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 The impact of host immune cells on the development of neurofibromatosis type 1: The abnormal immune system provides an immune microenvironment for tumorigenesis

2019 ◽  
Vol 2 (Supplement_1) ◽  
pp. i33-i39
Author(s):  
Cheng-Jiang Wei ◽  
Shu-Chen Gu ◽  
Jie-Yi Ren ◽  
Yi-Hui Gu ◽  
Xiang-Wen Xu ◽  
...  
Keyword(s):  
Immune System ◽  
Immune Cells ◽  
Neurofibromatosis Type 1 ◽  
Immune Escape ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Complex Interactions ◽  
Nf1 Gene ◽  
The Impact

Abstract AbstractThe immune system plays an essential role in the development of tumors, which has been demonstrated in multiple types of cancers. Consistent with this, immunotherapies with targets that disrupt these mechanisms and turn the immune system against developing cancers have been proven effective. In neurofibromatosis type 1 (NF1), an autosomal dominant genetic disorder, the understanding of the complex interactions of the immune system is incomplete despite the discovery of the pivotal role of immune cells in the tumor microenvironment. Individuals with NF1 show a loss of the NF1 gene in nonneoplastic cells, including immune cells, and the aberrant immune system exhibits intriguing interactions with NF1. This review aims to provide an update on recent studies showing the bilateral influences of NF1 mutations on immune cells and how the abnormal immune system promotes the development of NF1 and NF1-related tumors. We then discuss the immune receptors major histocompatibility complex class I and II and the PD-L1 mechanism that shield NF1 from immunosurveillance and enable the immune escape of tumor tissues. Clarification of the latest understanding of the mechanisms underlying the effects of the abnormal immune system on promoting the development of NF1 will indicate potential future directions for further studies and new immunotherapies.

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 NCOG-13. THE IMPACT OF CME ON THE KNOWLEDGE OF NEUROFIBROMATOSIS TYPE 1-RELATED TUMORS

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii132-ii132
Author(s):  
Michelle Worst ◽  
Kinjal Parikh ◽  
Rich Caracio ◽  
Sara Fagerlie
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Wide Spectrum ◽  
Clinical Care ◽  
Statistical Significance ◽  
Multidisciplinary Treatment ◽  
Neurofibromatosis Type ◽  
Educational Activity ◽  
The Impact ◽  
Post Assessment

Abstract BACKGROUND Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition characterized by a wide spectrum of clinical findings. Patients with NF1 develop benign and malignant tumors along the nerves of the skin, brain, and other body parts. Due to the unique presentation of each patient, clinicians are challenged to stay current with emerging data and how best to integrate new agents into multidisciplinary treatment paradigms. The objective of this study was to assess changes in neurologists’ and pediatricians’ knowledge and confidence through participation in education regarding NF1 treatment. METHODS The educational activity consisted of a 30-minute online enduring, 1 faculty, chapterized summary of a live symposium. Educational effect was assessed with a repeated pairs pre-/post-assessment study with a 3-item, multiple choice, knowledge questionnaire and one confidence assessment question. For all questions, each participant served as his/her own control. Pre- and post-assessment scores were compared to determine relative changes in the proportion of correct responses. A chi-square test assessed statistical significance at the P < 0.05 level. The activity launched 23rd December 2019; data were collected until 2nd April 2020. RESULTS Overall, statistically significant improvements were seen after education for neurologists (N=171, P < 0.05) and pediatricians (N=260, P < 0.01). The relative improvement in correct answers was 26% for neurologists and 48% for pediatricians (percent of total correct responses pre-/post-assessment were 27%/34% and 23%/34%, respectively). Following the activity, 16% of neurologists and 22% of pediatricians had a measurable increase in confidence regarding their understanding of multidisciplinary management of NF1. CONCLUSIONS Participation in an online, 30-minute enduring CME intervention resulted in statistically significant improvements in knowledge and confidence of neurologists and pediatricians, that result in improvements in clinical care. Continued educational activities are paramount to address residual gaps and further increase clinicians’ confidence in this clinical setting.

scholarly journals The mediating effects of quality of life, depression, and generalized anxiety on perceived barriers to employment success for people diagnosed with Neurofibromatosis Type 1

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Frank D. Buono ◽  
Matthew E. Sprong ◽  
Erina Paul ◽  
Staci Martin ◽  
Kaitlyn Larkin ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Physical Symptoms ◽  
Anxiety And Depression ◽  
Successful Employment ◽  
The Impact

Abstract Background Neurofibromatosis Type 1 (NF1) is a genetic disorder that presents with physical symptoms that can negatively impact numerous areas of one’s life, including occupational and psychological functioning, with decreased quality of life compared to a normative population. The purpose of the current study was to explore differences in the impact of psychological factors (anxiety and depression), quality of life and employment hope on barriers to successful employment between those with NF1 and matched controls. Methods A total of 212 individuals were stratified into two groups (NF1 and matched controls) using a cross-sectional design that collected a one-time response. Results A mediation analysis in which total barriers to successful employment on the differences between groups with quality of life, anxiety and depression as the mediators, and levels of employment hope as the co-variates were examined. The results confirmed a direct (.001) and indirect (< .001) relationship between barriers to successful employment with NF1 to matched controls, and with quality of life, anxiety, and depression. Conclusions The current findings indicate that the barriers to successful employment for individuals with NF1 impact their quality of life, anxiety, and depression more than that of the matched controls. Poorer barriers of employment observed amongst people with a genetic disease can impact mental health and quality of life.

The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults

2015 ◽  
Vol 24 (6) ◽  
pp. 931-944 ◽  
Author(s):  
Hilda A. Crawford ◽  
Belinda Barton ◽  
Meredith J. Wilson ◽  
Yemima Berman ◽  
Valerie J. McKelvey-Martin ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Health And Wellbeing ◽  
The Impact

scholarly journals A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1

2019 ◽  
Vol 7 ◽  
pp. 205031211982968 ◽  
Author(s):  
Alice Heaney ◽  
Jeanette Wilburn ◽  
Shannon Langmead ◽  
Jaishri Blakeley ◽  
Susan Huson ◽  
...  
Keyword(s):  
United States ◽  
United Kingdom ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Patient Reported Outcome Measures ◽  
Patient Reported Outcome ◽  
Plexiform Neurofibromas ◽  
Patient Reported ◽  
The Impact

Objective: To explore the impact of plexiform neurofibromas on the lives of adults with neurofibromatosis type 1. Background: Neurofibromatosis type 1 is a complex neurogenetic syndrome that affects many aspects of health and functioning. A common manifestation of neurofibromatosis type 1 is plexiform neurofibromas, non-cancerous tumours that can cause disfigurement, pain and neurologic disability. Patient-reported outcome measures used in this condition have addressed symptoms and functional ability but not how the condition affects patients’ lives, particularly, their ability to meet their human needs. Methods: Unstructured qualitative interviews were conducted with adults with neurofibromatosis type 1–associated plexiform neurofibromas in the United Kingdom and United States. Interviewees were encouraged to describe how plexiform neurofibromas affected their ability to meet their needs. Interviews were audio-recorded and transcribed verbatim. The UK and US transcripts were combined and theoretical thematic analysis was conducted. Results: In all, 42 interviews (United Kingdom = 20, United States = 22) were conducted. Transcripts revealed 696 statements on the impact of plexiform neurofibromas on need fulfilment. Five major themes emerged: appearance, relationships, independence, role fulfilment and pleasure. Conclusion: Neurofibromatosis type 1–associated plexiform neurofibromas have a major effect on individuals’ ability to meet their needs. An understanding of need fulfilment will complement information generated from traditional patient-reported outcome measures, particularly in a multi-faceted syndrome such as neurofibromatosis type 1.

Steady-State Visual Evoked Potentials in Children With Neurofibromatosis Type 1: Associations With Behavioural Rating Scales And Impact of Psychostimulant Medication

2021 ◽  
Author(s):  
Eve Lalancette ◽  
Audrey-Rose Charlebois-Poirier ◽  
Kristian Agbogba ◽  
Inga Sophia Knoth ◽  
Emily J.H. Jones ◽  
...  
Keyword(s):  
Steady State ◽  
Evoked Potentials ◽  
Visual Evoked Potentials ◽  
Neurofibromatosis Type 1 ◽  
Visual Stimulation ◽  
Neurofibromatosis Type ◽  
Signal To Noise ◽  
The Impact ◽  
Psychostimulant Medication

Abstract Background: Neurofibromatosis type 1 (NF1) is a genetic disorder often associated with cognitive dysfunctions, including a high occurrence of deficits in visuoperceptual skills. The neural underpinnings of these visuoperceptual deficits are not fully understood. We used steady-state visual evoked potentials (SSVEPs) to investigate possible alterations in the synchronization of neural activity in the occipital cortex of children with NF1. Methods: SSVEPs were measured using electroencephalography and compared between children with NF1 (n = 28) and neurotypical controls (n=28) aged between 4 and 13 years old. SSVEPs were recorded during visual stimulation with coloured icons flickering at three different frequencies (6Hz, 10Hz and 15 Hz) and analyzed in terms of signal-to-noise ratios. A mixed design ANCOVA was performed to compare SSVEP responses between groups at the three stimulation frequencies. Pearson’s correlations with levels of intellectual functioning as well as with symptoms of ADHD, ASD and emotional/behavioural problems were performed. The impact of psychostimulant medication on the SSVEP responses was analyzed in a subset of the NF1 group (n=8) with paired t-tests.Results: We observed reduced signal-to-noise ratios of the SSVEP responses in children with NF1. The SSVEP responses were negatively correlated with symptoms of inattention and with symptoms of emotional/behavioural problems in the NF1 group. The SSVEP response generated by the lowest stimulation frequency (i.e., 6Hz) was rescued with the intake of psychostimulant medication. Conclusions: Impaired processing of rhythmic visual stimulation was evidenced in children with NF1 through measures of SSVEP responses. Those responses seem to be more reduced in children with NF1 who exhibit more symptoms of inattention and emotional/behavioral problems in their daily life. SSVEPs are potentially sensitive electrophysiological markers that could be included in future studies investigating the impact of medication on brain activity and cognitive functioning in children with NF1.

scholarly journals The mediating effects of quality of life, depression, and generalized anxiety on perceived work barriers for people diagnosed with Neurofibromatosis Type 1

2021 ◽  
Author(s):  
Frank D Buono ◽  
Matthew E Sprong ◽  
Erina Paul ◽  
Staci Martin ◽  
Kaitlyn Larkin ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Physical Symptoms ◽  
Anxiety And Depression ◽  
Cross Sectional ◽  
The Impact

Abstract Background Neurofibromatosis Type 1 (NF1) is a genetic disorder that presents with physical symptoms that can negatively impact numerous areas of one’s life, including occupational and psychological functioning, with decreased quality of life compared to a normative population. The purpose of the current study was to explore the impact of psychological factors (anxiety and depression), along with quality of life and hope on employment barriers between those with NF1 and matched controls. Methods A total of 212 individuals were stratified into two groups (NF1 and matched controls) using a cross-sectional design that collected a one-time response. Results A mediation analysis in which total barriers to employment success on the differences between groups with quality of life, anxiety and depression as the mediators, and levels of employment hope as the co-variates were examined. The results did confirm a direct (.001) and indirect (< .001) relationship between work barriers with NF1 to matched controls, and with quality of life, anxiety, and depression. Conclusions The current article demonstrates that quality of life can directly be affected by perceived barriers of employment within the NF1 population, while extending existing research by providing insight on the impact of quality of life on employment. Poorer mental health observed amongst people with a genetic disease can impact barriers of employment and quality of life.

scholarly journals REiNS: Measuring the Impact of Cutaneous Neurofibromas on Quality of Life in Neurofibromatosis Type 1

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012427
Author(s):  
Sheilagh Maguiness ◽  
Yemima Berman ◽  
Nathan Rubin ◽  
Melissa Dodds ◽  
Scott R. Plotkin ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Quality Of Life Measures ◽  
Clinic Site ◽  
Related Quality ◽  
The Impact ◽  
Cutaneous Neurofibromas

Objective:In order to explore the use of Skindex scoring in NF1 patients across multiple clinical sites, and inform design of additional quality of life measures, we analysed correlations between skindex, site and clinical parameters for 79 patients with NF1 from specialised clinics in Sydney, NSW Australia (RNS) and Minneapolis Minnesota, USA (UMN).Methods:The relationship between the clinical factors and Skindex scores were explored by clinic site and overall.Results:40 subjects were recruited from RNS and 39 from UMN. Female sex, total number of cNFs, and whether cNFs were present on the face, correlated highly with skindex and not Riccardi scores. The UMN site had lower average scores, but these differences were almost entirely removed after adjusting for age, sex, facial CNFs and total CNF number.Conclusions:The development of cutaneous neurofibromas (cNFs) in adolescence and adulthood in neurofibromatosis, type 1 (NF1) often lead to progressive disfigurement and discomfort, and are among one of the most common reasons for patients to seek medical treatment. Skindex has been used to assess skin related quality of life in NF1 previously but is not specific to NF1. These findings highlight the need for a low threshold for referral to Dermatologists for all patients with Neurofibromatosis Type 1 regardless of the severity of disease. The finding that facial CNFs and higher total number of CNFs correlates with poorer skin related quality of life, may benefit design of more specific NF1 skin related quality of life measures.

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