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.

Pretransplant Quality of Life and Post-Transplant Survival in Adolescents with Cystic Fibrosis.

OBJECTIVE: Cystic fibrosis (CF) is the most common indication for pediatric lung transplantation and the third most common for adults. The selection of candidates and timing of transplant is challenging and whether there is a survival benefit of this procedure for pediatric patients is controversial. Use of the Cystic Fibrosis Questionnaire-Revised (CFQ-R), a well-validated, disease-specific quality of life measure may improve pretransplant referral decision-making. METHODS: This multicenter study evaluated whether specific domains on the CFQ-R (i.e., Physical Functioning, Respiratory Symptoms), assessed pretransplant, predicted survival 4-year post-transplant (n = 25). A two-step Cox regression, with physical predictors entered in step one (i.e., age, CF-related Diabetes, FEV1% predicted) and the Physical Functioning and Respiratory Symptoms CFQ-R scales entered in step two, was used to assess whether the CFQ-R explained additional and unique variance. Receiver Operating Characteristic (ROC) curves were used to assess the sensitivity and specificity of optimal cut-points of significant CFQ-R domains. RESULTS: The Respiratory Symptoms scale predicted survival 4-year post-transplant (Exp(B) = 0.38, 95% CI = 0.14-1.01; area under the curve = 0.87) and once it was added to the model, no other individual predictors were significant. The incremental improvement beyond the physical parameters approached but did not reach statistical significance (χ2 Δ = 5.79, p = .06). CONCLUSIONS: This study suggested that including patient-reported outcomes could aid pretransplant referral decision-making. The Respiratory Symptoms scale in particular may serve as a useful tool to help determine when to refer and evaluate an individual for transplant.

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.

Efficacy of Problem-Solving Intervention to Improve Adherence in Adolescents and Adults with Cystic Fibrosis.

BACKGROUND: Adherence to treatment by adolescents and adults with cystic fibrosis (CF) is often poor. OBJECTIVES: To assess the impact of a focused clinical intervention on adherence in individual patients, including help in problem-solving key barriers to adherence. To implement a patient-centered problem-solving intervention using CF My Way tools. To identify and overcome a selected barrier to adherence. METHODS: Medication possession ratios (MPRs), number of airway clearance sessions, forced expiratory volume (FEV1), body mass index (BMI), and health-related quality of life (HRQoL) were measured before and after the intervention. RESULTS: Sixteen patients with CF, aged 23.4 ± 6.7 years, participated. MPR increased for colistimethate sodium and tobramycin inhalations from a median of 21 (range 0-100) to 56 (range 0-100), P = 0.04 and 20 (range 0-100) to 33.3 (range 25-100), P = 0.03, respectively. BMI standard deviation score rose from -0.37 to -0.21, P = 0.05. No significant improvements were found in FEV1, airway clearance, or HRQoL scores. CONCLUSIONS: The CF My Way problem-solving intervention increased adherence to medical treatments by removing barriers directly related to the needs and goals of young adults with CF.

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.

Comparisons of IQ in Children With and Without Cochlear Implants: Longitudinal Findings and Associations With Language.

OBJECTIVES: To make longitudinal comparisons of intelligence quotient (IQ) in children with cochlear implants (CIs) and typical hearing peers from early in development to the school-age period. Children with additional comorbidities and CIs were also evaluated. To estimate the impact of socioeconomic status and oral language on school-age cognitive performance. DESIGN: This longitudinal study evaluated nonverbal IQ in a multicenter, national sample of 147 children with CIs and 75 typically hearing peers. IQ was evaluated at baseline, prior to cochlear implantation, using the Bayley Scales of Infant and Toddler Development and the Leiter International Performance Scale. School-age IQ was assessed using the Wechsler Intelligence Scales for Children. For the current study, only the Perceptual Reasoning and Processing Speed indices were administered. Oral language was evaluated using the Comprehensive Assessment of Spoken Language. RESULTS: Children in the CI group scored within the normal range of intelligence at both time points. However, children with additional comorbidities scored significantly worse on the Processing Speed, but not the Perceptual Reasoning Index. Maternal education and language were significantly related to school-age IQ in both groups. Importantly, language was the strongest predictor of intellectual functioning in both children with CIs and normal hearing. CONCLUSION: These results suggest that children using cochlear implants perform similarly to hearing peers on measures of intelligence, but those with severe comorbidities are at-risk for cognitive deficits. Despite the strong link between socioeconomic status and intelligence, this association was no longer significant once spoken language performance was accounted for. These results reveal the important contributions that early intervention programs, which emphasize language and parent training, contribute to cognitive functioning in school-age children with CIs. For families from economically disadvantaged backgrounds, who are at-risk for suboptimal outcomes, these early intervention programs are critical to improve overall functioning.

Examining the Stability of the Hospital Anxiety and Depression Scale Factor Structure in Adolescents and Young Adults With Cystic Fibrosis: A Confirmatory Factor Analysis.

Objective: The Hospital Anxiety and Depression Scale (HADS) is a widely used screening measure of anxiety and depression symptoms. However, prior analyses of the measure have found heterogeneous factor structures and called into question its ability to differentiate between symptoms of anxiety and depression. As part of efforts to implement mental health screening in cystic fibrosis (CF) care, the European Cystic Fibrosis Society (ECFS) and Cystic Fibrosis Foundation (CFF) conducted an international survey of 1,454 CF professionals. The HADS was the most commonly used measure in Europe and third most across all 48 countries surveyed. However, the HADS has not been validated for CF. Thus, the objective of this study was to examine its factor structure in a sample of adolescents and young adults with CF. Methods: Three theory-based models were tested in 727 individuals with CF (ages 12-25 years, 54% female) using confirmatory factor analyses, with an additional two models tested to improve model fit. Results: Chi-square difference tests and majority of fit indices indicated a three-factor structure based on Clark and Watson's tripartite model best fit the data. Conclusions: The original HADS two-factor structure demonstrated problematic fit in this sample, indicating poor discrimination between symptoms of anxiety and depression. A three-factor structure demonstrated best fit, indicating existing scoring guidelines and cutoffs would be inappropriate for use with this patient population. Use of the HADS to screen for anxiety and depression in CF could lead to an underestimation of clinically relevant symptomatology for depression and potential overestimation of anxiety symptoms.

Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD).

BACKGROUND: Quality of life (QOL)-primary ciliary dyskinesia (PCD) is the first disease-specific, health-related QOL instrument for PCD. Psychometric validation of QOL-PCD assesses the performance of this measure in adults, including its reliability, validity and responsiveness to change. METHODS: Seventy-two adults (mean (range) age: 33 years (18-79 years); mean (range) FEV1% predicted: 68 (26-115)) with PCD completed the 49-item QOL-PCD and generic QOL measures: Short-Form 36 Health Survey, Sino-Nasal Outcome Test 20 (SNOT-20) and St George Respiratory Questionnaire (SGRQ)-C. Thirty-five participants repeated QOL-PCD 10-14 days later to measure stability or reproducibility of the measure. RESULTS: Multitrait analysis was used to evaluate how the items loaded on 10 hypothesised scales: physical, emotional, role and social functioning, treatment burden, vitality, health perceptions, upper respiratory symptoms, lower respiratory symptoms and ears and hearing symptoms. This analysis of item-to-total correlations led to 9 items being dropped; the validated measure now comprises 40 items. Each scale had excellent internal consistency (Cronbach's α: 0.74 to 0.94). Two-week test-retest demonstrated stability for all scales (intraclass coefficients 0.73 to 0.96). Significant correlations were obtained between QOL-PCD scores and age and FEV1. Strong relationships were also found between QOL-PCD scales and similar constructs on generic questionnaires, for example, lower respiratory symptoms and SGRQ-C (r=0.72, p<0.001), while weak correlations were found between measures of different constructs. CONCLUSIONS: QOL-PCD has demonstrated good internal consistency, test-retest reliability, convergent and divergent validity. QOL-PCD offers a promising tool for evaluating new therapies and for measuring symptoms, functioning and QOL during routine care.

Pulmonary exacerbation in adults with bronchiectasis: a consensus definition for clinical research.

There is a need for a clear definition of exacerbations used in clinical trials in patients with bronchiectasis. An expert conference was convened to develop a consensus definition of an exacerbation for use in clinical research.A systematic review of exacerbation definitions used in clinical trials from January 2000 until December 2015 and involving adults with bronchiectasis was conducted. A Delphi process followed by a round-table meeting involving bronchiectasis experts was organised to reach a consensus definition. These experts came from Europe (representing the European Multicentre Bronchiectasis Research Collaboration), North America (representing the US Bronchiectasis Research Registry/COPD Foundation), Australasia and South Africa.The definition was unanimously approved by the working group as: a person with bronchiectasis with a deterioration in three or more of the following key symptoms for at least 48 h: cough; sputum volume and/or consistency; sputum purulence; breathlessness and/or exercise tolerance; fatigue and/or malaise; haemoptysis AND a clinician determines that a change in bronchiectasis treatment is required.The working group proposes the use of this consensus-based definition for bronchiectasis exacerbation in future clinical research involving adults with bronchiectasis.

Electronic applications for the CFQ-R scoring.

Patient reported outcomes (PROs) have become widely accepted outcome measures in cystic fibrosis (CF) and other respiratory diseases. The Cystic Fibrosis-Questionnaire-Revised (CFQ-R) is the best validated and most widely used PRO for CF. Data collection can be time-intensive, and electronic platforms would greatly facilitate the feasibility, utility and accuracy of administration of the CFQ-R. Given that the CFQ-R is utilized in virtually all clinical trials worldwide and is increasingly integrated into clinical practice, we developed a software application that will help users to administer, score and save CFQ-R data for all versions. All codes are open access, which will enable other PRO users to design similar applications for other respiratory diseases, such as primary ciliary dyskinesia and non-CF bronchiectasis.

Development of Health-Related Quality of Life Instruments for Young Children With Disorders of Sex Development (DSD) and Their Parents.

Objective: Research in disorders of sex development (DSD) is hindered by a lack of standardized measures sensitive to the experiences of affected children and families. We developed and evaluated parent proxy (children 2-6 years) and parent self-report (children ≤6 years) health-related quality of life (HRQoL) instruments for DSD. Methods: Items were derived from focus groups and open-ended interviews. Clarity and comprehensiveness were assessed with cognitive interviews. Psychometric properties were examined in a field survey of 94 families. Results: Measures demonstrated adequate to good psychometrics, including internal consistency, test-retest reliability, convergent validity, and ability to detect known-group differences. Parents reported greatest stress on Early Experiences , Surgery , and Future Concerns scales. Conclusions: These instruments identify patients' and families' needs, monitor health and quality of life status, and can evaluate clinical interventions. Findings highlight the need for improved psychosocial support during the diagnostic period, better parent-provider communication, and shared decision-making. HRQoL measures are needed for older youth.

International Committee on Mental Health in Cystic Fibrosis: Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus statements for screening and treating depression and anxiety.

Studies measuring psychological distress in individuals with cystic fibrosis (CF) have found high rates of both depression and anxiety. Psychological symptoms in both individuals with CF and parent caregivers have been associated with decreased lung function, lower body mass index, worse adherence, worse health-related quality of life, more frequent hospitalisations and increased healthcare costs. To identify and treat depression and anxiety in CF, the CF Foundation and the European CF Society invited a panel of experts, including physicians, psychologists, psychiatrists, nurses, social workers, a pharmacist, parents and an individual with CF, to develop consensus recommendations for clinical care. Over 18 months, this 22-member committee was divided into four workgroups: Screening; Psychological Interventions; Pharmacological Treatments and Implementation and Future Research, and used the Population, Intervention, Comparison, Outcome methodology to develop questions for literature search and review. Searches were conducted in PubMed, PsychINFO, ScienceDirect, Google Scholar, Psychiatry online and ABDATA by a methodologist at Dartmouth. The committee reviewed 344 articles, drafted statements and set an 80% acceptance for each recommendation statement as a consensus threshold prior to an anonymous voting process. Fifteen guideline recommendation statements for screening and treatment of depression and anxiety in individuals with CF and parent caregivers were finalised by vote. As these recommendations are implemented in CF centres internationally, the process of dissemination, implementation and resource provision should be closely monitored to assess barriers and concerns, validity and use.

An international registry for primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic upper and lower airway disease. Fundamental data on epidemiology, clinical presentation, course and treatment strategies are lacking in PCD. We have established an international PCD registry to realise an unmet need for an international platform to systematically collect data on incidence, clinical presentation, treatment and disease course.The registry was launched in January 2014. We used internet technology to ensure easy online access using a web browser under www.pcdregistry.eu. Data from 201 patients have been collected so far. The database is comprised of a basic data form including demographic and diagnostic information, and visit forms designed to monitor the disease course.To establish a definite PCD diagnosis, we used strict diagnostic criteria, which required two to three diagnostic methods in addition to classical clinical symptoms. Preliminary analysis of lung function data demonstrated a mean annual decline of percentage predicted forced expiratory volume in 1 s of 0.59% (95% CI 0.98-0.22).Here, we present the development of an international PCD registry as a new promising tool to advance the understanding of this rare disorder, to recruit candidates for research studies and ultimately to improve PCD care.