This fully updated and expanded second edition of a successful book reviews the most important neuropsychological measures currently used in the assessment of dementia by the principal clinicians and researchers associated with the tests. Several clinicians and research workers, who have been at the forefront in developing the tests in question, provide clear practical guidance on the scope of each test, use in research, as well as an analysis of their accuracy and limitations. The international contributors have brought together a concise and practical guide on the role of neuropsychological testing to support the dementia assessment. Neuropsychological Assessments of Dementia in Down Syndrome and Intellectual Disabilities, Second Edition is an essential reference for all those working in the field of dementia and intellectual disabilities. Vee Prasher is a NHS Consultant in Intellectual Disabilities and visiting Professor of Neuropsychiatry. He qualified in 1985 from the University of Birmingham UK as a Medical Doctor. He initially did neurosurgery training, later general psychiatry, and finally specialised in the field of intellectual disability. He has been actively involved in research in intellectual disability, having published over 100 articles relating to people with intellectual disability. He has completed 3 post doctorate degrees in this field, MMedSc, MD, and PhD. As an editor or author he has published 10 textbooks. He has a recognised international reputation and has been involved in a number of international studies and reports highlighting health issues for persons with intellectual disability.
In this issue:´´10 Breakthrough Technologies of 2015: Where Are They Now?´´ by Tom Simonite. ´´5 Robot Trends to Watch for in 2016´´ by Will Knight. ´´What Will It Take to Build a Virtuous AI?´´ by Will Knight. ´´What Robots and AI Learned in 2015´´ by Will Knight. ´´The 6 Most Important Things That Happened in Virtual Reality in 2015´´ by Rachel Metz. ´´Human-Animal Chimeras Are Gestating on U.S. Research Farms´´ by Antonio Regalado. ´´Parents Turn to Prozac to Treat Down Syndrome´´ by Bonnie Rochman. ´´2015 in Biomedicine: Baby Engineering, Spray-On GMOs, and Cancer Cures´´ by Antonio Regalado. ´´Illumina´s Bid to Beat Cancer with DNA Tests´´ by Antonio Regalado. ´´Here´s What We Learned About Concussion Detection in 2015 (And What We Still Don’t Know)´´ by Mike Orcutt. ´´Our Energy Transformation in 2015´´ by Richard Martin. ´´The Dubious Promise of Bioenergy Plus Carbon Capture´´ by Richard Martin. 1. Language: English. Narrator: Todd Mundt. Audio sample: http://samples.audible.de/pe/trev/160201de/bk_rhde_002536_sample.mp3. Digital audiobook in aax.
This book presents the state of the art of type 2 diabetes genetics, from the process of genetic discovery to its interpretation and clinical application, and illustrates a model for other complex human phenotypes. The first section explores genome-wide association studies, the extension of this method to less accessible phenotypes and the arrival of next-generation sequencing. A further section goes beyond genetics to illustrate how other data sources can help interpret genetic data, such as leveraging population diversity, the correlation of genetic associations with physiological measurements, gene expression modulation, environmental factors and our microbial commensals. The third section describes advances in elucidating the complex path from association to function using in-depth sequencing and functional studies of the cellular and molecular effects of genes in the loci identified by genetics. The final section links our current understanding with clinically relevant questions, such as prediction, interactions with drugs or nutrients, and disease prevention, and paints a realistic but hopeful vision of the future. ? Jose C. Florez, M.D., Ph.D. is an Assistant in Medicine (Endocrine Division) at the Massachusetts General Hospital, an Associate Professor at Harvard Medical School and an Associate Member at the Broad Institute, where he is active in the Program in Medical and Population Genetics and the Broad Metabolism Initiative. He and his group have contributed to the performance and analysis of genome-wide association studies in type 2 diabetes and related traits, in the Diabetes Genetics Initiative (formed by the Broad Institute, Lund University and Novartis), the Framingham Heart Study, and other international consortia such as MAGIC, GENIE and DIAGRAM, involving collaborators within CHGR and the Broad Institute. He is an author on 70+ original publications and 30+ reviews/book chapters. In addition to his research and teaching duties, he directs the MGH Down Syndrome Clinic for Adults and Adolescents, and is clinically active in the MGH Diabetes Center and in the Endocrine inpatient consult service. He serves on the Editorial Board for Diabetes and the Advisory Board for Diabetologia, and is the Editor-in-Chief for Current Diabetes Reports. He is the recipient of the MGH Physician Scientist Development Award, a Doris Duke Charitable Foundation Clinical Scientist Development Award, the MGH Department of Medicine Stephen Krane Award, and the 2010 Presidential Early Career Award for Scientists and Engineers, the highest honor bestowed by the United States government on science and engineering professionals in the early stages of their independent research careers.
The study of the brain continues to expand at a rapid pace providing fascinating insights into the basic mechanisms underlying nervous system illnesses. New tools, ranging from genome sequencing to non-invasive imaging, and research fueled by public and private investment in biomedical research has been transformative in our understanding of nervous system diseases and has led to an explosion of published primary research articles. Diseases of the Nervous System summarizes the current state of basic and clinical knowledge for the most common neurological and neuropsychiatric conditions. In a systematic progression, each chapter covers either a single disease or a group of related disorders ranging from static insults to primary and secondary progressive neurodegenerative diseases, neurodevelopmental illnesses, illnesses resulting from nervous system infection and neuropsychiatric conditions. Chapters follow a common format and are stand-alone units, each covering disease history, clinical presentation, disease mechanisms and treatment protocols. Dr. Sontheimer also includes two chapters which discuss common concepts shared among the disorders and how new findings are being translated from the bench to the bedside. In a final chapter, he explains the most commonly used neuroscience jargon. The chapters address controversial issues in current day neuroscience research including translational research, drug discovery, ethical issues, and the promises of personalized medicine. This book provides an introduction for course adoption and an introductory tutorial for students, scholars, researchers and medical professionals interested in learning the state of the art concerning our understanding and treatment of diseases of the nervous system. Provides a focused tutorial introduction to the core diseases of the nervous system Includes comprehensive introductions to Stroke, Epilepsy, Alzheimers Disease, Parkinsons Disease, Huntingtons Disease, ALS, Head and Spinal Cord Trauma, Multiple Sclerosis, Brain Tumors, Depression, Schizophrenia and many other diseases of the nervous system Covers more than 40 diseases from the foundational science to the best treatment protocols Includes discussions of translational research, drug discovery, personalized medicine, ethics, and neuroscience Dr. Sontheimer is a researcher and educator with a life-long interest in Neuroscience. A native of Germany, he obtained a Masters degree in evolutionary comparative Neuroscience, where he worked on the development of occulomotor reflexes. In 1989, he obtained a doctorate in Biophysics and Cellular & Molecular Neuroscience form the University of Heidelberg studying biophysical changes that accompany the development of oligodendrocytes, the principle myelinating cells of the nervous system. He moved to the United States, where he later became a citizen, for post-doctoral studies at Yale University. His independent research career began at Yale in 1991 and continued at the University of Alabama Birmingham in 1994 and been focused on the role of glial support cells in health and disease. His laboratory has made major discoveries that led to two clinical trials using novel compounds to treat malignant gliomas. His research led to over 160 peer-reviewed publications. For the clinical development of his discoveries, Dr. Sontheimer started a biotechnologies company, Transmolecular Inc., which conducted both phase I and II clinical trials with the anti-cancer agent chlorotoxin. This technology was recently acquired by Morphotec Pharmaceuticals who will be conducting the phase III clinical trials. As educator, Dr. Sontheimer has been active in teaching Medical Neuroscience, graduate Cellular and Molecular Neuroscience, and, for the past 10 years, he has offered both graduate and undergraduate courses on Diseases of the Nervous System. In 2005, Dr. Sontheimer became director of the Civitan International Research Center, a philanthropically supported center devoted to the study and treatment of children with developmental disabilities, ranging from Downs syndrome to Autism. In this capacity, Dr. Sontheimer is frequently tasked explaining complex scientific processes to a lay audience. Recognizing the need to further educate the public about neurological disorders using language that is accessible to an educated public motivated Dr. Sontheimer to write a text book on Diseases of the Nervous system. To assure that the material is comprehensive yet readily
This second edition of a successful book provides updated clinical and research knowledge, including information on the licensing of new antiepileptic drugs. All chapters are updated to reflect present accepted practice. New chapters highlighting the importance of the genetic aspects of epilepsy, nonpharmacological treatments, and the impact of epilepsy on families and carers have been added. Ongoing developments in the general population, which will more likely than not become relevant to the intellectually disabled population, are discussed. The impact of epilepsy on the person themselves and their carers is acknowledged, and person-centred treatment programs with a multifaceted team approach are proposed. This book is aimed at physicians and residents in neurology and pediatrics, as well as other practitioners working with this population, such as neuropsychologists. Epilepsy and Intellectual Disabilities, Second Edition is recommended reading for all those caring for this important group of individuals. Vee Prasher is a NHS Consultant in Intellectual Disabilities and visiting Professor of Neuropsychiatry. He qualified in 1985 from the University of Birmingham UK as a Medical Doctor. He initially did neurosurgery training, later general psychiatry, and finally specialised in the field of intellectual disability. He has been actively involved in research in intellectual disability, having published over 100 articles relating to people with intellectual disability. He has completed 3 post doctorate degrees in this field, MMedSc, MD, and PhD. As an editor or author he has published 10 textbooks. He has a recognised international reputation and has been involved in a number of international studies and reports highlighting health issues for persons with intellectual disability. Professor Mike Kerr studied medicine in Bristol (UK), General Practice in York and Psychiatry in Cardiff. He came to Wales in 1990. His clinical practice is in the epilepsies associated with learning disability and in the assessment and treatment of epilepsy and psychiatric disorder. He has been closely associated with initiatives in improving the public health of people with an intellectual disability including developing the Cardiff Health Check, which is used across England and Wales. Academically he has published widely on healthcare, epilepsy and intellectual disability and held research grants from many funding bodies. He is chair of the Advisory Board for Wales of Epilepsy Action, a trustee of Epilepsy Research UK and SUDEP ACTION. He is a medical advisor for the Rett Society, The Down Syndrome Association and SUDEP ACTION. He is a member of the International League Against Epilepsy (ILAE) commission on neuropsychiatric aspects of epilepsy and an editor of the Cochrane collaboration epilepsy group. He has been appointed as a clinical Champion for Wales. He has also been appointed as an Ambassador for Epilepsy by the ILAE and International Bureau for Epilepsy.
The book describes the experience of Rafael Calderón-Almendros (the first person with Down syndrome to obtain a professional music degree in Spain) and his family. A confrontation arose with his school at the end of his compulsory secondary education stage. After Rafael had been a student in the centre from the start of his education, the institution lost its vision and denied the student his rights. The school used concealed segregation strategies, legitimized by the institution and its professionals, which were almost insurmountable. However, Rafaels family embarked on a process of Action Research, began to fight for the recognition of the right for all students to obtain a formal education. This research shows how critical analyses were born from the experiences of a representative of one of the most disadvantaged groups (disabled people), which have been rigorously recorded and evidenced. From an inclusive, engaged and radical perspective, the text presents a solid case of someone outside the able-dominated average completing his education to a high professional standard. His success is endorsed by subsequent events: Rafael passed his compulsory secondary education, the equivalent of the English Baccalaureate and his Elementary and Professional Grades of Music (ten years). He obtained the Gold Medal of Merit in Education of Andalusia and the World Down Syndrome Day Award. He was admitted to the prestigious Academy of Orchestral Studies Barenboim-Said. Rafael has nothing else to prove. Today, his example challenges many of the usual school practices and urges us to rethink the commitment of educators in stimulating the participation of the entire school community, in promoting student autonomy and the recognition of others in their human and social rights. English translation provided by Baker & McKenzie Barcelona, S.L.P. (http://www.bakermckenzie.com/Spain/Barcelona/) and Julian Thomas (www.textos-academicos.com).
From the National Book Award–winning author of The Noonday Demon: An Atlas of Depression comes a monumental new work, a decade in the writing, about family. In Far from the Tree, Andrew Solomon tells the stories of parents who not only learn to deal with their exceptional children but also find profound meaning in doing so. Solomon’s startling proposition is that diversity is what unites us all. He writes about families coping with deafness, dwarfism, Down syndrome, autism, schizophrenia, multiple severe disabilities, with children who are prodigies, who are conceived in rape, who become criminals, who are transgender. While each of these characteristics is potentially isolating, the experience of difference within families is universal, as are the triumphs of love Solomon documents in every chapter. All parenting turns on a crucial question: to what extent parents should accept their children for who they are, and to what extent they should help them become their best selves. Drawing on forty thousand pages of interview transcripts with more than three hundred families, Solomon mines the eloquence of ordinary people facing extreme challenges. Whether considering prenatal screening for genetic disorders, cochlear implants for the deaf, or gender reassignment surgery for transgender people, Solomon narrates a universal struggle toward compassion. Many families grow closer through caring for a challenging child; most discover supportive communities of others similarly affected; some are inspired to become advocates and activists, celebrating the very conditions they once feared. Woven into their courageous and affirming stories is Solomon’s journey to accepting his own identity, which culminated in his midlife decision, influenced by this research, to become a parent. Elegantly reported by a spectacularly original thinker, Far from the Tree explores themes of generosity, acceptance, and tolerance—al... 1. Language: English. Narrator: Andrew Solomon. Audio sample: http://samples.audible.de/bk/adbl/021360de/bk_rhde_002536_sample.mp3. Digital audiobook in aax.