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.

Oral Manifestations of Neurofibromatosis Type 1 in Children with Facial Plexiform Neurofibroma: Report of Three Cases

2015 ◽  
Vol 39 (2) ◽  
pp. 168-171 ◽  
Author(s):  
KS Cunha ◽  
RE Rozza-de-Menezes ◽  
RM Andrade ◽  
LMS Almeida ◽  
MER Janini ◽  
...  
Keyword(s):  
Trigeminal Nerve ◽  
Neurofibromatosis Type 1 ◽  
Soft Tissues ◽  
Genetic Disorder ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Oral Manifestations ◽  
Plexiform Neurofibromas ◽  
Organ Systems

Neurofibromatosis type 1 (NF1) is a common autosomal genetic disorder with a prevalence of 1 in 3,000 births. NF1 is a complex syndrome characterized by many abnormalities and may affect all organ systems. Oral manifestations of NF1 occur frequently, but reports including NF1 children with facial plexiform neurofibromas and oral alterations are scant. Facial plexiform neurofibroma may cause asymmetry, disfigurement and usually arises from the trigeminal nerve. The aim of this paper is to to report three pediatric NF1 cases with facial plexiform neurofibroma presenting with oral manifestations, which were evaluated clinically and radiographically, and also to briefly review the literature. Patients presented with changes in the oral soft tissues, jaws, and teeth ipsilateral to the tumor.

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.

Oral manifestations in patients with neurofibromatosis type-1: A comprehensive literature review

2014 ◽  
Vol 91 (2) ◽  
pp. 123-129 ◽  
Author(s):  
Fawad Javed ◽  
Sundar Ramalingam ◽  
Hameeda Bashir Ahmed ◽  
Bhumija Gupta ◽  
Chalini Sundar ◽  
...  
Keyword(s):  
Literature Review ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Oral Manifestations ◽  
Comprehensive Literature Review

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.)

scholarly journals Oral Manifestations of Neurofibromatosis Type 1

2019 ◽  
Vol 09 (01) ◽  
pp. 41-55
Author(s):  
Hafida Cherifi ◽  
Benjamin Fournier ◽  
Ariane Berdal ◽  
Blake McAlpin ◽  
Ishaï-Yaacov Sitbon ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Oral Manifestations

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 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 Restoration in primary molars placed by undergraduate dental students: reasons for failures

2021 ◽  
Vol 2 (2) ◽  
pp. 33-40
Author(s):  
Nor Asilah Harun ◽  
Munirah Yaacob ◽  
Mohamad Shafiq Aizuddin Abdul `Alim ◽  
Saifullah Ghazali ◽  
Nik Khairul Azmi Nik Khairuzaman
Keyword(s):  
Dental Caries ◽  
Oral Hygiene ◽  
United States Public Health ◽  
Dental Students ◽  
Dental Restoration ◽  
Poor Oral Hygiene ◽  
Primary Molar ◽  
Cox Regression Analysis ◽  
Significant Difference ◽  
Failure Restoration

Dental caries is one of the most common chronic childhood diseases and highly prevalent in the world. The commonest treatment procedure for dental caries is a dental restoration which aims to retain the tooth. The survival of restoration depends on the factors associated with restorative materials, patients or operators. Thus, this study aimed to determine the reasons for the failure of restoration in posterior primary teeth performed by undergraduate dental students. A total number of 32 patients aged from 5 to 12 years old were included in this study. Overall, 115 primary molar restorations were assessed clinically using the modified United States Public Health Service Ryge criteria. The O’Leary plaque score was used to evaluate the oral hygiene status of all patients. Then, the data was analysed using the Kaplan-Meier survival curves with log-rank test and Cox regression analysis. 43 (37.4 %) restorations failed with 62.1 % for glass ionomer cement and 36.4 % for composite restorations. Marginal adaptation (62.8 %) is the commonest cause of failure. 76.7% of failure restoration was in patients with poor oral hygiene, and it showed a significant difference compared to patients with moderate and good oral hygiene (p = 0.014). Thus, it was concluded that the type of restorative material and oral hygiene status contributed to the failure of restoration placed in primary molar restorations with failure restoration may occur 2.6 times more in poor oral hygiene patients.

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