نتایج جستجو برای: rett syndrome
تعداد نتایج: 622097 فیلتر نتایج به سال:
Molecular motion of carbocyanine fluorophores DOCI, DODCI and DTDCI were studied in AOT/n-heptane microemulsions containing added polar solvents: water, methanol or acetonitrile. The response varied remarkably depending on the nature fluorophore solvent. When amount solvent was low, molecular mobility invariably retarded, due to a combination electrostatic hydrophobic forces that induce guest c...
This study utilized developmental profiling to examine symptoms in 14 girls with genetically confirmed Rett syndrome and whose families were participating in the Australian Rett syndrome or InterRett database. Regression was mostly characterized by loss of hand and/or communication skills (13/14) except one girl demonstrated slowing of skill development. Social withdrawal and inconsolable cryin...
OBJECTIVES We developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. METHODS An initial guidelines draft was created which included statements based upon literature review and 11 open-ended questions where literature was lacking. The international expert panel reviewed the draft online using ...
Rett syndrome is an X-linked neurodevelopmental condition mainly characterized by loss of spoken language and a regression of purposeful hand use, with the development of distinctive hand stereotypies, and gait abnormalities. Gait initiation is the transition from quiet stance to steady-state condition of walking. The associated motor program seems to be centrally mediated and includes preparat...
Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice
PURPOSE To investigate the association between genotype (methyl-CpG-binding protein 2 (MECP2 gene mutation)) and epileptic seizure phenotype in Rett syndrome. METHODS We used the British Isles Rett syndrome survey to identify 137 subjects with one of the nine most frequent MECP2 gene mutations and invited their parents or carers to participate in a postal questionnaire and telephone interview...
OBJECTIVE To identify the clinical characteristics and investigate function related aspects of Korean children with Rett syndrome. METHOD A total of 26 patients diagnosed as Rett syndrome were clinically observed until the age of five or over. We surveyed past history, developmental history, and presence of typical clinical features of Rett syndrome. Furthermore, we investigated differences i...
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