Neurogenetic SyndromesNeurogenetic Syndromes



An essential pediatrics textbook and professional reference, this volume sheds new light on neurogenetic syndromes using a promising clinical perspective: examining behavioral and psychological phenotypes, with a strong focus on the ...

Author: Bruce K. Shapiro

Publisher: Paul H Brookes Publishing Company

ISBN: 159857017X

Category:

Page: 308

View: 122

An essential pediatrics textbook and professional reference, this volume sheds new light on neurogenetic syndromes using a promising clinical perspective: examining behavioral and psychological phenotypes, with a strong focus on the influence of genetics. Linking science with practice, this comprehensive book combines the latest research of two dozen leading experts and shows how these advances in knowledge apply to treatment and therapy.

The Oxford Handbook of Autism and Co Occurring Psychiatric ConditionsThe Oxford Handbook of Autism and Co Occurring Psychiatric Conditions



In B. K. Shapiro & P. J. Accardo (Eds.), Neurogenetic syndromes: Behavioral
issues and their treatment (pp. 217–223). Baltimore, MD: Paul H. Brookes
Publishing. Handen, B. L., Aman, M. G., Arnold, L. E., Hyman, S. L., Tumuluru,
R. V., ...

Author: Susan W. White

Publisher: Oxford University Press, USA

ISBN: 9780190910761

Category:

Page: 472

View: 652

Co-occurring psychiatric conditions are extremely common among people who have autism spectrum disorder (ASD). The Oxford Handbook of Autism and Co-Occurring Psychiatric Conditions presents a compilation of the latest research in this area, summarized by internationally renowned experts. Each chapter presents an overview of the problem or disorder including information on prevalence in ASD and in the general public and a synthesis of the research on etiology, diagnostic best practices, and evidence-based intervention approaches. Case studies bring these concepts to life, and each chapter concludes with suggestions for future research directions in order to further develop our scientific and clinical understanding of the particular comorbidity. Given the fact that comorbidity is often a chronic and pervasive concern, this Handbook takes a lifespan approach, with each chapter touching on developmental aspects of the targeted problem, from early childhood through adulthood. The concluding section of the Handbook is comprised of content on clinical considerations and research approaches, including chapters on medications commonly used to treat co-occurring conditions, strategies for managing crisis situations in this clinical population, and community partnerships within an implementation science framework.

NeurogeneticsNeurogenetics



In this book, the authors use their extensive experience in the field of neurogenetics to provide readers with a practical approach for dealing with these conditions.

Author: Christine Klein

Publisher: Oxford University Press

ISBN: 9780199383894

Category:

Page: 208

View: 943

In this book, the authors use their extensive experience in the field of neurogenetics to provide readers with a practical approach for dealing with these conditions. The 31 chapters of this book cover a broad range of neurogenetic disorders, highlighting key issues with regards to the clinical assessment, diagnosis and management"--Provided by publisher.

Brain TumorsBrain Tumors



Neurogenetics and the molecular biology of human brain tumors Kamal Thapar
Kouzou Fukuyama James T. Rutka MIS ... In this chapter , we review some of the
neurogenetic syndromes ( NF - 1 , NF - 2 , tuberous sclerosis , von Hippel Lindau
 ...

Author: Andrew H. Kaye

Publisher: Saunders

ISBN: UOM:39015034901507

Category:

Page: 990

View: 672

This text aims to provide a complete coverage of brain tumours, including their biological basis, diagnosis and management techniques. It describes the present concepts of the treatment of all brain tumours.

Neurogenetic Developmental DisordersNeurogenetic Developmental Disorders



This collection provides a single resource that will help clinicians, pediatricians, neuropsychologists, educators, and others use the latest research to identify and treat a variety of genetic disorders as early as possible.

Author: Michèle M. M. Mazzocco

Publisher: MIT Press

ISBN: 9780262134804

Category:

Page: 507

View: 992

A reference to guide clinicians, researchers, teachers, and parents in identifying arange of genetic disorders despite widely variable cognitive, behavioral, and physicaleffects.

Early Development in Neurogenetic DisordersEarly Development in Neurogenetic Disorders



The comprehensive nature of the reviews of early development in neurogenetic disorders provided by top researchers in the field of developmental disabilities research Innovation in the application of new approaches to this population, such ...

Author: Deborah J. Fidler

Publisher: Academic Press

ISBN: 9780123744784

Category:

Page: 318

View: 164

This special issue is among the first volumes to examine the topic of early development in children with neurogenetic disorders associated with intellectual disability. It includes discussions of theoretical issues regarding the emergence of behavioural profiles during early development, as well as comprehensive accounts of early development in specific disorders such as Down syndrome, fragile X syndrome, Williams syndrome, and sex chromosome disorders. In addition, several contributions examine the latest clinical applications of this work for diagnosis, treatment, and education. The main selling points of this volume are: the comprehensive nature of the reviews of early development in neurogenetic disorders provided by top researchers in the field of developmental disabilities research. innovation in the application of new approaches to this population, such dynamic systems theory and the developmental trajectory approach to studying these populations place this volume on the cutting edge of theoretical work in this area this volume also addresses the implications of emerging behavioural phenotypes in neurogenetic disorders from many angles—the biological issues related to diagnosis, psychiatric issues related to comorbid conditions such as autism and autism spectrum disorder, and educational issues related to targeted intervention

Oxford Textbook of Attention Deficit Hyperactivity DisorderOxford Textbook of Attention Deficit Hyperactivity Disorder



The focus of this section is on those areas of practice that vary in people with ID
and neurogenetic disorders. Overlap of risk factors between intellectual disability
and ADHD As would be expected given the observed strong association ...

Author: Tobias Banaschewski

Publisher: Oxford University Press

ISBN: 9780192550750

Category:

Page: 496

View: 225

Attention deficit hyperactivity disorder (ADHD) is one of the most common mental disorders affecting children and adolescents. The condition is characterized by a persistent pattern of behavioural symptoms including inattentiveness, hyperactivity, and impulsiveness associated with substantial impairment in social, academic, and/or occupational functioning. Clinical and research interest in the topic of ADHD has grown substantially in recent years but, despite this, there is still a lack of up-to-date reference texts devoted to the diagnosis, assessment, and management of patients with these conditions. Part of the Oxford Textbooks in Psychiatry series, the Oxford Textbook of Attention Deficit Hyperactivity Disorder attempts to bridge this gap by providing an authoritative, multi-disciplinary guide to the latest research developments in the diagnosis, assessment, and management of patients with ADHD. Organized into eight key sections, this textbook covers the aetiology, pathophysiology, epidemiology, clinical presentation, co-morbidity, clinical assessment, and clinical management of ADHD. Individual chapters address key topics such as the clinical assessment of ADHD in adults, and contain information on best practice, current diagnostic guidelines including DSM-5 and ICD-11, and key up-to-date references for further reading. Edited and written by an international group of recognized experts, the Oxford Textbook of Attention Deficit Hyperactivity Disorder is a comprehensive resource suitable for child and adolescent psychiatrists, adult psychiatrists, and psychiatric trainees, as well as child psychologists, paediatricians, psychiatric nurses, and other mental health care professionals.

Neurologic Disease in WomenNeurologic Disease in Women



Although well-established in animals, the evidence for imprinting in humans is
still indirect, coming mostly from observations of two neurogenetic syndromes
that result from similar mutations in 15ql 1-13 (188), The Prader-Willi syndrome of
 ...

Author: Peter W. Kaplan

Publisher: Demos Medical Publishing

ISBN: UOM:39015045687509

Category:

Page: 453

View: 802

Addresses the gender differences in genetic expression, physiologic function, metabolism, hormonal makeup, and psychosocial profile which often affect the clinical expression of neurologic and other diseases. Thirty-two chapters discuss general anatomic, hormonal, epidemiologic, and drug aspects of

The Autism SpectrumThe Autism Spectrum



Table 5.1 Examples of syndromes and genetic disorders associated with ASDs
Neurogenetic syndromes with characteristic dysmorphology Fragile X syndrome
Angelman syndrome Prader-Willi syndrome 22q11 deletion syndrome CHARGE
 ...

Author: Mark Reber

Publisher: Cambridge University Press

ISBN: 9780521116879

Category:

Page: 337

View: 421

Written for the wide range of physicians and professionals who treat children and adults with autism spectrum disorders (ASDs), this book reviews the scientific research on the nature and causes of autism, outlines best treatment practices with children and describes a comprehensive assessment and treatment approach for adults. Topics covered include: • Classification, epidemiology and diagnosis • Neurodevelopmental abnormalities • Recommendations for early screening and evaluating at-risk children • Early interventions based on applied behavioral analysis • The critical role of special education, speech-language therapy, occupational therapy and assistive technology in treating children • Pharmacotherapy • Complementary and alternative treatments • Development of individualized and person-centered treatments for adults The Autism Spectrum is an invaluable resource for all those working with ASDs including pediatricians, psychiatrists, behavioral psychologists, special educators, nurses and therapists.

Functional Imaging in the EpilepsiesFunctional Imaging in the Epilepsies



Chugani reported a series of 140 cases of infantile spasms , including
Symptomatic Generalized Epilepsies 7 who had neurogenetic syndromes and 29
who West Syndrome had lesions on structural imaging ; among the patients
without ...

Author: Thomas R. Henry

Publisher:

ISBN: UOM:39015050740615

Category:

Page: 330

View: 834

s functional imaging becomes more crucial in discovering and understanding the neurological nuances that trigger seizures, one must be able to interpret the data that PET, SPECT and functional MRI scans collect. Functional Imaging in the Epilepsies, a top-notch text edited by international experts, thoroughly explains the use of these modalities to pinpoint where and why seizures occur

Diagnosis of Neurogenetic Disorders Contribution of Next Generation Sequencing and Deep PhenotypingDiagnosis of Neurogenetic Disorders Contribution of Next Generation Sequencing and Deep Phenotyping



The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult ...

Author: Alisdair McNeill

Publisher: MDPI

ISBN: 9783039216109

Category:

Page: 94

View: 350

The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient’s perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.

Paediatric Neurological Disorders with Cerebellar InvolvementPaediatric Neurological Disorders with Cerebellar Involvement



Cerebellar malformations and volume changes are known to be frequently
associated with neurodevelopmental disorders and neurogenetic syndromes,
with concomitant mental retardation. Children with such conditions have
disorders with ...

Author: Stefano D’Arrigo

Publisher: John Libbey Eurotext

ISBN: 9782742008353

Category:

Page: 248

View: 544

This book provides an update on pediatric neurological disorders with cerebellar involvement. The opening section of the volume is dedicated to the structure and function of cerebellum: the specific development of the cerebellum, unlike other structures of the central nervous system, begins at a later stage of foetal development and lasts longer, even after birth, thus making the cerebellum particularly vulnerable to a wide range of insults, both genetic and acquired. Of particular interest are chapters that focus on cerebellar disorders, which may occur in isolation, or else as part of more complex malformations of the posterior fossa or in association with other supratentorial anomalies. Such conditions may be encountered both as part of ‘static’ congenital encephalopathies as well as in the frame of neurodegenerative or neurometabolic disorders. The recent advances in neuroimaging and genetics have enabled us to characterize and define the genetic basis of an increasing number of paediatric cerebellar disorders. The last part of the volume is dedicated to care and rehabilitation in cerebellar diseases : their correct diagnosis is pivotal in order to address patients to the appropriate genetic testing, plan clinical management and therapeutic strategies, and provide adequate genetic counselling.

Emery s Elements of Medical GeneticsEmery s Elements of Medical Genetics



London Neurological Database ( LNDB ) Winter RM , Baraitser M . Oxford
Medical , Oxford University Press , Oxford A database for the diagnosis of
neurogenetic syndromes or disorders containing an abstract and information
about clinical ...

Author: Robert F. Mueller

Publisher:

ISBN: UOM:39015053139039

Category:

Page: 372

View: 516

Today's medical student needs to understand the principles of genetics rather than accumulate detailed facts. This text explains the essential themes of medical genetics whilst remaining in control of the developments in this subject.

Harrison s Principles of Internal MedicineHarrison s Principles of Internal Medicine



Many university centers In loss - of - function disorders , the mutation causes a
deficiency in offer testing for multiple neurogenetic disorders . an enzyme or
protein resulting in cellular dysfunction . The best defined CLINICAL AND ...

Author: Tinsley Randolph Harrison

Publisher: McGraw-Hill Companies

ISBN: 0070202931

Category:

Page: 2569

View: 489

NeurologyNeurology



For example , for neurogenetic diseases caused by the excess repetition of a
sequence of triplet base pairs ( e.g. , fragile X syndrome , myotonic muscular
dystrophy , Huntington's disease ) , the onset and severity of the clinical course
are ...

Author: Robert C. Collins

Publisher: W B Saunders Company

ISBN: UCLA:L0072946205

Category:

Page: 201

View: 409

An introductory text that provides a basic understanding of the fundamentals of neurology and the processes of common neurological diseases. Part 1 presents an overview of the field of neurology and an introduction to the patient. Part 2 is devoted to an analysis of disorders of movement, sensation, homeostasis, and the brain's higher functions. Part 3 contains 10 chapters devoted to the most common disease processes affecting the nervous system. Also features case studies, brief expositions of new experimental approaches, and discussions of current therapies. Describes an orderly approach to the neurological history and exam. Explores the fundamentals of neurological science--the basis of movement, sensation, homeostasis, and higher brain functions. Reviews the common symptoms of neurologic dysfunction and their pathophysiologic bases. Delivers a systematic approach to anatomic localization and differential diagnosis, as well as further workup toward etiology and therapy. Presents case histories illustrating real-life situations. Demonstrates important concepts with clear 2-colour illustrations and boxes.

Genetics and Genomics of Neurobehavioral DisordersGenetics and Genomics of Neurobehavioral Disorders



NEUROGENETIC SYNDROMES Genetic syndromes with well defined etiologies
provide an excellent opportunity for examining the contributions of genetics to
behavior and brain development. Unlike most psychiatric conditions, the
behaviors ...

Author: Gene S. Fisch

Publisher: Springer Science & Business Media

ISBN: 9781592593538

Category:

Page: 428

View: 133

A clear and comprehensive account of how genetic abnormalities, neurobiology, and neuropsychology work together to manifest cognitive-behavioral dysfunction. The authors review the current status of research in autosomal disorders that produce cognitive-behavioral dysfunction and syndromal and nonsyndromal disorders that produce mental retardation.