Evaluation of QoL in neurofibromatosis patients: a systematic review and meta-analysis study

Abstract

Background The neurofibromatoses (NF) are a group of genetic disorders that interfere negatively with the quality of life (QoL) and influence physical, emotional and social statuses. Studying the effects of neurofibromatoses on various aspects of QoL seems important to implement beneficial strategies in increasing the QoL of NF patients. The aim of this study was to review the literature on quality of life in patients with NF and quantitatively evaluate the effects of Neurofibromatosis on various aspects of quality of life by synthesizing available studies. Methods This article is written according to the PRISMA checklist. Different databases including PubMed, Scopus, Google scholar and Web of Science were searched to identify studies that examined QoL of patients with neurofibromatosis. The relevant data obtained from these papers were analyzed by a random-effects model. The heterogeneity of studies was calculated using the I 2 index and Egger test was used to determine publication bias. The information was analyzed by R and STATA Ver 14. Results Twelve studies were selected as eligible for this research and were included in the final analysis. The number of participants in the study was 7314 individuals containing 910 NF patients (642 NF1 and 268 NF2) and 6404 healthy subjects. The mean scores of sub-scales of QoL were significantly lower in NF patients compared with control except for the scale of cohesion. Family and NF patients had lower quality of life in all aspects of QoL than controls. Also, this meta-analysis shows that NF negatively effects on physical function, bodily pain, mental health, social function and general health. Subgroup analysis showed that NF had negative effects on all sub-scales of QoL if the study was conducted in adults and used a SF-36 questionnaire. Conclusion This meta-analysis suggests that NF is a broad spectrum disease, affecting physical function, bodily pain, mental health, social function and general health.

The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1

“…Although the anxiety measures used in this study have not been commonly used in population studies in NF1, the higher rate of anxiety in NF1 is consistent with previous literature [ 18 , 21 ]. Of interest, women with NF1 have previously been shown to display increased psychosocial, physical morbidity and decreased quality of life (QoL) [ 13 , 20 , 21 , 61 ] in contrast to other studies of women at increased breast cancer risk, where QoL scores are closer to the general population [ 38 ]. We propose that heightened anxiety and cancer worry may be related to the reported increased incidence of NF1-specific cognitive and mental health issues, as well as the poorer QoL associated with the condition [ 62 – 66 ].…”

“…Cognitive deficits normally manifest as mild intellectual impairment, learning difficulties or attentional difficulty [ 14 , 19 ], with 8% of individuals with NF1 intellectually disabled [ 19 ]. As NF1 impacts physical, cognitive and psychological functioning, it has been reported to have an adverse effect on quality of life [ 20 ]. It is also associated with higher rates of anxiety and depression than the general population, with anxiety and/or depressive symptoms identified in more than half of those from two adult NF1 cohorts [ 18 , 21 ].…”

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

“…Indications of higher levels of anxiety can contribute to lower QoL 6,8 ; however, more research is needed to evaluate how the barriers of employment can affect generalized anxiety. A recent metaanalysis concluded that QoL affects the well-being of the individual because of the impact onto physical, emotional, and cognitive functioning 31 . Looking at aggregate values, total barriers of employment were signi cantly higher for the control group than individuals with NF1, providing that while barriers such as physical, mental, social and societal pressures are constrained on individuals with NF1, the perception of work barriers may be perceived as secondary from a QoL perspective.…”

Executive functions and quality of life in children with neurofibromatosis type 1

“…Children with NF1 have an impaired quality of life (QoL) 2,3 . Neuropsychological and learning disorders are also frequent complications in these children (30-65% 4 ), especially when they involve executive functions (EFs) 5,6 .…”