Adaptive Behavior in Young Children with Neurofibromatosis Type 1

Abstract

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 (n = 55) 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.

Adaptive functioning in children with neurofibromatosis type 1: relationship to cognition, behavior, and magnetic resonance imaging

“…Adaptability affects all areas of early childhood development and has been closely linked to long‐term functional outcomes for many neurodevelopmental disorders, such as intellectual disability (wherein deficits in adaptive behavior are, by definition, criteria for diagnosis), autism spectrum disorder, and attention‐deficit/hyperactivity disorder (ADHD) . While a few reports have demonstrated reductions in adaptive functioning in children with NF1 compared to unaffected siblings and peers, very little is currently known about the adaptive behavior profiles in this at‐risk population.…”

Cognitive Issues Experienced by Individuals Living with Neurofibromatosis

“…Several studies have noted adaptive deficits in children with NF1 [15,62]. In a cross sectional study of 104 children with NF1, Eby et al [15] found that 46.5 percent of their sample demonstrated adaptive functioning impairment.…”

Desmistificando a Neurofibromatose Tipo 1 Na Infância: Artigo De Revisão

“…Além disso, o conhecimento de possíveis diagnósticos diferenciais se faz necessário, pois muitas doenças apresentam um quadro clínico semelhante ao da NF1, como por exemplo, a própria Neurofibromatose do tipo 2 e a Schwannomatose, a síndrome de Legius, alguns lipomas, Síndrome de Proteus, Síndrome de Klippel -Trenauny -Weber, Síndrome de McCune -Albright 20 . Dessa forma, é imprescindível que médicos e demais profissionais que trabalham com crianças com NF1 tenham um amplo conhecimento da doença, seus mecanismos de ação, complicações, apresentações clínicas, para que o melhor tipo de tratamento seja escolhido 21 .…”