Publications by authors named "Elena Gonzalez Alguacil"
Purpose: Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in MECP2 gene. This study aims to describe the prevalence of orthopedic conditions in RTT patients, and examine their intricate interplay with functional capabilities, and MECP2 variant subtypes.
Methods: Conducted as a cross-sectional retrospective observational study, the research encompassed 55 patients meeting clinical RTT criteria and holding MECP2 mutations.
haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals.
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- 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.
Objective: Epilepsy with eyelid myoclonia (EEM) is a rare epileptic syndrome classified within the Genetic Generalized Epilepsies of childhood. It is characterized by a high drug resistance, and little is known about prognostic factors and neurodevelopmental comorbidities. The aim of this study was to describe the clinical features, cognitive profile, and prognostic factors in a series of children with EEM.
View Article and Find Full Text PDFAim: To evaluate the effectiveness and tolerability of cannabidiol (CBD) in patients with developmental and epileptic encephalopathies, including Dravet syndrome (DS), and Lennox-Gastaut syndrome (LGS), in a Spanish Expanded Access Program (EAP).
Methods: This was a multicenter, retrospective, observational study of patients treated with purified CBD in 14 hospitals across Spain. Patients with (1) written informed consent and (2) at least 6 months follow-up before the closure of the database were included.
Introduction: Anosmia and hypogeusia are frequent symptoms in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in adults, but their incidence in children is unknown.
Objective: Describe the incidence and associated characteristics of olfactory and gustatory dysfunction in children with SARS-CoV-2 infection.
Material And Methods: Descriptive study carried out by telephone survey of patients aged between five and 18 years with SARS-CoV-2 infection confirmed between March and December, 2020.
Background And Objectives: To determine the efficacy, tolerance, and safety of BRV in children with epilepsy.
Methods: A retrospective study of patients with epilepsy who received treatment with BRV before age 16 years and underwent a minimum follow-up of 3 months.
Method And Results: Sixty-six patients were included in the study.