%0 Journal Article
%T Adaptive Behavior in Young Children with Neurofibromatosis Type 1
%A Bonita P. Klein-Tasman
%A Alina M. Colon
%A Natalie Brei
%A Faye van der Fluit
%A Christina L. Casnar
%A Kelly M. Janke
%A Donald Basel
%A Dawn H. Siegel
%A Jasmine A. Walker
%J International Journal of Pediatrics
%D 2013
%I Hindawi Publishing Corporation
%R 10.1155/2013/690432
%X 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 caf¨¦ 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¨C6]. 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¨C10]. 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 ˇ°the
%U http://www.hindawi.com/journals/ijpedi/2013/690432/