Hostname: page-component-8448b6f56d-xtgtn Total loading time: 0 Render date: 2024-04-24T06:30:41.943Z Has data issue: false hasContentIssue false
  • English
  • Français

Cognitive and Psychosocial Phenotype of Young Children with Neurofibromatosis-1

Published online by Cambridge University Press:  15 November 2013

Bonita P. Klein-Tasman ,
Kelly M. Janke ,
Wen Luo ,
Christy L. Casnar ,
Scott J. Hunter ,
James Tonsgard ,
Pamela Trapane ,
Faye van der Fluit  and
Lorri A. Kais
Bonita P. Klein-Tasman*
Affiliation:
Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin
Kelly M. Janke
Affiliation:
Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin
Wen Luo
Affiliation:
Department of Educational Psychology, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin
Christy L. Casnar
Affiliation:
Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin
Scott J. Hunter
Affiliation:
Department of Pediatrics, Comer Children's Hospital, The University of Chicago Medicine, Chicago, Illinois
James Tonsgard
Affiliation:
Department of Pediatrics, Comer Children's Hospital, The University of Chicago Medicine, Chicago, Illinois
Pamela Trapane
Affiliation:
Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa
Faye van der Fluit
Affiliation:
Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin
Lorri A. Kais
Affiliation:
Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin
*
Correspondence and reprint requests to: Bonita P. Klein-Tasman, University of Wisconsin – Milwaukee, Department of Psychology, Milwaukee, Wisconsin 53211. E-mail: bklein@uwm.edu
Get access Rights & Permissions [Opens in a new window]

Abstract

Children with neurofibromatosis-1 (NF1), a neurodevelopmental disorder resulting from a mutation of the NF1 gene (17q11.2), often have difficulties with learning and attention, but there is little research in the early childhood years. In this study, the cognitive and psychosocial functioning of 40 young children with NF1 (ages 3 through 6) was examined and compared both to normative data and to a contrast group comprised of unaffected siblings and community members matched for age and socio-economic status (n = 37). Children with NF1 showed significantly weaker cognitive abilities across all domains and for the vast majority of subtests. Consistent with research in older children, a variety of patterns of intra-individual strength and weakness were present for young children with NF1. Few significant group differences in psychosocial functioning were observed, but the children with NF1 showed significantly greater functional communication problems than did the unaffected group. Overall, the results indicate that in participant groups matched for age and socioeconomic status, cognitive vulnerabilities are evident for close to half of young children with NF1, with some relations to psychosocial functioning, particularly functional communication, attention problems and social skills. (JINS, 2014, 1, 1–11)

Keywords

BehaviorAttentionCognitionCommunication disordersChild-preschoolGenetic diseasesInborn
Type
Research Articles
Information
Journal of the International Neuropsychological Society , Volume 20 , Issue 1 , January 2014 , pp. 88 - 98
Copyright
Copyright © The International Neuropsychological Society 2013 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Alloway, T.P., Gathercole, S.E., Kirkwood, H., Elliott, J. (2009). The cognitive and behavior characteristics of children with low working memory. Child Development, 80(2), 606–621. doi:10.1111/j.1467-8624.2009.01282.x CrossRefGoogle ScholarPubMed
Ansari, D., Donlan, C., Thomas, M.S.C., Ewing, S.A., Donlan, C., Peen, T., Karmiloff-Smith, A. (2003). What makes counting count? verbal and visuo-spatial contributions to typical and atypical number development. Journal of Experimental Child Psychology, 85(1), 50–62.CrossRefGoogle ScholarPubMed
Aunola, K., Leskinen, E., Lerkkanen, M.K., Nurmi, J.E. (2004). Developmental dynamics of math performance from preschool to grade 2. Journal of Educational Psychology, 96(4), 699–713.CrossRefGoogle Scholar
Baron, I.S., Erickson, K., Ahronovich, M.D., Baker, R., Litman, F.R. (2011). Cognitive deficit in preschoolers born late-preterm. Early Human Development, 87(2), 115–119. doi:10.1016/j.earlhumdev.2010.11.010 Google Scholar
Barton, B., North, K. (2004). Social skills of children with neurofibromatosis type 1. Developmental Medicine & Child Neurology, 46, 553–563.Google Scholar
Benjamini, Y., Hochberg, Y. (1995). Controlling the false discovery rate: A practical and powerful approach to multiple testing. Journal of the Royal Statistical Society. Series B (Methodological), 57, 291–300.Google Scholar
Bernstein, J.H. (2010). Developmental models in pediatric neuropsychology. (pp. 17–40). In S.E. Hunter & J. Donders (Eds.), Principles and practice of lifespan developmental neuropsychology. Cambridge, UK: Cambridge University Press.Google Scholar
Bishop, S.L., Guthrie, W., Coffing, M., Lord, C. (2011). Convergent validity of the Mullen Scales of Early Learning and the differential ability scales in children with autism spectrum disorders. American Journal on Intellectual and Developmental Disabilities, 116(5), 331–343. doi:10.1352/1944-7558-116.5.331 Google Scholar
Cohen, J. (1988). Statistical power analysis for the behavioral sciences (2nd ed.). New Jersey: Lawrence Erlbaum.Google Scholar
Costa, R.M. Silva, A.J. (2002). Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis-1. Journal of Child Neurology, 622–626.CrossRefGoogle ScholarPubMed
Cui, Y., Costa, R., Murphy, G., Murphy, G., Elgersma, Y., Zhu, Y., Gutmann, D. Silva, A. (2008). Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cell, 135(3), 549–560.CrossRefGoogle ScholarPubMed
Cutting, L.E., Clements, A.M., Lightman, A.D., Yerby-Hammack, P.D., Denckla, M.B. (2004). Cognitive profile of neurofibromatosis type 1: Rethinking nonverbal learning disabilities. Learning Disabilities Research & Practice, 19(3), 155–165.Google Scholar
Cutting, L.E., Koth, C.W., Denckla, M.B. (2000). How children with neurofibromatosis type 1 differ from “typical” learning disabled clinic attenders: Nonverbal learning disabilities revisited. Developmental Neuropsychology, 17(1), 29–47.Google Scholar
Descheemaecker, M.-J., Ghesquière, P., Symons, H., Fryns, J.P., Legius, E. (2005). Behavioural, academic, and neuropsychological profile of normally gifted neurofibromatosis type 1 children. Journal of Intellectual Disability Research, 41(1), 33–46.Google Scholar
Dilts, C.V., Carey, J.C., Kircher, J.C., Hoffman, R.O., Creel, D., Ward, K., Leonard, C.O. (1996). Children and adolescents with neurofibromatosis 1: A behavioral phenotype. Journal of Developmental and Behavioral Pediatrics, 17(4), 229–239.Google Scholar
Eldridge, R., Denckla, M.B., Bien, E., Myers, S., Kaiser-Kupfer, M.I., Pikus, A., Zasloff, M.A. (1989). Neurofibromatosis type 1 (Recklinghausen's disease). Neurologic and cognitive assessment with sibling controls. American Journal of Diseases of Children, 143(7), 833–837.Google Scholar
Eliason, M.J. (1986). Neurofibromatosis: Implications for learning and behavior. Journal of Developmental and Behavioral Pediatrics, 7(3), 175–179.Google Scholar
Elliot, C.D. (2007). Manual for the differential abilities scales – second edition. San Antonio, TX: The Psychological Corporation.Google Scholar
Ferner, R.E., Hughes, R.A., Weinman, J. (1996). Intellectual impairment in neurofibromatosis 1. Journal of Neurological Science, 138(1–2), 125–133.CrossRefGoogle ScholarPubMed
Genova, H., Hillary, F., Wylie, G., Rypma, B., Deluca, J. (2009). Examination of processing speed deficits in multiple sclerosis using functional magnetic resonance imaging. Journal of International Neuropsychological Society, 15, 383–393.CrossRefGoogle ScholarPubMed
Halberda, J. Feigenson, L. (2008). Developmental change in the acuity of the “number sense”: The approximate number system in 3-, 4-, 5-, and 6-year-olds and adults. Developmental Psychology, 44(5), 1457–1465.CrossRefGoogle ScholarPubMed
Hellwig-Brida, S., Daseking, M., Keller, F., Petermann, F., Goldbeck, L. (2011). Effects of methylphenidate on intelligence and attention components in boys with attention-deficit/hyperactivity disorder. Journal of Child and Adolescent Psychopharmacology, 21(3), 245–253.Google Scholar
Hofman, K.J., Harris, E.L., Bryan, R.N., Denckla, M.B. (1994). Neurofibromatosis type 1: The cognitive phenotype Journal of Pediatrics, 124(4), S1–8.CrossRefGoogle ScholarPubMed
Huijbregts, S.C., de Sonneville, L.M. (2011). Does cognitive impairment explain behavioral and social problems of children with neurofibromatosis type 1? Behavior Genetics, 41(3), 430–436.CrossRefGoogle ScholarPubMed
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.Google Scholar
Hyman, S.L., Shores, A., North, K.N. (2006). Learning disabilities in children with neurofibromatosis type 1: Subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Developmental Medicine and Child Neurology, 48(12), 973–977.Google Scholar
Johnson, N.S., Saal, H.M., Lovell, A.M., Schorry, E.K. (1999). Social and emotional problems in children with neurofibromatosis type 1: Evidence and proposed interventions. Journal of Pediatrics, 134(6), 767–772.Google Scholar
Jordan, N.C., Kaplan, D., Ramineni, C., Locuniak, M.N. (2009). Early math matters: Kindergarten number competence and later mathematics outcomes. Developmental Psychology, 45(3), 850–867.Google Scholar
Karmiloff-Smith, A. (2008). Research into Williams syndrome: the state of the art. In C. A. Nelson & M. Luciana (Eds.), Handbook of Developmental Cognitive Neuroscience – Second Edition. Cambridge, MA: MIT Press.Google Scholar
Kayl, A.E., Moore, B.D. (2000). Behavioral phenotype of neurofibromatosis, type 1. Mental Retardation and Developmental Disabilities Research Reviews, 6(2), 117–124.Google Scholar
Kayl, A.E., Moore, B.D. III, Slopis, J.M., Jackson, E.F., Leeds, N.E. (2000). Quantitative morphology of the corpus callosum in children with neurofibromatosis and attention-deficit hyperactivity disorder. Journal of Child Neurology, 15(2), 90–96.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
Lahey, B.B., Applegate, B., McBurnett, K., Biederman, J., Greenhill, L., Hynd, G.W., Richters, J. (1994). DSM-IV field trials for attention deficit hyperactivity disorder in children and adolescents. The American Journal of Psychiatry, 151(11), 1673–1685.Google Scholar
LeFevre, J., Fast, L., Skwarchuk, S., Smith-Chant, B., Bisanz, J., Kamawar, D., Penner-Wilger, M. (2010). Pathways to mathematics: Longitudinal predictors of performance. Child Development, 81(6), 1753–1767.Google Scholar
Legius, E., Descheemaeker, M.J., Steyaert, J., Spaepen, A., Vlietinck, R., Casaer, P., Fryns, J.P. (1995). Neurofibromatosis type 1 in childhood: Correlation of MRI findings with intelligence. Journal of Neurology, Neurosurgery, and Psychiatry, 59(6), 638–640.CrossRefGoogle ScholarPubMed
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, 8–20.Google Scholar
Lorenzo, J., Barton, B., Acosta, M., North, K. (2011). Mental, motor, and language development of toddlers with neurofibromatosis type 1. The Journal of Pediatrics, 158, 660–665.Google Scholar
Martin, S., Wolters, P., Baldwin, A., Gillespie, A., Dombi, E., Walker, K., Wildemann, B. (2012). Social-emotional functioning of children and adolescents with neurofibromatosis type 1 and plexiform neurofibromas: Relationships with cognitive, disease, and environmental variables. Journal of Pediatric Psychology, 37(7), 713–724.Google Scholar
Mautner, V., Kluwe, L., Thakker, S.D., Leark, R.A. (2002). Treatment of ADHD in neurofibromatosis type 1. Developmental Medicine & Child Neurology, 44, 164–170.Google Scholar
Mazzocco, M.M. Thompson, R.E. (2005). Kindergarten predictors of math learning disability. Learning Disabilities Research & Practice, 20(3), 142–155.Google Scholar
Mazzocco, M.M.M., Feigenson, L., Halberda, J. (2011). Impaired acuity of the approximate number system underlies mathematical learning disability (dyscalculia). Child Development, 82, 1224–1237.CrossRefGoogle ScholarPubMed
Mazzocco, M.M., Turner, J.E., Denckla, M.B., Hoffman, R.O., Scanlon, D., Vellutino, F. (1995). Language and reading deficits associated with neurofibromatosis type 1. Developmental Neuropsychology, 11, 503–522.Google Scholar
Moore, B.D., Denckla, M.B. (2000). Neurofibromatosis. In K. O. Yeates & M. D. Ris (Eds.), Pediatric neuropsychology: Research, theory, and practice (pp. 149–170). New York: Guilford.Google Scholar
Moore, B.D., Slopis, J.M., Schomer, D., Jackson, E.F., Levy, B.M. (1996). Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis. Neurology, 46(6), 1660–1668.Google Scholar
Noll, R.B., Reiter-Purtill, J., Moore, B.D., Schorry, E.K., Lovell, A.M., Vannatta, K., Gerhardt, C.A. (2007). Social, emotional, and behavioral functioning of children with NF1. American Journal of Medical Genetics A, 143A(19), 2261–2273.Google Scholar
North, K., Hyman, S., Barton, B. (2002). Cognitive deficits in neurofibromatosis 1. Journal of Child Neurology, 17(8), 605–612.Google Scholar
North, K., Joy, P., Yuille, D., Cocks, N., Mobbs, E., Hutchins, P., de Silva, (1994). Specific learning disability in children with neurofibromatosis type 1: Significance of MRI abnormalities. Neurology, 44(5), 878–883.Google Scholar
North, K., Joy, P., Yuille, D., Cocks, N., Hutchins, P. (1995). Cognitive function and academic performance in children with neurofibromatosis type 1. Developmental Medicine & Child Neurology, 37(5), 427–436.CrossRefGoogle ScholarPubMed
Ozonoff, S. (1999). Cognitive impairment in neurofibromatosis type 1. American Journal of Medical Genetics, 89(1), 45–52.Google Scholar
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.Google Scholar
Philip, R., Turk, J. (2006). Neurofibromatosis and attentional deficits: An illustrative example of the common association of medical causes with behavioural syndromes, implications for general child mental health services. Child and Adolescent Mental Health, 11(2), 89–93.Google Scholar
Pike, N. (2011). Using false discovery rates for multiple comparisons in ecology and evolution. Methods in Ecology and Evolution, 2, 278–282. doi:10.1111/j.2041-210X.2010.00061.x Google Scholar
Reynolds, C.R., Kamphaus, R.W. (2005). The Behavior Assessment System for Children Second Edition (BASC-2). Circle Pines, MN: American Guidance Service.Google Scholar
Sabol, A., Resic, B., Juraski, R., Sabol, F., Sizgoric, M., Orsolic, K., Grahova, D. (2011). Clinical sensitivity and specificity of multiple T2-hyperintensitites on brain magnetic resonance imaging in diagnosis of neurofibromatosis type 1 in children: Diagnostic accuracy study. Clinical Science, 52, 488–496.Google Scholar
Sangster, J., Shores, E.A., Watt, S., North, K. (2011). The cognitive profile of preschool-aged children with neurofibromatosis type 1. Child Neuropsychology, 17, 1–16.Google Scholar
Schneider, M., Krick, C., Retz, W., Hengesch, G., Retz-Junginger, P., Reith, W., Rosler, M. (2010). Impairment of fronto-striatal and parietal cerebral networks correlates with attention deficit hyperactivity disorder (ADHD) psychopathology in adults: A functional magnetic resonance imaging (fMRI) study. Psychiatry Research: Neuroimaging, 183, 75–84.CrossRefGoogle ScholarPubMed
Shilyansky, C., Karlsgodt, K.H., Cummings, D.M., Sidiropoulou, K., Hardt, M., James, A.S. Silva, A.J. (2010). Neurofibromin regulates corticostriatal inhibitory networks during working memory performance. Proceedings of the National Academy of Sciences of the United States of America, 107(29), 13141–13146.CrossRefGoogle ScholarPubMed
Smidts, D.P., Oosterlaan, J. (2007). How common are symptoms of ADHD in typically developing preschoolers? A study on prevalence rates and prenatal/demographic risk factors. Cortex, 43(6), 710–717.Google Scholar
Soucy, E.A., Gao, F., Gutmann, D.H., Dunn, C.M. (2012). Developmental delays in children with neurofibromatosis type 1. Journal of Child Neurology, 27(5), 641–644.Google Scholar
Wadsby, M., Lindehammar, H., Eeg-Olofsson, O. (1989). Neurofibromatosis in childhood: Neuropsychological aspects. Neurofibromatosis, 2(5-6), 251–260.Google Scholar
Wessel, L.E., Gao, F., Gutmann, D.H., Dunn, C.M. (2012). Longitudinal analysis of developmental delays in children with neurofibromatosis type 1. Journal of Child Neurology [Epub ahead of print].Google Scholar