2 research outputs found

    Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome

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    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

    Italian regional health service costs for diagnosis and 1-year treatment of ADHD in children and adolescents

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    The main aim of this study was to estimate the costs associated with diagnostic assessment and 1-year therapy in children and adolescents enrolled in 18 ADHD reference centres. Data concerning 1887 children and adolescents from the mandatory ADHD registry database during the 2012-2014 period were analysed. The overall diagnostic and treatment costs per patient amounts to \u20ac574 and \u20ac830, respectively. The ADHD centre, the school as sender, and the time to diagnosis constitute cost drivers. Non-pharmacological therapy resulted as being more expensive for patients concomitantly treated with drugs (\u20ac929) compared to those treated with psychological interventions alone (\u20ac590; p=0.006). This study gives the first and reliable estimate of the costs associated with both diagnosis and treatment of ADHD in Italy. Although costs associated with mental disorders are difficult to estimate, continuing efforts are need to define costs and resources to guarantee appropriate care, also for ADHD
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