Repetitive active and passive cognitive stimulations induce EEG changes in patients with Rett syndrome
Ana TostAlejandro BachillerInés Medina-RiveraSergio RomeroLeidy-Yanet SernaMónica Rojas-MartínezÁngeles García‐CazorlaMiguel Ángel Mañanas
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Rett Syndrome
Rett Syndrome
MeCP2
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Aims: Male Rett-Syndrome is extremely rare and associated with a very poor outcome. Rett-Syndrome is due to a mutation in the MECP2-Gen(Xq28). Two variants of the Rett-Syndrome are caused by mutations on the CDKL-5 Gen(Xp22) or the FOXG1-Gen(14q12). Here we present a 5-year-old boy with Rett-Syndrome together with the results of standard genetic testing from blood and mucosal swabs.
Rett Syndrome
MeCP2
Xq28
Genetic disorder
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Rett Syndrome
MeCP2
Neurodevelopmental disorder
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本研究は、8歳のRett症候群女児における手の常同運動の"休止"を分析したものである。ここで休止とは、下記の取り組み場面で、非常に顕著な手の常同運動が一時的にみられなくなる状態のことである。設定した場面は次の通りである。すなわち、(1)本児は、プッシュ式スイッチが取り付けられ外部動力により動く車椅子に座っている。(2)常同運動を行っていた右手をスイッチのほうに伸ばしてそれを押す動作は、毎回、援助者によりガイドされるが、車椅子が動きはじめて数〜数十秒後にはガイドの手が離され、本児単独でスイッチの上に手を乗せている状態、すなわち、常同運動が休止している状態となる。この休止(1秒以上)は、計8セッションの取り組み全体において185回観察され、最長時間は8分に達した。休止の持続時間を5つの活動水準に基づいて分類した結果、休止を導いた主要因は、移動に伴う環境変化への視覚的注意と身体的・精神的弛緩状態であると考えられた。
Rett Syndrome
Girl
MeCP2
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Rett syndrome (RTT) is a rare genetic neurodevelopmental disarray in which children are mostly effected with relapse of previously acquired skills after a period of normal development. Rett syndrome is usually identified in children age between 6to 18 months as they begin to lose the abilities they gained.it is caused by the mutation on the x chromosome on a gene MECP2.There are about 900 different mutations found on MECP2 gene. It is not a degenerative disorder. The course and severity of Rett syndrome is determined by the location, type and severity of the mutation and X-inactivation. In more than 99 percent of people with Rett syndrome, there is no history of the disorder in their family.
Rett Syndrome
MeCP2
Neurodevelopmental disorder
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A rare case of a 40 month old girl has been diagnosed clinically to be that of the Rett syndrome, i.e. demonstrating regression in the development, repetitive handwringing movements and inability to speak. There were no specific laboratory findings.
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Girl
MeCP2
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Rett syndrome (RTT) has been described in its classic form only in females. Although the majority of cases are sporadic, familial cases give valuable insight into the genetic basis and phenotypic variability of the disorder. The exclusive occurrence of classic Rett syndrome in females led to the hypothesis that the Rett syndrome locus is likely to be X-linked and mutations are lethal in hemizygous males. We identified two boys in families with recurrent Rett syndrome who had encephalopathies with neonatal onset and who may represent the phenotype of males harboring Rett syndrome muta tions. The difference in severity of disease in these males and their female relatives supports the location of Rett syndrome locus on the X-chromosome. (J Child Neurol 1998;13:229-231).
Rett Syndrome
MeCP2
Neurodevelopmental disorder
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Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).
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MeCP2
Neurodevelopmental disorder
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Rett syndrome in 32 children (31 girls and 1 boy) was diagnosed according to International association on Rett syndrome. The phenomenon of the presence of special type of late-replicating chromosome X (type C) was revealed. This phenomenon may be recommended as a diagnostic test for both preclinical periods of development of the disease and in atypical cases of Rett syndrome.
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MeCP2
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Rett syndrome, one of the leading causes of mental retardation and developmental regression in girls, is the first pervasive developmental disorder with a known genetic cause. The majority of cases of sporadic Rett syndrome are caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 binds methylated DNA and likely regulates gene expression and chromatin structure. Genotype/phenotype analysis revealed that the phenotypic spectrum of MECP2 mutations in humans is broader than initially suspected: Mutations have been discovered in Rett syndrome variants, mentally retarded males, and autistic children. A variety of in vivo and in vitro models has been developed that allow analysis of MeCP2 function and pathogenic studies of Rett syndrome. Because the neuropathology of Rett syndrome shares certain features with other neurodevelopmental disorders, a common pathogenic process may underlie these disorders. Thus, Rett syndrome is a prototype for the genetic, molecular, and neurobiological analysis of neurodevelopmental disorders.
Rett Syndrome
MeCP2
Neurodevelopmental disorder
Angelman Syndrome
Microcephaly
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