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.

Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome / V. De Giorgis, S. Masnada, C. Varesio, M.A. Chiappedi, M. Zanaboni, L. Pasca, M. Filippini, J.A. Macasaet, M. Valente, C. Ferraris, A. Tagliabue, P. Veggiotti. - In: BRAIN AND BEHAVIOR. - ISSN 2162-3279. - 9:3(2019 Mar).

Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome

A. Tagliabue;P. Veggiotti
2019-03

Abstract

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.
GLUT1DS; cognitive profile; epilepsy; ketogenic diet; movement disorder
Settore MED/39 - Neuropsichiatria Infantile
4-feb-2019
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/621466
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