214
Views
1
CrossRef citations to date
0
Altmetric
Grand Rounds

A comparison of neuropsychological function between monozygotic twins with neurofibromatosis, type 1: A case report

&
Pages 1049-1064 | Received 13 Aug 2018, Accepted 15 May 2019, Published online: 03 Jun 2019

References

  • Cohen, J. S., Levy, H. P., Sloan, J., Dariotis, J., & Biesecker, B. B. (2015). Depression among adults with neurofibromatosis type 1: Prevalence and impact on quality of life. Clinical Genetics, 88(5), 425–430. doi:10.1111/cge.12551
  • Cutting, L. E., Cooper, K. L., Koth, C. W., Mostofsky, S. H., Kates, W. R., Denckla, M. B., & Kaufmann, W. E. (2002). Megalencephaly in NF1 predominantly white matter contribution and mitigation by ADHD. Neurology, 59(9), 1388–1394. doi:10.1212/01.WNL.0000032370.68306.8A
  • Cutting, L. E., & Levine, T. M. (2010). Cognitive profile of children with neurofibromatosis and reading disabilities. Child Neuropsychology, 16(5), 417–432. doi:10.1080/09297041003761985
  • Descheemaeker, M. J., Plasschaert, E., Frijns, J. P., & Legius, E. (2013). Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group. Journal of Intellectual Disability Research, 57(9), 874–886. doi:10.1111/j.1365-2788.2012.01648.x
  • Detjen, A. K., Tinschert, S., Kaufmann, D., Algermissen, B., Nürnberg, P., & Schuelke, M. (2007). Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1. Twin Research and Human Genetics, 10(3), 486–495. doi:10.1375/twin.10.3.486
  • DiMario, F. J., & Ramsby, G. (1998). Magnetic resonance imaging lesion analysis in neurofibromatosis type 1. Archives of Neurology, 55(4), 500–505. doi:10.1001/archneur.55.4.500
  • Easton, D. F., Ponder, M. A., Huson, S. M., & Ponder, B. A. (1993). An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): Evidence for modifying genes. American Journal of Human Genetics, 53(2), 305–313. Retrieved from https://www.cell.com/ajhg/home
  • Ferner, R. E., Hughes, R. A. C., & Weinman, J. (1996). Intellectual impairment in neurofibromatosis 1. Journal of the Neurological Sciences, 138(1-2), 125–133. doi:10.1016/0022-510X(96)00022-6
  • Gagnier, J. J., Kienle, G., Altman, D. G., Moher, D., Sox, H., & Riley, D. (2014). The CARE guidelines: Consensus-based clinical case report guideline development. Journal of Clinical Epidemiology, 67(1), 46–51. doi:10.1016/j.jclinepi.2013.08.003
  • Gill, D. S., Hyman, S. L., Steinberg, A., & North, K. N. (2006). Age-related findings on MRI in neurofibromatosis type 1. Pediatric Radiology, 36(10), 1048–1056. doi:10.1007/s00247-006-0267-2
  • Harder, A., Titze, S., Herbst, L., Harder, T., Guse, K., Tinschert, S., … Peters, H. (2010). Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5′ untranslated region, exon and intron 1. Twin Research and Human Genetics, 13(6), 582–594. doi:10.1375/twin.13.6.582
  • Hyman, S. L., Gill, D. S., Shores, E. A., Steinberg, A., Joy, P., Gibikote, S. V., & North, K. N. (2003). Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1. Neurology, 60(7), 1139–1145. doi:10.1212/01.WNL.0000055090.78351.C1
  • Hyman, S. L., Gill, D. S., Shores, E. A., Steinberg, A., & North, K. N. (2007). T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. Journal of Neurology, Neurosurgery, and Psychiatry, 78(10), 1088–1091. doi:10.1136/jnnp.2006.108134
  • Hyman, S. L., Shores, A., & North, K. N. (2005). The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology, 65(7), 1037–1044. doi:10.1212/01.wnl.0000179303.72345.ce
  • Hyman, S. L., Shores, E. A., & North, K. N. (2006). Learning disabilities in children with neurofibromatosis type 1: Subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Developmental Medicine & Child Neurology, 48(12), 973–977. doi:10.1017/S0012162206002131
  • Janusz, J. A. (2010). A case of neurofibromatosis type 1. In J. E. Morgan, I. S. Baron, & J. H. Ricker (Eds.), Casebook of Clinical Neuropsychology (pp. 111–119). New York, NY: Oxford University Press.
  • Kaplan, L., Foster, R., Shen, Y., Parry, D. M., McMaster, M. L., O'Leary, M. C., & Gusella, J. F. (2010). Monozygotic twins discordant for neurofibromatosis 1. American Journal of Medical Genetics Part A, 152A(3), 601–606. doi:10.1002/ajmg.a.33271
  • Klein-Tasman, B. P., Janke, K. M., Luo, W., Casnar, C. L., Hunter, S. J., Tonsgard, J., … Kais, L. A. (2014). Cognitive and psychosocial phenotype of young children with neurofibromatosis-1. Journal of the International Neuropsychological Society, 20(1), 88–98. doi:10.1017/S1355617713001227
  • Koth, C. W., Cutting, L. E., & Denckla, M. B. (2000). The association of neurofibromatosis type 1 and attention deficit hyperactivity disorder. Child Neuropsychology, 6(3), 185–194. doi:10.1076/chin.6.3.185.3155
  • Koul, R. L., Chacko, A., & Leven, H. O. (2000). Dandy–Walker syndrome in association with neurofibromatosis in monozygotic twins. Saudi Medical Journal, 21(4), 390–392.Retrieved from https://www.smj.org.sa/
  • Lehtonen, A., Garg, S., Roberts, S. A., Trump, D., Evans, D. G., Green, J., & Huson, S. M. (2015). Cognition in children with neurofibromatosis type 1: Data from a population-based study. Developmental Medicine & Child Neurology, 57(7), 645–651. doi:10.1111/dmcn.12734
  • Lehtonen, A., Howie, E., Trump, D., & Huson, S. M. (2013). Behaviour in children with neurofibromatosis type 1: Cognition, executive function, attention, emotion, and social competence. Developmental Medicine & Child Neurology, 55(2), 111–125. doi:10.1111/j.1469-8749.2012.04399.x
  • Levine, T. M., Materek, A., Abel, J., O’Donnell, M., & Cutting, L. E. (2006). Cognitive profile of neurofibromatosis type 1. Seminars in Pediatric Neurology, 13(1), 8–20. doi:10.1016/j.spen.2006.01.006
  • Licis, A. K., Vallorani, A., Gao, F., Chen, C., Lenox, J., Yamada, K. A., … Gutmann, D. H. (2013). Prevalence of sleep disturbances in children with neurofibromatosis type 1. Journal of Child Neurology, 28(11), 1400–1405. doi:10.1177/0883073813500849
  • Moore, B. D., Slopis, J., Schomer, D., Jackson, E., & Levy, B. (1996). Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis. Neurology, 46(6), 1660–1668. doi:10.1212/WNL.46.6.1660
  • National Institutes of Health. (1988). National Institutes of Health consensus development conference statement: Neurofibromatosis. Archives of Neurology, 45, 575–578. doi:10.1001/archneur.1988.00520290115023
  • National Institutes of Health (2017). Neurofibromatosis type 1. Retrieved from https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1
  • North, K. (1993). Neurofibromatosis type 1: Review of the first 200 patients in an Australian clinic. Journal of Child Neurology, 8(4), 395–402. doi:10.1177/088307389300800421
  • North, K. (2000). Neurofibromatosis type 1. American Journal of Medical Genetics, 97(2), 119–127. doi:10.1002/1096-8628(200022)97:2<119::AID-AJMG3>3.0.CO;2-3
  • North, K. N., Riccardi, V., Samango-Sprouse, C., Ferner, R., Moore, B., Legius, E., … Denckla, M. B. (1997). Cognitive function and academic performance in neurofibromatosis 1: Consensus statement from the NF1 Cognitive Disorders Task Force. Neurology, 48(4), 1121–1127. doi:10.1212/WNL.48.4.1121
  • Ouwens, K. G., Jansen, R., Tolhuis, B., Slagboom, P. E., Penninx, B. W., & Boomsma, D. I. (2018). A characterization of postzygotic mutations identified in monozygotic twins. Human Mutation, 39(10), 1393–1401. doi:10.1002/humu.23586
  • Page, P. Z., Page, G. P., Ecosse, E., Korf, B. R., Leplege, A., & Wolkenstein, P. (2006). Impact of neurofibromatosis 1 on quality of life: A cross‐sectional study of 176 American cases. American Journal of Medical Genetics Part A, 140(18), 1893–1898. doi:10.1002/ajmg.a.31422
  • Pavol, M., Hiscock, M., Massman, P., Moore, I. B., Foorman, B., & Meyers, C. (2006). Neuropsychological function in adults with von Recklinghausen's neurofibromatosis. Developmental Neuropsychology, 29(3), 509–526. doi:10.1207/s15326942dn2903_8
  • Payne, J. M., Hyman, S. L., Shores, E. A., & North, K. N. (2011). Assessment of executive function and attention in children with neurofibromatosis type 1: Relationships between cognitive measures and real-world behavior. Child Neuropsychology, 17(4), 313–329. doi:10.1080/09297049.2010.542746
  • Payne, J. M., Moharir, M. D., Webster, R., & North, K. N. (2010). Brain structure and function in neurofibromatosis type 1: Current concepts and future directions. Journal of Neurology, Neurosurgery, and Psychiatry, 81(3), 304–309. doi:10.1136/jnnp.2009.179630
  • Payne, J. M., Pickering, T., Porter, M., Oates, E. C., Walia, N., Prelog, K., & North, K. N. (2014). Longitudinal assessment of cognition and T2‐hyperintensities in NF1: An 18‐year study. American Journal of Medical Genetics Part A, 164(3), 661–665. doi:10.1002/ajmg.a.36338
  • Rasmussen, S. A., & Friedman, J. M. (2000). NF1 gene and neurofibromatosis 1. American Journal of Epidemiology, 151(1), 33–40. doi:10.1093/oxfordjournals.aje.a010118
  • Riccardi, V. M. (1992). Type 1 neurofibromatosis and the pediatric patient. Current Problems in Pediatrics, 22(2), 66–106. doi:10.1016/0045-9380(92)90053-2
  • Rieley, M. B., Stevenson, D. A., Viskochil, D. H., Tinkle, B. T., Martin, L. J., & Schorry, E. K. (2011). Variable expression of neurofibromatosis 1 in monozygotic twins. American Journal of Medical Genetics Part A, 155(3), 478–485. doi:10.1002/ajmg.a.33851
  • Schrimsher, G. W., Billingsley, R. L., Slopis, J. M., & Moore, B. D. 3rd. (2003). Visual-spatial performance deficits in children with neurofibromatosis type-1. American Journal of Medical Genetics Part A, 120A(3), 326–330. doi:10.1002/ajmg.a.20048
  • Sites, E. R., Smolarek, T. A., Martin, L. J., Viskochil, D. H., Stevenson, D. A., Ullrich, N. J., … Schorry, E. K. (2017). Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1. American Journal of Medical Genetics Part A, 173(3), 647–653. doi:10.1002/ajmg.a.38058
  • Smith, T., Groen, A. D., & Wynn, J. W. (2000). Randomized trial of intensive early intervention for children with pervasive developmental disorder. American Journal on Mental Retardation, 105(4), 269–285. doi:10.1352/0895-8017(2000)105<0269:RTOIEI>2.0.CO;2
  • Tekin, S., & Cummings, J. L. (2002). Frontal–subcortical neuronal circuits and clinical neuropsychiatry: An update. Journal of Psychosomatic Research, 53(2), 647–654. doi:10.1016/S0022-3999(02)00428-2
  • Tubridy, N., Schon, F., Moss, A., Clarke, A., Cox, T., & Ferner, R. (2001). Hippocampal involvement in identical twins with neurofibromatosis type 1. Journal of Neurology, Neurosurgery, and Psychiatry, 71(1), 131–132. doi:10.1136/jnnp.71.1.131
  • Vogel, A. C., Gutmann, D. H., & Morris, S. M. (2017). Neurodevelopmental disorders in children with neurofibromatosis type 1. Developmental Medicine & Child Neurology, 59(11), 1112–1116. doi:10.1111/dmcn.13526
  • Wang, D. L., Smith, K. B., Esparza, S., Leigh, F. A., Muzikansky, A., Park, E. R., & Plotkin, S. R. (2012). Emotional functioning of patients with neurofibromatosis tumor suppressor syndrome. Journal of Genetics in Medicine, 14(12), 977–982. doi:10.1038/gim.2012.85
  • Wolkenstein, P., Zeller, J., Revuz, J., Ecosse, E., & Leplège, A. (2001). Quality-of-life impairment in neurofibromatosis type 1: A cross-sectional study of 128 cases. Archives of Dermatology, 137(11), 1421–1425. doi:10.1001/archderm.137.11.1421
  • Wu, Z., Schimmele, C. M., & Hou, F. (2015). Family structure, academic characteristics, and postsecondary education. Family Relations, 64(2), 205–220. doi:10.1111/fare.12112

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.