Domains to the rescue for Rett syndrome

West, Anne E.

doi:10.1038/nature24151

Cited by 2 publications

(1 citation statement)

References 15 publications

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“…Rett syndrome (RTT) is a neurodevelopmental disorder predominantly affecting females and characterized by mental retardation, stereotypical hand movements, and seizure [1, 2]. It is primarily caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene on Xq28, which encodes MECP2 [3, 4].…”

Section: Introductionmentioning

confidence: 99%

Tapping-lips aggravated interictal bilateral discharges in EEG in the patients with Rett syndrome: a case report

Luo

Wang

et al. 2019

BMC Neurol

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Background Rett syndrome (RTT) is a severe neurodevelopmental disorder mainly affecting females. One of the main clinical manifestations is hand stereotypies, which is presumed to based on dysfunction rather than on structural impairment. Reflex interictal discharge precipitated by tapping-lips in electroencephalogram (EEG) is a rare phenomenon among RTT. Case presentation We firstly reported a case of RTT concerning interictal reflex discharge precipitated by tapping- lips. The child, female, 5 years old, presented with a significant regression in motor development and language skills. She almost always tapped the lips with the right hand and stopped only when was interrupted. Her EEG results displayed extensive low amplitude fast wave could be elicited by lightly and slowly- rhythm tapping lips and multifocal bilateral discharges could be precipitated by relatively stronger and quicker rhythm action. It was when the movement stopped that corresponding discharges immediately disappeared. Besides, the reflex discharges were not precipitated by tapping- lips using observer’s hand at the certain tempo and intensity. The hand stereotypies did not respond to antiepileptic drugs. Conclusions Tapping- lips may be a somatosensory stimulation to precipitate interictal discharges in RTT, which may provide another idea to enrich the insight on hand stereotypies of RTT.

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Section: Introductionmentioning

confidence: 99%