title: Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study.
abstract: The aim of this study was to investigate the effects of ketogenic diet (KD) on cognitive function in patients with glucose transporter protein 1 deficiency syndrome (GLUT1-DS). Six patients with GLUT1-DS who were referred to the National Centre for Epilepsy in Norway during the period of November 2011-September 2013 were included. They were diagnosed with GLUT1-DS on the basis of early-onset seizures and developmental delay (with or without movement disorders or microcephaly) in addition to CSF-to-blood glucose ratio below 0.5. They were all treated with either classical KD or modified Atkins diet (MAD). The effect of the diet with >90% reduction in the seizure frequency was, in retrospect, considered as a support for the diagnosis. The patients underwent standardized neuropsychological assessment before the diet was initiated, and they were reassessed after a minimum of six months on the diet. The neuropsychological tests were individually selected for each patient in order to match their cognitive level. The main finding was a considerable improvement in several aspects of neuropsychological functioning after 6-17 months of dietary treatment in all the six patients. The greatest progress was seen in the youngest children. Our findings suggest that early diagnosis and dietary treatment are important in order to prevent developmental delay. However, also adults with GLUT1-DS may profit from dietary treatment by improving alertness, setting the stage for enhanced learning capacity, as well as physical endurance and quality of life.
authors.affiliation: Department of Refractory Epilepsy-SSE, Oslo University Hospital, Norway. Electronic address: anette.ramm-pettersen@ous-hf.no.
authors.forename: Anette
authors.initials: A
authors.lastname: Ramm-Pettersen
authors.affiliation: Department of Refractory Epilepsy-SSE, Oslo University Hospital, Norway.
authors.forename: Kirsten Engberg
authors.initials: KE
authors.lastname: Stabell
authors.affiliation: Department of Refractory Epilepsy-SSE, Oslo University Hospital, Norway.
authors.forename: Karl O
authors.initials: KO
authors.lastname: Nakken
authors.affiliation: Department of Medical Genetics, Oslo University Hospital and University of Oslo, Norway; National Centre for Rare Epilepsy-related Disorders, Oslo University Hospital, Norway.
authors.forename: Kaja Kristine
authors.initials: KK
authors.lastname: Selmer
mesh_terms: D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000178:diet therapy*; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000178:diet therapy* / Q000209:etiology; D055423:Diet, Ketogenic / Q000379:methods*; D004827:Epilepsy / Q000178:diet therapy* / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*; D016896:Treatment Outcome
chemical_list: D009004:Monosaccharide Transport Proteins
keywords: Cognition; Epilepsy; GLUT1-DS; Ketogenic diet