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Neurofibromatosis Type I in Childhood
 
 
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Neurofibromatosis Type I in Childhood [Hardcover]

Kathryn North (Author)


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Book Description

1898683131 978-1898683131 January 15, 1997 1
A great deal is now known about neurofibromatosis type 1, particularly as a result of the identification of its causative gene by positional cloning. Effective treatments for its resulting cosmetic disfigurement, impaired cognitive performance and even life-threatening malignancy however sadly remain elusive.

As Dr Korf remarks in his Foreword; ‘this book’s cogent and thorough description of neurofibromatosis in children will take its place alongside other major clinical studies of the disorder. (Dr North) has tackled some of the more challenging issues, such as the basis for learning disabilities and the optimal means for early detection of optic gliomas. Her work provides a guide to the clinician and stands as a provocative challenge to the neurofibromatosis research community to further explore the basis of these problems.’


  • Unique account of the basis of learning disorder in this condition
  • Provides guidance on optimal methods for early detection of optic glioma
  • A thorough review of current knowledge of neurofibromatosis in childhood

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Editorial Reviews

From The New England Journal of Medicine

The term "movement disorders" refers to a heterogeneous group of neurologic conditions that share the clinical presentation of involuntary movements and that are presumed to arise from pathophysiologic abnormalities in the basal ganglia or extrapyramidal motor system. Most of these conditions are rare, but a few, such as tic disorders, are quite common. Our understanding of the basic science underlying these disorders is rapidly increasing, thanks to the use of functional magnetic resonance imaging, positron emission tomography, and single-photon-emission computed tomography, along with advances in molecular genetics. Tools for clinical diagnosis and strategies for treatment, however, have lagged far behind knowledge about the underpinnings of the disorders.

Movement Disorders in Children is part of the International Review of Child Neurology Series published for the International Child Neurology Association. The two well-qualified authors and a number of contributors provide an up-to-date review of the literature and a structured approach to understanding these disorders. Each chapter is devoted to a group of disorders defined by the nature of the movements involved. This approach is useful, given the reasonable underlying assumption that the disorders in each group share some pathophysiological features and may therefore be ameliorated with the use of similar treatment strategies. The primary movement disorders, each of which is covered in a chapter of its own, include those in which the predominant feature is the hypokinetic-rigid syndrome, tremor, chorea or ballismus, dystonia or athetosis, myoclonus, or tics. Other chapters discuss diseases in which the presenting symptom is a mixed pattern of abnormal movements, diseases associated with paroxysmal movements, and secondary conditions such as drug-induced movement disorders and those that occur as part of cerebral palsy.

An introductory chapter briefly but adequately reviews the functional organization of the basal ganglia, the pathophysiology of movement disorders, and basic issues related to clinical diagnosis, demographics, and classification. The final chapter provides limited discussion of ancillary investigations, including electrophysiological studies, imaging studies, and tissue biopsies.

The book does not include an integrated discussion of the genetics of movement disorders. Although relevant information is provided in the discussion of each disorder, the advances that are currently being made in the area of molecular genetics are important enough to merit a comprehensive discussion in this book. Newly acquired genetic information not only is beginning to change our understanding of individual movement disorders, but is also defining new approaches to diagnosis and treatment. It is clear that the current nosology will have to be substantially modified on the basis of the genetic abnormalities underlying these conditions.

The preface notes that the book is geared toward clinically oriented neurologists and pediatricians. Despite its small size, this book will be a valuable reference source for specialists. It provides a comprehensive catalogue of movement disorders, including some that are exceedingly rare. The basic organization of the material is good, and the format of the book allows the reader to find the appropriate references easily; these references range from classic articles to those that are as recent as one could reasonably expect, given the usual interval between the completion of the manuscript and the distribution of the book.

Nonspecialists may find this book interesting to read, but it will be less useful for primary care pediatricians, who probably have little experience in the diagnosis and treatment of these disorders. The usefulness of the book would have been greatly enhanced by the inclusion of more tables and algorithms to assist clinicians in defining the abnormal movements they observe and in working their way toward the most likely diagnosis. For example, the chapter on chorea and ballismus presents a full-page table classifying the choreas but provides little guidance in the differential diagnosis. The chapter on dystonia and athetosis, on the other hand, has a number of useful tables and provides a much more structured and useful approach to diagnosis and management. It appears that the authors, in an attempt to be comprehensive, give equal weight to all of the literature reviewed and do not attempt to distill the information and present it in a form that would be useful to a nonexpert who encounters a patient with involuntary movements. Although the majority of such patients are referred to specialists, more guidance for primary care practitioners would result in more appropriate referrals.

One problem with all books on movement disorders is the difficulty involved in describing movements in words or in illustrating them with photographs. This book, and all others in this area of neurology, would be greatly enhanced if future editions could be accompanied by a videotape, CD, or DVD illustrating the defining characteristics of the movement disorders.

Gerald Golden, M.D.
Copyright © 2002 Massachusetts Medical Society. All rights reserved. The New England Journal of Medicine is a registered trademark of the MMS. --This text refers to an alternate Hardcover edition.

Review

!It is a well written thesis which contains an updated review of the literature of the subject and underscores the author’s expertise in neurofibromatosis … is to be recommended to paediatricians, neurologists and ophthalmologists interested in neurofibromatosis." J. J. De Laey, Oogheelkunde, Universiteit Gent

"Any doctor who is involved in the management of children with NF1 will find this book useful." Evan Reid, Journal of Medical Genetics

" … a very readable book that provides a wealth of information" Doody’s Health Sciences Book Review Journal


Product Details

  • Hardcover: 132 pages
  • Publisher: Mac Keith Press; 1 edition (January 15, 1997)
  • Language: English
  • ISBN-10: 1898683131
  • ISBN-13: 978-1898683131
  • Product Dimensions: 9.6 x 6.3 x 0.6 inches
  • Shipping Weight: 14.6 ounces
  • Amazon Best Sellers Rank: #3,321,719 in Books (See Top 100 in Books)

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Inside This Book (learn more)
First Sentence:
Neurofibromatosis type 1 (NF1) is a multisystem disorder with a prevalence of 1 in 4000 people (Huson et al. 1988). Read the first page
Key Phrases - Statistically Improbable Phrases (SIPs): (learn more)
asymptomatic optic gliomas, optic pathway tumours, neurofibromin expression, neurofibromatosis clinic, full field stimulation, hemifield stimulation, optic pathway gliomas, symptomatic tumours, chiasmal gliomas, academic learning disability, ophthalmological assessment, sphenoid wing dysplasia, special educational assistance, pathway pathology, dural ectasia, cutaneous neurofibromas, neurofibromatosis type, school performance problems, plexiform neurofibromas, hyperintense lesions, intracranial pathology, intracranial tumours, inferential analysis, syndrome scales, normal visual acuity
Key Phrases - Capitalized Phrases (CAPs): (learn more)
Consensus Development Conference, Judgement of Line Orientation, Age Visual Right
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