Results 201 to 210 of about 18,028 (242)
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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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Journal of Child Neurology, 2003
Girls with Rett syndrome display signs of neuronal dysfunction including mental retardation, seizures, stereotyped movements, and abnormal breathing and autonomic control. Decelerating head growth during infancy might reflect a disorder in production or pruning of neuronal synapses or both.
Michael V, Johnston +2 more
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Girls with Rett syndrome display signs of neuronal dysfunction including mental retardation, seizures, stereotyped movements, and abnormal breathing and autonomic control. Decelerating head growth during infancy might reflect a disorder in production or pruning of neuronal synapses or both.
Michael V, Johnston +2 more
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American Journal of Medical Genetics, 1986
Rett syndrome is a clinical entity with a distinct set of signs and symptoms. Its etiology is unknown. We review here our observations in this disorder based upon clinical and polysomnographic examinations which are consistent with a developmental disorder of the monoaminergic neural system.
Yoshiko Nomura +3 more
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Rett syndrome is a clinical entity with a distinct set of signs and symptoms. Its etiology is unknown. We review here our observations in this disorder based upon clinical and polysomnographic examinations which are consistent with a developmental disorder of the monoaminergic neural system.
Yoshiko Nomura +3 more
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Scoliosis in the Rett syndrome
Brain and Development, 1990Of 32 patients with classical Rett syndrome, radiographs of the spine could be obtained in 30; two had moved. Five (17%), ranging in age from 3.2-11.5 years, had a curve of 10 degrees or less. Twenty-five (83%) had scoliosis. The age at first diagnosis of scoliosis ranged from 4.3 to 18 years of age. The curves ranged from 10 degrees to 86 degrees at a
V A, Holm, H A, King
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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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American Journal of Medical Genetics, 1986
A protein load with an ensuing 20 hr fast was performed to assess the function of biotin dependent carboxylases in 3 girls with Rett syndrome. In plasma a moderate increase of ammonia and propionate was found. The fact that these discrete biochemical alterations were found in all of the patients supports earlier conclusions that further studies on ...
C. Bachmann +7 more
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A protein load with an ensuing 20 hr fast was performed to assess the function of biotin dependent carboxylases in 3 girls with Rett syndrome. In plasma a moderate increase of ammonia and propionate was found. The fact that these discrete biochemical alterations were found in all of the patients supports earlier conclusions that further studies on ...
C. Bachmann +7 more
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Neuropediatrics, 1995
From a neurobiologic perspective, Rett syndrome appears to disrupt the growth of axonodendritic connections among neurons. The cell packing density within the grey matter is increased but the total number of neurons is relatively normal, except for selected neuronal populations such as the nucleus basalis of Meynert (NBM) and the substantia nigra ...
M V, Johnston, C, Hohmann, M E, Blue
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From a neurobiologic perspective, Rett syndrome appears to disrupt the growth of axonodendritic connections among neurons. The cell packing density within the grey matter is increased but the total number of neurons is relatively normal, except for selected neuronal populations such as the nucleus basalis of Meynert (NBM) and the substantia nigra ...
M V, Johnston, C, Hohmann, M E, Blue
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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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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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