Executive dysfunction in children with neurofibromatosis type 1 A study of action planning
Laboratory of Psychology, University of Angers, France.Journal of the International Neuropsychological Society (Impact Factor: 2.96). 11/2010; 16(6):1056-63. DOI: 10.1017/S135561771000086X
In this study, we tested the hypothesis that action planning is impaired in children with neurofibromatosis type 1 (NF1). Thirty-six children with NF1 were pair-matched to 36 healthy controls (HC) on age (range, 7-12 years), sex, and parental education level, and both groups were administered three action-planning tasks. To examine the relation of task performance to attention deficit hyperactivity disorder (ADHD), the NF1 group was divided into subsets of children who met or did not meet criteria for ADHD. Children with NF1 performed less well than HC on all planning tasks, and differences remained when controlling for IQ or a measure of visuospatial skill. Both the NF1 with ADHD subset and NF1 without ADHD subset performed more poorly than HC on two of the tasks, whereas only the NF1 with ADHD subset performed worse than HC on the third planning task. The results underscore the importance of evaluating executive function in children with NF1 and suggest that deficits in this domain may be only partially related to ADHD. Planning deficits in children with NF1 may be part of their cognitive phenotype. Identifying these deficits is relevant in determining factors contributing to learning problems and in developing appropriate interventions.
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- "Deficits in inhibition have most frequently been observed using several continuous performance tasks, which also require sustained attention and attentional shifting (Ferner et al., 1996, Gilboa et al., 2011; Huijbregts et al., 2010; Isenberg et al., 2013; Mautner et al., 2002; Rowbotham et al., 2009). In addition, problems with cognitive flexibility (Descheemaeker et al., 2005; Hofman et al. 1994; Rowbotham et al., 2009; Roy et al., 2014), verbal or spatial working memory (Champion et al., 2014; Ferner et al., 1996; Huijbregts et al., 2010; Payne et al., 2012; Rowbotham et al., 2009; Ullrich et al., 2010) as well as planning abilities (Galasso et al., 2014; Hofman et al., 1994; Hyman et al., 2005; Levine et al., 2006; Payne et al., 2011; Pride et al., 2010; Roy et al., 2010) have been demonstrated. However, no difficulties in fluency were previously reported in the NF1 literature, based mainly on verbal fluency tasks (Hofman et al., 1994; Hyman et al., 2005; Payne et al., 2011; Roy et al., 2014) with one study also demonstrating intact design fluency (Roy et al., 2014). "
ABSTRACT: The aim of this study was to provide a broad picture of Executive Functioning (EF) in NF1 children, while taking into account their lower average IQ and increased Autism Spectrum Disorder (ASD) symptoms. This was done by administering an extended battery of tasks and questionnaires, designed to reduce task impurity, that measures five EF domains (inhibition, cognitive flexibility, working memory, generativity and planning) in a laboratory setting and in daily life. Data are presented for 42 age- and gender-matched NF1, 52 typically developing, and 52 ASD children (8-18 years). Our results indicated that although EF is highly influenced by IQ and severity of ASD symptoms, EF deficits seem to be a core feature of NF1 and not merely a secondary effect of a lower IQ and/or increased ASD symptoms. However, additional research is needed to confirm these findings.
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- "Recent research has begun to investigate whether children with NF1 and comorbid ADHD represent a distinct subgroup within NF1, with qualitatively different areas of cognitive deficit , or whether the cognitive deficits associated with NF1 are merely exacerbated by comorbid ADHD. Several recent studies have found evidence that comorbid ADHD is associated with additional cognitive burden in areas already affected by NF1, including language (Pride et al. 2012), strategic planning (Roy et al. 2010), and academic achievement (Pride et al. 2012). However, findings on the relation between ADHD and the cognitive profile of NF1 have been variable. "
ABSTRACT: Despite well-accepted findings of a “downward shift” in intellectual functioning in children with neurofibromatosis type 1 (NF1), research has not examined the contribution of the individual indices in this lower performance on intelligence (IQ) measures. Although 30–50 % of children with NF1 meet criteria for a diagnosis of attention deficit/hyperactivity disorder (ADHD), research has not established the relation between ADHD and intellectual profiles in these children. To clarify these issues, this study examined the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) profiles of children with NF1, with and without comorbid ADHD, using a comparison group of children with developmental ADHD. We found that rather than an overall lowering of IQ, children with NF1 demonstrated an uneven intellectual profile. While verbal abilities were generally preserved, nonverbal, working memory, and processing speed abilities were lower than the population norms. Children with NF1 and comorbid ADHD showed significantly lower performance on tests of working memory than children with NF1 without ADHD or children with developmental ADHD. These results suggest that global intellect is inadequate in describing the cognitive phenotype in children with NF1 and that in children with NF1 comorbid ADHD may manifest as additional cognitive burden with respect to working memory.
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- "visuospatial functions, motor coordination, planning, organizational skills and reading/vocabulary) (Hofman et al., 1994; Hyman et al., 2005; Payne et al., 2011). This suggests a deficit in executive functions, which is consistent with more recent studies where a deficit in inhibitory control, working memory and cognitive flexibility as well as a global deficit in attention and executive functions were reported (Payne et al., 2011; Rowbotham et al., 2009; Roy et al., 2010). "
ABSTRACT: Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the developmental period. Currently the term intellectual disability is the preferred one. Although our understanding of the physiological basis of learning and learning disability is poor, a general idea is that such condition is quite permanent. However, investigations in animal models suggest that learning disability can be functional in nature and as such reversible through pharmacology or appropriate learning paradigms. A fraction of the cases of intellectual disability is caused by point mutations or deletions in genes that encode for proteins of the RAS/MAP kinase signaling pathway known as RASopathies. Here we examined the current understanding of the molecular mechanisms involved in this group of genetic disorders focusing in studies which provide evidence that intellectual disability is potentially treatable and curable. The evidence presented supports the idea that with the appropriate understanding of the molecular mechanisms involved, intellectual disability could be treated pharmacologically and perhaps through specific mechanistic-based teaching strategies.
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