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- W2914890611 abstract "Abstract Introduction Glucose Transporter Type I Deficiency Syndrome ( GLUT 1 DS ) 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 GLUT 1 DS 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 GLUT 1 DS symptoms: epilepsy, movement disorders, and cognitive impairment." @default.
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- W2914890611 date "2019-02-04" @default.
- W2914890611 modified "2023-10-16" @default.
- W2914890611 title "Overall cognitive profiles in patients with <scp>GLUT</scp> 1 Deficiency Syndrome" @default.
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- W2914890611 doi "https://doi.org/10.1002/brb3.1224" @default.
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