Download or read book Understanding Rett Syndrome written by Rosa Angela Fabio and published by Routledge. This book was released on 2019-08-23 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: Understanding Rett Syndrome offers a concise, evidence-based introduction to Rett Syndrome (RTT), covering a range of topics from diagnosis and causes to treatment and family management. It focuses on improving the quality of life for those with the syndrome by suggesting practical ways of managing the condition at home and at school, offering support and guidance to all parents and caregivers learning how to help children with RTT. Over the course of six chapters, Fabio, Caprì and, Martino explore signs and symptoms of RTT, along with an overview of treatment, therapy, and interventions for those living with the condition, focusing on technological aids such as eye-tracking and ICT and new neural techniques. Illustrated with interviews with parents of children living with RTT, Understanding Rett Syndrome is essential reading for parents and caregivers, as well as practitioners in clinical and educational psychology, counseling, mental health, nursing, child welfare, public healthcare, and those in education.
Download or read book Understanding Rett Syndrome written by Barbro Lindberg and published by Hogrefe Publishing. This book was released on 2006 with total page 218 pages. Available in PDF, EPUB and Kindle. Book excerpt: Barbro Lindberg describes the difficulties and challenges of girls and women with Rett Syndrome and proposes solutions that can help them in everyday life.
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability written by Carlo Sala and published by Academic Press. This book was released on 2016-04-30 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. - Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities - Describes the genes implicated in autistic spectrum disorders and their function - Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies - Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture
Download or read book Guide to Rett Syndrome Care written by Kennedy Albert and published by Independently Published. This book was released on 2023-11-08 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rett syndrome is an uncommon and severe neurological disorder affecting predominantly females. It is a genetic disorder that typically manifests in early infancy, between 6 and 18 months. After a period of ostensibly normal development during infancy, Rett syndrome is characterized by a regression of acquired skills, including motor skills and communication abilities. Here are some important characteristics and features of Rett syndrome: - One of the defining characteristics of Rett syndrome is the loss of previously acquired skills. Frequently, children with Rett syndrome begin to demonstrate indicators of developmental regression, such as the loss of purposeful hand skills, speech, and social engagement. - Hand-wringing and repetitive movements: People with Rett syndrome frequently engage in repetitive hand movements such as hand-wringing, clapping, and striking. These movements can be a conspicuous characteristic of the disorder. - Loss of motor control: Affected individuals may experience a loss of motor control and coordination, resulting in difficulties with activities such as walking and maintaining their equilibrium. - Numerous individuals with Rett syndrome develop abnormal respiratory patterns, such as hyperventilation, breath-holding, and apnea (brief pauses in breathing). - Individuals with Rett syndrome may struggle with social interaction, communication, and relationship formation. They frequently have difficulty making eye contact and display autistic-like behaviors. - Seizures: Seizures are prevalent in Rett syndrome and can differ in frequency and severity among those affected. - Growth and development issues: Individuals with Rett syndrome may experience growth issues, including delayed growth and head growth. - Rett syndrome is typically caused by mutations in the MECP2 gene on the X chromosome. As it predominately affects females, this disorder is X-linked. In rare instances, other gene mutations can also cause Rett-like symptoms. Rett syndrome is a condition that lasts a lifetime and requires continuous medical and therapeutic treatment. There is currently no cure for Rett syndrome; however, various therapies and interventions, such as physical therapy, occupational therapy, and speech therapy, can help manage symptoms and enhance the quality of life for those affected. Early diagnosis and intervention are essential for optimizing outcomes and supporting affected individuals and their families.
Download or read book The Rett Syndrome Handbook written by Kathy Hunter and published by . This book was released on 2007-01-01 with total page 577 pages. Available in PDF, EPUB and Kindle. Book excerpt: Everything you ever wanted to know about Rett Syndrome and more from the best experts.
Download or read book Rett Syndrome written by Rumi Michael Leigh and published by Rumi Michael Leigh. This book was released on 2022-10-11 with total page 10 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will explain the causes of Rett syndrome, symptoms, and treatment. It will make you discover Rett syndrome in its entirety. All in the form of questions and answers to facilitate understanding of the subject.
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Download or read book Pathways to Learning in Rett Syndrome written by Debbie Wilson and published by Routledge. This book was released on 2013-10-23 with total page 123 pages. Available in PDF, EPUB and Kindle. Book excerpt: First Published in 1998. Parents and teachers of girls with Rett Syndrome will welcome this book which offers accessible advice on the special educational needs of these girls. It will assist teachers in developing a working knowledge of the syndrome and suggests particular strategies in planning a curriculum which may overcome the specific difficulties within the diagnosis.
Download or read book RETT SYNDROME Genetic Disorder written by Emily Smith and published by Independently Published. This book was released on 2022-08-22 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rett Syndrome is a neurodevelopmental problem that is delegated a chemical imbalance range jumble. Clinically, Rett Syndrome is portrayed by psychomotor relapse with loss of volitional hand use and communicated in language, the improvement of monotonous hand stereotypies, and stride debilitation. Most of individuals with Rett Syndrome transformations in Methyl-CpG-restricting Protein 2 (MECP2), a transcriptional controller. Curiously, modifications in the capability of the protein item delivered by MECP2, MeCP2, have been distinguished in various other clinical circumstances. The numerous clinical Diagnosis found in Rett Syndrome and the different clinical issues that outcome from modification in MeCP2 capability have prompted the conviction that understanding Rett Syndrome will give knowledge into various other neurodevelopmental disorders.Excitingly, Rett Syndrome is reversible in a mouse model, giving motivation and trust that such an objective might be accomplished for Rett Syndrome and possibly for the overwhelming majority neurodevelopmental messes.
Download or read book Pediatric Neurology Part I written by Olivier Dulac and published by Newnes. This book was released on 2013-04-24 with total page 893 pages. Available in PDF, EPUB and Kindle. Book excerpt: The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. - A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology - International list of contributors including the leading workers in the field - Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care
Download or read book Epigenetics in Psychiatry written by Jacob Peedicayil and published by Academic Press. This book was released on 2021-08-21 with total page 848 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. - Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease - Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins - Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery - Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) - Features chapter contributions from international leaders in the field
Download or read book Rett Disorder and the Developing Brain written by Alison Kerr and published by . This book was released on 2001 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rett disorder, first described by Andreas Rett in 1966, is a condition which involves the functions on which intelligence and expression depend. It is probably the most common genetic disorder encountered in profoundly intellectually disabled females. Its many manifestations include epilepsy, scoliosis, nutritional difficulties, and disorders of mood and movement. This book provides an up-to-date account of current research into the disorder at a time when the causative mutations have just been discovered on the MeCP2 gene. The first section of the book presents the clinical signs and the latest research into the genetic, neuro- anatomical and neuro-chemical aspects of Rett disorder. The second section moves on to deal with the neuro-physiological research, concentrating on the autonomic system, which is deeply implicated in the disease mechanisms. The final section of the book examines the behavioural and psychological features of Rett disorder and discusses issues relating to communication. The chapters are written by a distinguished, international team of experts, all currently active in research. The contributions bring our understanding of the Rett disorder right up-to-date, as the study of the condition moves from an era of description into a time when there are real possibilities for beneficial interventions.
Download or read book The Rett Syndrome Handbook written by Kathy Hunter and published by . This book was released on 1999 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Contents: initial questions; adjustment to Rettland; family issues; care for caregivers; sensory development; behaviors; hand function; seizures; nervous system; daily care; motor problems; orthopaedics; treatment approaches; firends and fun; education and learning; communication; nutrition; genetics; adults issues; and where to get help.
Download or read book Rett Syndrome RTT written by Fabrizio Stasolla and published by Nova Science Publishers. This book was released on 2021 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Rett syndrome, a rare genetic disease caused by mutations of the MECP2 gene, includes severe to profound developmental impairments. Communicative, intellectual, and motor disabilities are usually embedded. Children with Rett syndrome are individuals with multiple difficulties. Caregivers, families and professionals face to serious daily challenges due to clinical conditions determined by Rett syndrome. Accordingly, traditional interventions may not be adequate. Customized programs based on cognitive-behavioral approaches and assistive technology setups are highly warranted. The current book includes the newest empirical contributions to tackle functional consequences of Rett syndrome. Sleep and pain disorders were targeted in Chapter One. A cross-disciplinary investigation to enhance active participation and constructive engagement of children with Rett syndrome was detailed in Chapter Two. The importance of functional activities was emphasized in Chapter Three. Communication guidelines to support communication skills of individuals with Rett syndrome were critically discussed in Chapter Four. The relevance of music and music therapy to promote positive participation was argued in Chapter Five. A selective review on the use of assistive technology-based programs in individuals with Rett syndrome was provided in Chapter Six. A case report to help locomotion fluency of an adolescent with Rett syndrome through the use of microswitches and contingent positive stimulation was presented in Chapter Seven. The book was supported by illustrative examples described by the chapters' contributors and their professional experience. Readers may find helpful insights within each edited chapter. Caregivers, families, and professionals may have a practical guide to everyday settings and environments or contexts. Clarity and readability for a large audience are undoubtedly strengths and advantages of the current volume. Although technical terminology was used throughout, both future research and practice can widely find meaningful tips and tangible suggestions to tackle daily barriers and/or obstacles in individuals with Rett syndrome and severe to profound developmental delays"--
Download or read book Rett Syndrome written by and published by . This book was released on 2003 with total page 16 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Neuroepigenomics in Aging and Disease written by Raul Delgado-Morales and published by Springer. This book was released on 2017-05-18 with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetic mechanisms (DNA modifications, histone alterations and non-coding RNAs) are crucial for transcriptional regulation and alterations of the “physiological epigenome” are increasingly associated with human diseases. During the last decade the emerging field of neuroepigenomics have started to impact tremendously in areas such learning and memory, addiction or neurodegeneration. This expert volume covers the role of epigenetic molecular mechanism in regulation of central nervous system’s function, one of the most exciting areas of contemporary molecular neuroscience. The book describes the current knowledge on the epigenetic basis of human disease covering the complete lifespan: from neurodevelopment/childhood (Rett Syndrome, Rubinstein-Taybi, autism), adolescence (eating disorders, drug addiction, anxiety), adulthood (depression, schizophrenia, amyotrophic lateral sclerosis, Huntington’s disease) and elderly (Alzheimer’s disease, Parkinson’s disease). The book also covers the three major players on neuroepigenomic mechanisms: histones alterations, DNA modifications and non-coding RNAs, their roles at the molecular and cellular level and the impact of their alterations on neuronal function and behavior. Finally, a special chapter on state-of-the-art technologies helps the reader not only to understand epigenetic driven changes in human cognition and diseases but also the methodology that will help to generate paradigm shifts on our understanding of brain function and the role of the neuroepigenome in human diseases.
