Genetic Testing For Developmental Disabilities Intellectual Disability And Autism Spectrum Disorder Technical Brief Number 23

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Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder - Technical Brief Number 23

Department Of Health And Human Services
Genetic Testing for Developmental Disabilities Intellectual Disability and Autism Spectrum Disorder Technical Brief Number 23 Book PDF

Author : Department Of Health And Human Services
Publisher : Unknown
Page : 0 pages
File Size : 55,7 Mb
Release : 2015-11-02
Category : Science
ISBN : 1329664965

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Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder - Technical Brief Number 23 by Department Of Health And Human Services Pdf

This Technical Brief collects and summarizes information on genetic tests clinically available in the United States to detect genetic markers that predispose to DDs. It also identifies, but does not systematically review, existing evidence addressing the tests' clinical utility. This Brief primarily focuses on patients with idiopathic or unexplained DDs, particularly intellectual disability, global developmental delay, and autism spectrum disorder. Several better-defined DD syndromes, including Angelman syndrome, fragile X syndrome, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Smith-Magenis syndrome, velocardiofacial syndrome, and Williams syndrome are also included. Patient-centered health outcomes (e.g., functional or symptomatic improvement) and intermediate outcomes (e.g., changes in clinical decisions or family reproductive decisions, the tests' diagnostic accuracy and analytic validity) are examined.

The SAGE Encyclopedia of Intellectual and Developmental Disorders

Ellen Braaten
The SAGE Encyclopedia of Intellectual and Developmental Disorders Book PDF

Author : Ellen Braaten
Publisher : SAGE Publications
Page : 3804 pages
File Size : 47,5 Mb
Release : 2018-01-29
Category : Psychology
ISBN : 9781506353302

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The SAGE Encyclopedia of Intellectual and Developmental Disorders by Ellen Braaten Pdf

According to the CDC "about one in six, or about 15%, of children aged 3 through 17 years have one or more developmental disabilities," such as ADHD, autism spectrum disorders, cerebral palsy, intellectual disability, and learning disability. Intellectual disorders are characterized by significant limitations in both intellectual functioning and in adaptive behavior, which covers many everyday social and practical skills, impacting learning, reasoning, problem solving, and other cognitive processes. These disabilities originate before the age of 18 and continue across the life span. Developmental disorders are chronic disabilities that can be cognitive or physical or both. The disabilities appear before the age of 22 and are likely to progress across the lifespan. Some developmental disorders are largely physical issues, such as cerebral palsy or epilepsy. Some individuals may have a disorder that includes a physical and intellectual disability; for example, Down syndrome or fetal alcohol syndrome. Intellectual and developmental disorders are significant and growing issues that are studied across a number of disciplines. The SAGE Encyclopedia of Intellectual and Developmental Disorders is aimed at students interested in psychology, counseling, education, social work, psychiatry, health sciences, and more. This encyclopedia will provide an in-depth look at a wide range of disorders, alongside interventions, the latest research translated for an undergraduate audience, historical context, and assessment tools for higher-level students. We will take a truly interdisciplinary approach by also covering sociocultural viewpoints, policy implications, educational applications, ethical issues, and more.

Handbook of Life Course Health Development

Neal Halfon,Christopher B. Forrest,Richard M. Lerner,Elaine M. Faustman
Handbook of Life Course Health Development Book PDF

Author : Neal Halfon,Christopher B. Forrest,Richard M. Lerner,Elaine M. Faustman
Publisher : Springer
Page : 667 pages
File Size : 54,7 Mb
Release : 2017-11-20
Category : Medical
ISBN : 9783319471433

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Handbook of Life Course Health Development by Neal Halfon,Christopher B. Forrest,Richard M. Lerner,Elaine M. Faustman Pdf

This book is open access under a CC BY 4.0 license. ​This handbook synthesizes and analyzes the growing knowledge base on life course health development (LCHD) from the prenatal period through emerging adulthood, with implications for clinical practice and public health. It presents LCHD as an innovative field with a sound theoretical framework for understanding wellness and disease from a lifespan perspective, replacing previous medical, biopsychosocial, and early genomic models of health. Interdisciplinary chapters discuss major health concerns (diabetes, obesity), important less-studied conditions (hearing, kidney health), and large-scale issues (nutrition, adversity) from a lifespan viewpoint. In addition, chapters address methodological approaches and challenges by analyzing existing measures, studies, and surveys. The book concludes with the editors’ research agenda that proposes priorities for future LCHD research and its application to health care practice and health policy. Topics featured in the Handbook include: The prenatal period and its effect on child obesity and metabolic outcomes. Pregnancy complications and their effect on women’s cardiovascular health. A multi-level approach for obesity prevention in children. Application of the LCHD framework to autism spectrum disorder. Socioeconomic disadvantage and its influence on health development across the lifespan. The importance of nutrition to optimal health development across the lifespan. The Handbook of Life Course Health Development is a must-have resource for researchers, clinicians/professionals, and graduate students in developmental psychology/science; maternal and child health; social work; health economics; educational policy and politics; and medical law as well as many interrelated subdisciplines in psychology, medicine, public health, mental health, education, social welfare, economics, sociology, and law.

A Time for Metabolism and Hormones

Paolo Sassone-Corsi,Yves Christen
A Time for Metabolism and Hormones Book PDF

Author : Paolo Sassone-Corsi,Yves Christen
Publisher : Springer
Page : 132 pages
File Size : 40,7 Mb
Release : 2016-04-04
Category : Medical
ISBN : 9783319270692

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A Time for Metabolism and Hormones by Paolo Sassone-Corsi,Yves Christen Pdf

Recent years have seen spectacular advances in the field of circadian biology. These have attracted the interest of researchers in many fields, including endocrinology, neurosciences, cancer, and behavior. By integrating a circadian view within the fields of endocrinology and metabolism, researchers will be able to reveal many, yet-unsuspected aspects of how organisms cope with changes in the environment and subsequent control of homeostasis. This field is opening new avenues in our understanding of metabolism and endocrinology. A panel of the most distinguished investigators in the field gathered together to discuss the present state and the future of the field. The editors trust that this volume will be of use to those colleagues who will be picking up the challenge to unravel how the circadian clock can be targeted for the future development of specific pharmacological strategies toward a number of pathologies.

The Identification of the Genetic Components of Autism Spectrum Disorders 2017

Merlin G. Butler
The Identification of the Genetic Components of Autism Spectrum Disorders 2017 Book PDF

Author : Merlin G. Butler
Publisher : MDPI
Page : 473 pages
File Size : 55,5 Mb
Release : 2018-06-27
Category : Electronic book
ISBN : 9783038425205

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The Identification of the Genetic Components of Autism Spectrum Disorders 2017 by Merlin G. Butler Pdf

This book is a printed edition of the Special Issue "The Identification of the Genetic Components of Autism Spectrum Disorders 2017" that was published in IJMS

New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics, An Issue of Pediatric Clinics of North America,

Gyula Acsadi
New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics An Issue of Pediatric Clinics of North America Book PDF

Author : Gyula Acsadi
Publisher : Elsevier Health Sciences
Page : 273 pages
File Size : 40,8 Mb
Release : 2015-06-25
Category : Medical
ISBN : 9780323389037

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New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics, An Issue of Pediatric Clinics of North America, by Gyula Acsadi Pdf

Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases. Genetic research uncovered many loss or gain of function mutations in genes that are associated with synaptic development and or remodeling. However, more an more data are accumulating regarding the importance in gene regulations in neurodevelopmental diseases. Thjis issue addresses many aspects of the genomics of neurodevelopmental diseases, including articles devoted to genomic variations of brain malformations; neuroimaging of brain development; update on autism evaluation and genetics; prader-willi and angelman syndromes; tuberous sclerosis complex; genetics of pediatric epilepsy; pediatric leukodystrophies; autoimmune encephalopathies; inherited neuropathies and motor neuron diseases; and muscular dystrophies and congenital myopathies.

Autism Spectrum Disorders

Andreas M. Grabrucker
Autism Spectrum Disorders Book PDF

Author : Andreas M. Grabrucker
Publisher : Unknown
Page : 117 pages
File Size : 44,5 Mb
Release : 2021
Category : Electronic
ISBN : OCLC:1280592589

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Autism Spectrum Disorders by Andreas M. Grabrucker Pdf

Autism spectrum disorders are developmental disorders. Individuals with autism spectrum disorders develop differently. These differences are usually present in social interaction, communication, and sensory processing, and become visible through a wide variety of behavioral responses that differ from individuals without autism spectrum disorders. Despite significant research efforts, the exact causes of autism spectrum disorders remain poorly understood; however, researchers have gained extensive insights into possible pathomechanisms, even at the molecular level of cells. Many diagnostic criteria have been developed, adapted, and improved. The eight chapters in this book highlight the current state-of-the-art in many areas of autism spectrum disorders. Chapter 1 provides an overview of the epidemiology of autism spectrum disorders and the current knowledge of the underlying pathogenic mechanisms. Chapter 2 summarizes the diagnostic criteria and procedures and highlights present and upcoming therapeutic strategies. Chapter 3 reviews the adverse events and trauma in people with autism spectrum disorders. Chapters 4 and 5 focus on atypical sensory processing, and Chapter 6 discusses the genetic overlap of autism spectrum disorders with other neuropsychiatric disorders such as attention deficit hyperactivity disorder (ADHD), depression, and schizophrenia. Chapter 7 focuses on the contribution of abnormalities in mitochondria, and chapter 8 discusses gut-brain interactions and a potential role for microbiota in autism spectrum disorders. This book is aimed primarily at clinicians and scientists, but many areas will also be of interest to the layperson.

Pediatric Skills for Occupational Therapy Assistants E-Book

Jean W. Solomon
Pediatric Skills for Occupational Therapy Assistants E Book Book PDF

Author : Jean W. Solomon
Publisher : Elsevier Health Sciences
Page : 682 pages
File Size : 43,6 Mb
Release : 2020-07-12
Category : Medical
ISBN : 9780323610261

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Pediatric Skills for Occupational Therapy Assistants E-Book by Jean W. Solomon Pdf

NEW! Every Moment Counts content is added to The Occupational Therapy Process chapter, promoting pediatric mental health. NEW! Coverage of educational expectations is added to the Educational System chapter. NEW! Coverage of "signature" constraint-induced movement therapy (CIMT) is added to Cerebral Palsy chapter. NEW photographs and illustrations are added throughout the book. NEW video clips on the Evolve companion website show the typical development of children/adolescents. NEW! Extensive assessment and abbreviations appendices are added to Evolve. NEW! Expanded glossary is added to Evolve.

Swaiman's Pediatric Neurology E-Book

Kenneth F. Swaiman,Stephen Ashwal,Donna M Ferriero,Nina F Schor,Richard S Finkel,Andrea L Gropman,Phillip L Pearl,Michael Shevell
Swaiman s Pediatric Neurology E Book Book PDF

Author : Kenneth F. Swaiman,Stephen Ashwal,Donna M Ferriero,Nina F Schor,Richard S Finkel,Andrea L Gropman,Phillip L Pearl,Michael Shevell
Publisher : Elsevier Health Sciences
Page : 2969 pages
File Size : 52,8 Mb
Release : 2017-09-21
Category : Medical
ISBN : 9780323374811

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Swaiman's Pediatric Neurology E-Book by Kenneth F. Swaiman,Stephen Ashwal,Donna M Ferriero,Nina F Schor,Richard S Finkel,Andrea L Gropman,Phillip L Pearl,Michael Shevell Pdf

Since 1975, Dr. Kenneth Swaiman’s classic text has been the reference of choice for authoritative guidance in pediatric neurology, and the 6th Edition continues this tradition of excellence with thorough revisions that bring you fully up to date with all that’s new in the field. Five new sections, 62 new chapters, 4 new editors, and a reconfigured format make this a comprehensive and clearly-written resource for the experienced clinician as well as the physician-in-training. Nearly 3,000 line drawings, photographs, tables, and boxes highlight the text, clarify key concepts, and make it easy to find information quickly. New content includes 12 new epilepsy chapters, 5 new cerebrovascular chapters, and 13 new neurooncology chapters, as well as new chapters on neuroimmunology and neuromuscular disorders, as well as chapters focused on clinical care (e.g., Counseling Families, Practice Guidelines, Transitional Care, Personalized Medicine, Special Educational Law, Outcome Measurements, Neurorehabilitation, Impact of Computer Resources, and Training Issues). Additional new chapters cover topics related to the developmental connectome, stem cell transplantation, and cellular and animal models of neurological disease. Greatly expanded sections to increase your knowledge of perinatal acquired and congenital disorders, neurodevelopmental disabilities, pediatric epilepsy, and nonepileptiform paroxysmal disorders and disorders of sleep. Coverage of new, emerging, or controversial topics includes developmental encephalopathies, non-verbal learning disorders, and the pharmacological and future genetic treatment of neurodevelopmental disabilities.

Nelson Pediatric Symptom-Based Diagnosis

Robert M. Kliegman,Heather Toth,Brett J. Bordini,Donald Basel
Nelson Pediatric Symptom Based Diagnosis Book PDF

Author : Robert M. Kliegman,Heather Toth,Brett J. Bordini,Donald Basel
Publisher : Elsevier Health Sciences
Page : 1355 pages
File Size : 45,7 Mb
Release : 2022-01-10
Category : Medical
ISBN : 9780323761758

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Nelson Pediatric Symptom-Based Diagnosis by Robert M. Kliegman,Heather Toth,Brett J. Bordini,Donald Basel Pdf

Patients don’t present with a disease; they present with symptoms. Using a practical, symptom-based organization, Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics, 2nd Edition, offers authoritative guidance on differential diagnosis and treatment of diseases and disorders in children and adolescents, and covers the symptoms you’re likely to see in practice, their mimics, and uncommon disorders. Drs. Robert M. Kliegman, Heather Toth, Brett J. Bordini, and Donald Basel walk you through what to consider and how to proceed when faced with common symptoms such as cough, fever, headache, autistic-like behaviors, chronic pain, chest pain, gait disturbances, and much more. Begins with a presenting symptom and leads you through differential diagnosis and a concise review of treatment recommendations. Contains more than a dozen new topics including Disease Mimics: An Approach to Undiagnosed Diseases, Autistic-like Behaviors, Shock, Hypertension, Neurocognitive and Developmental Regression, Chronic Pain, Hypertonicity, Movement Disorders, Hypermobility, and more. Features a new focus on symptoms of rarer diseases that are mimics of more common diseases. Offers a user-friendly approach to Altered Mental Status such as coma and other CNS disorders, with numerous clinically useful tables and figures to guide clinical decision making in various care settings. Uses a highly templated format for easy reference and quick answers to clinical questions, with the same consistent presentation in each chapter: History, Physical Examination, Diagnosis (including laboratory tests), Imaging, Diagnosis, and Treatment. Includes numerous full-color illustrations, algorithms, tables, and "red flags" to aid differential diagnosis. Serves as an ideal companion to Nelson Textbook of Pediatrics, 21st Edition. Content in this book is referenced and linked electronically to the larger text, providing easy access to full background and evidence-based treatment and management content when you own both references.

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Carlo Sala,Chiara Verpelli
Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability Book PDF

Author : Carlo Sala,Chiara Verpelli
Publisher : Academic Press
Page : 394 pages
File Size : 43,9 Mb
Release : 2016-04-30
Category : Medical
ISBN : 9780128005330

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Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability by Carlo Sala,Chiara Verpelli Pdf

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

Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management

M. Mohamed Essa,M. Walid Qoronfleh
Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management Book PDF

Author : M. Mohamed Essa,M. Walid Qoronfleh
Publisher : Springer Nature
Page : 700 pages
File Size : 53,8 Mb
Release : 2020-01-31
Category : Medical
ISBN : 9783030304027

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Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management by M. Mohamed Essa,M. Walid Qoronfleh Pdf

The book focuses on implications of traditional and processed foods for autism spectrum disorder (ASD) intervention and management. Numerous phytonutrients and pharmacologically active compounds in edible natural products and diet could influence and offer protection to neuronal dysfunction that occurs due to ASD. The neuroprotective effects of various fruits, vegetables, nuts and seeds phytochemicals, and other natural bioactive ingredients against ASD and related conditions are discussed. Topics such as the possible neuroprotective mechanism of action of these foods and the therapeutic role of antioxidants in relation to ASD are addressed. This book also highlights the scope of using anti-inflammatory agents and antioxidants to promote neurogenesis and improve other symptoms in ASD. It emphasizes personalized nutritional approaches with dietary management of neurodevelopmental disorders/ASD cases. Information in this book is relevant to researchers in the field of complementary and alternative medicine, nutraceuticals, neuroscience, agriculture, nutrition, and food science. This volume is beneficial to students of varying levels, and across multiple disciplines.

Understanding Intellectual Disability

Margherita Orsolini,Ciro Ruggerini
Understanding Intellectual Disability Book PDF

Author : Margherita Orsolini,Ciro Ruggerini
Publisher : Taylor & Francis
Page : 203 pages
File Size : 52,7 Mb
Release : 2022-12-26
Category : Education
ISBN : 9781000780536

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Understanding Intellectual Disability by Margherita Orsolini,Ciro Ruggerini Pdf

Understanding Intellectual Disability: A Guide for Professionals and Parents supports professionals and parents in understanding critical concepts, correct assessment procedures, delicate and science-infused communication practices and treatment methods concerning children with intellectual disabilities. From a professional perspective, this book relies on developmental neuropsychology and psychiatry to describe relevant measures and qualitative observations when making a diagnosis and explores the importance of involving parents in the reconstruction of a child’s developmental history. From a parent’s perspective, the book shows how enriched environments can empower children’s learning processes, and how working with patients, families, and organizations providing care and treatment services can be effectively integrated with attachment theory. Throughout seven chapters, the book offers an exploration of diagnostic procedures, new insights on the concept of intelligence and the role of communication and secure attachment in the mind’s construction. With expertise from noteworthy scholars in the field, the reader is given an overview of in-depth assessment and intervention practices illustrated by several case studies and examples, as well as a lifespan perspective from a Human Rights Model of disability. Understanding Intellectual Disability is an accessible guide offering an up-to-date vision of intellectual disability and is essential for psychologists, health care professionals, special educators, students in clinical psychology, and parents. Things are connected through invisible bonds: you cannot pluck a flower without unsettling a star. Galileo Galilei

Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders

Shirley W. Ekvall,Shirley Ekvall,Valli K. Ekvall
Pediatric and Adult Nutrition in Chronic Diseases Developmental Disabilities and Hereditary Metabolic Disorders Book PDF

Author : Shirley W. Ekvall,Shirley Ekvall,Valli K. Ekvall
Publisher : Oxford University Press
Page : 585 pages
File Size : 42,7 Mb
Release : 2017
Category : Medical
ISBN : 9780199398911

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Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders by Shirley W. Ekvall,Shirley Ekvall,Valli K. Ekvall Pdf

Preceded by Pediatric nutrition in chronic diseases and developmental disorders / edited by Shirley W. Ekvall, Valli K. Ekvall. 2005.

Navigating the Medical Maze with a Child with Autism Spectrum Disorder

Sue Ming,Beth Pletcher
Navigating the Medical Maze with a Child with Autism Spectrum Disorder Book PDF

Author : Sue Ming,Beth Pletcher
Publisher : Jessica Kingsley Publishers
Page : 320 pages
File Size : 48,5 Mb
Release : 2014-08-21
Category : Family & Relationships
ISBN : 9780857008602

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Navigating the Medical Maze with a Child with Autism Spectrum Disorder by Sue Ming,Beth Pletcher Pdf

This comprehensive guide enables parents of children with an autism spectrum disorder (ASD) to play an active and effective role in their child's medical care from diagnosis to early adulthood. With a focus on working with health care providers to ensure the best treatment for your child's unique needs, it includes: - a description of the developmental and medical conditions faced by children with ASDs in lay terms - an explanation of common diagnostic tests - a presentation of conventional and alternative therapies and how they work - tips for managing day-to-day medical or behavioral problems - advice for parents considering enrolling their child in a research project - and all the latest medical information. This authoritative and accessible book provides parents of children with an ASD with the foundation of knowledge they need to become an active partner in the medical care of their child and the map that will allow them to navigate the complex medical world.