Profiling the Word Reading Abilities of School-Age Children with Neurofibromatosis Type 1

Abstract Objective: Reading difficulties are one of the most significant challenges for children with neurofibromatosis type 1 (NF1). The aims of this study were to identify and categorize the types of reading impairments experienced by children with NF1 and to establish predictors of poor reading in this population. Method: Children aged 7–12 years with NF1 (n = 60) were compared with typically developing children (n = 36). Poor word readers with NF1 were classified according to impairment type (i.e., phonological, surface, mixed), and their reading subskills were compared. A hierarchical multiple regression was conducted to identify predictors of word reading. Results: Compared to controls, children with NF1 demonstrated significantly poorer literacy abilities. Of the 49 children with NF1 classified as poor readers, 20 (41%) were classified with phonological dyslexia, 24 (49%) with mixed dyslexia, and 5 (10%) fell outside classification categories. Children with mixed dyslexia displayed the most severe reading impairments. Stronger working memory, better receptive language, and fewer inattentive behaviors predicted better word reading skills. Conclusions: The majority of children with NF1 experience deficits in key reading skills which are essential for them to become successful readers. Weaknesses in working memory, receptive language, and attention are associated with reading difficulties in children with NF1.

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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 ◽

10.1136/bmjopen-2018-021800 ◽

2018 ◽

Vol 8 (8) ◽

pp. e021800 ◽

Cited By ~ 4

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.

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An Examination of Lexical and Sublexical Reading Skills in Children with Neurofibromatosis Type 1

Child Neuropsychology ◽

10.1080/09297040701595505 ◽

2008 ◽

Vol 14 (5) ◽

pp. 401-418 ◽

Cited By ~ 24

Author(s):

Sharon E. Watt ◽

E. Arthur Shores ◽

Kathryn N. North

Keyword(s):

Neurofibromatosis Type 1 ◽

Reading Skills ◽

Neurofibromatosis Type

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

Journal of the International Neuropsychological Society ◽

10.1017/s1355617718000383 ◽

2018 ◽

Vol 24 (9) ◽

pp. 977-994 ◽

Cited By ~ 11

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)

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

Frontiers in Human Neuroscience ◽

10.3389/fnhum.2016.00334 ◽

2016 ◽

Vol 10 ◽

Cited By ~ 2

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

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

10.21203/rs.3.rs-513732/v1 ◽

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.

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

Frontiers in Psychology ◽

10.3389/fpsyg.2021.751384 ◽

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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