Cystic Fibrosis Families Research Articles

Factors associated with quality of life for cystic fibrosis family caregivers

Cystic Fibrosis (CF) is a genetic and chronic disease affecting 32,100 people in the United States as of 2021, with a life expectancy of 56 years for people with CF (PwCF) born between 2018 and 2022. While there is extensive literature about cystic fibrosis, there are few studies examining the complexity and challenges experienced by family caregivers for PwCF. The aim of this study was to examine the Caregiver Quality of Life Cystic Fibrosis (CQOLCF) scale using data (N = 217) from two separate studies that used the scale to determine if its items represent multiple factors relevant to CF family caregiver QoL. Factor analysis was conducted on the Seven distinct factors were found with analysis of the CQOLCF. Factors were Existential Dread (12%), Burden (11%), Strain (7%), Support (7%), Positivity (6%), Finance (5%) and Guilt (3%). Study findings indicated it is important for healthcare providers and researchers who use the CQOLCF to be knowledgeable and aware of the multiple factors associated with quality of life in this population in addition to an overall quality of life score.

P384 Smoking prevalence in cystic fibrosis families is higher than in the Greek general population

Smoking has detrimental effects on lung health, especially in patients with chronic lung diseases. Recent studies have shown that CFTR mutation carriers that smoke are more likely to develop COPD. There is also evidence that smoking decreases CFTR function and interferes with the effectiveness of new CFTR modulators. The aim of the study was to determine how prevalent smoking is in parents of CF children and compare it to smoking prevalence in Greece.

P363 Socio-economic choices in the cystic fibrosis family with a child with cystic fibrosis in primary school

The aim of the study, is to find socio-economic choices in the CF family with af child in primary school.

‘We're kind of like genetic nomads': Parents' experiences of biographical disruption and uncertainty following in/conclusive results from newborn cystic fibrosis screening

As whole genome sequencing is being considered as a tool to deliver expanded newborn screening (NBS) globally, the range of equivocal results it could produce are gaining increased attention. For cystic fibrosis (CF) screening, the use of next generation sequencing within existing UK NBS programmes would increase the number of uncertain designations returned within results, including that of Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CFSPID). However, the experiences of families already living with this designation have been under-explored. This study uses in-depth interviews to explore the perspectives of sixteen parents who received positive results from CF NBS, with varying degrees of prognostic un/certainty; parents with a child diagnosed with CF (n = 6), CF carrier status (n = 3) and those with the CFSPID designation (n = 7). The biographically disruptive nature of positive NBS results-regardless of immediate relevance to the child-dominated early experiences of positive results across all groups. For those with CF, biographical reparation involved becoming ‘a CF family’, underscoring biological kinship bonds and reinforcing familial identity. For those with uncertain results, biographical re-calibration was more complex. Diagnostic and prognostic uncertainty posed a barrier to entry for both the ‘CF world’ and the ‘healthy kid’ world, leading parents to attempt to minimise its role, either through rejection, or re-interpretation of their child's result. Other parents, however, experienced biographical reparation more dynamically. The concept of ‘genetic nomadism’ captures accounts of oscillation between the two worlds; movements that were responsive to evolving health experiences, as well as social, environmental and temporal factors. Through the concept of genetic nomadism, this paper delineates both the productive, as well as divisive, nature of uncertainty for biographical reparation in the aftermath of NBS, as well as the strategies parents use to harness it, in order to successfully navigate the world with a child with an ambiguous genetic future.

Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results.

To explore primary care providers' (PCPs') preferred roles and confidence in caring for infants receiving a positive cystic fibrosis (CF) newborn screening (NBS) result, as well as management of CF family planning issues, given that expanded NBS has resulted in an increase in positive results. Mailed questionnaire. Ontario. Ontario FPs, pediatricians, and midwives identified by Newborn Screening Ontario as having had an infant with a positive CF NBS result in their practice in the previous 6 months. Primary care providers' preferred roles in providing well-baby care for infants with positive CF screening results. Overall, 321 of 628 (51%) completed surveys (208 FPs, 68 pediatricians, 45 midwives). For well-baby care for infants confirmed to have CF, 77% of PCPs indicated they would not provide total care (ie, 68% would share care with other specialists and 9% would refer to specialists completely); for infants with an inconclusive CF diagnosis, 50% of PCPs would provide total care, 45% would provide shared care, and 5% would refer to a specialist; for CF carriers, 89% of PCPs would provide total care, 9% would provide shared care, and 2% would refer. Half (54%) of PCPs were extremely or very confident in providing reassurance about CF carriers' health. Only 25% knew how to order parents' CF carrier testing; 67% knew how to refer for prenatal diagnosis. Confidence in reassuring parents about the health of CF carrier children was associated with providing total well-baby care for CF carriers (risk ratio of 1.50; 95% CI 1.14 to 1.97) and infants with an inconclusive diagnosis (risk ratio of 3.30; 95% CI 1.34 to 8.16). Most PCPs indicated willingness to treat infants with a range of CF NBS results in some capacity. It is concerning that some indicated CF carriers should have specialist involvement and only half were extremely or very confident about reassuring families about carrier status. This raises issues about possible medicalization of those with carrier status, prompting the need for PCP education about genetic disorders and the meaning of genetic test results.

Assessment of treatment burden and complexity in cystic fibrosis: A quality improvement project.

Treatment regimens for cystic fibrosis (CF) continue to evolve and grow in complexity. Treatment regimen burden, and associated sequelae, are incompletely understood. Quality improvement (QI) methods were used to investigate treatment burden of CF care, family and care team partnerships, and potential interventions to reduce burden. Patients 6-24 years with CF and caregivers of patients 6-13 years were surveyed. Portions of validated tools and existing surveys measured burden and family-care team partnership. An automated report calculated treatment complexity. Plan-do-study-act cycles tested survey administration during CF visits and run charts tracked progress. Interventions to reduce burden were tracked, and bidirectional assessments explored partnerships among patients, families and clinicians. Over 6 months, 110 patients and 62 caregivers completed assessments. Caregivers reported lower burden/higher quality of life (74.0, range 22.2-100) than patients (66.5, range 16.7-100). The mean treatment complexity score was 17.2 (range 6-34). Treatment complexity and burden increased with patient age (p < .05 and p < .01 respectively). Lower lung function correlated with higher patient-reported burden (p < .01) and higher treatment complexity (p < .0001). As burden increased, providers more often performed select interventions (discussed combining treatments, simplified regimens, or involved other team members (p < .05 for each)). Families reported high partnership (mean scores 4.7-4.8, 5 = high), and providers reported high utilization of partnership tools (tool used in 77% of encounters). We assessed, quantified, and responded to treatment burden and complexity in real-time during outpatient CF visits. Systematic and individualized assessments of treatment complexity and burden may enhance treatment adherence while preserving quality of life.

The effects of nebulizer hygiene training on the practices of cystic fibrosis patients and caregivers.

Nebulizers can be contaminated with microorganisms and may be a source of infection in the lower airways in patients with cystic fibrosis (CF). Primary aim of this study was to determine the level of knowledge regarding nebulizer hygiene and adherence to CF foundation infection prevention and control (IPC) measures of CF patients in our center. We also evaluated the effect of a standardized training program on nebulizer cleaning and disinfection practises with pre and posttest. Caregivers of 173 CF patients followed at Marmara University CF Center filled a questionnaire (pretest) regarding nebulizer hygiene and received didactic education including pictures and videos based on the cystic fibrosis foundation (CFF) IPC guidelines, patients were also provided educational materials. Posttest was performed 1-3 months after the education session. Following standardized training, usage of appropriate methods according to CFF IPC guidelines improved significantly. Frequency of nebulizer cleaning after each use increased from 58.4% to 78% (p < .01) and disinfection frequency after each/daily usage increased from 33.6% to 75.7% (p < .01). Additionally, methods of cleaning and storage of the nebulizer, also improved significantly (p < .01, p < .01). Education was highly effective to increase the rate of proper practices for nebulizer hygiene. The necessity of cleaning, disinfection, careful drying, correct storage of the nebulizer parts, and changing the nebulizer equipment within recommended time should be emphasized to CF families regularly.

How can we relieve gastrointestinal symptoms in people with cystic fibrosis? An international qualitative survey

IntroductionRelieving gastrointestinal (GI) symptoms was identified as a ‘top ten’ priority by our James Lind Alliance Priority Setting Partnership in cystic fibrosis (CF). We conducted an online survey to find...

Nebulizer cleaning and disinfection practices in families with cystic fibrosis: The relationship between attitudes, practice and microbe colonization

BackgroundThe daily burden of health maintenance for children and families with cystic fibrosis (CF) is immense with respect to time and complexity of care. Infection control practices, specifically nebulizer cleaning and disinfection, are a recommended component of home health care for CF families due to colonization of home respiratory equipment with lung pathogens. To better inform education interventions at our center, we were interested in studying how families' views on infection prevention and awareness of CF Foundation infection prevention and control (IP&C) guidelines correlate with actual home nebulizer care and the presence of microorganisms on their nebulizers. MethodsTwenty families who have children with CF were surveyed to better understand attitudes toward infection prevention, awareness of CFF IP&C guidelines and nebulizer cleaning and disinfection practices in the home. Their nebulizers were also cultured for microbes to correlate recovery with infection control behaviors. ResultsA subset of families recognizes the importance of germ avoidance but do not recognize nebulizer cleaning and disinfection as very important for infection control practices. Decreased frequency of disinfection, but not cleaning, was correlated with the recovery of organisms on the nebulizers. ConclusionsThe study questionnaire results identify a gap between recognizing the importance of infection prevention and consistently implementing CFF IP&C guidelines in the home. This demonstrates the need at our center for new educational interventions to promote cleaning and disinfection of home nebulizers after each use as recommended by the CFF.

Patients and families experience with pharmacist care at cystic fibrosis foundation accredited clinics.

Cystic fibrosis (CF) is a complex genetic, multiorgan disease. The CF Foundation (CFF) recommends a multidisciplinary team (physician, nurse, respiratory therapist, dietitian, physical therapist, social worker, mental health coordinator, clinic coordinator, and pharmacist) to work with patients and families. The objective of our study was to describe the impact of a pharmacist involved in the care of patients and families from their perspective. The CF Patient and Family Experience of Care (PFEC) is a voluntary, 50-question telephonic or internet-based survey designed to continuously collect information from patients and their families regarding their care experience. From August of 2017 through February of 2018, five questions were added to the internet survey to assess the impact of the pharmacist on the care experience. From the 666 respondents, 54% reported that a pharmacist was involved in their CF care. At two CF clinics designated as "full access" to a pharmacist, respondents reported a higher percentage of the CF-team discussed medications compared to those from three clinics designated as "limited access" to the pharmacist (95% vs 67%). Respondents in clinics with "full access" to a pharmacist were significantly more likely to get their medications refilled on time (78% vs 63%) and reported using fewer pharmacies to fill their medications. Pharmacist involvement in CF care may improve patient's access to medication and the ability to sustain use.

Information needs of parents of infants diagnosed with cystic fibrosis: Results of a pilot study.

This study investigated the information needs, priorities and information-seeking behaviours of parents of infants recently diagnosed with cystic fibrosis (CF) following newborn screening, by piloting the 'Care of Cystic Fibrosis Families Survey'. The questionnaires were posted to eligible parents ( n = 66) attending CF clinics in hospitals in two Australian states; reply-paid envelopes were provided for return of the questionnaires. Twenty-six were returned (response rate 39.4%). The most common questions to which parents required answers during their initial education period related to what CF is, how it is treated and how to care for their child. Parents preferred face-to-face consultations to deliver information, and yet all reported using the Internet to search for more information at some point during the education period. Many parents provided negative feedback about being given their child's CF diagnosis via telephone. The timing, content and method of information delivery can all affect the initial education experience. We can deliver education to better suit the information needs and priorities for education of parents of infants recently diagnosed with CF. The Care of Cystic Fibrosis Families Survey was successfully piloted and recommendations for amendments have been made for use in a larger study across Australia.

Highlighting the impact of cascade carrier testing in cystic fibrosis families

BackgroundCascade carrier testing within cystic fibrosis (CF) affected families offers relatives of CF patients the opportunity to know their status regarding the mutation that segregates within their family, and thus to make informed reproductive choices. As an Australian study has recently shown that this test seemed underused, we searched to assess uptake of this test in a European area where CF is common, and to report its public health implications. MethodsThis study relied on 40 CF-affected families from western Brittany, France. Investigations included drawing of family trees and registration of carrier tests performed in those families. ResultsOf the 459 relatives eligible for testing, 185 were tested, leading to an adjusted uptake rate of testing of 40.7% (95% CI: [34.1%; 47.3%]). The main predictors for having testing were being female (p=0.031) and having a high prior risk (p<0.001). Planning a pregnancy or expecting a child (reported in at least 38.4% of tested relatives) also appeared critical in choosing to be tested. Overall, carrier testing allowed to reassure more than 1/4 of the relatives and to detect five new 1-in-4 at-risk couples who then requested prenatal diagnosis. ConclusionsThis observational study assesses, for first time in Europe, uptake of CF cascade carrier testing within CF families, which is a critical tool to reassure non-carriers and to detect early new at-risk couples.

Psychosocial characteristics and predictors of health-care use in families of young children with cystic fibrosis in Western Australia.

Early childhood psychosocial experiences determine future health and health-care use. Identifying psychosocial predictors in cystic fibrosis may inform intervention strategies that can reduce health-care utilization. The study was designed as a prospective cohort study. The study was set in the only cystic fibrosis clinic in Western Australia. The patients were children up to 6 years diagnosed with cystic fibrosis in Western Australia between 2005 and 2011. Psychosocial data collected for each year of life were compared with Australian population data and analysed as predictors of annual hospital, emergency and outpatient visits. Compared with the Australian population, cystic fibrosis families demonstrated lower socio-economic status and labour supply (P < 0.001), increased residential mobility (P < 0.001) and trends towards increased rates of parental separation (P = 0.066). Marital discord and maternal and child psychological stress significantly predicted increased hospital admissions, emergency and outpatient visits. Social gradients may exist for families of young children with cystic fibrosis in Western Australia with potential implications for child health. Family psychological and relationship stress predicted increased child cystic fibrosis-related health-care use.

263 The good, the bad and the future: Families’ views on the Royal Brompton Hospital (RBH) paediatric cystic fibrosis (CF) homecare service

Objective To investigate user satisfaction of the paediatric CF homecare service (Nursing and Physiotherapy) and identify areas for improvement. Method 307 paediatric CF families were sent an anonymous semi-structured postal questionnaire, irrespective of whether they had accessed the homecare service. Results 35% response rate (108/307), Age range 4 months to 16 years. Overall satisfaction: 72% scored the service 8–10/10 (59% 10/10), 21% had not received homecare input. The service excelled at communication, school/nursery education and timing of visits (frequency – mainly as required – and length – averaging 64 minutes per visit). Improvements are required to raise the profile of the service – 10% were unaware of the homecare service. Geographical location of patients' homes restricted visits from the nursing service. Other CF team members requested to visit at home: 10% Psychology and 9% Dietitians. Improvements: Raising service profile: information leaflets were produced for outpatients and the trust website. Geographical boundaries for nursing-led visits were removed. A dedicated dietetic paediatric CF homecare post was created and psychology input into the homecare environment was increased. The physiotherapy team expanded ensuring all newly diagnosed families are reviewed at home within 1 month and the number of families reviewed annually increased from 37% to 55%. Conclusion The RBH CF homecare team deliver a service that is well valued and achieves a high satisfaction rating – highlighting the importance families' place on a homecare service for communication, expert knowledge, support and understanding in an environment that minimises disruption to daily life.

Phenotypic Heterogeneity in a Cystic Fibrosis Family and the “Pseudomonas Dilemma”

We describe an unusual family in which 2 adult siblings and the son of 1 are all affected by cystic fibrosis with rare mutations and different phenotypes. We discuss the dilemma surrounding the treatment of Pseudomonas aeruginosa colonization in the asymptomatic father, while minimizing disruption to the father–son relationship.

Pseudomonas aeruginosa in CF and non-CF homes is found predominantly in drains

BackgroundFor patients with cystic fibrosis (CF) Pseudomonas aeruginosa infection is a major contributor to progressive lung disease. While colonizing strains are thought to be primarily environmental, which environments are important in lung colonization is unclear. MethodsWe took 11,674 samples from a broad range of sites over 3–8 visits to homes with (7) and without (8) CF patients. ResultsTwenty-eight percent of sampled drains yielded P. aeruginosa at least once, and a general mixed linear model estimated that 6.3% of samples from drains yield P. aeruginosa. This is more than eight times the estimated recovery from any other type of household environment. ConclusionsThese findings implicate drains as important potential sources of P. aeruginosa infection. They suggest that maximizing P. aeruginosa control efforts for drains would reduce exposure with minimal extra burden to CF patients and families.

How does learning false positive results through newborn screening for cystic fibrosis influence cascade testing and family planning?

How does learning false positive results through newborn screening for cystic fibrosis influence cascade testing and family planning?

Development and psychometric validation of a cystic fibrosis knowledge scale.

Well-developed and validated measures of cystic fibrosis (CF) knowledge are scarce. The purpose of the present study is to develop and validate a CF knowledge scale that is brief, easy to use, self-administered and demonstrates clinical utility. A comprehensive literature search generated a pool of scale items; an expert panel of CF team members reviewed and provided recommendations for item inclusion. A focus group of CF patients and family members (n = 12) then reviewed the items for face validity and reading clarity. To evaluate the validity and reliability of the newly developed CF knowledge scale, it was administered to several different samples including CF patients (n = 45), respirology patients (n = 100), health-care providers (n = 74) and university student samples (psychology students, n = 71; medical students, n = 36). Internal consistency of the scale was high, with an alpha coefficient for the overall sample of .95 (n = 326). The scale also demonstrated excellent construct validity. This study is an important first step in a line of research that aims to develop and empirically validate a psycho-educational adherence intervention for improving quality of life and treatment outcomes among adult CF patients. The CF knowledge scale has potential applications as a clinical teaching tool with patients and health-care providers and could be used as an outcome measure in CF educational intervention studies aimed at optimizing CF treatment knowledge, adherence and quality of life among CF patients.

Clinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermia

To illustrate the importance of genetic screening in the assessment of fertility and the correct diagnosis in patients with azoospermia or severe oligospermia. This study examined 500 patients with reproductive failure, having fewer than 5 million sperm/mL detected in at least 2 consecutive spermiograms, who presented at a medical genetics polyclinic between 2008 and 2012. Metaphase preparations obtained from cell cultures were stained by trypsin-Giemsa banding. After DNA isolation, Y chromosome loci, including AZFa (SY84, SY86), AZFb (SY127, SY134), AZFc (SY254 SY255), and AZFd, were amplified by polymerase chain reaction using specific primers. Thirty-five patients with congenital unilateral absence of the vas deferens or congenital bilateral absence of the vas deferens (CBAVD) and a positive cystic fibrosis family history were evaluated for cystic fibrosis transmembrane conductance regulator gene mutations. No chromosomal abnormalities were noted in 440 (88%) of the 500 patients, whereas structural or numerical chromosomal abnormalities were detected in 60 patients (12%). Individuals with Y deletions made up 5.6% (n = 28) of the study sample. Three patients with no AZF deletion or chromosomal abnormality, but with CBAVD, were heterozygous for I148T, G1130A, or IVS3 406- 3T>C mutations. This study shows that genetic testing can make an important contribution to the treatment of patients planning in vitro fertilization due to azoospermia or severe oligospermia.

CFTR mutation analysis and haplotype associations in CF patients

Most newborn screening (NBS) laboratories use second-tier molecular tests for cystic fibrosis (CF) using dried blood spots (DBS). The Centers for Disease Control and Prevention's NBS Quality Assurance Program offers proficiency testing (PT) in DBS for CF transmembrane conductance regulator ( CFTR) gene mutation detection. Extensive molecular characterization on 76 CF patients, family members or screen positive newborns was performed for quality assurance. The coding, regulatory regions and portions of all introns were sequenced and large insertions/deletions were characterized as well as two intronic di-nucleotide microsatellites. For CF patient samples, at least two mutations were identified/verified and four specimens contained three likely CF-associated mutations. Thirty-four sequence variations in 152 chromosomes were identified, five of which were not previously reported. Twenty-seven of these variants were used to predict haplotypes from the major haplotype block defined by HapMap data that spans the promoter through intron 19. Chromosomes containing the F508del (p.Phe508del), G542X (p.Gly542X) and N1303K (p.Asn1303Lys) mutations shared a common haplotype subgroup, consistent with a common ancient European founder. Understanding the haplotype background of CF-associated mutations in the U.S. population provides a framework for future phenotype/genotype studies and will assist in determining a likely cis/ trans phase of the mutations without need for parent studies.