A Clinico-Epidemiological Study of Neurofibromatosis Type 1 and Its Relation to Quality of Life: A Cross-Sectional Study From India

Mahajan, Aditi; Patvekar, Milind A; Lote, Samruddhi; Deora, Mahendra Singh; Poulose, Divya; Gogineni, Jaya Madhurya; Panikar, Krish; Chaklader, Biswajit

doi:10.7759/cureus.22376

Cited by 4 publications

(2 citation statements)

References 22 publications

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“…Although the health risks posed by NF1 are not often serious, NF1 considerably affects the patient’s quality of life as it causes visible changes in their appearance and leads to social stigma (Bicudo et al, 2016; Mahajan et al, 2022). Thus, NF1 patients are less satisfied with their lives and have more mental health issues, pain (Cannon et al, 2018), and inferior self-reported body image (Granström et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Lived experiences of neurofibromatosis type 1 patients: Social life, stigma, and intervention strategies

Aghaei,

Herran,

Fanaei

et al. 2023

J Health Psychol

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Neurofibromatosis type 1 (NF1) is a neurogenetic disorder associated with visual-spatial problems, executive dysfunction, and language deficits, making patients experience social isolation, stigma, anxiety, and depression. Here, we explored NF1 patients’ lived experiences by conducting semi-structured, in-depth interviews with 21 NF1 patients and 16 care providers. The thematic analysis uncovered dimensions of NF1 patients’ social lives at different ecological levels, including their relationships with family, friends, teachers, coworkers, providers, and society. Positive dimensions of NF1 patients’ social life (e.g. familial support and sacrifice, responsibility, and self-sufficiency, supportive friends, and professors) counter negative dimensions (e.g. the vulnerability in sexual relationships, social interactions, discriminatory professors, misconceptions about abilities, appearance bias, internalized and social stigma, violence, and low self-esteem). Adaptive strategies used or suggested by NF1 patients at personal (e.g. supportive network, positive reframing, acceptance of their bodies) and social levels (e.g. psychological support, group therapy, public awareness, and governmental support) were identified.

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Section: Discussionmentioning

confidence: 99%

Lived experiences of neurofibromatosis type 1 patients: Social life, stigma, and intervention strategies

Aghaei,

Herran,

Fanaei

et al. 2023

J Health Psychol

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“…Studying the effects of NF1 on various aspects of quality of life (QoL) is important to implement beneficial strategies to improve the QoL of NF1 patients. Researches have used several questionnaires to study the QoL of NF1 patients primarily by post, mail or online surveys (SF-36, Skindex-29, NF1-AdQoL, WHOQOL-100, WHOQOL-Bref, cNF-Skindex, EQ-5D-5 L, INF1-QOL, PedsQL, DLQI, BoN, CHQ-PF50, ITQOL… ) [7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22]. In those studies, the QoL of individuals with NF1 was systematically below the QoL of the general population.…”

Section: Introductionmentioning

confidence: 99%

Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1

Cieza Rivera,

Lobato Fuertes,

Fernández-Villa

et al. 2024

Orphanet J Rare Dis

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Background Neurofibromatosis type 1 (NF1) is one of the most common RASopathies predisposing affected patients to melanic lesions and benign tumors. NF1 is associated with considerable esthetic and functional burden negatively affecting the patient’s quality of life (QoL). This study aims to assess the clinical features of NF1 patients and evaluate their impact on QoL. We identified NF1 patients from a public health database of a region in Spain. All patients underwent clinical and ophthalmological evaluation for NF1 features. We measured QoL using the Spanish version of the Skindex-29. Results Forty patients fulfilled the NF1 National Institute of Health criteria when we recruited patients. The median age was 42.00 years (IQR 26.5 -53.75). The median total Skindex-29 score was 12.3 (IQR 5.9–22.4); (emotion: 15.0, IQR 5.0-37.5; symptoms 8.9, IQR 0.0-17.9 and functioning 8.3; IQR 0.5–18.3). Women and NF1 patients with lower educational levels were associated with poorer QoL scores. We identified itching and sleep troubles to influence NF1 patients’ QoL negatively. Conclusion NF1 considerably influences the psychological well-being of NF1 patients. We observed that female and low-educated patients scored higher on the emotional dimension of the Skindex-29 and could, therefore, be more at risk of depression. We also pointed out some “minor symptoms” that negatively impact NF1 patients’ QoL such, as itching and sleep troubles which doctors could treat if sought by doctors.

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Analysis of visual evoked potentials in patients with neurofibromatosis type 1: new concepts

Jancic,

Zarkovic,

Nikolic

et al. 2024

Front. Neurol.

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IntroductionNeurofibromatosis type 1 (NF type 1) is an autosomal dominant disease with typical clinical manifestations, such as skin lesions, Lisch nodules, optic pathway gliomas, and neurofibromas, caused by the mutation of the NF1 gene. Visual evoked potentials (VEP) present a measure of the electrophysiological response of visual cortex to a visual stimulus. The role of VEP in the pathophysiology of NF type 1 is very complex and requires additional research.The AimWe examined the differences between NF type 1 patients with normal and altered VEP and analyzed the correlation between the prolongation of P100 latency and disease severity.Materials and methodsTwo groups were formed: a control group and a study group with NF type 1 patients. Based on the control group analysis, a threshold value for a normal VEP finding of 116 ms was obtained, and it was used to divide the study group into subgroups with normal and altered VEP. We proceeded with examining the differences in clinical manifestations of the disease between the subgroups, after which we checked if there is a correlation between the prolongation of the P100 latency and the severity of the clinical picture according to the Riccardi scale. Statistical analysis was performed using the Pearson chi-square test and the Spearman correlation test in the program SPSS 28.0, with levels of statistical significance p = 0.05 and p = 0.001.ResultsIn the group with the abnormal VEP we found a statistically significant more frequent occurrence of optic tract glioma (p = 0.008), tumors (p = 0.032), epilepsy (p = 0.043), and cognitive disorders (p = 0.028), while the other clinical signs had an equal prevalence in both groups. A moderately strong correlation (rs = 0.665) was observed between the prolongation of P100 latency and the severity of the clinical picture.ConclusionOur results showed the important role of VEP in the description of clinical phenotypes of NF type 1. The authors of the study propose VEP to be included in the diagnostic algorithms designed for patients with NF type 1.

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A Clinico-Epidemiological Study of Neurofibromatosis Type 1 and Its Relation to Quality of Life: A Cross-Sectional Study From India

Cited by 4 publications

References 22 publications

Lived experiences of neurofibromatosis type 1 patients: Social life, stigma, and intervention strategies

Lived experiences of neurofibromatosis type 1 patients: Social life, stigma, and intervention strategies

Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1

Analysis of visual evoked potentials in patients with neurofibromatosis type 1: new concepts

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