Educating Children with Velo-cardio-facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome


Book Description

The 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome and DiGeorge syndrome, is relatively new. The genetic test to determine if a child has it has only been available since 1994. Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition, effectively blends the thoughtful research that has transpired within the past 25 years with practical and current educational strategies to better meet the needs of children with the 22q11.2 deletion syndrome and other developmental disabilities. With its expanded content, as well as new contributions from some of the most highly-regarded experts in the field, Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition is an essential resource for teachers, parents, physicians, and therapists of children with this complicated learning profile. To first address the scientific information that is needed to understand the syndrome and the implications of current research, expert contributors present the results of current studies involving brain abnormalities, language / learning profiles, medical needs, and psychiatric and behavioral difficulties. These valuable chapters are written in a reader-friendly manner to help parents, professionals, and teachers gain useful and necessary comprehension of the unique characteristics of the 22q11.2DS population. The second part of the book is a practical guide to educating a child with 22q11.2DS from birth through adulthood. Divided into the various stages of development from preschool to adulthood, it includes information regarding the necessary tests special education teams should run, typical difficulties associated with learning, changes that occur with ability as the child matures, and behavioral problems in the school setting. Key Updates to the Third Edition include: Addition of recent research studies since 2012, Current research and treatment options for mental health issues, Expanded and enhanced coverage of bullying and the social/emotional aspects of the syndrome, Discussion on the possibility of cognitive decline and how to address this at school, More information on Common Core State Standards and standardized testing for children with disabilities, including a section on understanding test scores, Homeschooling and other placement alternatives, Executive functioning deficits, their impact in the classroom, and approaches to use, Dealing with problem behaviors such as withdrawal and school refusal, Cognitive remediation and new treatment strategies, New math and reading remediation techniques, New options for programming and post-secondary placements Book jacket.




Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition


Book Description

The 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome and DiGeorge syndrome, is relatively new. The genetic test to determine if a child has it has only been available since 1994. Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition, effectively blends the thoughtful research that has transpired within the past 25 years with practical and current educational strategies to better meet the needs of children with the 22q11.2 deletion syndrome and other developmental disabilities. With its expanded content, as well as new contributions from some of the most highly regarded experts in the field, Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition is an essential resource for teachers, parents, physicians, and therapists of children with this complicated learning profile. To first address the scientific information that is needed to understand the syndrome and the implications of current research, expert contributors present the results of current studies involving brain abnormalities, language/learning profiles, medical needs, and psychiatric and behavioral difficulties. These valuable chapters are written in a reader-friendly manner to help parents, professionals, and teachers gain useful and necessary comprehension of the unique characteristics of the 22q11.2DS population. The second part of the book is a practical guide to educating a child with 22q11.2DS from birth through adulthood. Divided into the various stages of development from preschool to adulthood, it includes information regarding the necessary tests special education teams should run, typical difficulties associated with learning, changes that occur with ability as the child matures, and behavioral problems in the school setting. New to the Third Edition: * Addition of recent research studies since 2012 * Current research and treatment options for mental health issues * Expanded and enhanced coverage of bullying and the social/emotional aspects of the syndrome * Discussion on the possibility of cognitive decline and how to address this at school * More information on Common Core State Standards and standardized testing for children with disabilities, including a section on understanding test scores * Homeschooling and other placement alternatives * Executive functioning deficits, their impact in the classroom, and approaches to use * Dealing with problem behaviors such as withdrawal and school refusal * Cognitive remediation and new treatment strategies * New math and reading remediation techniques * New options for programming and post-secondary placements




CHARGE Syndrome, Second Edition


Book Description

It was first described in 1979, named in 1981, and in 2004 a gene for CHARGE was identified. In addition to a host of other conditions, most individuals have communication-related problems, including hearing, vision, balance, breathing, swallowing, and speech. Each of the editors is an established expert on CHARGE syndrome and has received the highest award bestowed by the CHARGE Syndrome Foundation, the Stars in CHARGE. They represent three different disciplines: psychology, genetic counseling, and clinical pediatrics. Additional information and studies on CHARGE have advanced to the degree that warrant a second edition of this book. As in the first edition, this book describes the sensory, physical, communicative, and behavioral findings in CHARGE. Authors include experts in the field, including a number from the CHARGE Center at Cincinnati Children’s Hospital Medical Center. New to the Second Edition: * Co-Editor, Kim D. Blake, MD * A chapter on Educational Issues has been added * Reorganized for a greater flow of information * All chapters have been revised and updated * References have been completely updated * More images and illustrations * Includes related videos Disclaimer: Please note that ancillary content (such as documents, audio, and video, etc.) may not be included as published in the original print version of this book.




Yearning for Normal


Book Description

This award winning book tells a mother's story of raising her son Michael, who was born missing a submicroscopic piece of chromosome 22. That tiny missing fragment of DNA affected every aspect of his life physically, mentally, and spiritually. Michael's mother describes her adventures and misadventures with the medical system, educational system, and legal system during his growing up years. While Michael and his mother were both yearning for normal through their struggles, they were also learning acceptance of life as it is with all its glory and imperfections. This heartbreaking journey takes readers through hospitals, backyards, schoolrooms, psychiatric wards, court rooms, a burn unit, and the corridors of Susan's heart. This story is not just for parents of children with special needs, but for their friends, neighbors, doctors, nurses, teachers, speech therapists, social workers, police officers, paramedics, firefighters, ministers and whoever else likes a good story. This story is also for those who have watched someone they love suffer, and felt hopeless and powerless, wondering where God was in the midst of the pain.




Waardenburg Syndrome


Book Description




Velo-Cardio-Facial Syndrome Volume 2


Book Description




Management of Genetic Syndromes


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




Cleft Palate Speech and Resonance


Book Description

Cleft Palate Speech and Resonance: An Audio and Video Resource is a clinical tool to train students and clinicians to reliably identify articulation, resonance, nasal air emission, and voice aspects of cleft palate speech. The resource contains high-quality audio and video recordings of speech samples and case studies that represent a variety of speech symptoms associated with cleft palate. In addition, it includes a brief overview of the velopharyngeal mechanism and a protocol for the clinical assessment of patients with cleft-related speech disorders. All information presented is evidence based and reflects the most current knowledge on cleft palate speech. Assessment and treatment concepts in cleft care have changed significantly over the past 25 years. Speech-language pathologists need easy access to new information and state-of-the-art resources that explicitly deal with cleft care. Because children with cleft lip and palate constitute a low-incidence population, many practitioners have limited academic or clinical training in this area. The goal of this resource is to improve the knowledge base and clinical skills of practitioners by presenting current information through a range of auditory-perceptual experiences. Key Features: * Case studies with an extensive array of audio and video samples of recorded speech disorders produced by individuals with cleft palate * Addresses both knowledge and skills by presenting a wide range of auditory-perceptual experiences and content knowledge that will help students and clinicians identify the variety of speech disorders in cleft palate and the methods by which to assess them * The speech samples reflect current thinking and it contain 101 high-quality digital speech samples and cases - more than any other current text * Provides the reader with concise yet complete descriptions of the speech features associated with cleft palate and a systematic approach to assessing speech, resonance, and phonation * Presents opportunities for independent practice in listening and analyzing a variety of communication disorders and complexity and comparing perceptual findings with the authors For instructors of speech-language pathology, Cleft Palate Speech and Resonance provides a much-needed teaching resource that is necessary to understanding and identifying speech disorders in speakers with cleft palate. Practicing speech-language pathologists can use it to retool their skills and it is also a great resource for dental and medical students and residents as well as those practitioners who already serve a cleft palate team.




The Abilities in Me


Book Description

This picture book is dedicated to children born with a condition called 22q deletion, also known as DiGeorge Syndrome. Explore the day in the life of a young boy with 22q through bright, colourful illustrations and text. Perfect for teachers, parents and children alike, this book will bring awareness of the condition and teach children how to be supportive and be kind. This is the first book released from The abilities in me book series. This collection of books will show how each child can celebrate their abilities within their disability, find acceptance and create awareness to those around them. Dedicated to Logan Keir, age 6 with 22q deletion.




Behavioral Neurogenetics


Book Description

This book covers a wide array of topics relevant to behavioral genetics from both a preclinical and clinical standpoint. Indeed in juxtaposing both areas of research the reader will appreciate the true translational nature of the field. Topics covered range from technical advances in genetic analysis in humans and animals to specific descriptions of advances in schizophrenia, attention disorders, depression and anxiety disorders, autism, aggression, neurodegeneration and neurodevelopmental disorders. The importance of gene-environment interactions is emphasised and the role of neuroimaging in unravelling the functional consequences of genetic variability described. This volume will be valued by both the basic scientist and clinician alike who may use it as a detailed reference book. It will also be of use to the novice to the field, to whom it will serve as an in-depth introduction to this exciting area of research.