Neurofibromatosis-1 is the most common single gene disorder affecting 1 in 3000. In children, it is associated not only with physical features but also with attention and learning problems. Research has identified a downward shift in intellectual functioning as well, but to date, there are no published studies about the everyday adaptive behavior of children with NF1. In this study, parental reports of adaptive behavior of 61 children with NF1 ages 3 through 8 were compared to an unaffected contrast group ( ) that comprised siblings and community members. Significant group differences in adaptive skills were evident and were largely related to group differences in intellectual functioning. In a subsample of children with average-range intellectual functioning, group differences in parent-reported motor skills were apparent even after controlling statistically for group differences in intellectual functioning. The implications of the findings for the care of children with NF1 are discussed. 1. Introduction Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder occurring in approximately 1 in 3000 live births. Mutation of the NF1 gene (chromosome 17q11.2), neurofibromin 1, results in activation of the RAS signaling pathway which has far-reaching effects in many cellular and neurodevelopmental processes [1]. As a tumor suppressor, reduced production of neurofibromin results in the characteristic tumors that define NF1. Common physical characteristics include café au lait spots, cutaneous or subcutaneous neurofibromas, axiliary freckling, and Lisch nodules, with diagnosis made based on physical characteristics [2]. About half of cases are inherited from a parent and about half are sporadic mutations. The disorder occurs equally in both males and females and in all ethnic groups. While physical complications exist in NF1, there are also psychological complications. Children with NF1 are at increased risk for cognitive, attention, and learning problems [3–6]. Features identified in individuals with NF1 include poor performance in the areas of Language Expression and comprehension, written language, reading accuracy, mathematics, and fine motor skills [7–10]. However, there has been little comprehensive examination of the functional impact of these difficulties in everyday life. The goal of this study is to evaluate the pattern of adaptive functioning in young children with NF1 as an indication of the functional impact of the difficulties seen in NF1. The American Association on Mental Retardation (AAMR) defines adaptive behavior as “the
References
[1]
M. T. Acosta, “The neurobiology of learning difficulties: neurofibromatosis type 1 as a model for researching and treating learning disorders,” Revista de Neurologia, vol. 44, supplement 2, pp. S3–S8, 2007.
[2]
R. E. Ferner, S. M. Huson, N. Thomas et al., “Guidelines for the diagnosis and management of individuals with neurofibromatosis,” Journal of Medical Genetics, vol. 44, no. 2, pp. 81–88, 2007.
[3]
V. M. Riccardi, “The multiple forms of neurofibromatosis,” Pediatrics in Review, vol. 3, no. 9, pp. 293–298, 1982.
[4]
M. J. Eliason, “Neurofibromatosis: implications for learning and behavior,” Journal of Developmental and Behavioral Pediatrics, vol. 7, no. 3, pp. 175–179, 1996.
[5]
B. D. Moore and M. B. Denckla, “Neurofibromatosis,” in Pediatric Neuropsychology: Research, Theory, and Practice, K. O. Yeates and M. D. Ris, Eds., pp. 149–170, Guilford, New York, NY, USA, 2000.
[6]
K. N. North, “Cognitive function and academic performance,” in Neurofibromatosis: Phenotype, Natural History, and Pathogenesis, J. M. Friedman, D. H. Gutmann, and M. MacCollin, Eds., Johns Hopkins, Baltimore, Md, USA, 1999.
[7]
K. North, S. Hyman, and B. Barton, “Cognitive deficits in neurofibromatosis 1,” Journal of Child Neurology, vol. 17, no. 8, pp. 605–612, 2002.
[8]
K. N. North, V. Riccardi, C. Samango-Sprouse et al., “Cognitive function and academic performance in neurofibromatosis 1: consensus statement from the NF1 cognitive disorders task force,” Neurology, vol. 48, no. 4, pp. 1121–1127, 1997.
[9]
S. L. Hyman, E. A. Shores, and K. N. North, “Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder,” Developmental Medicine and Child Neurology, vol. 48, no. 12, pp. 973–977, 2006.
[10]
M. M. Mazzocco, J. E. Turner, M. B. Denckla, R. O. Hoffman, D. Scanlon, and F. Vellutino, “Language and reading deficits associated with neurofibromatosis type 1,” Developmental Neuropsychology, vol. 11, no. 4, pp. 503–522, 1995.
[11]
R. Luckasson, R. Luckasson, S. Borthwick-Duffy, et al., Mental Retardation: Definition, Classification, and Systems of Supports, 10th edition, 2002.
[12]
J. M. Sattler and R. D. Hoge, Assessment of Children: Behavioral, Social and Clinical Foundations, Jerome Sattler, La Mesa, Calif, USA, 2006.
[13]
R. H. Bruininks, R. W. Woodcock, R. F. Weatherman, and B. K. Hill, Scales of Independent Behavior—Revised, Riverside, Itasca, Ill, USA, 1996.
[14]
J. A. Clausen, “Mental deficiency: development of a concept,” American Journal of Mental Deficiency, vol. 71, pp. 727–745, 1967.
[15]
C. V. Dilts, J. C. Carey, J. C. Kircher et al., “Children and adolescents with neurofibromatosis 1: a behavioral phenotype,” Journal of Developmental and Behavioral Pediatrics, vol. 17, no. 4, pp. 229–239, 1996.
[16]
T. M. Achenbach, Manual For the Child Behavior Checklist/4-18 and Profile, University of Vermont Department of Psychiatry, Burlington, Vt, USA, 1991.
[17]
B. Barton and K. North, “Social skills of children with neurofibromatosis type 1,” Developmental Medicine and Child Neurology, vol. 46, no. 8, pp. 553–563, 2004.
[18]
B. Doll, “Review of Child Behavior Checklist,” April 2013.
[19]
S. L. Hyman, D. S. Gill, E. A. Shores et al., “Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1,” Neurology, vol. 60, no. 7, pp. 1139–1145, 2003.
[20]
S. L. Hyman, A. Shores, and K. N. North, “The nature and frequency of cognitive deficits in children with neurofibromatosis type 1,” Neurology, vol. 65, no. 7, pp. 1037–1044, 2005.
[21]
J. Lorenzo, B. Barton, M. T. Acosta, and K. North, “Mental, motor, and language development of toddlers with neurofibromatosis type 1,” Journal of Pediatrics, vol. 158, no. 4, pp. 660–665, 2011.
[22]
J. Sangster, E. A. Shores, S. Watt, and K. N. North, “The cognitive profile of preschool-aged children with neurofibromatosis type 1,” Child Neuropsychology, vol. 17, no. 1, pp. 1–16, 2011.
[23]
H. L. Thompson, D. H. Viskochil, D. A. Stevenson, and K. L. Chapman, “Speech-language characteristics of children with neurofibromatosis type 1,” American Journal of Medical Genetics A, vol. 152, no. 2, pp. 284–290, 2010.
[24]
S. Huijbregts, R. Jahja, L. de Sonneville, S. de Breij, and H. Swaab-Barneveld, “Social information processing in children and adolescents with neurofibromatosis type 1,” Developmental Medicine and Child Neurology, vol. 52, no. 7, pp. 620–625, 2010.
[25]
R. B. Noll, J. Reiter-Purtill, B. D. Moore et al., “Social, emotional, and behavioral functioning of children with NF1,” American Journal of Medical Genetics A, vol. 143, no. 19, pp. 2261–2273, 2007.
[26]
A. Graf, M. A. Landolt, A. C. Mori, and E. Boltshauser, “Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1,” Journal of Pediatrics, vol. 149, no. 3, pp. 348–353, 2006.
[27]
Y. Gilboa, N. Josman, A. Fattal-Valevski, H. Toledano-Alhadef, and S. Rosenblum, “The handwriting performance of children with NF1,” Research in Developmental Disabilities, vol. 31, no. 4, pp. 929–935, 2010.
[28]
K. J. Hofman, E. L. Harris, R. N. Bryan, and M. B. Denckla, “Neurofibromatosis type 1: the cognitive phenotype,” Journal of Pediatrics, vol. 124, no. 4, pp. S1–S8, 1994.
[29]
B. A. Johnson, B. A. MacWilliams, J. C. Carey, D. H. Viskochil, J. L. D'Astous, and D. A. Stevenson, “Motor proficiency in children with neurofibromatosis type 1,” Pediatric Physical Therapy, vol. 22, no. 4, pp. 344–348, 2010.
[30]
K. N. North, “Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic,” Journal of Child Neurology, vol. 8, no. 4, pp. 395–402, 1993.
[31]
J. Reiter-Purtill, E. K. Schorry, A. M. Lovell, K. Vannatta, C. A. Gerhardt, and R. B. Noll, “Parental distress, family functioning, and social support in families with and without a child with neurofibromatosis 1,” Journal of Pediatric Psychology, vol. 33, no. 4, pp. 422–434, 2008.
[32]
C. D. Elliot, Manual for the Differential Abilities Scales—Second Edition, The Psychological Corporation, San Antonio, Tex, USA, 2nd edition, 2007.
[33]
J. M. Sattler, R. Dumont, J. O. Willis, and J. D. Salerno, “Chapter 17: differential ability scales—second edition,” in Assessment of Children: Cognitive Foundations, J. M. Sattler, Ed., pp. 605–675, Jerome M. Sattler, 5th edition, 2010.
[34]
M. Dennis, D. J. Francis, P. T. Cirino, R. Schachar, M. A. Barnes, and J. M.-J. M. Fletcher, “Why IQ is not a covariate in cognitive studies of neurodevelopmental disorders,” Journal of the International Neuropsychological Society, vol. 15, no. 3, pp. 331–343, 2009.
[35]
A. Lehtonen, E. Howie, D. Trump, and S. M. Huson, “Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence,” Developmental Medicine & Child Neurology, vol. 55, pp. 111–125, 2013.
[36]
K. N. North, “Neurofibromatosis 1 in childhood,” Seminars in Pediatric Neurology, vol. 5, no. 4, pp. 231–242, 1998.
