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.

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.

Selective impairment of the executive attentional network in adult patients with neurofibromatosis type 1

Neuroreport ◽  
2019 ◽  
Vol 30 (14) ◽  
pp. 921-926
Author(s):  
Xingchao Wang ◽  
Qiong Wu ◽  
Hanlu Tang ◽  
Fu Zhao ◽  
Zhijun Yang ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Adult Patients ◽  
Attentional Network ◽  
Selective Impairment

scholarly journals Oral Clinical Manifestations of Neurofibromatosis Type 1 in Children and Adolescents

2020 ◽  
Vol 10 (14) ◽  
pp. 4687
Author(s):  
Rossella Santoro ◽  
Claudia Santoro ◽  
Francesca Loffredo ◽  
Antonio Romano ◽  
Silverio Perrotta ◽  
...  
Keyword(s):  
Dental Caries ◽  
Neurofibromatosis Type 1 ◽  
Oral Hygiene ◽  
Neurofibromatosis Type ◽  
Oral Manifestations ◽  
Poor Oral Hygiene ◽  
Enamel Defects ◽  
Dental Abnormalities ◽  
Significant Difference

Background: Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder. The expression of NF1 is extremely variable considering the broad spectrum of mutations affecting the gene(s) responsible for the pathology. Aim: To investigate the prevalence of oral manifestations in a group of children affected by neurofibromatosis type 1. Design: 100 pediatric patients, with genetically confirmed NF1 were enrolled in this study and matched to a total of 100 healthy children. Clinical examination was used to investigate: dental caries, dental abnormalities, periodontal health, neurofibromas, malocclusions, and enamel defects. Results: Mann Whitney’s test concerning prevalence of dental caries resulted in a no significant difference between the two groups (p = 0.90); a significant difference was highlighted as regards the other kinds of manifestations as well: enamel defects (p = 0.01), neurofibromas (p = 0.0043) and poor oral hygiene (p = 0.0002) with a higher prevalence of these features in NF1 patients than healthy controls. Similar results come out, regarding dental abnormalities in which can observe a significant difference between shape anomalies (p < 0.001). Conclusion: According to data obtained from the present study, it can be stated that NF1-related oral manifestations can be detected during childhood and adolescence. In particular for neurofibromas, enamel defects, shape anomalies, and poor oral hygiene.

Neuroretinal Dysfunction in Patients Affected by Neurofibromatosis Type 1

2021 ◽  
Author(s):  
Antonietta Moramarco ◽  
Luca Lucchino ◽  
Fabiana Mallone ◽  
Michela Marcelli ◽  
Ludovico Alisi ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Healthy Subjects ◽  
Cyclic Adenosine Monophosphate ◽  
Adenosine Monophosphate ◽  
Neurofibromatosis Type ◽  
Implicit Time ◽  
Control Group ◽  
Ophthalmological Examination ◽  
Significant Difference

Abstract The aim of the study was to examine neuroretinal function by using the mfERG test in patients with neurofibromatosis type 1 (NF1) without optic pathway gliomas (OPGs). This study was conducted on 35 patients (35 eyes) with NF1 and 30 healthy subjects (30 eyes) for the control group. Each subject underwent a complete ophthalmological examination including multifocal electroretinography (mfERG). 1.5-Tesla magnetic resonance imaging (MRI) scan of the brain was performed in NF1 patients to assess the presence of OPGs. All participants were recruited having a best corrected visual acuity (BCVA) of no less than 20/20 in each eye. The amplitude and implicit time of the P1 wave (first-order Kernel component) were evaluated on mfERG. Data analysis was carried out in the two central degrees and in the four quadrants from two to 25 degrees of visual field. Statistically significant results were obtained for the P1 wave amplitudes in the 4 quadrants in NF1 patients compared to healthy subjects, while the reduction was not significant in the 2 central degrees. A statistically significant difference was observed among the P1 wave amplitudes as recorded in the 4 quadrants within the NF1 group, with lower amplitudes in the nasal quadrants. No differences in the implicit times were recorded in the 4 quadrants and in the 2 central degrees as compared between NF1 patients and controls. The present study demonstrates impaired neuroretinal function in NF1 patients. Altered intracellular signal transduction due to abnormal neurofibromin-mediated cyclic adenosine monophosphate (cAMP) generation, could be involved. Our results suggest a possible use of mfERG as subclinical retinal damage indicator with a potential utility in clinical practice for the follow-up of NF1 patients.

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.

Growth curve analyses of neuropsychological profiles in children with neurofibromatosis Type 1: Specific cognitive tests remain “Spared” and “Impaired” over time

2002 ◽  
Vol 8 (6) ◽  
pp. 838-846 ◽  
Author(s):  
LAURIE E. CUTTING ◽  
GUA-HUA HUANG ◽  
SCOTT ZEGER ◽  
CHRISTINE W. KOTH ◽  
RICHARD E. THOMPSON ◽  
...  
Keyword(s):  
Growth Curve ◽  
Neurofibromatosis Type 1 ◽  
Block Design ◽  
Neurofibromatosis Type ◽  
Rapid Automatized Naming ◽  
Cognitive Measures ◽  
Significant Difference ◽  
Growth Curve Analyses ◽  
Over Time

Cognitive deficits in neurofibromatosis Type 1 (NF-1) have been documented in both the verbal and visuospatial domains. Previous investigations from our laboratory have determined a specific pattern of “spared” (Picture Arrangement, Picture Completion, and Rapid Automatized Naming) and “impaired” (Judgment of Line Orientation, Vocabulary, and Block Design) performance on cognitive measures in this population when compared to sibling-matched controls in pairwise designs. Growth curve analyses were conducted on these repeated measures in 19 patients with NF-1 and their siblings to investigate the longitudinal course and growth pattern of these spared and impaired measures. Results indicated that over time children with NF-1 do not catch up to their siblings on impaired measures, and they continue to perform similarly to their siblings on the spared measures. With respect to growth rates, on average across the 6 cognitive measures there was no significant difference between the groups. However, the variation among families for level of performance was estimated to be larger than variation among siblings within a family for 2 out of 6 cognitive measures (i.e., providing for these 2, Vocabulary and Rapid Automatized Naming, evidence of substantial familial correlation), suggesting that there is need to consider NF-1 associated deficits within a familial context. (JINS, 2002, 8, 838–846.)

Facial Aesthetic Unit Remodeling Procedure for Neurofibromatosis Type 1 Hemifacial Hypertrophy: Report on 33 Consecutive Adult Patients

2010 ◽  
Vol 125 (4) ◽  
pp. 1197-1207 ◽  
Author(s):  
Mikaël Hivelin ◽  
Pierre Wolkenstein ◽  
Christophe Lepage ◽  
Laurence Valeyrie-Allanore ◽  
Jean Paul Meningaud ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Adult Patients ◽  
Aesthetic Unit

scholarly journals Conflict processing in juvenile patients with neurofibromatosis type 1 (NF1) and healthy controls – Two pathways to success

2017 ◽  
Vol 14 ◽  
pp. 499-505 ◽  
Author(s):  
Annet Bluschke ◽  
Maja von der Hagen ◽  
Katharina Papenhagen ◽  
Veit Roessner ◽  
Christian Beste
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Healthy Controls ◽  
Conflict Processing

scholarly journals Glioma of The Temporal Lobe That Impair Working Memory

2021 ◽  
Author(s):  
Shengyuan Ni ◽  
Peng Chen ◽  
Yang Yang ◽  
Dejun Bao ◽  
Rui Zhang ◽  
...  
Keyword(s):  
Working Memory ◽  
Temporal Lobe ◽  
Working Memory Capacity ◽  
Reaction Times ◽  
Memory Capacity ◽  
Healthy Controls ◽  
Significant Difference ◽  
Span Tasks ◽  
Memory Network ◽  
Back Task

Abstract Background: Working memory refers to the temporary storage and manipulation of information. Although working memory is generally considered to rely primarily on a fronto-parietal network, there is recent evidence that the temporal lobe has an important role in specific aspects of working memory. Methods: In this study, we assessed 30 patients with temporal tumor and 30 healthy controls using a method that combined memory tests with working memory tasks ( Digital span task, Spatial capacity N-back task and Emotional N-back task ). Results: The results revealed that there are no significant difference between the groups with regard to the neuropsychological functionings. For working memory tasks, statistically significant differences were not found on the 1-back tasks and forward versions of simple span tasks between the temporal patients group (TP) and the healthy controls group (HC). Analysis of correct responses of the experimental tasks suggested that the TP group was significantly different from the HC group in the 2-back tasks and backward versions of simple span tasks. For reaction times, spatial capacity 2-back task and emotional 2-back task showed the TP group were significantly different from the HC group. Conclusion: These findings revealed that working memory capacity was impaired in patients with a temporal tumour and that the temporal lobe may be a certain neuroanatomical structure in the working memory network.

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