Quality of life in neurofibromatosis 1: development and validation of a tool dedicated to cutaneous neurofibromas in adults.

BACKGROUND: Cutaneous neurofibromas (cNF), present in 95% of individuals with neurofibromatosis 1 (NF1), are considered as one of the greatest medical burden because of physical disfigurement. No specific score evaluates their impact on quality of life (QoL). OBJECTIVE: To develop a specific score assessing cNF-related QoL. METHODS: Through a multidisciplinary workshop including 10 patients, 3 expert-in-NF1 physicians, 3 health care workers (nurses and psychologist) and 1 methodologist, the French version of the Skindex-16 was modified by adding 3 items. The new cNF-Skindex was validated among patients with NF1 recruited in the ComPaRe online cohort, in France (N = 284). Construct validity was assessed by comparing it with the EQ-5D-5L, its visual analogue scale and the MYMOP2 and by assessing its association with patients' characteristics. Reliability was assessed by a test-retest. An English version of the tool was developed using a back-forward translation. RESULTS: A total of 228 individuals with NF1, with cNF answered the 19-item questionnaire. These items fitted into 3 domains: emotions, symptoms, functioning. One was dropped during analysis because >90% responders were not concerned. The cNF-Skindex significantly correlated with the EQ-5D-5L (N = 193) and MYMOP2 (N = 210) indicating good external validity: rs 0.38 (P < 0.001), and 0.58 (P < 0.001), respectively. Having >50 cNF was the only independent variable associated with the total score cNF-Skindex (ß = 15.88, 95%CI 6.96-24.81, P = 0.001), and with the 3 sub-scores: 'functioning' (ß = 2.65, 95%CI 0.71-4.59, P = 0.008), 'emotions' (ß = 17.03, 95%CI 4.11-29.96, P = 0.010) and 'symptoms' (ß = 3.90, 95%CI 1.95-5.85, P < 0.001). Test-retest reliability (N = 133) found an ICC at 0.96 demonstrating good reproducibility. CONCLUSION: The cNF-Skindex demonstrated excellent psychometric properties. The global and sub-scores were increased with higher number of cNF arguing for its use in further trials aiming to reduce their number or prevent their development. Cross-cultural validation and evaluation of its responsiveness are the next steps.

Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients.

BACKGROUND: Neurofibromatosis 1 (NF1) is one of the most common inherited disorders characterized by mutations in the tumour suppressor gene NF1. Its clinical manifestations are highly variable and unpredictable. A specific NF1 mutation does not predict the severity or complications of the disease. OBJECTIVE: The objective of this study was to build an empirical classification scheme without any a priori hypotheses to identify the underlying NF1 subtypes that best explain the observed heterogeneity. METHODS: We performed latent class analysis (LCA) of 1351 consecutive NF1 patients aged >17 years seen between 2002 and 2014. Data and phenotypic features were collected prospectively on a standardized form. RESULTS: The median age was 36.8 (17-81) years. A three-class model showed the best fit: 706 (52%) belonged to the LC1 'Cutaneous neurofibromas' class having preferentially cutaneous neurofibromas (99%), plexiform neurofibromas (63%) and blue-red macules (29%); 593 (44%) belonged to the LC2 'Subcutaneous neurofibromas' class characterized by the presence of at least 10 subcutaneous neurofibromas (21%) and a familial form (77%) and 52 (4%) belonged to the LC3 'Dysmorphic phenotype' class characterized by dysmorphic features (78%) and learning difficulties (87%). Patients in LC1 had a higher likelihood of developing scoliosis (RR = 1.7, 95% confidence interval (CI) [1.2-2.4]). Patients in LC2 were more likely to be men (RR = 1.4, 95% CI [1.1-1.7]). Patients in LC3 were at higher risk of having an optic pathway glioma (RR = 4.8, 95% CI [1.9-11.8]) and epilepsy (RR = 4.5, 95% CI [1.8-11.6]). CONCLUSION: Our findings invite the performance of a larger cohort study to test whether the various latent classes reflect different underlying genetic modifiers of these phenotypic traits.

Mortality in hip fracture patients after implementation of a nurse practitioner-led orthogeriatric care program: results of a 1-year follow-up.

BACKGROUND: Hip fractures are a major cause of mortality and disability in frail older adults. Therefore, orthogeriatrics has been embraced to improve patient outcomes. With the optimal template of orthogeriatric care still unknown, and to curtail rising healthcare expenditure we implemented a nurse practitioner-led orthogeriatric care program (NPOCP). The objective was to evaluate NPOCP by measuring 3-month and 1-year mortality, compared to usual care (UC). In addition, length of stay (LOS) and location of hospital discharge were reported. METHODS: An anonymised data set, of hip fracture patients (n = 300) who presented to Maastricht University Medical Centre, the Netherlands, a level-1 trauma centre, was used. NPOCP was implemented on one of two surgical wards, while the other ward received UC. Patient allocation to these wards was random. RESULTS: In total, 144 patients received NPOCP and 156 received UC. In the NPOCP, 3-month and 1-year mortality rates were 9.0% and 13.9%, compared to 24.4% and 34.0% in the UC group (P < 0.001). The adjusted hazard ratio (aHR) for 3-month (aHR 0.50 [95%CI: 0.26-0.97]) and 1-year mortality (aHR 0.50 [95%CI: 0.29-0.85]) remained lower in NPOCP compared to UC. Median LOS was 9 days [IQR 5-13] in patients receiving UC and 7 days [IQR 5-13] in patients receiving NPOCP (P = 0.08). Thirty-eight (27.5%) patients receiving UC and fifty-seven (40.4%) patients receiving NPOCP were discharged home (P = 0.023). CONCLUSION: Implementation of NPOCP was associated with significantly reduced mortality in hip fracture patients and may contribute positively to high-quality care and improve outcomes in the frail orthogeriatric population.

Screening for Frailty in Hospitalized Older Adults: Reliability and Feasibility of the Maastricht Frailty Screening Tool for Hospitalized Patients (MFST-HP).

As nurses in hospitals are confronted with increasing numbers of older patients, their geriatric nursing skills and knowledge must be integrated into daily clinical practice. Early risk identification via screening tools may help improve geriatric care. To reduce the assessment burden of nurses, the Maastricht Frailty Screening Tool for Hospitalized Patients (MFST-HP) was developed. The aim of the current study was to explore aspects of reliability, validity, and feasibility of the MFST-HP. Intrarater reliability was assessed by measuring patients two times within 24 hours. Interrater reliability was assessed by having patients screened by two different nurses. Construct validity was studied by the associations between the MFST-HP scores and age and comorbidities. Intraclass correlation coefficients for both intra- and interrater reliability were good (>0.93). Older patients and those with more comorbidity showed higher scores on the MFST-HP compared to younger patients and those with less comorbidity. The MFST-HP shows promise as a reliable, valid, and feasible screening tool for frailty among hospitalized older adults. [Res Gerontol Nurs. 2016; 9(5):243-251.].