Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome

Introduction Glucose Transporter Type I Deficiency Syndrome (GLUT1DS) classical symptoms are seizures, involuntary movements, and cognitive impairment but so far the literature has not devoted much attention to the last. Methods In our retrospective study involving 25 patients with established GLUT1DS diagnosis, we describe the cognitive impairment of these patients in detail and their response to the ketogenic diet in terms of cognitive improvement. Results We outlined a specific cognitive profile where performance skills were more affected than verbal ones, with prominent deficiencies in visuospatial and visuomotor abilities. We demonstrated the efficacy of ketogenic diet (KD) on cognitive outcome, with particular improvement tin total and verbal IQ; we found that timing of KD introduction was inversely related to IQ outcome: the later the starting of KD, the lower the IQ, more notable nonverbal scale (verbal IQ correlation coefficient -0.634, p-value = 0.015). We found a significant direct correlation between cognition and CSF/blood glucose ratio values: the higher the ratio, the better the cognitive improvement in response to diet (from T0-baseline evaluation to T1 on average 18 months after introduction of KD-: TIQ correlation coefficient 0.592, p-value = 0.26; VIQ correlation coefficient 0.555, p-value = 0.039). Finally, we demonstrated that a longer duration of treatment is necessary to find an improvement in patients with "severely low ratio." Conclusion Our results were consistent with the hypothesis that timing of the diet introduction is a predictive factor of cognitive outcome in these patients, confirming that earlier initiation of the diet may prevent the onset of all GLUT1DS symptoms: epilepsy, movement disorders, and cognitive impairment

Ketogenic diet use in children with intractable epilepsy secondary to malformations of cortical development : a two- centre experience

PURPOSE: To evaluate the efficacy and tolerability of the ketogenic diet (KD) as a treatment for drug-resistant epilepsy secondary to malformations of cortical development. METHODS: A two-centre retrospective analysis of 45 paediatric patients with refractory epilepsy due to malformation of cortical development was carried out. Patients were divided into three groups based on malformation type: abnormal neural proliferation (Group 1); abnormal neural migration (Group 2) and abnormal post-migrational development (Group 3). The efficacy of the KD was assessed in terms of seizure frequency reduction. We identified the proportion of patients achieving >\u202f50% seizure frequency reduction overall and in the three subgroups. RESULTS: The adherence to KD was variable. KD was pursued from a minimum of 4 months to a maximum of 96 months. 20 patients (44%) obtained a seizure reduction of >\u202f50% and 2 patients became seizure free.\u202f>50% seizure reduction was most commonly achieved by patients in group 3 (64.7%) than in groups 2 (31.8%) and 1 (33.3%). CONCLUSIONS: The best response was observed in patients with malformations of post migrational development. Considering its tolerability, the use of KD should be considered in patients with drug-resistant epilepsy secondary to malformations of cortical development when surgery is not a viable option

sPlotOpen – An environmentally balanced, open-access, global dataset of vegetation plots

Motivation: Assessing biodiversity status and trends in plant communities is critical for understanding, quantifying and predicting the effects of global change on ecosystems. Vegetation plots record the occurrence or abundance of all plant species co-occurring within delimited local areas. This allows species absences to be inferred, information seldom provided by existing global plant datasets. Although many vegetation plots have been recorded, most are not available to the global research community. A recent initiative, called ‘sPlot’, compiled the first global vegetation plot database, and continues to grow and curate it. The sPlot database, however, is extremely unbalanced spatially and environmentally, and is not open-access. Here, we address both these issues by (a) resampling the vegetation plots using several environmental variables as sampling strata and (b) securing permission from data holders of 105 local-to-regional datasets to openly release data. We thus present sPlotOpen, the largest open-access dataset of vegetation plots ever released. sPlotOpen can be used to explore global diversity at the plant community level, as ground truth data in remote sensing applications, or as a baseline for biodiversity monitoring. Main types of variable contained: Vegetation plots (n = 95,104) recording cover or abundance of naturally co-occurring vascular plant species within delimited areas. sPlotOpen contains three partially overlapping resampled datasets (c. 50,000 plots each), to be used as replicates in global analyses. Besides geographical location, date, plot size, biome, elevation, slope, aspect, vegetation type, naturalness, coverage of various vegetation layers, and source dataset, plot-level data also include community-weighted means and variances of 18 plant functional traits from the TRY Plant Trait Database. Spatial location and grain: Global, 0.01–40,000 m². Time period and grain: 1888–2015, recording dates. Major taxa and level of measurement: 42,677 vascular plant taxa, plot-level records. Software format: Three main matrices (.csv), relationally linked