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Conteúdo (article):

QUALIDADE DE VIDA DE CRIANÇAS ADOLESCENTES E ADULTOS JOVENS COM NEUROFIBROMATOSE TIPO 1: REVISÃO DE ESCOPO
Título em inglês: QUALITY OF LIFE IN CHILDREN, ADOLESCENTS, AND YOUNG ADULTS WITH NEUROFIBROMATOSIS TYPE 1: A SCOPING REVIEW

Lucas Paulo de Souza1,2
lucaspdesouza1995@gmail.com
https://orcid.org/0000-0003-0935-1117
Bruna Lixinski Diniz3
bruldiniz@gmail.com
https://orcid.org/0000-0003-1448-0298
João Gabriel Toledo Medeiros1
joaogt@ufcspa.edu.br
https://orcid.org/0000-0002-2789-9189
Giovani Basso da Silva2
gbasso70@gmail.com
https://orcid.org/0000-0002-3108-445X
Paulo Ricardo Gazzola Zen1,2,3
paulozen@ufcspa.edu.br
https://orcid.org/0000-0002-7628-4877
1 Graduate Program in Graduate Program in Pediatrics in Child and Adolescent Health Care. Federal University of Health Sciences of Porto Alegre (UFCSPA). Porto Alegre, RS, Brazil
2 Irmandade Santa Casa de Misericórdia de Porto Alegre. Porto Alegre, RS, Brazil
3 Graduate Program in Pathology. UFCSPA. Porto Alegre, RS, Brazil

Acknowledgment: We acknowledge the Coordination for the Improvement of Higher Education Personnel (CAPES) for providing the master’s degree scholarship (process no. 88887.941351/2024-00).

Resumo
Introdução: A Neurofibromatose Tipo 1 é uma facomatose que apresenta um padrão de herança autossômica dominante. A expressão da doença, bem como as suas complicações, é variável. Objetivo: Mapear os conceitos e achados acerca da qualidade de vida de crianças, adolescentes e jovens adultos com Neurofibromatose Tipo 1 e identificar as limitações acerca do tema na literatura atual. Método: Trata-se de uma de revisão da literatura do tipo Scooping Review estruturada de acordo com o Preferred Reporting Items for Systematic review and Meta-Analysis Protocols. As bases de dados consultadas foram PubMed/MEDLINE, EMBASE, Web of Science, Lilacs, CINAHL, Open Grey e Google Scholar. Os estudos foram selecionados e analisados quanto a sua qualidade, utilizando o questionário “Checklist for Analytical Cross Sectional Studies”. Resultados: 39 registros foram selecionados para avaliação de elegibilidade por dois pesquisadores distintos; destes, oito foram incluídos na revisão por estarem de acordo com os critérios de inclusão estabelecidos. Conclusão: A Neurofibromatose Tipo 1 é uma doença complexa com ampla comorbidade, o que compromete diretamente a qualidade de vida de seus indivíduos. Estudos de intervenção para uma melhor abordagem dessa dimensão se fazem necessários, a fim de melhorar a qualidade de vida.
Palavras-chave: Qualidade de Vida; Neurofibromatose 1; Pediatria; Genética Médica; Revisão

Abstract
Introduction: Neurofibromatosis Type 1 (NF1) is a phakomatosis with an autosomal dominant inheritance pattern. The clinical expression of the disorder and its associated complications exhibit marked variability. Objective: To map the key concepts and findings related to the quality of life of children, adolescents, and young adults with Neurofibromatosis Type 1, and to identify gaps in the existing body of literature on this topic. Method: The literature search was performed across multiple databases, including PubMed/MEDLINE, EMBASE, Web of Science, LILACS, CINAHL, Open Grey, and Google Scholar. Eligible studies were selected and evaluated for methodological quality using the Checklist for Analytical Cross-Sectional Studies. Results: Thirty-nine records were screened for eligibility by two independent reviewers. Of these, eight studies met the predefined inclusion criteria and were included in the final review. Conclusion: Neurofibromatosis Type 1 is a complex disorder characterized by a wide range of comorbidities, which directly impact the quality of life of affected individuals. Intervention studies focused on improving quality of life are essential to support and enhance well-being in this population.
Keywords: Quality of Life; Neurofibromatosis 1; Pediatrics; Medical Genetics; Review

INTRODUCTION
Neurofibromatosis Type 1 (NF1) is a systemic phakomatosis inherited in an autosomal dominant pattern. It is characterized by multiple café-au-lait macules (CALMs), freckling in intertriginous areas—typically axillary or inguinal—neurofibromas, learning disabilities, and a range of other complications of varying severity and complexity¹. The phenotypic expression of NF1, as well as its associated comorbidities, is highly variable, even among individuals from the same family¹,².
According to data from the Clinical Advisory Board of the United Kingdom Neurofibromatosis Association, the estimated incidence of NF1 ranges between 1:2,500 and 1:3,000, with no statistically significant differences in prevalence across populations or between sexes. Genetically, each child of an individual with NF1 has a 50% chance of inheriting the pathogenic variant, with a nearly 100% penetrance. Therefore, a child who inherits a pathogenic NF1 variant will develop some phenotypic features of the disorder, which may vary even among members of the same family².
Whether resulting from a de novo mutation or inherited from an affected parent, the diagnosis of Neurofibromatosis Type 1 is primarily clinical, guided by the well-established diagnostic criteria set forth by the 2021 international consensus¹. In most cases, a detailed medical history and comprehensive physical examination are sufficient to establish the diagnosis. Nevertheless, supplementary investigations are often required to evaluate the extent of systemic involvement, facilitate early detection, and monitor disease-related complications¹,².
Moreover, the clinical diagnostic criteria exhibit low sensitivity in pediatric populations, as the manifestations of NF1 typically emerge progressively over time. Therefore, in individuals under the age of seven—particularly those presenting solely with café-au-lait macules (CALMs) and intertriginous freckling, with or without a positive family history and in the absence of other clinical features—molecular testing may be warranted to increase the diagnostic rate. This strategy can aid in differentiating NF1 from other conditions with similar presentations and in confirming the diagnosis¹.
According to the most recent consensus, NF1 is suspected when an individual presents the following clinical manifestations¹:
• Diagnostic criteria (A) apply to individuals without a parent diagnosed with NF1, and require the presence of two or more of the following clinical features:
 Six or more café-au-lait macules (CALMs) measuring over 5 mm in diameter in prepubertal individuals or over 15 mm in postpubertal individuals.
 Freckling in the axillary or inguinal regions.
 ≥ neurofibromas of any type, OR one plexiform neurofibroma (PN).
 Optic pathway glioma.
 ≥ Lisch nodules or ≥ choroidal abnormalities.
 A distinctive osseous lesion, such as sphenoid wing dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.
 A heterozygous pathogenic NF1 variant with a variant allele fraction of 50% in apparently normal tissue, such as peripheral blood leukocytes.
• Children with a parent who meets the diagnostic criteria listed in (A) can be diagnosed with NF1 if they present with at least one of the criteria described in (A).
Currently, it is recognized that a negative molecular test does not exclude the diagnosis of NF1, as some individuals may present with characteristic clinical features despite the absence of a detectable pathogenic NF1 variant. Furthermore, many clinical manifestations of the disorder become more evident with age, resulting in individuals receiving a diagnosis only in adulthood¹⁻³.
Multidisciplinary follow-up is essential for individuals living with NF1, as the condition remains incurable. Regular medical evaluations—scheduled based on the severity and complexity of each patient’s clinical presentation—are crucial for the early detection and management of potential complications that may develop throughout the course of the disease.
Although treatment approaches are evolving in parallel with scientific advancements, surgical intervention remains the gold standard for the removal of neurofibromas. Surgery is typically indicated when neurofibromas cause pain, impair daily functioning, or lead to significant cosmetic concerns. However, individuals with plexiform neurofibromas (PN) now have access to a novel therapeutic option—Selumetinib, a mitogen-activated protein kinase (MEK) inhibitor that targets specific proteins involved in tumor cell proliferation. A Phase 2 clinical trial conducted in pediatric patients with inoperable PN demonstrated that, after one year of treatment, Selumetinib led to a significant reduction in tumor size, along with decreased localized pain and improvements in other related symptoms and complaints⁴. Although the drug has been approved by the Brazilian Health Regulatory Agency (ANVISA), it has not yet been incorporated into the list of medications provided by the Brazilian Unified Health System (SUS).
Another critical component of follow-up care for individuals with NF1 is the monitoring of neuropsychomotor and educational development, which is essential for the early detection and intervention of potential developmental delays. Psychological conditions—such as depression and anxiety—are also commonly observed in individuals with NF1. These issues may arise both from the clinical manifestations of the disease (e.g., multiple neurofibromas) and from the complex, often unpredictable prognosis associated with the disorder. As such, these challenges represent a significant health concern, as they have a direct and detrimental impact on the individual’s quality of life (QoL).
The concept of QoL is longstanding, and was formally defined by the World Health Organization in 1998 as “an individual’s perception of their position in life in the context of the culture and value systems in which they live and in relation to their goals, expectations, standards, and concerns”⁵. Since then, interest in QoL has grown steadily within multidisciplinary healthcare, driven not only by public health policies but also by evolving clinical practices and care protocols, given that the health–disease process, as well as QoL management, is complex, dynamic, and multifactorial⁶.
A systematic review⁷ examining QoL in individuals with Neurofibromatosis Type 1 (NF1) and Type 2 (NF2) found that those affected by neurofibromatosis consistently reported lower QoL scores compared to control groups. This finding was further supported by the accompanying meta-analysis, which indicated that adults with neurofibromatosis (NF) exhibited lower QoL levels than children. These results suggest that NF has a detrimental impact on overall well-being, potentially affecting physical, emotional, and cognitive functioning in affected individuals. The authors also underscored the scarcity of studies specifically focused on children with NF⁷, highlighting the urgent need to promote further research in this population. Moreover, the integration of already validated treatments—such as those available for plexiform neurofibromas (PN)—into both private healthcare services and the Brazilian Unified Health System (SUS) may play a critical role in enhancing QoL outcomes for individuals living with the condition⁴.
Given the complexity of the disorder and its wide-ranging implications, continuous multidisciplinary follow-up is essential for all individuals living with NF1, with the aim of facilitating the early identification and management of potential complications. Consequently, both individuals with NF1 and their support networks often make frequent and repeated use of diverse healthcare services. This broader health–illness context, coupled with the challenges of living with a chronic, incurable condition that has limited therapeutic options, significantly affects daily life and often leads to a diminished QoL⁶⁻⁸. Accordingly, the objective of this Scoping Review is to map the key concepts and findings related to the QoL of children, adolescents, and young adults with NF1, and to identify current gaps in the existing literature on this topic.
METHOD
This study is a scoping review of the literature. Scoping reviews are utilized to map the key concepts that structure and inform a specific field of research, as well as to clarify operational definitions and delineate the conceptual boundaries of a given topic⁹. They have gained increasing recognition in the academic literature due to their significant potential to support clinical practice among healthcare professionals and to guide the development of future research by scholars¹⁰.
This scoping review was conducted in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P)¹¹. PRISMA-P provides a checklist intended to guide the development of systematic review protocols, and its core principles can be adapted to the design of scoping reviews to promote greater methodological rigor.
Protocol and Registration
This scoping review was conducted in accordance with the methodological guidelines of the Joanna Briggs Institute (JBI)⁹. The findings were subsequently reported following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) checklist¹². The protocol for this review was registered on the Open Science Framework platform under registration number osf.io/vcqdx¹³ and published in the Online Brazilian Journal of Nursing⁸.
Research Question
The research question was developed using the PCC mnemonic, in which P stands for Population (children, adolescents, and young adults), C for Concept (Quality of Life), and C for Context (having NF1). The central research question guiding this review was: How has the Quality of Life of children, adolescents, and young adults with NF1 been addressed in Brazil and internationally?
Inclusion Criteria
Population
Studies involving children, adolescents, and young adults aged between 5 and 25 years diagnosed with NF1.
Concept
Studies primarily centered on the analysis of Quality of Life (QoL), regardless of how it is addressed, assessed, or interpreted.
Context
The scope of this review is limited to individuals diagnosed with NF1.
Types of Sources of Evidence
According to the JBI methodology, a scoping review is characterized by a broad scope and the use of less restrictive inclusion criteria. In line with this approach, evidence was gathered from a wide array of sources, encompassing a variety of study designs⁹.
Search Strategy
Guided by the PCC mnemonic, the search strategies were developed using DeCS/MeSH terms in Portuguese, English, and Spanish. The complete search strategy is presented in Table 1.
Table 1

Eligibility Criteria
Data were collected from the following databases: PubMed/MEDLINE, EMBASE, Web of Science, LILACS, and CINAHL. To capture grey literature, searches were also conducted in OpenGrey and Google Scholar. Studies published in Portuguese, English, or Spanish between January 2018 and June 2023—the month in which the searches were conducted—were considered eligible. It is important to highlight that, in the case of PubMed, the search strategy was based on metadata indexed by date of entry; therefore, articles published in 2017 but indexed in PubMed in 2018 were retrieved and included in this review. This Scoping Review incudes full-text published articles, preprints, online manuals, dissertations, and theses.
Study Selection
Following the database searches, all stages of eligible study selection were conducted systematically, in pairs, independently, and in a blinded manner, in accordance with JBI recommendations⁹, using the Rayyan tool. Any discrepancies between reviewers were resolved by consultation with a third reviewer. The inclusion process was systematized and adhered to the PRISMA Checklist¹⁴, as illustrated in Figure 1.
Figure 1

In the first stage, all retrieved studies underwent a screening process to identify and eliminate duplicates, which were documented and excluded. The second stage involved screening the titles and abstracts of the remaining records to determine their eligibility based on the predefined inclusion and exclusion criteria. This step was performed by a researcher trained in accordance with the guidelines outlined in this protocol. The selection process was conducted using the Rayyan tool, and in cases of uncertainty, the study was automatically forwarded to the third stage for full-text review.
The third stage of the study selection process consisted of a full-text review of all manuscripts identified during the previous screening phase. This stage was conducted in a blinded manner by two independent reviewers, with a third reviewer consulted to resolve any discrepancies regarding the inclusion or exclusion of studies. Manuscripts that aligned with the research objective and met the established inclusion criteria were selected for data extraction.
The data synthesis from the selected manuscripts is presented to offer a comprehensive, up-to-date, and systematized overview of the Quality of Life of children, adolescents, and young adults with NF1. To support this objective, a synoptic table (Table 2) was developed. The findings are discussed narratively, with the aim of elucidating the theoretical and methodological approaches employed in the studies addressing this research topic.
The studies were selected and assessed for quality using the Checklist for Analytical Cross-Sectional Studies developed by JBI¹⁵. Each study was evaluated with respect to the participants and settings, along with whether the exposure was measured in a valid and reliable manner, whether the criteria and measurements of the condition were appropriate, whether confounding factors were identified, whether strategies to address these factors were reported, whether the outcomes were measured validly and reliably, and whether appropriate statistical analysis was employed. Studies meeting more than 90% of these criteria were classified as high quality¹⁶. The Robvis Online tool¹⁷ was used to generate the quality assessment and risk of bias graph, with the assessment process adapted according to JBI guidelines¹⁵,¹⁶.
RESULTS
A total of 39 records were selected for eligibility assessment by two independent reviewers, resulting in an agreement rate of 89.7% (n = 35). Conflicting decisions occurred in 10.3% of cases (n = 4), which were referred to a third reviewer. Of these, 75% (n = 3) were excluded following the third reviewer\'s assessment. Ultimately, 20.5% (n = 8) of the records met the inclusion criteria established for this scoping review and were included in the analysis. The selected articles are presented in Table 2.
Table 2

Table 3 presents a traffic light chart summarizing the quality assessment of the evidence for each of the selected studies. Only one study²⁴ (12.5%) lacked sufficient information to
address all items on the JBI checklist and, as a result, did not meet the criteria for classification as high-quality evidence.
Table 3

Figure 2 presents a general summary of the quality of evidence assessment for all selected articles.
Figure 2

DISCUSSION
A look at the quality of life of healthy children, adolescents, and young adults compared to their peers with NF1
The Pediatric Quality of Life Inventory™ (PedsQL™) Generic Core Scales is a standardized instrument designed to assess overall QoL in children, adolescents, and young adults²⁶,²⁷. It is available in age-specific versions for individuals aged 5–7, 8–13, 14–17, and 18–25 years, with both self-report and parent-proxy formats. The questionnaire comprises items grouped into four subscales: physical health, emotional functioning, social functioning, and school/work activities. Responses are rated on a five-point Likert scale (0 = never, 1 = almost never, 2 = sometimes, 3 = often, 4 = almost always). For analysis, responses are transformed into scores (0 = 100, 1 = 75, 2 = 50, 3 = 25, 4 = 0), from which mean scores are calculated. According to the authors, higher mean scores (closer to 100) reflect better perceived quality of life. Results are reported as means and standard deviations²⁶,²⁷.
Cipolletta et al., in a study conducted in Italy¹⁸, administered the PedsQL™ Generic Core Scales to 120 participants, comprising 60 children, adolescents, and young adults with NF1 and 60 healthy controls. The findings revealed that individuals with NF1 scored lower across all domains of the PedsQL™ compared to their peers without the condition. Specifically, the mean scores for participants with NF1 versus healthy controls were as follows: physical health (76.12 ± 15.11 vs. 86.20 ± 10.78), emotional functioning (72.00 ± 18.55 vs. 79.90 ± 14.83), social functioning (78.58 ± 20.26 vs. 92.67 ± 10.43), and school activities (69.38 ± 17.01 vs. 79.33 ± 17.09).
Specificities of quality of life in NF1
Neurofibromatosis Type 1, as a condition with diverse and far-reaching implications, has a substantial impact on the QoL of affected individuals. Generic instruments, such as the PedsQL™ Generic Core Scales²⁶,²⁷, often fall short in capturing the full range of challenges experienced by this population. This limitation has prompted researchers to develop NF1-specific versions of these questionnaires.
The PedsQL™ Neurofibromatosis Module (PedsQL™ NF) was developed as a disease-specific instrument to assess the QoL of children, adolescents, and young adults with NF1, as well as to capture parental perceptions of their child’s QoL in the context of NF1²⁰,²¹. The PedsQL™ NF has been cross-culturally adapted and translated for use in several countries, including Brazil²⁵.
Additional instruments that may be used to assess the quality of life (QoL) in individuals living with NF1 include the Burden of Neurofibromatosis (BoN)²⁸ and the Impact of NF1 on Quality of Life (INF1-QOL)²⁹ questionnaires. Both tools were specifically developed for use in adults with NF1, aiming to quantify the burden of the disease²⁸ and to serve as validated measures of QoL in the context of clinical trials and therapeutic interventions²⁹.
The role of the family in the quality of life of children with NF1
The importance of research exploring parental perceptions of their children’s QoL in the context of NF1 is well established²⁰. Comparative analyses between self-reports of individuals with NF1 and caregiver-reported assessments provide valuable insights for the development of effective coping strategies and the implementation of targeted interventions aimed at improving QoL. Involving parents in such interventions may yield benefits not only for their children’s well-being but also for their own²⁰,²¹,²³.
Communication and health literacy as predictors of reduced quality of life in NF1
Health literacy refers to an individual’s capacity to obtain, process, and comprehend basic health information and services necessary for making informed health decisions. It plays a critical role not only in the management of personal health but also in navigating current and future healthcare needs. It encompasses both individual and systemic determinants, including the patient’s ability to communicate effectively with healthcare providers, cultural influences, and the structural complexities of the healthcare system³⁰.
A study involving 305 children, adolescents, and young adults with NF1, using both the PedsQL™ Generic Scores and the PedsQL™ NF, reported lower QoL scores in specific domains across age groups. Children aged 5 to 7 years exhibited lower scores in the “speech difficulties” domain, while those aged 8 to 12 and 18 to 25 years showed lower scores in the “health communication” domain²². In this context, learning difficulties were also identified as contributing factors to diminished QoL among school-aged children with NF1²⁴. The literature includes health education materials specifically designed for individuals living with NF1³¹,³², and promoting the dissemination of such resources may enhance health literacy in this population, thereby supporting improved quality of life.
Considerations on the quality of life of individuals living with NF1
The QoL of children, adolescents, and young adults with NF1 is generally diminished¹⁸–²⁴, underscoring the importance of understanding the multifaceted impact of the condition on affected individuals. One study¹⁷ suggests that physical malformations and cognitive impairments associated with NF1 may not, on their own, fully explain the observed decline in QoL. Instead, the presence of anxiety and depressive symptoms showed a stronger association with reduced QoL. Additionally, symptoms related to distorted self-image were more frequently reported among individuals with NF1¹⁸ compared to control participants, suggesting heightened concern among young people with NF1 about perceived bodily changes. Notably, when asked to draw themselves, participants with NF1 often emphasized disease-related physical features over other personal characteristics.
Clinical manifestations such as neurofibromas, optic pathway gliomas, and osseous abnormalities—including sphenoid wing dysplasia, anterolateral bowing of the tibia, and pseudarthrosis of long bones—can also negatively affect the QoL of individuals with NF1. For instance, neurofibromas located within the central nervous system may lead to more severe clinical outcomes⁴,¹⁸.
Studies highlight the need for interventions that address multiple dimensions of life for individuals with NF1, including academic settings, workplace environments, adaptive functioning, and social relationships. There is broad consensus on the importance of further research into the complex interplay of interpersonal factors that may influence QoL¹⁸,¹⁹. Such investigations are essential not only for advancing the understanding of the disease’s impact on QoL but also for guiding the development and validation of targeted interventions aimed at enhancing the well-being of individuals living with NF1³³.
In this context, a U.S.-based study aimed to assess the readiness for the transition to adulthood and the broader impact of NF1 on the lives of young adults. The majority of participants reported that the condition significantly affected multiple aspects of their lives, including education, career development, interpersonal relationships, and family planning. The study identified reduced readiness for adult life among individuals with NF1, which was associated with a negative impact on their QoL³³. Furthermore, the development of cutaneous neurofibromas during adolescence and into adulthood often leads to progressive disfigurement and physical discomfort—particularly when located on the face—further contributing to diminished QoL³⁴.
Pain has also been identified as a significant predictor of reduced QoL. These individuals scored lower on the pain subscale of the PedsQL™ NF, indicating that pain is a key contributor to diminished QoL¹⁹,²⁰,²³. Studies employing the PedsQL™ NF are valuable in enhancing the understanding of the multidimensional nature of NF1-specific symptoms—such as pain—and their association with cognitive impairments that adversely affect QoL¹⁹–²¹,²⁴.
A Phase 2 clinical trial⁴ evaluating the use of Selumetinib in children with plexiform neurofibromas (PN) demonstrated not only reductions in tumor size and improved physical appearance but also notable enhancements in participants’ QoL. These findings indicate that investing in treatments for NF1 yields benefits beyond symptom control, contributing meaningfully to improved QoL. This is particularly significant, as individuals often experience increased autonomy and well-being when symptoms are alleviated and physical appearance is improved—factors that frequently have the most profound impact on QoL⁴,¹⁸,³⁴.
In their study, Lai et al.¹⁹ emphasize that, in addition to pain, pruritus is a significant factor influencing social interactions with peers. Notably, individuals diagnosed before the age of five reported fewer symptoms—such as pain and pruritus—and achieved higher scores across all QoL subscales, with the exception of the social relationships domain. Within the same study, individuals with PN exhibited lower QoL scores¹⁹.
The well-being of individuals with NF1 should be a central focus of targeted intervention research aimed at improving health outcomes and enhancing QoL. Researchers⁷,¹⁹,²¹–²⁴ emphasize that the use of condition-specific assessment tools for individuals with NF1 is crucial for identifying those with greater needs for tailored interventions to enhance their QoL, thereby promoting a more individualized, person-centered approach to care. Furthermore, there is a critical need to develop strategies aimed at preventing potential complications associated with NF1, alongside sustained investment of resources and time to support individuals living with the condition in achieving a higher QoL⁷.
As a limitation of this study, it should be noted that access to articles published in additional languages might have enhanced the representativeness of perspectives from individuals with NF1 across different cultural backgrounds. Another limitation was the relatively small number of studies on this topic published within the past five years.
CONCLUSION
Based on the findings of this Scoping Review, it can be concluded that NF1 significantly impacts the quality of life of affected individuals, likely due to the complex and highly variable nature of the disease. Further research reflecting both the Brazilian context and that of other countries is needed to deepen the understanding of the disease’s impact and to support the development of intervention-focused studies aimed at improving the QoL of individuals living with NF1.
Moreover, studies focusing on health literacy within this population are essential to identify knowledge gaps and improve health communication, given that individuals with NF1 frequently interact with a wide range of healthcare services and levels of care. Empowering these individuals with knowledge about their condition can enhance their autonomy in treatment decision-making and deepen their understanding of the disease—efforts that may contribute to preserving their quality of life by enabling them to express themselves more effectively and better navigate the experience of living with NF1.

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