Results 251 to 260 of about 3,757,153 (283)

Rett Syndrome and Menstruation

Journal of Pediatric and Adolescent Gynecology, 2012
Describe the experience that girls with Rett syndrome have with menstruation including menstrual hygiene, dysmenorrhea, premenstrual syndrome (PMS), and attempts at treatment.Anonymous web-based survey.Convenience sample recruited from Rett syndrome LISTSERV in July of 2009.Mothers of girls with Rett syndrome between the ages of 10-25 who have had at ...
Amy, Hamilton, Michael P, Marshal, Gina S, Sucato, Pamela J, Murray   +3 more
openaire   +2 more sources

Neurophysiology of Rett syndrome

Brain and Development, 2001
Neurophysiological studies on Rett syndrome (RTT) are reviewed, and pathophysiology of RTT is discussed. The electroencephalography (EEG), sensory evoked potentials (SEP), sleep-wake rhythm study and polysomnography (PSG) study showed age-dependent characteristics.
openaire   +2 more sources

Biotin and rett syndrome

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, J. P. Colombo, E. Gugler, W. Kilian, A. Rett, V. da Silva, John M. Opitz, James F. Reynolds   +7 more
openaire   +2 more sources

Anatomy of rett syndrome

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, Masaya Segawa, John M. Opitz, James F. Reynolds   +3 more
openaire   +2 more sources

Scoliosis in the Rett syndrome

Brain and Development, 1990
Of 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
openaire   +2 more sources

A New Scale to Evaluate Motor Function in Rett Syndrome: Validation and Psychometric Properties.

Pediatric Neurology, 2019
BACKGROUND We aim to describe and psychometrically validate the Rett Syndrome Motor Evaluation Scale, a 25-item ordinal scale examining (loco-)motor function across six sections: standing, sitting, transitions, walking, running, and walking up or ...
Marina Luisa Rodocanachi Roidi, I. Isaias, F. Cozzi, Francesca Grange, F. M. Scotti, V. F. Gestra, A. Gandini, E. Ripamonti   +7 more
semanticscholar   +1 more source

Pathophysiology of rett syndrome

Brain and Development, 1987
Rett syndrome is a distinct clinical entity with an unknown cause. In previous publications we stressed the age related sequential appearance of pathognomonic symptoms of Rett syndrome and suggested the early central monoaminergic deficiency disorder as the pathophysiology.
Y, Nomura, K, Honda, M, Segawa
openaire   +2 more sources

Neuropathology of rett syndrome

American Journal of Medical Genetics, 1986
Autopsy studies in 8 girls with the Rett syndrome dying between 4 and 15 years showed: Diffuse cerebral atrophy/micrencephaly, with a decrease in brain weight by 13.8 to 33.8% of age-matched controls, apparently related to the duration of the disorder; Mild, but inconsistent diffuse cortical atrophy without developmental disorders apart from occasional
Kurt Jellinger, Franz Seitelberger, John M. Opitz, James F. Reynolds   +3 more
openaire   +2 more sources

Neuropathology of Rett syndrome

Acta Neuropathologica, 1988
Rett syndrome is an increasingly recognized progressive disorder in females, commencing in infancy and characterized by autistic behavior, gait ataxia, stereotyped movements, seizures and generalized growth and mental retardation, possibly associated with disorders of central biogenic amine synthesis.
K, Jellinger, D, Armstrong, H Y, Zoghbi, A K, Percy   +3 more
openaire   +2 more sources

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Nature Genetics, 1999
R. Amir, I. B. Van den Veyver, Mimi Wan, Charles Q. Tran, U. Francke, H. Zoghbi   +5 more
semanticscholar   +1 more source