Quality of Life in Adults with Neurofibromatosis 1 in Brazil

Bicudo, Natália Parenti; NETO, BALDUINO FERREIRA DE MENEZES; Avó, Lucimar Retto da Silva de; Germano, Carla Maria Ramos; Melo, Débora Gusmão

doi:10.1007/s10897-016-9939-8

Cited by 23 publications

(42 citation statements)

References 37 publications

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“…Given the prevalence, duration and severity of pain symptoms within individuals of NF1 pain symptoms directly affect the quality of life of these individuals. Previous research has shown the impact of NF1 on quality of life8,16 and life expectancy;17 yet, further research is necessary to evaluate the relationship between pain severity and quality of life/expectancy. Moreover, a better understanding of the relationship between psychological disorders, ie, depression and anxiety, and pain symptoms within NF1, is needed.…”

Section: Discussionmentioning

confidence: 99%

<p>Pain symptomology, functional impact, and treatment of people with Neurofibromatosis type 1</p>

Buono¹,

Grau²,

Sprong³

et al. 2019

JPR

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IntroductionNeurofibromatosis type 1 (NF1) is a neurogenetic disorder affecting 1 in 3000 people worldwide, where individuals are prone to develop benign and malignant tumors. In addition, many people with NF1 complain of pain that limits their daily functioning. Due to the complexity of the disorder, there are few options for treating pain symptoms besides surgery and medications. Moreover, the spectrum of pain symptomatology and treatment, as well as the mechanisms underlying NF1-associated pain, has been understudied.MethodologyTo address this knowledge gap, we conducted a survey of 255 adults with NF1, leveraging the Washington University NF1 Patient Registry Initiative (NPRI) database. Demographic and pain data were collected using a Qualtrics survey.ResultsAll participants had at least one surgical procedure, with 55% reporting having at least one surgery within the last year and 17% being currently prescribed opioid medication. A positive relationship was shown (p<0.001) between those prescribed prescription pain medication, and their pain severity and interference. Moreover, there was a significant relationship (p=0.049) between the usage of complementary treatments and pain severity and interference.ConclusionThe current study demonstrates that individuals with NF1 report a higher incidence of pain severity and interference than observed in NF1 previous studies, with pain symptoms not localized to any specific region of the body. The consideration for alternative treatments and careful monitoring of current treatments that are more conservative or have less potential adverse side effects may improve pain management and reduce the risk of developing medication dependence.

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Section: Discussionmentioning

confidence: 99%

<p>Pain symptomology, functional impact, and treatment of people with Neurofibromatosis type 1</p>

Buono¹,

Grau²,

Sprong³

et al. 2019

JPR

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“…12,16 The prevalence of pain in patients with NF1 is unknown but quality of life-based questionnaires in Australia, Brazil, France, Italy, the United Kingdom, and the United States consistently identify both the intensity and quality of pain as having a major impact on patients with NF1. 1,11,21,22,30,54,63,64…”

Section: Introductionmentioning

confidence: 99%

CRISPR/Cas9 editing of Nf1 gene identifies CRMP2 as a therapeutic target in neurofibromatosis type 1-related pain that is reversed by (S)-Lacosamide

Moutal¹,

Yang²,

Li³

et al. 2017

Pain

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Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease linked to mutations of the Nf1 gene. Patients with NF1 commonly experience severe pain. Studies on mice with Nf1 haploinsufficiency have been instructive in identifying sensitization of ion channels as a possible cause underlying the heightened pain suffered by patients with NF1. However, behavioral assessments of Nf1 mice have led to uncertain conclusions about the potential causal role of Nf1 in pain. We used the clustered regularly interspaced short palindromic repeats (CRISPR)-associated 9 (CRISPR/Cas9) genome editing system to create and mechanistically characterize a novel rat model of NF1-related pain. Targeted intrathecal delivery of guide RNA/Cas9 nuclease plasmid in combination with a cationic polymer was used to generate allele-specific C-terminal truncation of neurofibromin, the protein encoded by the Nf1 gene. Rats with truncation of neurofibromin, showed increases in voltage-gated calcium (specifically N-type or CaV2.2) and voltage-gated sodium (particularly tetrodotoxin-sensitive) currents in dorsal root ganglion neurons. These gains-of-function resulted in increased nociceptor excitability and behavioral hyperalgesia. The cytosolic regulatory protein collapsin response mediator protein 2 (CRMP2) regulates activity of these channels, and also binds to the targeted C-terminus of neurofibromin in a tripartite complex, suggesting a possible mechanism underlying NF1 pain. Prevention of CRMP2 phosphorylation with (S)-lacosamide resulted in normalization of channel current densities, excitability, as well as of hyperalgesia following CRISPR/Cas9 truncation of neurofibromin. These studies reveal the protein partners that drive NF1 pain and suggest that CRMP2 is a key target for therapeutic intervention.

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“…They were concerned about the uncertainty of disease progression and the risk of passing on NF1 to their offspring. A Brazilian study of NF1 adults used the generic WHOQOL-100 and semi-structured interviews [ 7 ]. Patients were apprehensive about disease visibility affecting social relationships.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the Impact of NF1 on Quality Of Life (INF1-QOL) questionnaire

Ferner

Thomas

Mercer

et al. 2017

Health Qual Life Outcomes

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BackgroundNeurofibromatosis 1 (NF1) is an inherited, multi-system, tumour suppressor disorder with variable complications that cause psychological distress and social isolation. The study aim was to develop and validate a disease-specific questionnaire to measure quality of life (QOL) in NF1 that is suitable both as an assessment tool in clinical practice and in clinical trials of novel therapy.MethodsThe Impact of NF1 on Quality of Life (INF1-QOL) questionnaire was developed by a literature search for common terms, focus group (n = 6), semi-structured interviews (n = 21), initial drafts (n =50) and final 14 item questionnaire (n = 50). Bivariate correlations between items, exploratory factor analysis, correlations with severity and EuroQol were employed.ResultsINF1-QOL showed good internal reliability (Cronbach’s alpha 0.87), mean total INF1-QOL score was 8.64 (SD 6.3), median 7.00, range 0–30 (possible range 0–42); no significant correlations with age or gender. The mean total EuroQol score was 7.38 (SD 2.87), median 6.5, mean global EuroQol score was 76.34 (SD 16.56), median 80. Total INF1-QOL score correlated with total EuroQol r = 0.82, p < 0.0001. The highest impact on QOL was moderate or severe problems with anxiety and depression (32%) and negative effects of NF1 on role and outlook on life (42%). The mean inter-relater reliability for grading of clinical severity scores was 0.71 (range 0.65-0.79), and intra-class correlation was 0.92. The mean clinical severity score was 1.95 (SD 0.65) correlating r = 0.34 with total INF1-QOL score p < 0.05 and correlated 0.37 with total EuroQol score p < 0.01. The clinical severity score was mild in 17 (34%), moderate in 16 (32%) and 17 (34%) individuals had severe disease.ConclusionsINF1-QOL is a validated, reliable disease specific questionnaire that is easy and quick to complete. Role and outlook on life and anxiety and depression have the highest impact on QOL indicating the variability, severity and unpredictability of NF1. INFI-QOL correlates moderately with clinical severity. The moderate relationship between INF1-QOL and physician rated severity emphasizes the difference between clinical and patient perception. INFI-QOL will be useful in individual patient assessment and as an outcome measure for clinical trials.Electronic supplementary materialThe online version of this article (doi:10.1186/s12955-017-0607-y) contains supplementary material, which is available to authorized users.

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Quality of Life in Adults with Neurofibromatosis 1 in Brazil

Cited by 23 publications

References 37 publications

<p>Pain symptomology, functional impact, and treatment of people with Neurofibromatosis type 1</p>

<p>Pain symptomology, functional impact, and treatment of people with Neurofibromatosis type 1</p>

CRISPR/Cas9 editing of Nf1 gene identifies CRMP2 as a therapeutic target in neurofibromatosis type 1-related pain that is reversed by (S)-Lacosamide

Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the Impact of NF1 on Quality Of Life (INF1-QOL) questionnaire

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