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.)

scholarly journals Lower fasting blood glucose in neurofibromatosis type 1

2016 ◽  
Vol 5 (1) ◽  
pp. 28-33 ◽  
Author(s):  
Aline Stangherlin Martins ◽  
Ann Kristine Jansen ◽  
Luiz Oswaldo Carneiro Rodrigues ◽  
Camila Maria Matos ◽  
Marcio Leandro Ribeiro Souza ◽  
...  
Keyword(s):  
Blood Glucose ◽  
Neurofibromatosis Type 1 ◽  
Fasting Blood Glucose ◽  
Neurofibromatosis Type ◽  
Control Group ◽  
Adult Health ◽  
Main Criterion ◽  
Clinical Records ◽  
Age Range

Studies indicate a lower occurrence of diabetes mellitus (DM) in patients with neurofibromatosis type 1 (NF1). Fasting blood glucose (FBG) level is the main criterion used to diagnose DM and glucose intolerance. Therefore, this study compared FBG level between adults with NF1 and non-NF1 controls. We selected clinical records of 57 out of 701 individuals attending the Neurofibromatosis Outpatient Reference Center of the Clinics Hospital of the Federal University of Minas Gerais in Brazil. The selected patients with NF1 were matched to non-NF1 controls selected from the Brazilian Longitudinal Study of Adult Health according to sex, age (range, 35–74 years) and BMI at a ratio of 1:3. In both groups, individuals with DM were excluded. Median FBG level in the NF1 group (86 mg/dl (range, 56–127 mg/dl)) was lower than that in the non-NF1 control group (102 mg/dl (range, 85–146 mg/dl)) (P<0.001). Prevalence of FBG level ≥100 mg/dl in the NF1 group (16%) was lower than that in the non-NF1 control group (63%) (P<0.05). The chance of a high FBG level was 89% lower in the NF1 group (odds ratio, 0.112; 95% CI, 0.067–0.188) (P<0.05). In conclusion, adults with NF1 showed a lower FBG level and a lower prevalence of high FBG level compared with non-NF1 controls.

Psychosocial and Socioeconomic Factors in Children with Neurofibromatosis Type 1

2021 ◽  
Author(s):  
Katalin Leppich ◽  
Joanna Schneider ◽  
Angela M. Kaindl ◽  
Caroline Eismann ◽  
Monika Ryczek ◽  
...  
Keyword(s):  
Socioeconomic Factors ◽  
Developmental Delay ◽  
Neurofibromatosis Type 1 ◽  
Parental Education ◽  
Neurofibromatosis Type ◽  
Autism Spectrum ◽  
Learning Disorders ◽  
Low Education ◽  
Sporadic Cases

AbstractThe aim of this study is to analyze whether children with familial and sporadic neurofibromatosis type 1 (NF1) differ in psychosocial and socioeconomic aspects such as developmental delay as well as in comorbidities. Medical records of 250 children with NF1 at a median age of 10.6 years (range = 2–20 years at time of data collection) were retrospectively reviewed. Specifically, psychosocial and socioeconomic factors from 88 children with a family history for NF1 and 162 sporadic cases were compared. Comparing IQ, familial cases scored significantly lower than sporadic cases (89.8 vs. 96.5; p = 0.015). IQ scores of children with familial and sporadic NF1 differ depending on level of parental education (mean IQ for high education 101.3 [familial] and 102.8 [sporadic] vs. low education 87.5 [familial] and 90.4 [sporadic]; p < 0.001). No significant differences were found regarding the presence of developmental delay, learning disorders, autism spectrum disorder, or attention deficit hyperactivity disease. Children with inherited NF1 had a significantly lower IQ than sporadic cases. Children with familial NF1 more often had parents with a lower level of education, highlighting a possible impact of NF1 through generations. Also, the present study confirmed previous results in literature regarding high frequencies of learning disabilities, autism spectrum disease, and attention deficits in children with NF1.

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)

Neurofibromatosis Type 1 of the head and neck: dilemmas in management

2001 ◽  
Vol 115 (2) ◽  
pp. 151-154 ◽  
Author(s):  
Fernando Rapado ◽  
Ricard Simo ◽  
Mike Small
Keyword(s):  
Head And Neck ◽  
Malignant Transformation ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Assessment And Monitoring ◽  
Abnormal Bleeding ◽  
Age Range ◽  
Dominant Condition

Neurofibromatosis type 1 (NF 1) or Von Recklinghausen’s disease is an autosomal dominant condition characterized by multiple skin cafe´-au-lait lesions and multiple neurofibromas. In the head and neck neurofibromas have a predilection to arise in th deep planes of the neck. Surgical management is nearly always required for functional or cosmetic reasons or to exclude the possibility of malignant transformation. We present four cases of neurofibroma of the head and neck and illustrate the difficulties inherent in managing this condition, particularly the age range in which it may occur, the risk of malignant transformation, the possibility of abnormal bleeding and the morbidity that may be associated with the surgical resection. The role of magnetic resonance (MR) scan in the assessment and monitoring of these lesions is highlighted. We also report a unique association of a pharyngeal pouch with NF 1 in a young (25-year-old) patient.

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)

scholarly journals Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1

2021 ◽  
pp. 108705472110120
Author(s):  
Jesminne Castricum ◽  
Joke H. M. Tulen ◽  
Walter Taal ◽  
André B. Rietman ◽  
Ype Elgersma
Keyword(s):  
Motor Learning ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Clinical Importance ◽  
Neurofibromatosis Type ◽  
Learning Problems ◽  
Control Group ◽  
Intellectual Performance ◽  
Neuropsychological Tasks

Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that is associated with cognitive disabilities, including attention and motor learning problems. These disabilities have been extensively studied in children with NF1 but limited studies have been performed in adults. Method: Attention, motor learning and intellectual performance were studied with neuropsychological tasks in 32 adults with NF1 and 32 controls. Results: The NF1 and control group performed similarly on attention and motor learning tasks, although controls had shorter reaction times than adults with NF1 during the motor learning task ( t[60] = −2.20, p = .03). Measures of attention or motor learning were not significantly associated with reduced intellectual performance in NF1. Conclusion: In contrast to many studies in children with NF1, our findings did not provide evidence for presence of attention or motor learning problems in adults with NF1 in neuropsychological tasks. Our observations may be of clinical importance to determine treatment focus in adults with NF1.

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
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