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

Abstract

Aim To characterize the adaptive behavior profile of children with neurofibromatosis type 1 (NF1) and determine its relationship to neuropsychological functioning and non‐neoplastic T2‐weighted hyperintense brain lesions on brain magnetic resonance imaging (MRI). Method In this cross‐sectional study, we retrospectively reviewed neuropsychological reports from 104 children with NF1 (56 males, 48 females; mean age 10y 4mo; standard deviation [SD] 3y 4mo; range 3y 5mo–17y 6mo), and extracted data from a range of cognitive and behavioral measures, including the Adaptive Behavior Assessment System (ABAS). Brain MRI was retrospectively reviewed in 42 individuals. Results Adaptive Behavior Assessment System scores were continuously distributed and pathologically shifted by 0.79 to 1.26SD across Conceptual, Social, and Practical domains, and 46.5% of individuals had a composite score in the borderline or impaired range. Impairment in adaptive functioning was correlated with deficits in executive function (r=–9.543, p<0.001), externalizing problems (r=−0.366, p<0.001), and attention (r=−9.467, p=0.001). Cluster analysis revealed three distinct phenotypic subgroups, one of which exhibited normal cognitive ability, but impaired adaptive functioning, with persistent deficits in executive function, behavioral problems, and attention‐deficit/hyperactivity disorder symptomatology. There was no relationship between ABAS scores and the number or location of unidentified bright objects. Interpretation Adaptive functioning deficits are common among children with NF1 and are associated with impairment in other cognitive/behavioral domains, independent of general cognitive ability. What this paper adds Deficits in adaptive behavior are common in children with neurofibromatosis type 1 (NF1). Poor adaptive functioning is associated with impairments in executive function, externalizing behaviors, and attention, regardless of cognitive ability. The presence or location of unidentified bright objects do not predict adaptive behavior skills in children with NF1.

Brain Tumors in NF1 Children: Influence on Neurocognitive and Behavioral Outcome

“…Another interesting result concerns the role of cognitive abilities in predicting behavioral problems: the presence of decreased intellectual abilities is associated to high level of externalizing behaviors; moreover, IQ revealed a significant factor influencing the extent of externalizing problems in addition to the presence of brain tumors. These data confirms that cognitive skills can be a facilitator of functional adaptation to the context and behavioral functioning in children with NF1 [44,45,46].…”

The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1

“…These aspects do not show a clear correlation with the disease severity according to the modified version of Riccardi medical severity scale. Of note however, this scale does not include cognitive and behavioral characteristics more directly involved in general adaptive functioning in daily-life [38].…”

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. They found mild reductions across Conceptual, Social and Practical skill domains.…”

“…Research has also indicated that thalamic T2H as well as volume abnormalities in the corpus callosum, putamen, and amygdala are specifically associated with cognitive deficits in NF1 [11,14]. Of note, studies looking into the number of T2 spots and how this relates to cognitive impairment have been inconsistently documented [15].…”

“…Overall, the level and type of functional impairment may vary depending on what period in life an individual is in (e.g., preschool, school aged, college, working adult, elderly). Across age groups, cognitive issues associated with NF1 have significant associated morbidities, including weaker adaptive skills [15]. Additional consequences of cognitive difficulties associated with NF1 include poorer academic achievement and overall reduced QoL [3].…”