The health‐related quality of life of children, adolescents, and young adults with neurofibromatosis type 1 and their families: Analysis of narratives

Draucker, Claire Burke; Nutakki, Kavitha; Varni, James W.; Swigonski, Nancy L.

doi:10.1111/jspn.12174

Cited by 20 publications

(16 citation statements)

References 26 publications

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“…These results are consistent with previous previous studies, which showed individuals with NF experience decreased QoL in all subdomains of QoL [4, 9, 19, 20, 23–25]. The studies have outlined a framework that included five domains reflecting the most important concerns: physical function impact, bodily pain, social functioning, sigma, and emotional distress [36]. A review study on functioning, disability and health in children with neurofibromatosis type 1 provided a beginning understanding of some QoL concerns from the perspectives of youth and their families [37].…”

Section: Discussionsupporting

confidence: 91%

“…In this study the patients and their families were most concerned about physical functioning, pain, appearance/disfigurement, social activity/role participation, stigma, anxiety and social relationships [38]. Another study conducted based on semi-structured interviews revealed additional areas of concern including cognitive functioning, family impact, and treatment burden [36]. Our findings and these results suggest that NF is a broad spectrum disease that represents a considerable burden for patients, affecting all aspects of life.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2019

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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.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

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

et al. 2019

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“…Children and adults with NF1 report a lower QoL in physical and mental domains (Vranceanu, Merker, Park, & Plotkin, 2013). The majority of studies exploring QoL in NF1 have been performed in children; all have demonstrated a diminished quality of life (Domon‐Archambault, Gagnon, Benoit, & Perreault, 2018; Draucker, Nutakki, Varni, & Swigonski, 2017; Graf, Landolt, Mori, & Boltshauser, 2006; Krab et al., 2009). Several studies have shown that child self‐reported QoL ratings were generally higher than parent and teacher reports, which may reflect cognitive deficits, self‐concept difficulties, or self‐protective mechanisms (Graf et al., 2006; Vranceanu, Merker, Park, & Plotkin, 2015).…”

Section: Genetic Counseling Processmentioning

confidence: 99%

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors

Radtke

Bergner

Goetsch

et al. 2020

Journal of Genetic Counseling

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The goal of this practice resource is to provide genetic counselors and other healthcare professionals with a resource to reference when providing genetic counseling services to individuals and families undergoing evaluation for neurofibromatosis (NF) or who have received a diagnosis of NF, including neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). Currently, there is no known standard approach to genetic counseling in NF. This resource may be useful in a number of different healthcare settings. 1.1.1 | Pediatric or adult genetic counseling session (general genetics or specialty clinic) These sessions may occur in conjunction with a diagnosing provider, such as a physician or nurse practitioner. • Diagnostic evaluation based on clinical features and/or family history.

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“…A distinguishing feature of the present study is the utilization of NF1‐specific multi‐item measurement scales as predictor and mediator variables, which were developed explicitly for NF1 through extensive cognitive interviews with children, adolescents, and young adults with NF1 (Draucker, Nutakki, Varni, & Swigonski, ; Nutakki, Varni, Steinbrenner, Draucker, & Swigonski, ), rather than using generic measures for these variables. We suggest that using NF1‐specific predictor and mediator variables provides more precise targets for interventions to improve overall generic HRQOL as the item content for these NF1‐specific scales were developed from the perspective of and close collaboration with youth with NF1 (Draucker et al, ; Nutakki et al, ), and subsequently field‐tested for reliability and validity in a national validation study (Nutakki, Varni, & Swigonski, ).…”

Section: Introductionmentioning

confidence: 99%

Speech difficulties and patient health communication mediating effects on worry and health‐related quality of life in children, adolescents, and young adults with Neurofibromatosis Type 1

Varni

Nutakki

Swigonski

2019

American J of Med Genetics Pt A

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The objective was to investigate the serial mediating effects of speech difficulties, patient health communication, and disease-specific worry in the relationship between neurofibromatosis (NF) symptoms (pain and skin symptoms) and total generic healthrelated quality of life (HRQOL) in children, adolescents, and young adults with NF Type 1 (NF1) from the patient perspective. The Speech, Communication, Worry, Pain, Skin Itch Bother, and Skin Sensations Scales from the Pediatric Quality of Life Inventory (PedsQL) NF1 Module and the PedsQL 4.0 Generic Core Scales were completed in a multi-site national study by 305 patients ages 5-25 years. A serial multiple mediator model analysis was conducted to test the hypothesized sequential mediating effects of speech difficulties, health communication, and worry as intervening variables in the association between NF1 symptoms and HRQOL. Symptoms predictive effects on total generic HRQOL were serially mediated by speech difficulties, patient health communication, and worry. In predictive analytics models utilizing hierarchical multiple regression analyses with age and gender demographic covariates, the pain, skin itch bother, and skin sensations multiple mediator models accounted for 61%, 59%, and 56% of the variance in generic HRQOL (p < .001), reflecting large effect sizes. Speech difficulties, patient health communication, and disease-specific worry explain in part the mechanism of symptoms predictive effects on total generic HRQOL in pediatric patients with NF1. Identifying NF1-specific predictors and serial mediators of total generic HRQOL in pediatric patients with NF1 from the patient perspective enables a patient-centered comprehensive care approach for children, adolescents, and young adults with NF1. K E Y W O R D S communication, health-related quality of life, neurofibromatosis, patient-reported outcomes, PedsQL, speech Abbreviations: HRQOL, health-related quality of life; NF1, Neurofibromatosis Type 1; PedsQL, Pediatric Quality of Life Inventory.The PedsQL is available at http://www.pedsql.org.

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The health‐related quality of life of children, adolescents, and young adults with neurofibromatosis type 1 and their families: Analysis of narratives

Abstract: Pediatric nurses should routinely assess for HRQoL in this population and develop strategies tailored to those concerns that require intervention.

Cited by 20 publications

References 26 publications

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

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

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors

Speech difficulties and patient health communication mediating effects on worry and health‐related quality of life in children, adolescents, and young adults with Neurofibromatosis Type 1

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