Publications by authors named "I Medina-Rivera"

Background: Despite being considered a rare disease, Rett syndrome is a leading cause of profound cognitive impairment in females. This study explores game-based cognitive stimulation to enhance attention during learning tasks, offering an alternative treatment perspective.

Methods: Fifteen diagnosed Rett syndrome girls participated in four 24-minute sessions, including a 5-minute initial resting state recording.

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Background: Functional connectivity is scarcely studied in Rett syndrome (RTT). Explorations revealed associations between RTT's clinical, genetic profiles, and coherence measures, highlighting an unexplored frontier in understanding RTT's neural mechanisms and cognitive processes.

Aims: To evaluate the effects of diverse cognitive stimulations-learning-focused versus gaming-oriented-on electroencephalography brain connectivity in RTT.

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Article Synopsis
  • GRIN-related disorders are rare developmental conditions in children caused by genetic variants, which often lead to various cognitive and behavioral challenges with few treatment options available.
  • A non-randomized phase 2A trial tested L-serine as a potential treatment for these disorders in children aged 2-18, measuring its safety and efficacy over a 52-week period using several behavioral and cognitive assessment tools.
  • Twenty-four participants were included in the study, showing improvements in specific skill areas, particularly in children with milder impairments, demonstrating promise for L-serine as a therapeutic option for those with GRIN genetic variants.
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Rett syndrome (RTT) is considered a rare disease despite being the leading genetic disorder to cause severe intellectual disability in women. There is no cure for RTT, so the treatment is symptomatic and supporting, requiring a multidisciplinary approach. Occupational therapy can help girls and their families to improve communication, being one of the main concerns when verbal language and intentional hand movement are impaired or lost.

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Background: Knowledge regarding neuropsychological training in Rett syndrome (RS) is scarce. The aim of this study was to assess the outcome and the duration of the effect of cognitive stimulation on topographic electroencephalography (EEG) data in RS.

Methods: Twenty female children diagnosed with RS were included in the analysis.

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