Speech & Language Development & Intervention in Down Syndrome & Fragile X Syndrome


Book Description

Written by leading experts, this is the most up-to-date resource on speech and language assessment and intervention for professionals working with infants to adults with Down Syndrome and Fragile X Syndrome.




Fragile X Syndrome


Book Description

This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine







Child Language


Book Description

Comprises 17 papers presented at the Child Language Seminar, Bangor 1994, with contributions in areas as diverse as bilingual development, phonological disorders, sign language development, and the language of Down's syndrome children.




Epigenetics in Psychiatry


Book Description

Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. - Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease - Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins - Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery - Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) - Features chapter contributions from international leaders in the field




Genetics and Mental Retardation Syndromes


Book Description

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




Educating Children with Fragile X Syndrome


Book Description

What is Fragile X? The most common inherited cause of learning difficulties, affecting a child's ability to tackle key areas such as literacy and numeracy, and causing behaviour problems and social anxiety. What can teachers do to help children with Fragile X become more effective learners? This definitive text will provide essential support and information for teachers with the expertise of an international field of researchers, whose variety of perspectives contribute to a unique, multi-professional approach. Each chapter of the book suggests practical intervention strategies, based on sound educational principles expressed in clear non-specific terms. A range of important topics are considered, including: * the physical and behavioural characteristics of Fragile X * the effects of Fragile X on learning * medication and therapy * related conditions such as autism and attention deficit disorders. Breaking down the barriers of professional practice, this book establishes the groundwork for successful and valuable multi-professional teamwork. By providing immediate access to a body of empirical knowledge and advice from other disciplines, it will encourage teachers to incorporate this approach into their own practice. Everyone responsible for the education of a child with Fragile X syndrome should read this book.




Developmental Theory and Language Disorders


Book Description

The chapters in this volume arise from presentations at a unique conference on typical and atypical language development held in Madison, USA in 2002. This joint meeting of the International Association for the Study of Child Language, and the Symposium for Research in Child Language Disorders brought together – for the first time in such large numbers – researchers from these two distinct but related fields. The week-long schedule of the conference allowed for an in-depth interrogation of their theoretical positions, methodologies and findings. In the contributions to this volume we have put together a carefully selected set of papers which from various perspectives explore the linkage between developmental theory and language impairment, and at the same time illustrate the effects of distinct conditions – hearing loss, autism, Down syndrome, Williams syndrome and specific language impairment – on the communication abilities of affected individuals. An introductory chapter, and a detailed summary which picks up recurring themes in the chapters, complete the volume.




Verbal Perseveration


Book Description

Introductory textbooks on neurogenic communication disorders associated with aphasia and brain injury do not provide full documentation of the pervasive influence of perseveration in the diagnosis and treatment of clients with severe language processing deficits. This special issue of Aphasiology aims to revives the profound interest in verbal perseveration observed in the classical German literature between 1890 and 1931. Various aspects of the phenomenon of perseveration are addressed in this issue. When and under what circumstances do perseverations occur? What are the characteristics of perseverative errors and how do they relate to non-perseverative sound and word errors? The papers share a common goal, namely to understand the origin of the phenomenon 'perseveration' in healthy subjects and clients with brain damage and injury. An overarching claim throughout the papers is that perseveration reflects the client's primary language processing deficits.




The Fragile X Syndrome


Book Description

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.