Studies of age‐correlated features of cognitive‐behavioral development in children and adolescents with genetic disorders

Abstract

Studies of age-related features of cognitive-behavioral deficits produced by genetic mutations permit us to draw inferences about how brain development may be related cognitive ability as the child ages. Except for Down syndrome (DS) and the fragile X mutation (FRAXA), little is known about the longitudinal changes in cognitive-behavioral development in individuals with genetic abnormalities producing learning disabilities (LD) or mental retardation (MR). The purpose of this prospective study was to compare and contrast age related to cognitive abilities, adaptive and maladaptive behaviors in children and adolescents in the same age range, diagnosed with one of three genetic disorders: the FRAXA mutation, Neurofibromatosis type 1 (NF1) or Williams-Beuren syndrome (WBS). We also sought to examine whether cognitive-behavioral abilities associated with these three genetic disorders were related systematically to age. We examined 108 children, ages 4-15 years, with FRAXA, WBS, or NF1. Results show that there is a significant negative correlation between age and IQ, and between age and adaptive behavior (DQ) scores, in children with FRAXA and WBS, but not in children with NF1. All three groups of children have unusually high proportions of maladaptive behavior, ranging from 1/6 children with NF1 to 2/3 children with FRAXA. Cognitive and adaptive behavior profiles of children with FRAXA and WBS were also surprisingly similar. Our findings suggest the need for examining longitudinal developmental cognitive-behavioral changes in children and adolescents with all genetic disorders that produce LD or MR.

Longitudinal Profiles of Adaptive Behavior in Fragile X Syndrome

“…However, when standard scores were examined, 18 mean scores on the socialization domain were significantly higher than either the daily living or communication domains.…”

Cognitive‐behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size

“…Although the contour of adaptive behavior domains observed at T1 is no longer flat at T2, the relative strengths and weaknesses observed at T2 were not significantly different from one another. Unlike children with JBS at T1, male children with the FMR1 mutation-as well as children with WBS, or NF1, or WHS-exhibit significant differences in their respective adaptive behavior domain scores, with relative strengths in Communication and Socialization, and relative weakness in DLS [Fisch et al, 2007[Fisch et al, , 2012. When tested 2 years later, male children with the FMR1 mutation show a significantly lower adaptive behavior domain profile.…”

“…Unlike children with JBS, males with the FMR1 mutation show significant declines in overall IQ scores as they age [Fisch et al, 1996]. Also unlike children with JBS, males with the FMR1 mutation-as well as children with Williams-Beuren syndrome (WBS) or NF1-exhibit significant differences among the four SAS scores, with relative strengths in Verbal and Quantitative Reasoning, and relative weaknesses in Abstract-Visual Reasoning and STM [Fisch et al, 2007]. A similar profile of cognitive strengths and weaknesses was also found among children with WHS [Fisch et al, 2012].…”

Estresse em crianças e adolescentes com Síndrome de Williams-Beuren em idade escolar

“…Essa demanda de adequações provavelmente interferirá no desenvolvimento de habilidades adequadas de comunicação, socialização, realização de atividades da vida diária, desempenho acadêmico, dentre outras (Fish & Nance, 2007;Vicari, Bellucci, & Carlesimo, 2001). Pressupõe-se que exigências desajustadas, como padrões de comportamento, de argúcia e de aptidão contraditórias ao que se espera da deficiência intelectual, possam aumentar a vulnerabilidade de pessoas com SWB a reações de estresse, por suas condições clínicas.…”