Angelman Syndrome: Communication, Educational and Related Considerations

Angelman Syndrome: Communication, Educational and Related Considerations PDF Author: Stephen N. Calculator
Publisher: Bentham Science Publishers
ISBN: 1681081164
Category : Education
Languages : en
Pages : 366

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Book Description
Individuals with Angelman Syndrome (AS) present many unique challenges to professionals, parents and others who are committed to maximizing individuals’ competence while ensuring them the best possible quality of life. Angelman Syndrome: Communication, Educational, and Related Considerations is a unique, exhaustive compilation of existing material related to understanding the nature of AS and how individuals’ communication and related skills can be fostered most effectively. It provides readers with a comprehensive understanding of the background of Angelman Syndrome along with an in-depth exploration of communication (with a focus on augmentative and alternative communication), educational, and related issues that should be addressed when attempting to meet the needs of individuals with AS at home, school, work, and elsewhere in the community. Key features of the book include: • Extensive background information about medical and related factors behind AS and how they influence individuals’ learning • A series of prologues written by the parents of individuals with AS • Contributions from internationally recognized experts on AS, communication disorders, psychology and education • Numerous practical, evidence-based strategies for conducting assessments and carrying out interventions among AS affected individuals Speech-language pathologists, allied healthcare providers and educators providing support to affected individuals should benefit from the information provided in the book by being able to identify appropriate communication, behavioral and educational goals. Laypersons, particularly parents, will also find the information highly useful in advocating for best practices for their children (which is partly fostered by the series of parental prologues). Angelman Syndrome: Communication, Educational, and Related Considerations will not only serve as a valuable reference for improving the learning experience for AS affected individuals but will also embolden both professionals and parents to maintain higher expectations for them.

Angelman Syndrome: Communication, Educational and Related Considerations

Angelman Syndrome: Communication, Educational and Related Considerations PDF Author: Stephen N. Calculator
Publisher: Bentham Science Publishers
ISBN: 1681081164
Category : Education
Languages : en
Pages : 366

Get Book Here

Book Description
Individuals with Angelman Syndrome (AS) present many unique challenges to professionals, parents and others who are committed to maximizing individuals’ competence while ensuring them the best possible quality of life. Angelman Syndrome: Communication, Educational, and Related Considerations is a unique, exhaustive compilation of existing material related to understanding the nature of AS and how individuals’ communication and related skills can be fostered most effectively. It provides readers with a comprehensive understanding of the background of Angelman Syndrome along with an in-depth exploration of communication (with a focus on augmentative and alternative communication), educational, and related issues that should be addressed when attempting to meet the needs of individuals with AS at home, school, work, and elsewhere in the community. Key features of the book include: • Extensive background information about medical and related factors behind AS and how they influence individuals’ learning • A series of prologues written by the parents of individuals with AS • Contributions from internationally recognized experts on AS, communication disorders, psychology and education • Numerous practical, evidence-based strategies for conducting assessments and carrying out interventions among AS affected individuals Speech-language pathologists, allied healthcare providers and educators providing support to affected individuals should benefit from the information provided in the book by being able to identify appropriate communication, behavioral and educational goals. Laypersons, particularly parents, will also find the information highly useful in advocating for best practices for their children (which is partly fostered by the series of parental prologues). Angelman Syndrome: Communication, Educational, and Related Considerations will not only serve as a valuable reference for improving the learning experience for AS affected individuals but will also embolden both professionals and parents to maintain higher expectations for them.

Angelman Syndrome A to Z

Angelman Syndrome A to Z PDF Author: Julie Hyman
Publisher:
ISBN: 9780964941991
Category : Angelman syndrome
Languages : en
Pages : 137

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Book Description


Cassidy and Allanson's Management of Genetic Syndromes

Cassidy and Allanson's Management of Genetic Syndromes PDF Author: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104

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Book Description
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.

Eddyto's Journey

Eddyto's Journey PDF Author: Isabel Orellana
Publisher: Createspace Independent Publishing Platform
ISBN: 9781723224041
Category :
Languages : en
Pages : 76

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Book Description
Eddyto's journey is the story of a young boy who against all odds after being diagnosed with Angelman Syndrome, complex epilepsy and being nonverbal, tries to live a normal life through everyday inclusion. Eddyto enjoys going to school, playing with friends, reading books, and going to the movies and theatre. Eddyto is part of a family that supports him in reaching his maximum potential.

Management of Genetic Syndromes

Management of Genetic Syndromes PDF Author: Suzanne B. Cassidy
Publisher: John Wiley & Sons
ISBN: 1118210670
Category : Medical
Languages : en
Pages : 1678

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Book Description
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

In the Company of Angels

In the Company of Angels PDF Author: Pamela Jean Lyman
Publisher: Tate Publishing
ISBN: 1621475646
Category : Health & Fitness
Languages : en
Pages : 236

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Book Description
"Pam and her husband were ecstatic when they found out they were having a baby. When their precious son was born, they felt that their family was finally complete. But soon they realized that something was wrong and eventually were delivered the shocking news---their baby had been born with an irreversible condition called Angelman Syndrome"--Page 4 of cover

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease PDF Author: Roger N. Rosenberg
Publisher: Elsevier
ISBN: 0124105491
Category : Science
Languages : en
Pages : 1465

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Book Description
Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations

Pediatric Neurology, Part I

Pediatric Neurology, Part I PDF Author: Olivier Dulac
Publisher: Newnes
ISBN: 0444626980
Category : Medical
Languages : en
Pages : 893

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Book Description
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

Behavioural Phenotypes

Behavioural Phenotypes PDF Author: Gregory O'Brien
Publisher: Cambridge University Press
ISBN: 9781898683063
Category : Medical
Languages : en
Pages : 236

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Book Description
Increasing interest over recent years in the study of the influences of environment and genetic factors on behavioural disorder has come from a wide range of disciplines. These studies have subsequently been focused through the foundation of the Society for the Study of Behavioural Phenotypes, which forms the basis for assimilating new information and coordinating future research in this field. This volume from founder members of the society presents a distillation of thinking and reviews appropriate measurement schedules. Including research findings, explanation of concepts, genetic scientific techniques and methodological issues, this work will be welcomed by those with an interest in behavioural disorder at every level.

See the Hope

See the Hope PDF Author: Rylee Tipton
Publisher:
ISBN: 9781522085690
Category :
Languages : en
Pages : 65

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Book Description
This book was written by a girl with Angelman syndrome to describe her communication journey. People with Angelman syndrome have complex communication needs. She chronicles the process she went through toward freeing her inner thoughts. Rylee started this book at 9 years old and finished three years later. This book is intended for you to see the hope.