Development of the Cystic Fibrosis Questionnaire-Revised-8 Dimensions: Estimating Utilities From the Cystic Fibrosis Questionnaire-Revised.

OBJECTIVES: Cystic fibrosis (CF) limits survival and negatively affects health-related quality of life (HRQOL). Cost-effectiveness analysis (CEA) may be used to make reimbursement decisions for new CF treatments; nevertheless, generic utility measures used in CEA, such as EQ-5D, are insensitive to meaningful changes in lung function and HRQOL in CF. Here we develop a new, CF disease-specific, preference-based utility measure based on the adolescent/adult version of the Cystic Fibrosis Questionnaire-Revised (CFQ-R), a widely used, CF-specific, patient-reported measure of HRQOL. METHODS: Blinded CFQ-R data from 4 clinical trials (NCT02347657, NCT02392234, NCT01807923, and NCT01807949) were used to identify discriminating items for a classification system using psychometric (eg, factor and Rasch) analyses. Thirty-two health states were selected for a time trade-off (TTO) exercise with a representative sample of the UK general population. TTO utilities were used to estimate a preference-based scoring algorithm by regression analysis (tobit models with robust standard errors clustered on participants with censoring at -1). RESULTS: A classification system with 8 dimensions (CFQ-R-8 dimensions; physical functioning, vitality, emotion, role functioning, breathing difficulty, cough, abdominal pain, and body image) was generated. TTO was completed by 400 participants (mean age, 47.3 years; 49.8% female). Among the regression models evaluated, the tobit heteroscedastic-ordered model was preferred, with a predicted utility range from 0.236 to 1, no logical inconsistencies, and a mean absolute error of 0.032. CONCLUSION: The CFQ-R-8 dimensions is the first disease-specific, preference-based scoring algorithm for CF, enabling estimation of disease-specific utilities for CEA based on the well-validated and widely used CFQ-R.

Development and Validation of a Parenting Stress Module for Parents of Children Using Cochlear Implants.

OBJECTIVES: The purpose of this study was to develop and validate a cochlear implant (CI)-specific parenting stress measure using the FDA Guidance on Patient-Reported Outcomes (2009). METHODS: The development and psychometric validation of the Parenting Stress-CI module for both the Early Childhood (EC; 0-5 years) and School-Age (SA; 6-12 years) versions are reported in this article. Instrument development consisted of qualitative interviews with parents of children with CIs (EC: N = 19; SA: N = 21), content analysis, item development, and cognitive testing of the instrument. Last, we conducted the psychometric validation (EC: N = 72; SA: N = 64), including analyses of internal consistency, test-retest reliability (∼2 weeks between administrations; N = 24), and convergent validity with the Parenting Stress Index-4 (PSI-4). RESULTS: The final EC version includes 15 questions, and the SA version includes 8 questions. Both the EC and SA versions had strong reliability (EC α = .88; SA α = .85), with all items significantly correlated with the overall module (r = .43-.80). Both versions also had strong test-retest reliability (r = .99, p < .001). Last, analyses of convergent validity demonstrated significant correlations with the PSI-4 Total Stress scale for both Parenting Stress-CI versions (EC r = .66, p < .00; SA r = .45, p < .001). CONCLUSIONS: The Parenting Stress-CI modules are reliable and valid condition-specific parenting stress instruments for parents of children with CIs ages 0-12 years, filling a significant gap in the literature. These fully validated instruments can be used to assess parental needs for support and guide the development of targeted, family centered interventions.

Quality of Life-CI: Development of an Early Childhood Parent-Proxy and Adolescent Version.

OBJECTIVES: Severe to profound hearing loss is associated with communication, social, and behavioral difficulties that have been linked to worse health-related quality of life (HRQoL) compared to individuals with normal hearing. HRQoL has been identified as an important health outcome that measures functional ability, particularly for chronic conditions and disabilities. The current study developed the QoL-cochlear implant (CI) for early childhood and adolescents using the recommended Food and Drug Administration and European Medicines Agency guidelines on patient-reported outcomes. DESIGN: Three phases of instrument development were conducted for both the early childhood (0 to 5 years old; parent proxy) and adolescent/young adult (13 to 22 years old) versions of the QoL-CI. Phase 1 included the development of our conceptual framework, which informed the discussion guides for stakeholder focus groups (e.g., audiologists, physicians, and therapists) at CI clinics in Miami and Philadelphia (n = 39). Open-ended interviews with parents (N = 18 for early childhood; N = 6 for adolescent/young adult version) and adolescents/young adults using CIs (n = 17) were then completed at both sites during phase 2. All interviews were transcribed and coded to identify common themes, which were then used to draft items for the QoL-CI. Both versions of the QoL-CI were developed using Qualtrics to allow for quick, easy electronic administration of the instruments on a tablet device. Last, phase 3 included cognitive testing in a new sample (N = 19 early childhood, N = 19 adolescent) to ensure that the draft instruments were clear, comprehensive, and easy to use. RESULTS: Participant responses obtained via the open-ended interviews yielded an early childhood and adolescent version of the QoL-CI that was reportedly easy to complete and comprehensive. The final QoL-CI Early Childhood instrument yielded 35 questions across eight functional domains (environmental sounds, communication, social functioning, behavior, CI device management and routines, school, CI benefits, and early intervention). Similarly, the final QoL-CI adolescent/young adult version consisted of 46 items across eight domains (noisy environments, communication, CI usage and management, advocacy, social functioning, emotional functioning, acceptance, and independence). CONCLUSIONS: The QoL-CI is a condition-specific QoL instrument that can be used for children ages birth through 22 years. These instruments capture the "whole" child by not only focusing on communication and auditory skills but also academic, social and emotional functioning. Once validated, these CI-specific measures will enable providers to track long-term outcomes and evaluate the efficacy of new interventions to improve overall CI use and QoL for pediatric and young adult users.

Preliminary validation of the NTM Module: a patient-reported outcome measure for patients with pulmonary nontuberculous mycobacterial disease.

INTRODUCTION: Nontuberculous mycobacteria (NTM) cause chronic, debilitating pulmonary disease. Patient-reported outcomes provide measures of symptoms, functioning and treatment response. Here we describe the preliminary validation of the recently developed NTM Module. METHODS: The study population included Northwest NTM Biobank patients in whom Mycobacterium avium complex (MAC) was isolated and who had ever met the 2007 American Thoracic Society/Infectious Diseases Society of America pulmonary disease criteria. The NTM Module was administered at enrolment and 12 months; a subset also completed the Quality of Life Questionnaire-Bronchiectasis (QOL-B). The NTM Module generates four domain scores (0-100; higher scores indicate better functioning) reflecting NTM-specific symptoms (NTM Symptoms, Body Image, Digestive Symptoms and Eating Problems). We described patient characteristics and mean scores, and evaluated psychometric properties, including response to treatment at 12 months, for each domain. RESULTS: Overall, 203 patients with pulmonary MAC disease were included. Average enrolment scores ranged from 76 (NTM Symptoms) to 84 (Eating Problems). Ceiling effects were observed for Body Image (26% of participants) and Eating Problems (52%). Internal consistency (Cronbach's alpha) ranged from 0.67 (Digestive Symptoms) to 0.89 (Eating Problems). The intraclass correlation for test-retest reproducibility (n=27) ranged from 0.72 (Body Image) to 0.94 (Eating Problems). Patients starting treatment (n=35) had statistically significant increases in scores for NTM Symptoms (+5, p=0.04), Digestive Symptoms (+7, p=0.002), Body Image (+7, p=0.03) and QOL-B Respiratory Symptoms (n=25, +10, p=0.006). NTM Symptoms scores increased by 15 points (p=0.002) in the 16 patients with scores ≤80 at enrolment. CONCLUSION: The NTM Module generally performs well as a valid patient-reported outcome for pulmonary MAC disease and was responsive to MAC treatment.

Quality of Life Questionnaire-Bronchiectasis: a study of the psychometric properties of the Brazilian Portuguese version.

OBJECTIVE: To evaluate the psychometric properties of the Brazilian Portuguese version of the Quality of Life Questionnaire-Bronchiectasis. DESIGN: Cross-sectional study. SETTING: Outpatient clinic. SUBJECTS: Clinically stable individuals with a diagnosis of bronchiectasis. MEASURES: The evaluations performed were spirometry, incremental shuttle walk test, Saint George's Respiratory Questionnaire, and the modified Medical Research Council dyspnea scale. The Quality of Life Questionnaire-Bronchiectasis was administered twice (seven to 14 days apart). Psychometric analyses were performed as follows: reliability, construct validity, criterion validity, and interpretability. RESULTS: In total, 108 individuals (48 ± 14 years, 61 women) participated in the study. Internal consistency was considered adequate (Cronbach's alpha ⩾ 0.70) for the majority of scales (from 0.58 to 0.93). Test-retest coefficients were moderate to excellent (intraclass correlation coefficients from 0.70 to 0.93). In the construct validity, 35 of 37 items correlated more strongly with their assigned scale than a competing scale. The convergent validity showed significant correlations between scales of the Quality of Life Questionnaire-Bronchiectasis with modified Medical Research Council dyspnea scale, and incremental shuttle walk test (r from 0.20 to 0.59). A low to moderate correlations was revealed between all scales of the Quality of Life Questionnaire-Bronchiectasis and the Saint George's Respiratory Questionnaire domains (r from 0.26 to 0.70). The standard error of measurement was acceptable. Ceiling effects were found for the Social Functioning and Treatment Burden scales. CONCLUSIONS: The Quality of Life Questionnaire-Bronchiectasis is a reliable, valid instrument with adequate internal consistency for the evaluation of the impact of bronchiectasis on the health-related quality of life of Brazilian adults.

Understanding access to genomics in an ethnically diverse south Florida population: A comparison of demographics in odyssey and rapid whole genome sequencing programs.

Advances in genomic medicine have evolved to include rapid whole genome sequencing (rWGS) in pediatric intensive care settings. Traditionally, genetic testing was conducted in outpatient clinics, with stepwise genetic testing occurring over several years. This delayed the time to diagnosis, making it more difficult to include underrepresented groups, such as those who identify as Black and Latinx. National genetic sequencing programs have also struggled to engage these participants in their studies, leading to a significant disparity in access to new genetic technologies. The purpose of our study was to compare the demographic characteristics of families enrolled in both an Odyssey Program (N = 46), defined as outpatients in the Genetics Clinic who have had prior genetic testing, and a newly implemented rWGS (N = 52) sequencing program. Despite living in a large, ethnically diverse city, our results indicated that parents in the Odyssey program differed significantly from parents in the rWGS program in level of education, family income, and insurance status. For example, 71.5% of parents in the diagnostic Odyssey program had a college or advanced degree, whereas 42% of parents in the rWGS program had this level of education. Family income and insurance also differed, with 48.6% of families in the Odyssey program earning $100,000 or more versus 28.2% in rWGS; 56% of parents in the Odyssey program had private insurance with 26% on Medicaid whereas only 23% of parents in rWGS had private insurance, with the vast majority of children on Medicaid (69%). Thus, our Odyssey program illustrates some of the common pitfalls in implementing genomic testing in an ethnically diverse community, including lack of referrals, travel to outpatient visits, and a cultural mismatch with providers. The successful enrollment of underrepresented groups in the rWGS program demonstrates that given the opportunity to participate in genetic testing, families are interested and aware of the potential benefits of this testing for their child. As genomic sequencing transitions from outpatient to inpatient settings, an opportunity arises to close the health disparity gap. Recommendations for implementing rWGS in pediatric, intensive care settings that address the common barriers faced by underrepresented families are discussed.

Introduction to Cystic Fibrosis for Mental Health Care Coordinators and Providers: Collaborating to Promote Wellness.

To maximize health, individuals with cystic fibrosis (CF) follow a complex, burdensome daily care regimen. Managing CF is associated with a range of significant biopsychosocial challenges and places individuals with CF, and their caregivers, at greater risk for developing anxiety and depression. To promote wellness and address the potential barriers that affect management of this complex chronic illness, many individuals would benefit from treatment from a behavioral health provider. Social workers within multidisciplinary CF care teams are well positioned to respond to this need, and an expanding number of social workers serving as behavioral health providers in the community will be sought as a resource to provide treatment to this population. This article serves as a primer for social workers to maximize knowledge of the psychosocial and potential behavioral health needs of individuals with CF across the life span. To best support individuals with CF, authors describe the disease-specific manifestations and outline the numerous potential clinical targets for social work to promote wellness. The article concludes by highlighting the importance of communication with the medical team and considerations for effective collaborative care.

Prospective multicenter randomized patient recruitment and sample collection to enable future measurements of sputum biomarkers of inflammation in an observational study of cystic fibrosis.

BACKGROUND: Biomarkers of inflammation predictive of cystic fibrosis (CF) disease outcomes would increase the power of clinical trials and contribute to better personalization of clinical assessments. A representative patient cohort would improve searching for believable, generalizable, reproducible and accurate biomarkers. METHODS: We recruited patients from Mountain West CF Consortium (MWCFC) care centers for prospective observational study of sputum biomarkers of inflammation. After informed consent, centers enrolled randomly selected patients with CF who were clinically stable sputum producers, 12 years of age and older, without previous organ transplantation. RESULTS: From December 8, 2014 through January 16, 2016, we enrolled 114 patients (53 male) with CF with continuing data collection. Baseline characteristics included mean age 27 years (SD = 12), 80% predicted forced expiratory volume in 1 s (SD = 23%), 1.0 prior year pulmonary exacerbations (SD = 1.2), home elevation 328 m (SD = 112) above sea level. Compared with other patients in the US CF Foundation Patient Registry (CFFPR) in 2014, MWCFC patients had similar distribution of sex, age, lung function, weight and rates of exacerbations, diabetes, pancreatic insufficiency, CF-related arthropathy and airway infections including methicillin-sensitive or -resistant Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia cepacia complex, fungal and non-tuberculous Mycobacteria infections. They received CF-specific treatments at similar frequencies. CONCLUSIONS: Randomly-selected, sputum-producing patients within the MWCFC represent sputum-producing patients in the CFFPR. They have similar characteristics, lung function and frequencies of pulmonary exacerbations, microbial infections and use of CF-specific treatments. These findings will plausibly make future interpretations of quantitative measurements of inflammatory biomarkers generalizable to sputum-producing patients in the CFFPR.

Health-Related Quality of Life Instruments for Children With Cochlear Implants: Development of Child and Parent-Proxy Measures.

OBJECTIVES: Severe to profound hearing loss is associated with worse health-related quality of life (HRQoL), reflecting the wide-ranging effects of deafness on spoken language, cognition, and social/behavioral development. However, there are currently no cochlear implant (CI)-specific HRQoL measures that were developed using the Food and Drug Administration Guidance on patient-reported outcomes. This study developed the first HRQoL instruments (CI-QoL) for children with CIs, ages 6 to 12, and a parent-proxy measure for this age group. DESIGN: Two phases of instrument development were conducted. Phase 1 consisted of a literature review yielding a conceptual framework and discussion guides to elicit information from stakeholder focus groups at CI clinics in Miami and Philadelphia (n = 30; e.g., physicians, speech pathologists). During phase 2, open-ended interviews were conducted with 21 parent-child dyads (M child age = 9.1 years) recruited from these two clinics. Interviews were transcribed, followed by content analysis in NVivo to identify the most frequent and difficult themes. Items were then derived from these themes to form the initial draft instruments. A multimodal approach was used to create the child-report version (i.e., pictorial representations, audio recording of items, written text above the drawings) to maximize comprehension and ease of responding. Both measures were developed to be administered electronically on a tablet device. In phase 3, a new set of parent-child dyads (n = 20; child age M = 9.2 years) completed a cognitive testing protocol to ensure clarity, ease of use, and comprehensiveness. Cognitive testing led to revisions and finalization of the instruments. RESULTS: The final self-report measure contained 33 items across eight domains: Noisy Environments, Academic Functioning, Child Acceptance, Oral Communication, Social Functioning, Fatigue, Emotional Functioning, and Device Management. The final parent-proxy measure included 42 items on nine scales: the same eight scales that appear on the child version, with the addition of Behavior Problems. Correlations between child and parent reports on each scale ranged from r = 0.08 to 0.48. CONCLUSIONS: CI-specific HRQoL instruments have now been developed for school-age children with CIs, with an accompanying parent-proxy version. After a psychometric validation, these CI-specific measures will enable us to track long-term outcomes, evaluate the efficacy of interventions to improve CI use (e.g., single versus bilateral implantation, AV therapy, maternal sensitivity training), and provide a profile of the "whole child's" functioning to facilitate care.

Identifying Factors that Facilitate Treatment Adherence in Cystic Fibrosis: Qualitative Analyses of Interviews with Parents and Adolescents.

Cystic fibrosis (CF) is a progressive, genetic disease affecting multiple organ systems. Treatments are complex and take 2-4 h per day. Adherence is 50% or less for pulmonary medications, airway clearance, and enzymes. Prior research has identified demographic and psychological variables associated with better adherence; however, no study has extensively identified facilitators of treatment adherence (e.g., adaptive behaviors and cognitions) in a sample of parents and adolescents. Forty-three participants were recruited from four CF centers as part of a larger measurement study. Participants included 29 parents (72% mothers; 72% Caucasian) and 14 adolescents (ages 11-20, 64% female, 71% Caucasian). Participants completed semi-structured interviews to elicit barriers to adherence. However, facilitators of adherence naturally emerged, therefore indicating need for further exploration. Interviews were audiotaped, transcribed and content-analyzed in NVivo to identify those behaviors and beliefs that facilitated adherence, using a phenomenological analysis. Frequencies of these themes were tabulated. Nine themes emerged, with individual codes subsumed under each. Themes included social support, community support, organizational strategies, "intrinsic characteristics," combining treatments with pleasurable activity, flexibility, easier or faster treatment, prioritizing treatments, and negative effects of non-adherence. Results demonstrated the importance of identifying strategies that positively affect adherence. Interventions that are strength-focused, build on prior success, and utilize positive models generated by those who have successfully integrated CF treatments into their lives are more likely to be efficacious.