We understand that genetic conditions like Down syndrome are complex and multifaceted, requiring a comprehensive approach that considers both the physical and emotional aspects of those affected. Throughout the chapters, we explore concepts such as Apometry, Neuro-Linguistic Programming (NLP), Regression, and Hypnosis, probing how these modalities might play a role in the broader spectrum of therapies. We acknowledge that these methods might not be universally embraced by the medical community, but we believe in their potential to enrich the lives of individuals with Down syndrome and their families. However, we firmly underscore that medical decisions should always be made in consultation with healthcare professionals. While we delve into alternative approaches, we do so with respect for the foundations of medical science and the need for rigorous research and ethical consideration. As you embark on this reading journey, we encourage you to approach each page with curiosity and an open heart. We invite you to engage critically and compassionately, absorbing the information while recognizing the complexity and nuances inherent in discussing genetic conditions and holistic wellness. We extend our gratitude to the experts, practitioners, and families who shared their insights and experiences, enriching the narrative and contributing to a more comprehensive understanding of the subjects explored within these pages. May this book serve as a bridge between the realms of genetics, alternative therapies, and conscious exploration, offering perspectives that inspire and empower those who seek a more holistic approach to Down syndrome and its challenges.
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
A patient with translocation Down Syndrome was seen for physical therapy treatment for ten sessions from 03/21/2014 - 05/23/2014 in an outpatient clinic under the supervision of a licensed physical therapist. The patient was evaluated at the initial encounter with Gross Motor Function Measure-88, Peabody Developmental Motor Scales II, Pediatric Evaluation of Disability Inventory, Functional Mobility Scale and 10 meter walk test and a plan of care was established. Main goals for the patient were independent ambulation and improvement in gross motor skills. Main interventions used were intensive, task-specific training and home exercise program. The patient achieved the following goals: improvements in gross motor function and improvements in functional ambulation. The patient was discharged to home with parents as primary caregivers.
Research on the multiple aspects of cognitive impairment in Down syndrome (DS), from genes to behavior to treatment, has made tremendous progress in the last decade. The study of congenital intellectual disabilities such as DS is challenging since they originate from the earliest stages of development and both the acquisition of cognitive skills and neurodegenerative pathologies are cumulative. Comorbidities such as cardiac malformations, sleep apnea, diabetes and dementia are frequent in the DS population, as well, and their increased risk provides a means of assessing early stages of these pathologies that is relevant to the general population. Notably, persons with DS will develop the histopathology of Alzheimer’s disease (formation of neuritic plaques and tangles) and are at high risk for dementia, something that cannot be predicted in the population at large. Identification of the gene encoding the amyloid precursor protein, its localization to chromosome 21 in the 90’s and realization that all persons with DS develop pathology identified this as an important piece of the amyloid cascade hypothesis in Alzheimer’s disease. Awareness of the potential role of people with DS in understanding progression and treatment as well as identification of genetic risk factors and also protective factors for AD is reawakening. For the first time since DS was recognized, major pharmaceutical companies have entered the search for ameliorative treatments, and phase II clinical trials to improve learning and memory are in progress. Enriched environment, brain stimulation and alternative therapies are being tested while clinical assessment is improving, thus increasing the chances of success for therapeutic interventions. Researchers and clinicians are actively pursuing the possibility of prenatal treatments for many conditions, an area with a huge potential impact for developmental disorders such as DS. Our goal here is to present an overview of recent advances with an emphasis on behavioral and cognitive deficits and how these issues change through life in DS. The relevance of comorbidities to the end phenotypes described and relevance of pharmacological targets and possible treatments will be considerations throughout.
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.