Results 241 to 250 of about 3,757,153 (283)
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The Indian Journal of Pediatrics, 1997
Rett syndrome (RS) is a neurological disorder that mainly, and possibly exclusively, affects girls. After its description in 1966 by Andreas Rett in the Wiener Klinische Wochenschrift, awareness and interest in RS were enhanced by the 1983 report of Hagberg et al. in the Annals of Neurology. Diagnosis, and indeed the hypothesis that it exists, continue
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Rett syndrome (RS) is a neurological disorder that mainly, and possibly exclusively, affects girls. After its description in 1966 by Andreas Rett in the Wiener Klinische Wochenschrift, awareness and interest in RS were enhanced by the 1983 report of Hagberg et al. in the Annals of Neurology. Diagnosis, and indeed the hypothesis that it exists, continue
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Pediatrics, 1989
Recent case reports of Rett syndrome should help pediatricians recognize this important syndrome. Since the article by Moeschler et al was submitted for publication, new diagnostic criteria for Rett syndrome have been developed and published by a 41-member Rett syndrome Diagnostic Criteria Work Group representing the Centers for Disease Control and the
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Recent case reports of Rett syndrome should help pediatricians recognize this important syndrome. Since the article by Moeschler et al was submitted for publication, new diagnostic criteria for Rett syndrome have been developed and published by a 41-member Rett syndrome Diagnostic Criteria Work Group representing the Centers for Disease Control and the
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Neurophysiology of Rett Syndrome
Journal of Child Neurology, 2002Rett syndrome is a neurodevelopmental disorder that in most cases is consequent to a mutation in the MECP2 gene. The central nervous system is the primary organ system involved in Rett syndrome. Neurophysiologic evaluations provide information concerning the developmental aspects of Rett syndrome and the character and extent of involvement of the ...
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Neuropediatrics, 1993
An elevated CSF glutamate level has recently been reported in Rett syndrome. Because the anticonvulsant effect of Lamotrigine is probably due to inhibition of glutamate release, this drug was given as an add-on drug to 4 girls with Rett syndrome. All patients responded with a seizure reduction of 50% or more and an improved well-being.
P, Uldall, F J, Hansen, B, Tonnby
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An elevated CSF glutamate level has recently been reported in Rett syndrome. Because the anticonvulsant effect of Lamotrigine is probably due to inhibition of glutamate release, this drug was given as an add-on drug to 4 girls with Rett syndrome. All patients responded with a seizure reduction of 50% or more and an improved well-being.
P, Uldall, F J, Hansen, B, Tonnby
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Pediatric Anesthesia, 1996
SummaryRett syndrome is a devastingly disabling neurological disease that is only observed in girls. Scoliosis occurs in roughly half the girls and surgery may be required. Anaesthesia is described in three patients. Sudden death may be a feature of the disease which occurred four weeks postoperatively in one case.
O R, Dearlove, R W, Walker
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SummaryRett syndrome is a devastingly disabling neurological disease that is only observed in girls. Scoliosis occurs in roughly half the girls and surgery may be required. Anaesthesia is described in three patients. Sudden death may be a feature of the disease which occurred four weeks postoperatively in one case.
O R, Dearlove, R W, Walker
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Bromocriptine in the rett syndrome
Brain and Development, 1990Twelve typical cases of the Rett syndrome and one forme fruste were treated with bromocriptine for six months and then had a washout for two months followed by resumption of the bromocriptine treatment. During the first bromocriptine treatment there were improvements in communication and relaxation in some of the girls: a more regular sleep pattern was
M. Zappella +3 more
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Journal of Neural Transmission, 2003
Rett syndrome is a progressive, usually sporadic and rarely familial, disabling neurodevelopmental disorder with onset in early childhood presenting clinically with mental retardation, behavioral changes, late movement disturbances, loss of speech and hand skills, ataxia, apraxia, irregular breathing with hyperventilation while awake, and frequent ...
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Rett syndrome is a progressive, usually sporadic and rarely familial, disabling neurodevelopmental disorder with onset in early childhood presenting clinically with mental retardation, behavioral changes, late movement disturbances, loss of speech and hand skills, ataxia, apraxia, irregular breathing with hyperventilation while awake, and frequent ...
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Brain and Development, 1985
This is a case report of the Rett syndrome in a girl with normal general and psychomotor development during the first 12 mos. Afterwards developmental stagnation and retrogression appeared which led within one yr to dementia, autism, loss of purposeful hand use, truncal ataxia and apraxia of gait.
R, Brunel, R, Gilly
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This is a case report of the Rett syndrome in a girl with normal general and psychomotor development during the first 12 mos. Afterwards developmental stagnation and retrogression appeared which led within one yr to dementia, autism, loss of purposeful hand use, truncal ataxia and apraxia of gait.
R, Brunel, R, Gilly
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Rett syndrome and the electroencephalogram
American Journal of Medical Genetics, 1986The EEG is almost always abnormal in patients with Rett syndrome. This is demonstrated in a study based upon 230 EEG records obtained from 44 patients. Rhythmical slowing (mostly 3-5/sec) represents the most common EEG abnormality (30 patients). Diffuse, scattered or bilateral-synchronous spikes or sharp waves were found in 22 patients. Slow spike-wave
E. Niedermeyer +6 more
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On the genetics of the Rett syndrome
Brain and Development, 1985Ever since its recognition as a separate disease, the Rett syndrome has been reported to afflict girls only. For this reason, heredity has consistently remained at the forefront of discussions regarding putative causes. On account of the gravity of the disorder and the want for adequate therapy, the clarification of its genesis is of great practical ...
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