scholarly journals Effects of methylphenidate on cognition and behaviour in children with neurofibromatosis type 1: a study protocol for a randomised placebo-controlled crossover trial

BMJ Open ◽  
2018 ◽  
Vol 8 (8) ◽  
pp. e021800 ◽  
Author(s):  
Natalie A Pride ◽  
Belinda Barton ◽  
Paul Hutchins ◽  
David R Coghill ◽  
Mayuresh S Korgaonkar ◽  
...  
Keyword(s):  
Working Memory ◽  
Neurofibromatosis Type 1 ◽  
Performance Test ◽  
Spatial Working Memory ◽  
Memory Task ◽  
Neurofibromatosis Type ◽  
Fine Motor ◽  
Mouse Strains ◽  
Adhd Symptoms

IntroductionDopamine dysregulation has been identified as a key modulator of behavioural impairment in neurofibromatosis type 1 (NF1) and a potential therapeutic target. Preclinical research demonstrates reduced dopamine in the brains of genetically engineered NF1 mouse strains is associated with reduced spatial-learning and attentional dysfunction. Methylphenidate, a stimulant medication that increases dopaminergic and noradrenergic neurotransmission, rescued the behavioural and dopamine abnormalities. Although preliminary clinical trials have demonstrated that methylphenidate is effective in treating attention deficit hyperactivity disorder (ADHD) symptoms in children with NF1, its therapeutic effect on cognitive performance is unclear. The primary aim of this clinical trial is to assess the efficacy of methylphenidate for reducing attention deficits, spatial working memory impairments and ADHD symptoms in children with NF1.Methods and analysisA randomised, double-blind, placebo-controlled trial of methylphenidate with a two period crossover design. Thirty-six participants with NF1 aged 7–16 years will be randomised to one of two treatment sequences: 6 weeks of methylphenidate followed by 6 weeks of placebo or; 6 weeks of placebo followed by 6 weeks of methylphenidate. Neurocognitive and behavioural outcomes as well as neuroimaging measures will be completed at baseline and repeated at the end of each treatment condition (week 6, week 12). Primary outcome measures are omission errors on the Conners Continuous Performance Test-II (attention), between-search errors on the Spatial Working Memory task from the Cambridge Neuropsychological Test Automated Battery (spatial working memory) and the Inattentive and Hyperactivity/Impulsivity Symptom Scales on the Conners 3-Parent. Secondary outcomes will examine the effect of methylphenidate on executive functions, attention, visuospatial skills, behaviour, fine-motor skills, language, social skills and quality of life.Ethics and disseminationThis trial has hospital ethics approval and the results will be disseminated through peer-reviewed publications and international conferences.Trial registration numberACTRN12611000765921.

scholarly journals Risk Factors for Bullying Victimization in Children with Neurofibromatosis Type 1 (NF1)

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 145
Author(s):  
Peter L. Stavinoha ◽  
Cody Solesbee ◽  
Susan M. Swearer ◽  
Steven Svoboda ◽  
Laura J. Klesse ◽  
...  
Keyword(s):  
Risk Factors ◽  
Neurofibromatosis Type 1 ◽  
Significant Risk ◽  
Significant Risk Factor ◽  
Neurofibromatosis Type ◽  
Parent Report ◽  
Self Report ◽  
Bullying Victimization ◽  
Adhd Symptoms

Neurofibromatosis type 1 (NF1) is an autosomal disorder associated with numerous physical stigmata. Children with NF1 are at known risk for attention-deficit/hyperactivity disorder (ADHD), academic struggles, and significant social difficulties and adverse social outcomes, including bullying victimization. The primary aim of this study was to identify risk factors associated with bullying victimization in children with NF1 to better inform clinicians regarding targets for prevention and clinical intervention. Children and a parent completed questionnaires assessing the bully victim status, and parents completed a measure of ADHD symptoms. Analyses were completed separately for parent-reported victimization of the child and the child’s self-report of victimization. According to the parent report, results suggest ADHD symptoms are a significant risk factor for these children being a target of bullying. Findings for academic disability were not conclusive, nor were findings related to having a parent with NF1. Findings indicate the need for further research into possible risk factors for social victimization in children with NF1. Results provide preliminary evidence that may guide clinicians working with children with NF1 and their parents in identifying higher-risk profiles that may warrant earlier and more intensive intervention to mitigate later risk for bullying victimization.

Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention

2021 ◽  
pp. 088307382098127
Author(s):  
Maëlle Biotteau ◽  
Elodie Tournay ◽  
Eloise Baudou ◽  
Sandrine Destarac ◽  
Stéphanie Iannuzzi ◽  
...  
Keyword(s):  
Reading Comprehension ◽  
Neurofibromatosis Type 1 ◽  
Child Behavior Checklist ◽  
Sentence Comprehension ◽  
Performance Test ◽  
Neurofibromatosis Type ◽  
Reading Level ◽  
Multimodal Assessment ◽  
The Impact

Attention span, which has been shown to have an impact on reading quality in many other conditions, is one of the main cognitive disorders of neurofibromatosis type 1 (NF1). The aim of this work is to observe the impact of attention on reading comprehension, in NF1 and non-NF1 children. A multicenter, cross-sectional study was conducted on 150 children (8-12 years old) with or without NF1 (75 NF1 vs 75 non-NF1; 72 female, 78 male), matched for age, sex, handedness, and reading level, thus forming a continuum from good to poor readers in both NF1 and non-NF1 groups. Children with intellectual deficiency or neurologic or psychiatric disorder were excluded. Attentional skills were assessed by combining a parent questionnaire (Child Behavior CheckList) and a performance-based assessment (Conner’s Continuous Performance Test–Second Edition). Reading comprehension was assessed through a standardized reading comprehension test (ORLEC Lobrot). The performance-based attention scores were associated with text and sentence comprehension ability ( P = .0235 and P = .0164, respectively), while indirect questionnaire attention scores were only associated with sentence comprehension ( P = .0263). For both groups, the correlations between questionnaire and performance-based measures were low. We have shown that reading comprehension is greatly influenced by attention in NF1 and non-NF1, even if predictors of good reading comprehension also include IQ score and reading accuracy. Indirect observer-rated questionnaires and direct performance-based measures of attention do not assess the same variables, are linked to different components of reading skills, and are not interchangeable assessments of attention difficulties. Both assessments are complementary and must be used simultaneously, leading to recommendations that support multimodal assessment of attention.

scholarly journals Acute hyperglycemia and spatial working memory in adolescents with type 1 diabetes

2020 ◽  
Author(s):  
Jasna Šuput Omladič ◽  
Anka Slana Ozimič ◽  
Andrej Vovk ◽  
Dušan Šuput ◽  
Grega Repovš ◽  
...  
Keyword(s):  
Working Memory ◽  
Type 1 Diabetes ◽  
Brain Function ◽  
Spatial Working Memory ◽  
Memory Task ◽  
Acute Hyperglycemia ◽  
Hyperglycemic Clamp ◽  
Design And Methods ◽  
Scanning Session

<i>Objective:</i> <a>To investigate the effect of acute hyperglycemia on brain function in adolescents with type 1 diabetes.</a> <p><i><br></i></p><p><i>Research Design and Methods:</i><b> </b>Twenty participants with type 1 diabetes (T1D) (age 14.64 ±1.78 years) and 20 age-matched healthy controls (age 14.40± 2.82 years) performed two functional magnetic resonance imaging sessions. Participants with T1D performed the first scanning session under euglycemic and the second under hyperglycemic clamp (20 mmol/L (360 mg/dL)).<b> </b></p> <p><i><br></i></p><p><i>Results:</i> Lower spatial working memory (sWM) capacity during acute hyperglycemia and significant differences in activation of regions of interest during different stages of the spatial working memory task (p=0.014) were observed.<b> </b><b></b></p> <p><i><br></i></p><p><i>Conclusions</i>: Acute hyperglycemia negatively affected sWM capacity in adolescents with T1D, which is relevant for daily functioning and academic performance.</p>

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 COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1

2016 ◽  
Vol 10 ◽  
Author(s):  
Danielle de Souza Costa ◽  
Jonas J. de Paula ◽  
Antonio M. Alvim-Soares ◽  
Patrícia A. Pereira ◽  
Leandro F. Malloy-Diniz ◽  
...  
Keyword(s):  
Working Memory ◽  
Neurofibromatosis Type 1 ◽  
Verbal Working Memory ◽  
Neurofibromatosis Type ◽  
Comt Val158met ◽  
Val158met Polymorphism

scholarly journals Impaired visuospatial but not verbal working memory in adult patients with neurofibromatosis type 1

2021 ◽  
Author(s):  
Hanlu Tang ◽  
Qiong Wu ◽  
Shiwei Li ◽  
Yehong Fang ◽  
Zhijun Yang ◽  
...  
Keyword(s):  
Working Memory ◽  
Neurofibromatosis Type 1 ◽  
Verbal Working Memory ◽  
Neurofibromatosis Type ◽  
Functional Independence ◽  
Cognitive Status ◽  
Significant Difference ◽  
Existing Data ◽  
Back Task

Abstract Purpose Cognitive dysfunction is one of the main symptoms of neurofibromatosis type 1 (NF1). As an important advanced cognitive function, working memory (WM) has rarely been systematically analyzed in NF1 by isolating the particular domain of WM, and existing data involving WM in adults with NF1 are controversial. This study aimed to clarify the characteristics of WM in NF1 from the perspective of the adult population. Methods We comprehensively analyzed WM in both verbal and visuospatial WM domains by using the N-back task (including the verbal N-back task and the visuospatial N-back task) in 31 adults with NF1 and 34 healthy controls (HCs) matched for age, gender, education levels and general cognitive status. The accuracy and reaction times (RTs) in the N-back task were entered into repeated-measure ANOVAs. Results Compared with HCs, adults with NF1 presented significantly lower mean accuracy (F(1,62) = 4.60, p = 0.036) and longer RTs (F(1,62) = 4.91, p = 0.03) in the visuospatial N-back task, and the gap became more obvious as the difficulty levels increased. However, no significant difference was found in the verbal N-back task (accuracy: F(1,62) = 2.41, p = 0.13; RTs: F(1,62) < 1). Conclusions Our study found that adults with NF1 had selective deficits in WM (impaired visuospatial but not verbal WM), and visuospatial WM dysfunction became obvious as memory load increased. Our findings supplement and refine the existing data on WM in NF1 disorder and demonstrate functional independence between verbal and visuospatial WM.

scholarly journals Relations between fine motor skill and parental report of attention in young children with neurofibromatosis type 1

2014 ◽  
Vol 36 (9) ◽  
pp. 930-943 ◽  
Author(s):  
Christy L. Casnar ◽  
Kelly M. Janke ◽  
Faye van der Fluit ◽  
Natalie G. Brei ◽  
Bonita P. Klein-Tasman
Keyword(s):  
Young Children ◽  
Neurofibromatosis Type 1 ◽  
Motor Skill ◽  
Neurofibromatosis Type ◽  
Fine Motor ◽  
Parental Report ◽  
Fine Motor Skill

scholarly journals Visuospatial but Not Verbal Working Memory Deficits in Adult Patients With Neurofibromatosis Type 1

2021 ◽  
Vol 12 ◽  
Author(s):  
Hanlu Tang ◽  
Qiong Wu ◽  
Shiwei Li ◽  
Yehong Fang ◽  
Zhijun Yang ◽  
...  
Keyword(s):  
Working Memory ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Cognitive Status ◽  
Adult Patients ◽  
Healthy Controls ◽  
Significant Difference ◽  
Existing Data ◽  
Back Task

Background: Cognitive dysfunction is one of the main symptoms of neurofibromatosis type 1 (NF1). As an important cognitive function, working memory (WM) has rarely been systematically analyzed in NF1 by isolating the particular domain of WM, and existing data involving WM in adult patients with NF1 are insufficient. This study aimed to investigate the characteristics of different types of WM in NF1 from the perspective of the adult population.Method: We comprehensively analyzed WM in both verbal and visuospatial WM domains by using the N-back task (including the verbal N-back task and the visuospatial N-back task) in 31 adults with NF1 and 34 healthy controls matched for age, gender, education levels, and general cognitive status. The accuracy and reaction times (RTs) in the N-back task were entered into mixed-design ANOVA.Results: Compared with healthy controls, adults with NF1 presented significantly lower mean accuracy and longer RTs in the visuospatial N-back task. However, no significant difference was found between the NF1 group and healthy controls in the verbal N-back task.Conclusions: The present study suggested that adults with NF1 might have deficits in visuospatial WM. We did not find evidence for verbal WM deficits in adult patients with NF1. Our findings supplement and refine the existing data on WM in the context of NF1.

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