This book discusses in detail the genetic causes and implications, prevalence, physical characteristics, cognitive profiles, speech and language, medical complications, and behaviors of four major syndromes (Down, Williams, fragile X, and Prader-Willi) an

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.

The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.

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

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.

A comprehensive, up-to-date resource providing information about genetic influences on disorders of behavior.

This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome. The book includes the latest research findings concerning diagnosis on the basis of the appearance of a fragile site in cultured lymphocytes. It assumes little prior knowledge of the subject, and provides a clearly written, easy-to-understand discussion previously unavailable in a single reference source. The book will be of special interest to molecular biologists, cytogeneticists, medical geneticists, and clinicians and other professionals working with the mentally handicapped.

Children living in poverty are more likely to have mental health problems, and their conditions are more likely to be severe. Of the approximately 1.3 million children who were recipients of Supplemental Security Income (SSI) disability benefits in 2013, about 50% were disabled primarily due to a mental disorder. An increase in the number of children who are recipients of SSI benefits due to mental disorders has been observed through several decades of the program beginning in 1985 and continuing through 2010. Nevertheless, less than 1% of children in the United States are recipients of SSI disability benefits for a mental disorder. At the request of the Social Security Administration, Mental Disorders and Disability Among Low-Income Children compares national trends in the number of children with mental disorders with the trends in the number of children receiving benefits from the SSI program, and describes the possible factors that may contribute to any differences between the two groups. This report provides an overview of the current status of the diagnosis and treatment of mental disorders, and the levels of impairment in the U.S. population under age 18. The report focuses on 6 mental disorders, chosen due to their prevalence and the severity of disability attributed to those disorders within the SSI disability program: attention-deficit/hyperactivity disorder, oppositional defiant disorder/conduct disorder, autism spectrum disorder, intellectual disability, learning disabilities, and mood disorders. While this report is not a comprehensive discussion of these disorders, Mental Disorders and Disability Among Low-Income Children provides the best currently available information regarding demographics, diagnosis, treatment, and expectations for the disorder time course - both the natural course and under treatment.

The Handbook of Speech and Language Disorders presents a comprehensive survey of the latest research in communication disorders. Contributions from leading experts explore current issues, landmark studies, and the main topics in the field, and include relevant information on analytical methods and assessment. A series of foundational chapters covers a variety of important general principles irrespective of specific disorders. These chapters focus on such topics as classification, diversity considerations, intelligibility, the impact of genetic syndromes, and principles of assessment and intervention. Other chapters cover a wide range of language, speech, and cognitive/intellectual disorders.

Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.