Atypical Local Interference Affects Global Processing in Children with Neurofibromatosis Type 1

2017 ◽  
Vol 23 (5) ◽  
pp. 446-450
Author(s):  
Jonathan M. Payne ◽  
Melanie A. Porter ◽  
Samantha Bzishvili ◽  
Kathryn N. North
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Visual Information ◽  
Executive Dysfunction ◽  
Neurofibromatosis Type ◽  
Error Rates ◽  
Global Perspective ◽  
Global Processing ◽  
Typically Developing ◽  
Global Shape

AbstractObjectives: To examine hierarchical visuospatial processing in children with neurofibromatosis type 1 (NF1), a single gene disorder associated with visuospatial impairments, attention deficits, and executive dysfunction. Methods: We used a modified Navon paradigm consisting of a large “global” shape composed of smaller “local” shapes that were either congruent (same) or incongruent (different) to the global shape. Participants were instructed to name either the global or local shape within a block. Reaction times, interference ratios, and error rates of children with NF1 (n=30) and typically developing controls (n=24) were compared. Results: Typically developing participants demonstrated the expected global processing bias evidenced by a vulnerability to global interference when naming local stimuli without a cost of congruence when naming global stimuli. NF1 participants, however, experienced significant interference from the unattended level when naming both local and global levels of the stimuli. Conclusions: Findings suggest that children with NF1 do not demonstrate the typical human bias of processing visual information from a global perspective. (JINS, 2017, 23, 446–450)

Executive dysfunction in children with neurofibromatosis type 1: A study of action planning

2010 ◽  
Vol 16 (6) ◽  
pp. 1056-1063 ◽  
Author(s):  
ARNAUD ROY ◽  
JEAN-LUC ROULIN ◽  
VALERIE CHARBONNIER ◽  
PHILIPPE ALLAIN ◽  
LUCIANO FASOTTI ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Parental Education ◽  
Action Planning ◽  
Executive Dysfunction ◽  
Neurofibromatosis Type ◽  
Learning Problems ◽  
Parental Education Level ◽  
Determining Factors ◽  
Age Range

AbstractIn 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. (JINS, 2010, 16, 1056–1063.)

Executive Dysfunction in Neurofibromatosis Type 1: Comparison to Idiopathic ADHD

2015 ◽  
Vol 46 (S 01) ◽  
Author(s):  
M. Heimgärtner ◽  
S. Granström ◽  
V. Mautner ◽  
K. Lidzba
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Executive Dysfunction ◽  
Neurofibromatosis Type

scholarly journals Systematic Review and Meta-analysis of Executive Functions in Preschool and School-Age Children With Neurofibromatosis Type 1

2018 ◽  
Vol 24 (9) ◽  
pp. 977-994 ◽  
Author(s):  
Marie-Laure Beaussart ◽  
Sébastien Barbarot ◽  
Claire Mauger ◽  
Arnaud Roy
Keyword(s):  
Working Memory ◽  
Problem Solving ◽  
Inhibitory Control ◽  
Cognitive Flexibility ◽  
Neurofibromatosis Type 1 ◽  
Meta Analysis ◽  
Executive Dysfunction ◽  
Neurofibromatosis Type ◽  
Planning Problem

AbstractObjectives:Neurofibromatosis type 1 (NF1) is a genetic disorder in which the most frequent complication in children is learning disabilities. Over the past decade, growing arguments support the idea that executive dysfunction is a core deficit in children with NF1. However, some data remain inconsistent. The aim of this study was to determine the magnitude of impairment for each executive function (EF) and clarify the impact of methodological choices and participant’s characteristics on EFs.Methods:In this meta-analysis, 19 studies met the selection criteria and were included with data from a total of 805 children with NF1 and 667 controls. Based on the Diamond’s model (2013), EF measures were coded separately according to the following EF components: working memory, inhibitory control, cognitive flexibility, planning/problem solving. The review protocol was registered with PROSPERO (International prospective register of systematic reviews; CRD42017068808).Results:A significant executive dysfunction in children with NF1 is demonstrated. Subgroup analysis showed that the impairment varied as a function of the specific component of executive functioning. The effect size for working memory and planning/problem solving was moderate whereas it was small for inhibitory control and cognitive flexibility. Executive dysfunction seems to be greater with increasing age whereas assessment tool type, intellectual performance, attention deficit hyperactivity disorder and control group composition did not seem to affect EF results.Conclusions:EF deficits are a core feature in children with NF1 and an early identification of executive dysfunctions is essential to limit their impact on the quality of life. (JINS, 2018,24, 977–994)

Examining the frontal subcortical brain vulnerability hypothesis in children with neurofibromatosis type 1: Are T2-weighted hyperintensities related to executive dysfunction?

2015 ◽  
Vol 29 (3) ◽  
pp. 473-484 ◽  
Author(s):  
Arnaud Roy ◽  
Sébastien Barbarot ◽  
Valérie Charbonnier ◽  
Marie Gayet-Delacroix ◽  
Jean-François Stalder ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Executive Dysfunction ◽  
Neurofibromatosis Type ◽  
Subcortical Brain ◽  
Vulnerability Hypothesis

The Key Search Subtest of the Behavioural Assessment of the Dysexecutive Syndrome in Children (BADS-C) Instrument Reveals Impaired Planning Without External Constraints in Children With Neurofibromatosis Type 1

2016 ◽  
Vol 32 (4) ◽  
pp. 387-396 ◽  
Author(s):  
Daria Riva ◽  
Chiara Vago ◽  
Alessandra Erbetta ◽  
Veronica Saletti ◽  
Silvia Esposito ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Search Pattern ◽  
Self Organization ◽  
Typically Developing ◽  
Typically Developing Children ◽  
Dysexecutive Syndrome ◽  
Signal Characteristics ◽  
Behavioural Assessment

Studies of executive function and its relationship with brain T2-weighted hyperintensities in children with neurofibromatosis type 1 (NF1) have yielded inconsistent results. We examined 16 children with NF1 aged 8 to 15 years, of normal intelligence, and compared their findings to those of 16 siblings and 16 typically developing children using the Behavioural Assessment of the Dysexecutive Syndrome in Children (BADS-C). NF1 patients had an adequate overall score at BADS-C, but showed significantly lower performance than typical peers in the Key Search subtest. This is a task that must be solved without any given rules, in which subjects must devise a strategy and an efficient search pattern transferable to other similar real situations. The Key Search scores were not correlated with number and signal characteristics of T2-weighted hyperintensities. Planning without external indications is impaired in children with NF1 because they have to rely entirely on self-organization and monitoring; this study provides information for remediation programs designed to improve functioning in daily life.

scholarly journals Delineating the autistic phenotype in children with neurofibromatosis type 1

2022 ◽  
Vol 13 (1) ◽  
Author(s):  
Anita K. Chisholm ◽  
Kristina M. Haebich ◽  
Natalie A. Pride ◽  
Karin S. Walsh ◽  
Francesca Lami ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Social Communication ◽  
Strong Support ◽  
Executive Dysfunction ◽  
Neurofibromatosis Type ◽  
Autism Spectrum ◽  
Future Research ◽  
Study Cohort ◽  
Child Characteristics

Abstract Background Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics. Methods Participants were drawn from a larger cross-sectional study examining autism in children with NF1. The population analysed in this study scored above threshold on the Social Responsiveness Scale-Second Edition (T-score ≥ 60; 51% larger cohort) and completed the Autism Diagnostic Interview-Revised (ADI-R) and/or the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). All participants underwent evaluation of their intellectual function, and behavioural data were collected via parent questionnaires. Results The study cohort comprised 68 children (3–15 years). Sixty-three per cent met the ADOS-2 ‘autism spectrum’ cut-off, and 34% exceeded the more stringent threshold for ‘autistic disorder’ on the ADI-R. Social communication symptoms were common and wide-ranging, while restricted and repetitive behaviours (RRBs) were most commonly characterised by ‘insistence on sameness’ (IS) behaviours such as circumscribed interests and difficulties with minor changes. Autistic behaviours were weakly correlated with hyperactive/impulsive attention deficit hyperactivity disorder (ADHD) symptoms but not with inattentive ADHD or other behavioural characteristics. Language and verbal IQ were weakly related to social communication behaviours but not to RRBs. Limitations Lack of genetic validation of NF1, no clinical diagnosis of autism, and a retrospective assessment of autistic behaviours in early childhood. Conclusions Findings provide strong support for elevated autistic behaviours in children with NF1. While these behaviours were relatively independent of other NF1 comorbidities, the importance of taking broader child characteristics into consideration when interpreting data from autism-specific measures in this population is highlighted. Social communication deficits appear similar to those observed in idiopathic autism and are coupled with a unique RRB profile comprising prominent IS behaviours. This autistic phenotype and its relationship to common NF1 comorbidities such as anxiety and executive dysfunction will be important to examine in future research. Current findings have important implications for the early identification of autism in NF1 and clinical management.

Sign in / Sign up

Export Citation Format

Share Document