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

: FUNCIONAMENTO ADAPTATIVO EM CRIANCAS COM NEUROFIBROMATOSE TIPO 1: RELACAO COM COGNICAO, COMPORTAMENTO, E IMAGEM DE RESSONÂNCIA MAGNETICA: OBJETIVO: Caracterizar o comportamento adaptativo de criancas com neurofibromatose tipo 1 (NF1) e determinar sua relacao com funcionamento neuropsicologico e lesoes em T2 hiperintensas nao neoplasticas ao exame de ressonância magnetica (RM). METODO: Neste estudo transversal, revisamos retrospectivamente os relatorios neuropsicologicos de 104 criancas com NF1 (56 do sexo masculino, 48 do sexo feminino; media de idade 10a 4m; desvio padrao [DP] 3a 4m; variacao 3a 5m-17a6m), e extraimos dados de uma variedade de medidas cognitivas e comportamentais, incluindo o Sistema de Avaliacao do Comportamento Adaptativo (SACA). Imagens de RM cerebral foram retrospectivamente revisadas em 42 individuos. RESULTADOS: Os escores SACA foram distribuidos continuamente, e patologicamente deslocados em 0,79 a 1,26 DP nos dominios Conceitual, Social e Pratico, e 46,5 por cento dos individuos tiveram escore composto na faixa limitrofe ou deficiente. Deficiencias no comportamento adaptativo se correlacionaram com deficits na funcao executiva (r = −9,543, p < 0,001), problemas externalizantes (r = −0,366, p < 0,001), e atencao (r = −9,467, p = 0,001). Analise agrupada revelou tres subgrupos genotipicos distintos, um dos quais exibiu capacidade cognitiva normal, mas funcionamento adaptativo deficiente, e sintomatologia de transtorno de deficit de atencao e hiperatividade. Nao houve relacao entre escores SACA e o numero ou localizacao de objetos luminosos nao identificados. INTERPRETACAO: Deficits no funcionamento adaptativo sao comuns entre criancas com NF1 e sao associados com deficiencia em outros dominios cognitivos/comportamentais, independente da capacidade cognitiva geral. 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.