Neuropsychological Outcome of Glucose Transporter-1 Deficiency Syndrome: a Case Study of Identical Twin Boys Without Intellectual Disability

Akman, C. I., Engelstad, K., Hinton, V. J., Ullner, P., Koenigsberger, D., Leary, L., Wang, D., & De Vivo, D. C. (2010). Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency. Annals of Neurology, 67(1), 31–40. https://doi.org/10.1002/ana.21797.

Article  PubMed  Google Scholar 

Alter, A. S., Engelstad, K., Hinton, V. J., Montes, J., Pearson, T. S., Akman, C. I., & De Vivo, D. C. (2015). Long-term clinical course of GLUT1 deficiency syndrome. Journal of Child Neurology, 30(2), 160–169. https://doi.org/10.1177/0883073814531822.

Article  PubMed  Google Scholar 

Beery, K. E., & Beery, N. A. (2010). Beery developmental test of visual-motor integration--sixth edition. PsycTESTS Dataset. https://doi.org/10.1037/t48947-000

Bertelli, M. O., Cooper, S., & Salvador-Carulla, L. (2018). Intelligence and specific cognitive functions in intellectual disability: Implications for assessment and classification. Current Opinion in Psychiatry, 31(2), 88–95. https://doi.org/10.1097/YCO.0000000000000387.

Article  PubMed  Google Scholar 

Brownlow, M. L., Benner, L., D’Agostino, D., Gordon, M. N., & Morgan, D. (2013). Ketogenic diet improves motor performance but not cognition in two mouse models of Alzheimer’s pathology. PLoS ONE, 8(9), e75713. https://doi.org/10.1371/journal.pone.0075713.

Article  PubMed  PubMed Central  Google Scholar 

De Giorgis, V., & Veggiotti, P. (2013). GLUT1 deficiency syndrome 2013: Current state of the art. Seizure: European Journal of Epilepsy, 22(10), 803–811. https://doi.org/10.1016/j.seizure.2013.07.003.

Article  Google Scholar 

De Vivo, D., Trifiletti, R., Jacobson, R., Ronen, G., Behmand, R., & Harik, S. (1991). Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. New England Journal of Medicine, 325(10), 703–709.

Article  PubMed  Google Scholar 

Delis, D. C., Kramer, J. H., Kaplan, E., & Ober, B. A. (1994). California Verbal Learning Test–Children’s Version (CVLT–C). NCS Pearson.

Google Scholar 

Delis, D. C., Kaplan, E., & Krammer, J. H. (2001). Delis-Kaplan executive function system. Pearson.

Google Scholar 

Finkel, D., Pedersen, N. L., Plomin, R., & McClearn, G. E. (1998). Longitudinal and cross-sectional twin data on cognitive abilities in adulthood: The Swedish adoption/twin study of aging. Developmental Psychology, 34(6), 1400–1413. https://doi.org/10.1037/0012-1649.34.6.1400.

Article  PubMed  Google Scholar 

Graham, J. M. (2012). GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder. European Journal of Medical Genetics, 55(5), 332–334. https://doi.org/10.1016/j.ejmg.2011.11.009.

Article  PubMed  Google Scholar 

Guhn, M., Forer, B., & Zumbo, B. D. (2014). Reliable change index. In A. C. Michalos (Ed.), Encyclopedia of quality of life and well-being research. Springer. https://doi.org/10.1007/978-94-007-0753-5_2465.

Chapter  Google Scholar 

Harrison, P., & Oakland, T. (2015). Adaptive behavior assessment system, third edition (ABAS-3). Pearson.

Hartman, A. L., & Vining, E. P. G. (2007). Clinical aspects of the ketogenic diet. Epilepsia (Copenhagen), 48(1), 31–42. https://doi.org/10.1111/j.1528-1167.2007.00914.x.

Article  Google Scholar 

Hartman, A. L., Gasior, M., Vining, E. P. G., & Rogawski, M. A. (2007). The neuropharmacology of the ketogenic diet. Pediatric Neurology, 36(5), 281–292. https://doi.org/10.1016/j.pediatrneurol.2007.02.008.

Article  PubMed  PubMed Central  Google Scholar 

Ito, S., Shen, L., Dai, Q., Wu, S. C., Collins, L. B., Swenberg, J. A., He, C., & Zhang, Y. (2011). Tet proteins can convert 5-methylcytosine to 5-formylcytosine and 5-carboxylcytosine. Science, 333(6047), 1300–1303 http://www.jstor.org/stable/23060179.

Article  PubMed  PubMed Central  Google Scholar 

Ito, Y., Takahashi, S., Kagitani-Shimono, K., Natsume, J., Yanagihara, K., Fujii, T., & Oguni, H. (2015). Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. Brain and Development, 37(8), 780–789. https://doi.org/10.1016/j.braindev.2014.11.006.

Article  PubMed  Google Scholar 

Klepper, J., & Leiendecker, B. (2007). GLUT1 deficiency syndrome—2007 update. Developmental Medicine & Child Neurology, 49(9), 707–716. https://doi.org/10.1111/j.1469-8749.2007.00707.x.

Article  Google Scholar 

Klepper, J., Akman, C., Armeno, M., Auvin, S., Cervenka, M., Cross, H., … De Vivo, D (2020). Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group. Epilepsia Open, 5, 354– 365. https://doi.org/10.1002/epi4.12414.

Knights, R. M., & Moule, A. D. (1968). Normative data on the motor steadiness battery for children. Perceptual and Motor Skills, 26(2), 643–650. https://doi.org/10.2466/pms.1968.26.2.643

Korkman, M., Kirk, U., & Kemp, S. (2007). NEPSY - Second Edition (NEPSY - II) [Database record]. APA PsycTests. https://doi.org/10.1037/t15125-000.

Koy, A., Assmann, B., Klepper, J., & Mayatepek, E. (2011). Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy. Developmental Medicine and Child Neurology, 53(12), 1154–1156. https://doi.org/10.1111/j.1469-8749.2011.04082.x.

Article  PubMed  Google Scholar 

Kumar, N. K., Merrill, J. D., Carlson, S., German, J., & Yancy, J. (2022). Adherence to low-carbohydrate diets in patients with diabetes: A narrative review. Diabetes, Metabolic Syndrome and Obesity, 15, 477–498. https://doi.org/10.2147/DMSO.S292742.

Article  PubMed  PubMed Central  Google Scholar 

Lambrechts, D. A. J. E., Wielders, L. H. P., Aldenkamp, A. P., Kessels, F. G. H., de Kinderen, R. J. A., & Majoie, M. J. M. (2012). The ketogenic diet as a treatment option in adults with chronic refractory epilepsy: Efficacy and tolerability in clinical practice. Epilepsy & Behavior, 23(3), 310–314. https://doi.org/10.1016/j.yebeh.2012.01.002.

Article  Google Scholar 

Landry, M. J., Crimarco, A., Perelman, D., Durand, L. R., Petlura, C., Aronica, L., Robinson, J. L., Kim, S. H., & Gardner, C. D. (2021). Adherence to ketogenic and mediterranean study diets in a crossover trial: The Keto-Med randomized trial. Nutrients, 13(3), 967. https://doi.org/10.3390/nu13030967.

Article  PubMed  PubMed Central  Google Scholar 

Leen, W. G., Klepper, J., Verbeek, M. M., Leferink, M., Hofste, T., van Engelen, B. G., Wevers, R. A., Arthur, T., Bahi-Buisson, N., Ballhausen, D., Bekhof, J., van Bogaert, P., Carrilho, I., Chabrol, B., Champion, M. P., Coldwell, J., Clayton, P., Donner, E., Evangeliou, A., Ebinger, F., … Willemsen, M. A. (2010). Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder. Brain: A Journal of Neurology, 133(3), 655–670. https://doi.org/10.1093/brain/awp336.

Lukyanova, E., Ayvazyan, S., Osipova, K., Sorvacheva, T., & Pyreva, E. (2016). Effect of ketogenic diet on cognitive and motor functions in children with drug-resistant epilepsy. Epilepsy and Paroxysmal Conditions, 8(1), 37–42. https://doi.org/10.17749/2077-8333.2016.8.1.037-042.

Article  Google Scholar 

Manly, T., Robertson, I. H., Anderson, V., & Nimmo-Smith, I. (1999). The test of everyday attention for children - TEA-ch. Thames Valley Test Company.

McAlonan, G. M., Lee, A. M., Cheung, V., Cheung, C., Tsang, K. W., Sham, P. C., Chua, S. E., & Wong, J. G. (2007). Immediate and sustained psychological impact of an emerging infectious disease outbreak on health care workers. Canadian Journal of Psychiatry, 52(4), 241–247. https://doi.org/10.1177/070674370705200406.

Article  PubMed  Google Scholar 

Mosing, M. A., Mellanby, J., Martin, N. G., & Wright, M. J. (2012). Genetic and environmental influences on analogical and categorical verbal and spatial reasoning in 12-year old twins. Behavior Genetics, 42(5), 722–731. https://doi.org/10.1007/s10519-012-9540-3.

Article  PubMed  Google Scholar 

Osterrieth, P. A. (1944). Le test de copie d'une figure complexe; contribution à l'étude de la perception et de la mémoire. [Test of copying a complex figure; contribution to the study of perception and memory.]. Archives de Psychologie, 30, 206–356.

Overwalle, V., Baetens, K., Mariën, P., & Vandekerckhove, M. (2014). Social cognition and the cerebellum: A meta-analysis of over 350 fMRI studies. NeuroImage, 86, 554–572. https://doi.org/10.1016/j.neuroimage.2013.09.033.

Article  PubMed  Google Scholar 

Patel, D., Apple, R., & Kanungo, S. (2018). Intellectual disability: Definitions, evaluation and principles of treatment. Pediatric Medicine, 1(11). https://doi.org/10.21037/pm.2018.12.02.

Pearson, T. S., Akman, C., Hinton, V. J., Engelstad, K., & De Vivo, D. C. (2013). Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (GLUT1 DS). Current Neurology and Neuroscience Reports, 13(4), 1-9, 342. https://doi.org/10.1007/s11910-013-0342-7.

Ramm-Pettersen, A., Nakken, K. O., Haavardsholm, K. C., & Selmer, K. K. (2014a). Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet. Epilepsy & Behavior, 32(Complete), 76–78. https://doi.org/10.1016/j.yebeh.2014.01.003.

Article  Google Scholar 

Ramm-Pettersen, A., Stabell, K. E., Nakken, K. O., & Selmer, K. K. (2014b). Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study. Epilepsy & Behavior, 39(Complete), 111–115. https://doi.org/10.1016/j.yebeh.2014.08.015.

Article  Google Scholar 

Scheffer, I. E. (2012). GLUT1 deficiency: A glut of epilepsy phenotypes. Neurology, 78(8), 524–525. https://doi.org/10.1212/WNL.0b013e318248a245.

Article  PubMed  Google Scholar 

Seidner, G., Alvarez, M. G., Yeh, J. I., O'Driscoll, K. R., Klepper, J., Stump, T. S., Wang, D., Spinner, N. B., Birnbaum, M. J., & De Vivo, D. C. (1998). GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nature Genetics, 18(2), 188–191. https://doi.org/10.1038/ng0298-188.

Article  PubMed  Google Scholar 

Sheslow, D., & Adams, W. (2003). Wide range assessment of memory and learning (2nd ed.). Psychological Assessment Resources, Inc..

Google Scholar 

Suls, A., Mullen, S. A., Weber, Y. G., Verhaert, K., Ceulemans, B., Guerrini, R., Wuttke, T. V., Salvo-Vargas, A., Deprez, L., Claes, L. R. F., Jordanova, A., Berkovic, S. F., Lerche, H., De Jonghe, P., & Scheffer, I. E. (2009). Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Annals of Neurology, 66(3), 415–419. https://doi.org/10.1002/ana.21724.

Article  PubMed  Google Scholar 

Tistarelli, N., Fagnani, C., Troianiello, M., Stazi, M. A., & Adriani, W. (2020). The nature and nurture of ADHD and its comorbidities: A narrative review on twin studies. Neuroscience and Biobehavioral Reviews, 109, 63–77. https://doi.org/10.1016/j.neubiorev.2019.12.017.

Article  PubMed  Google Scholar 

van Leeuwen, M., van den Berg, S. M., Peper, J. S., Pol, H. E. H., & Boomsma, D. I. (2009). Genetic covariance structure of reading, intelligence and memory in children. Behavior Genetics, 39(3), 245–254. https://doi.org/10.1007/s10519-009-9264-1.

Article  PubMed  Google Scholar 

Veggiotti, P., Teutonico, F., Alfei, E., Nardocci, N., Zorzi, G., Tagliabue, A., De Giorgis, V., & Balottin, U. (2009). Glucose transporter type 1 deficiency: Ketogenic diet in three patients with atypical phenotype. Brain & Development, 32(5), 404–408. https://doi.org/10.1016/j.braindev.2009.04.013.

Article  Google Scholar 

Vermeer, S. E., Longstreth Jr., W. T., & Koudstaal, P. J. (2007). Silent brain infarcts: A systematic review. The Lancet. Neurology, 6(7), 611–619. https://doi.org/10.1016/S1474-4422(07)70170-9.

Article  PubMed  Google Scholar 

Wang, D., Kranz-Eble, P., & De Vivo, D. C. (2000). Mutational analysis of GLUT1 (SLC2A1) in GLUT-1 deficiency syndrome. Human Mutation, 16(3), 224–231. https://doi.org/10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P

Wang, D., Pascual, J. M., & De Vivo, D. (2002). Glucose transporter type 1 deficiency syndrome. M. P. Adam (Eds.) et. al., GeneReviews. University of Washington, .

Wang, D., Pascual, J. M., Yang, H., Engelstad, K., Jhung, S., Sun, R. P., & De Vivo, D. C. (2005). GLUT-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects. Annals of Neurology, 57(1), 111–118. https://doi.org/10.1002/ana.20331.

Article  PubMed  Google Scholar 

Weber, Y. G., Storch, A., Wuttke, T. V., Brockmann, K., Kempfle, J., Maljevic, S., Margari, L., Kamm, C., Schneider, S. A., Huber, S. M., Pekrun, A., Roebling, R., Seebohm, G., Koka, S., Lang, C., Kraft, E., Blazevic, D., Salvo-Vargas, A., Fauler, M., … Lerche, H. (2008). GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. Journal of Clinical Investigation, 118(6), 2157–2168. https://doi.org/10.1172/JCI34438.

Wechsler, D. (2009). Wechsler individual achievement test (3rd ed.). Psychological Corporation.

Wechsler, D. (2014). Wechsler Intelligence Scale for Children (5th ed., WISC–V). Pearson.

Wiig, E. H., & Secord, W.A. (2014). Clinical Evaluation of Language Fundamentals–Fifth Edition Metalinguistics. Pearson.

Wiig, E. H., Semel, E., & Secord, W. A. (2013). Clinical evaluation of language fundamentals-fifth edition (CELF-5). NCS Pearson.

Wylie-Rosett, J., Aebersold, K., Conlon, B., Isasi, C. R., & Ostrovsky, N. W. (2013). Health effects of low-carbohydrate diets: Where should new research go? Current Diabetes Reports, 13(2), 271–278. https://doi.org/10.1007/s11892-012-0357-5.

Article  PubMed  PubMed Central 

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