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Rett Syndrome - Clinical and Biological Aspects: Studies on 130 Swedish Females (Clinics in Developmental Medicine (Mac Keith Press))
 
 
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Rett Syndrome - Clinical and Biological Aspects: Studies on 130 Swedish Females (Clinics in Developmental Medicine (Mac Keith Press)) [Hardcover]

Bengt Hagberg (Editor)

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Book Description

July 30, 1993 0521412838 978-0521412834 1
This volume provides a detailed survey of the clinical development of Rett syndrome from its earliest manifestations in childhood to adulthood. The volume surveys the developmental profile of the disease, its characteristic cluster of symptoms and signs, and categorizes the four main clinical stages in the development of motor disability. Particular emphasis is given to Rett syndrome variants and other clinical conditions which manifest themselves in a similar way to Rett syndrome. The development of scoliosis with age and disease stage is analysed. The neurophysiologic, neuropathologic and neurochemical characteristics are also examined. In addition, the volume looks at the molecular genetics of the syndrome, drug treatment and possible future developments.

Editorial Reviews

Review

"...presents the disorder quite neatly, is very well written and perfectly manufactured. I very highly recommend the purchase and study of this fine text!" Journal of Neurological and Orthopaedic Medicine and Surgery

"...represents a valuable synopsis of the clinical picture." Uta Francke and Carolyn Schanen, American Journal of Human Genetics

"This book reflects the present state-of-knowledge of the Rett syndrom. It is based on a series of observations of 130 patients in Sweden, and it contains a detailed description of the clinical symptoms and the course, as well as a thorough bibliography. The book is of very great importance for the neuropediatrician. The pediatric neurosurgeon should also be aware of this syndrome." D. Voth, Mainz, Neurosurgical Review

Book Description

This volume provides a detailed survey of the clinical development of Rett syndrome from its earliest manifestations in childhood through to adulthood. The volume surveys the developmental profile of the disease, its characteristic cluster of symptoms and signs, and categorises the four main clinical stages in the development of motor disability.

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Inside This Book (learn more)
First Sentence:
Rett syndrome (RS) is extraordinary in many respects. Read the first page
Key Phrases - Statistically Improbable Phrases (SIPs): (learn more)
distal limb atrophy, lower motor neuron impairment, describing impairment profile, suggested staging system, hand stereotypies, purposeful hand use, brace treatment, stereotypic hand movements, progressive syndrome, infantile neuronal ceroid lipofuscinosis, onset variant, breathing abnormalities, growth deceleration, curve progression, autistic traits, stereotypic movements, pincer grasp, truncal ataxia, forme fruste, infantile spasms
Key Phrases - Capitalized Phrases (CAPs): (learn more)
American Journal of Medical Genetics, Annals of Neurology, Pediatric Neurology, Acta Paediatrica Scandinavica, Journal of Child Neurology, American Journal of Human Genetics, Journal of Neurology, Rett Research, Acta Neuropathologica, Archives of Neurology, Ingegerd Witt, Insignificant Obvious, Journal of Pediatric Orthopaedics
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