Changing landscape: psychological care in the era of cystic fibrosis transmembrane conductance regulator modulators.

PURPOSE OF REVIEW: The current review provides an overview of key psychological issues and challenges for the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) modulator era of care. It discusses research from diagnosis and beyond, to patient-team communication with a particular focus on medical trials, adherence and living with CFTR modulators. RECENT FINDINGS: The impact of the diagnosis on parents is immense and the complexity of treatment now and in the future, are a challenge for both parents and teams. Communicating digitally is starting to become daily practice for many in CF care, with coronavirus disease 2019 accelerating this process. Participating in trials has a psychological impact, but most of all the (delayed) access and timing of accessing CFTR modulators is an important theme. Adherence remains of significance, both to 'old' and 'new' treatments. Living with CF in the era of CFTR modulators is beginning to impact on patients' quality of life, including new possibilities, opportunities and challenges. SUMMARY: Psychological care needs to engage and keep pace with the rapid medical changes. Some care priorities remain the same, including psychological screening and assessment, as well as psychoeducation, communication training and psychotherapy. The presence of CF psychologist in the CF clinic remains as important as ever.

The impact of the COVID-19 pandemic on the emotional well-being and home treatment of Belgian patients with cystic fibrosis, including transplanted patients and paediatric patients.

BACKGROUND: Little is known about the impact of COVID-19 on patients with cystic fibrosis (CF), despite being considered a high-risk group. This study explored the early impact of COVID-19 on the emotional well-being of patients and self-reported changes in their home therapy since the start of the pandemic. METHODS: Adult patients with CF, lung-transplanted (LTX) CF patients and parents of children with CF completed an online questionnaire, securely linked to their medical files. The questionnaire covered the emotional impact of the pandemic, changes in CF and LTX treatment, changes in health-protecting behaviours and CF-related concerns, and their perception of their COVID-19 status. RESULTS: The response rate was 63% (80 CF, 66 LTX and 73 parents). A wide range of illness severity was included. None of the respondents had contracted COVID-19 and all strictly followed the social distancing rules. There was evident psychological impact, with many reporting increased stress, fear and worry about CF and the future. Changes in treatment were positive, including more physiotherapy for adults and better-quality nebulizing. Changes in routine were reported, such as different treatment timing. Adult patients and parents had cancelled their CF appointments more often since the start of the pandemic. CONCLUSIONS: The initial psychological impact of COVID-19 was evident. The impact on home treatment was reassuringly small. Psychological care is needed for patients suffering prolonged psychological impact, and CF teams need to contextualize the information that patients and parents receive from the media and support them to balance the perceived risk with true risk.

The future of cystic fibrosis care: a global perspective.

The past six decades have seen remarkable improvements in health outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young children. However, although life expectancy for people with cystic fibrosis has increased substantially, the disease continues to limit survival and quality of life, and results in a large burden of care for people with cystic fibrosis and their families. Furthermore, epidemiological studies in the past two decades have shown that cystic fibrosis occurs and is more frequent than was previously thought in populations of non-European descent, and the disease is now recognised in many regions of the world. The Lancet Respiratory Medicine Commission on the future of cystic fibrosis care was established at a time of great change in the clinical care of people with the disease, with a growing population of adult patients, widespread genetic testing supporting the diagnosis of cystic fibrosis, and the development of therapies targeting defects in the cystic fibrosis transmembrane conductance regulator (CFTR), which are likely to affect the natural trajectory of the disease. The aim of the Commission was to bring to the attention of patients, health-care professionals, researchers, funders, service providers, and policy makers the various challenges associated with the changing landscape of cystic fibrosis care and the opportunities available for progress, providing a blueprint for the future of cystic fibrosis care. The discovery of the CFTR gene in the late 1980s triggered a surge of basic research that enhanced understanding of the pathophysiology and the genotype-phenotype relationships of this clinically variable disease. Until recently, available treatments could only control symptoms and restrict the complications of cystic fibrosis, but advances in CFTR modulator therapies to address the basic defect of cystic fibrosis have been remarkable and the field is evolving rapidly. However, CFTR modulators approved for use to date are highly expensive, which has prompted questions about the affordability of new treatments and served to emphasise the considerable gap in health outcomes for patients with cystic fibrosis between high-income countries, and low-income and middle-income countries (LMICs). Advances in clinical care have been multifaceted and include earlier diagnosis through the implementation of newborn screening programmes, formalised airway clearance therapy, and reduced malnutrition through the use of effective pancreatic enzyme replacement and a high-energy, high-protein diet. Centre-based care has become the norm in high-income countries, allowing patients to benefit from the skills of expert members of multidisciplinary teams. Pharmacological interventions to address respiratory manifestations now include drugs that target airway mucus and airway surface liquid hydration, and antimicrobial therapies such as antibiotic eradication treatment in early-stage infections and protocols for maintenance therapy of chronic infections. Despite the recent breakthrough with CFTR modulators for cystic fibrosis, the development of novel mucolytic, anti-inflammatory, and anti-infective therapies is likely to remain important, especially for patients with more advanced stages of lung disease. As the median age of patients with cystic fibrosis increases, with a rapid increase in the population of adults living with the disease, complications of cystic fibrosis are becoming increasingly common. Steps need to be taken to ensure that enough highly qualified professionals are present in cystic fibrosis centres to meet the needs of ageing patients, and new technologies need to be adopted to support communication between patients and health-care providers. In considering the future of cystic fibrosis care, the Commission focused on five key areas, which are discussed in this report: the changing epidemiology of cystic fibrosis (section 1); future challenges of clinical care and its delivery (section 2); the building of cystic fibrosis care globally (section 3); novel therapeutics (section 4); and patient engagement (section 5). In panel 1, we summarise key messages of the Commission. The challenges faced by all stakeholders in building and developing cystic fibrosis care globally are substantial, but many opportunities exist for improved care and health outcomes for patients in countries with established cystic fibrosis care programmes, and in LMICs where integrated multidisciplinary care is not available and resources are lacking at present. A concerted effort is needed to ensure that all patients with cystic fibrosis have access to high-quality health care in the future.

Assessing gastro-intestinal related quality of life in cystic fibrosis: Validation of PedsQL GI in children and their parents.

BACKGROUND: Most patients with cystic fibrosis (CF) suffer from pancreatic insufficiency, leading to fat malabsorption, malnutrition and abdominal discomfort. Until recently, no specific tool was available for assessing gastro-intestinal related quality of life (GI QOL) in patients with CF. As the Horizon2020 project MyCyFAPP aims to improve GI QOL by using a newly designed mobile application, a sensitive and reliable outcome measure was needed. We aimed to study the applicability of the existing child-specific Pediatric Quality of Life Inventory, Gastrointestinal Symptoms Scales and Module (PedsQL GI) in children with CF. METHODS: A multicenter, prospective observational study was performed in 6 European centers to validate the PedsQL GI in children with CF during 3 months. RESULTS: In total, 248 children and their parents were included. Within-patient variability of PedsQL GI was low (24.11), and there was reasonable agreement between children and parents (ICC 0.681). Nine of 14 subscales were informative (no ceiling effect). The PedsQL GI and the median scores for 4 subscales were significantly lower in patients compared to healthy controls. Positive associations were found between PedsQL GI and age (OR = 1.044, p = 0.004) and between PedsQL GI and BMI z-score (OR = 1.127, p = 0.036). PedsQL GI correlated with most CFQ-R subscales (r 0.268 to 0.623) and with a Visual Analogue Scale (r = 0.20). CONCLUSIONS: PedsQL GI is a valid and applicable instrument to assess GI QOL in children with CF. Future research efforts should examine the responsiveness of the CF PedsQL GI to change in the context of clinical interventions and trials.

Prevention of anxiety and depression in cystic fibrosis.

PURPOSE OF REVIEW: Anxiety and depression (A&D) are common in cystic fibrosis (CF). This review defines A&D in the context of CF and examines our current knowledge about A&D, the impact on CF, treatment and illness trajectory and explores potential areas for prevention. RECENT FINDINGS: CF and A&D are interrelated. The CF diagnosis, symptoms and treatment may trigger symptoms of A&D, leading in some patients, to a clinical diagnosis of anxiety or depression. In return A&D impacts CF, potentially worsening the prognosis, decreasing treatment adherence and overall well being. Research shows how prevention is often imbedded in treatment programmes, for example in cognitive behavioural therapies or motivational interviewing. Strategies that may help to prevent the onset of clinical A&D or an increase in symptoms include the implementation of psychoeducation; techniques to enhance coping and resilience; building social support networks; increasing patients' physical exercise; and potentially, the implementation of e-health in day-to-day care. SUMMARY: To date, most A&D interventions focus on psychotherapeutic treatments, with preventive measures imbedded in programmes. The challenge lies in the improvement of our knowledge and implementation of preventive strategies to advance our care for patients with CF and to avoid clinical A&D.

Breaking bad news, the diagnosis of cystic fibrosis in childhood.

BACKGROUND: The day parents are told their child has cystic fibrosis (CF) is imprinted in their memory. Parents often show strong emotions (e.g. shock, anxiety); they need to cope with bad news and restructure their lives taking into account CF. AIMS: The aims of this study are (1) to explore how parents recall circumstances of the CF diagnosis and the information they received and (2) to investigate their current coping styles. METHODS: Parents (n=38) of 20 children (diagnosed during the past 5 years) were interviewed using a semi-structured interview. Coping was assessed using the Utrecht Coping List. The association between coping and time since diagnosis/severity of illness was investigated. RESULTS: Fifteen parents first heard the term 'CF' from their local pediatrician or GP. All were informed in detail by the CF specialist. All parents recalled specifics about the information, the attitude of the doctor, their thoughts and emotions. Most parents were satisfied with the content and manner in which they had received information. Nineteen appreciated the doctor showing some emotions during the talks. One couple criticized the doctor for not showing emotions. Parents reported higher use (than normative scores) of the active coping style 'social support seeking' and the accommodative coping styles 'palliative reaction pattern' and 'comforting cognitions'. Perception of severity of illness was associated with higher scores on palliative coping. CONCLUSIONS: This study shows the importance of physicians and CF teams to tailor the way of providing bad news to parents' needs and preferences. It is important to help and encourage parents to use active or accommodative coping strategies. The diagnosis is the starting point of a long-term relationship. 'Doing things well from the start' helps families to learn to live with CF and treatment.

Belgian siblings of children with a chronic illness: Is their quality of life different from their peers?

To assess Belgian siblings' self-reported quality of life (QoL) and the impact of illness on four different paediatric illnesses. Healthy siblings (n = 131) of children with type 1 diabetes, cancer, congenital heart disease (CHD) and cystic fibrosis (CF) completed the Child Health Questionnaire and the Sibling Perception Questionnaire. Results were compared to those of a matched group of siblings of healthy children. Siblings reported a good QoL, similar to controls, with the exception that siblings reported better on the QoL domain pain (p < .01). QoL was not related to time since diagnosis but the impact of illness was higher nearer to the time of diagnosis (r = -.39, p < .001). QoL of siblings of children with CHD or cancer was lower than QoL in the CF or type 1 diabetes group whilst impact of illness was highest for the CHD group. QoL of siblings of a child with a chronic illness is similar to the QoL of peers. Studies investigating siblings' QoL or the impact of illness on siblings should include the day-to-day demands of the illness as well as less obvious illness-related issues like 'hidden stress' and 'sense of control'.

European Cystic Fibrosis Society Standards of Care: Framework for the Cystic Fibrosis Centre.

A significant increase in life expectancy in successive birth cohorts of people with cystic fibrosis (CF) is a result of more effective treatment for the disease. It is also now widely recognized that outcomes for patients cared for in specialist CF Centres are better than for those who are not. Key to the effectiveness of the specialist CF Centre is the multidisciplinary team (MDT), which should include consultants, clinical nurse specialist, microbiologist, physiotherapist, dietitian, pharmacist, clinical psychologist, social worker, clinical geneticist and allied healthcare professionals, all of whom should be experienced in CF care. Members of the MDT are also expected to keep up to date with developments in CF through continued professional development, attendance at conferences, auditing and involvement in research. Specialists CF Centres should also network with other Centres both nationally and internationally, and feed Centre data to registries in order to further the understanding of the disease. This paper provides a framework for the specialist CF Centre, including the organisation of the Centre and the individual roles of MDT members, as well as highlighting the value of CF organisations and disease registries.

Lung clearance index predicts pulmonary exacerbations in young patients with cystic fibrosis.

RATIONALE: The lung clearance index (LCI) is a promising endpoint for use in cystic fibrosis (CF) clinical trials, but correlations with validated clinical endpoints have not yet been established. OBJECTIVE: This study aimed to demonstrate that, in young patients with CF, baseline LCI predicts subsequent pulmonary exacerbation (PE) and correlates with the respiratory domain of the CF Questionnaire-Revised (CFQ-Rresp). METHODS: Baseline LCI, forced expiratory volume in 1 s (FEV1), CFQ-Rresp and PEs over the subsequent year were prospectively recorded in 63 patients aged 5-19 years. The ability of baseline LCI to predict PE was assessed using negative binomial regression models and Kaplan-Meier plots. RESULTS: Twenty-six patients (41%) experienced 48 PEs. Baseline LCI and FEV1 were predictors of PE. Compared with the quartile with the lowest LCI, the annual PE rate in increasing LCI quartiles was 2.9 (95% CI 0.5 to 16.5, p=0.238), 5.4 (95% CI 1.0 to 29.0, p=0.045) and 13.6 (95% CI 2.8 to 67.1, p=0.001). Similarly, time to first PE decreased with worsening LCI quartiles (log-rank test for trend, p<0.001). Furthermore, LCI correlated with CFQ-Rresp (r=-0.43, p<0.001). In the subgroup of 53 patients with normal FEV1, LCI was a predictor of PE. In this subgroup, LCI also correlated with CFQ-Rresp (r=-0.282, p=0.043). CONCLUSIONS: Baseline LCI predicts PE in young patients with CF and correlates with CFQ-Rresp, a validated patient-reported outcome, even in the subgroup with normal FEV1. These data further support the use of LCI as a surrogate outcome measure in CF clinical trials.

Pain in CF: review of the literature.

BACKGROUND: This review evaluated pain research in cystic fibrosis (CF). METHODS: OVID MEDLINE, CINAHL, AMED, Web of Science, Pubmed, PsychINFO and PsychARTICLES were searched from January 1995-December 2012 to locate papers assessing pain in CF. A proforma was used to record the rationale for the study, characteristics of the sample, pain assessment tools, pain location, frequency and severity, treatment/self-management, coping and the impact on daily activities and quality of life. RESULTS: All studies (n=13) were retrospective. Chest and abdominal pains were most commonly reported. Pain was negatively associated with pulmonary exacerbations, quality of life and treatment adherence. Approximately 50% of patients do not consult their GP or CF team about pain, with many patients reporting self-management. CONCLUSION: A high incidence of pain is reported in CF although there is little standardization of CF pain measurement. The way forward is to develop guidelines on how to assess pain and provide adequate treatment for pain in CF.

Guiding principles on how to manage relevant psychological aspects within a CF team: interdisciplinary approaches.

Managing CF can be emotionally and physically challenging for patients and their relatives. The disease and its treatment influence the ability to tackle normal tasks of daily living and unexpected life events. The context within which psychologists work varies according to different cultural backgrounds and their professional and theoretical memberships. The benchmarks presented here focus on four crucial issues: (i) identifying a common base of tools and theoretical reflections through suggested readings, (ii) interdisciplinary work within a CF team and its importance for both persons with CF and other healthcare professionals, (iii) the benefits of an eclectic approach utilising cognitive-behavioural theories for specific psychological problems and, (iv) effective and evaluated transition programmes from paediatric to adult healthcare services.

Communication of information about reproductive and sexual health in cystic fibrosis. Patients, parents and caregivers' experience.

BACKGROUND: This review evaluated research concerning communication and information about reproductive and sexual health (RSH) in cystic fibrosis (CF). METHODS: Papers in the English language reporting RSH issues in CF, published between January 2000 and December 2010, were included. The review focused on (a) the content of information given to parents and patients, (b) the timing of information, (c) the sources of information, (d) attitudes and emotional reactions, (e) chronic illness and sexual behavior, (f) methodological and cultural considerations and (g) ethical considerations. RESULTS: Eleven papers were identified originating from Australia, the United Kingdom and Poland. Patients and parents expressed the need for up-to-date, CF-related verbal and written information, provided by the CF team and infertility specialists. Patients were often embarrassed to initiate a discussion. Health care providers expressed the need for training to counsel patients in RSH. CONCLUSION: A pro-active discussion of RSH issues is proposed as a standard part of the care-pathway. A list of recommendations is given to initiate this process.

Adherence to the medical regimen: clinical implications of new findings.

PURPOSE OF REVIEW: Treatment nonadherence is a common problem, yet adherence to treatments is important for the successful management of cystic fibrosis (CF). Previous work has concentrated on rates of adherence in children and adults using self-report questionnaires. Recent studies have employed new measurement methods and evaluated various treatment components. It is important to understand the factors that impede and facilitate adherence in order that research and clinical practice can improve adherence rates. RECENT FINDINGS: There is a high perceived treatment burden in CF. Rates of adherence vary according to the treatment and the measurement method. Reasons for nonadherence are numerous. Even with technology designed to reduce treatment time, adherence to nebulized antibiotics is still poor. Nonadherence is a particular issue in adolescence and there is evidence that girls are less adherent than boys, leading to poorer lung function. Patients who have a cohesive and balanced family life may be better able to incorporate CF treatments. Treatment beliefs and the perception of treatment effectiveness are important determinants of adherence. SUMMARY: Research needs to move forward to understand how to help patients to improve their adherence and to assist healthcare professionals in supporting them. There is a consensus that tailored interventions are essential. In addition, it is important to understand adherence behaviours over time in order to recognize specific periods during a person's life when adherence is more difficult to achieve.

Health related quality of life in cystic fibrosis: To work or not to work?

BACKGROUND: The present study investigated whether patients with CF who are studying or working report a better HRQoL in comparison to non-working/studying patients. METHODS: 57 adult CF patients completed the Cystic Fibrosis Questionnaire-Revised, a CF-specific measure of HRQoL. Medical condition was quantified in terms of FEV1 % predicted, BMI, Pseudomonas aer. status, pancreatic status (PS), having an indwelling catheter device (PAC), CF Related Diabetes Mellitus and nutritional status. RESULTS: Mean age was 26.7 years (SD 8.1), mean FEV1 % predicted was 65.09 (SD 22.18), mean BMI was 21.23 (SD 3.45). FEV1 % predicted was related to HRQoL domains Physical Functioning and General Health (r=0.27 and 0.38 respectively, p<0.05). A higher BMI was associated with better scores on Eating Disturbances (= fewer problems; r=0.44, p<0.01) and a better perception of Weight (r=0.43, p<0.01) and Body Image (r=0.28, p<0.05). Analysis of variance showed that specific domains of HRQoL were related to diabetes (Weight), taking caloric supplements (Body Image and Weight) and/or PAC (Physical Functioning, Treatment Burden, Role, Weight). Twenty-four patients worked/studied, these patients had a higher FEV1, and fewer had Pseudomonas aer. or a PAC or took high caloric supplements, compared to non-working/studying patients. After controlling for medical parameters, patients who were working/studying scored higher than non-working/studying patients on Physical Functioning, Role Functioning and Social Functioning. CONCLUSIONS: CF patients' HRQoL is related to medical status. The non-working/studying CF patients in this sample had greater disease severity and reported a lower quality of life than their working/studying peers, even after controlling for relevant medical parameters. The decision to stop work/study for CF patients is difficult and affects patients' personal, social and financial well-being.

Real life evaluation of intravenous antibiotic treatment in a paediatric cystic fibrosis centre: outcome of home therapy is not inferior.

BACKGROUND: Limited data exist on the efficacy and safety of home intravenous antibiotic (IV-AB) therapy for pulmonary infection specifically in children with cystic fibrosis (CF). METHODS: We report on the outcome of IV-AB in the home vs hospital setting based on retrospective single centre patient data from 1999 to 2004 (age >5 and <18 years). Treatment location was chosen based on estimation of competence, adherence, social background and patient preference. Primary outcome parameter was change in FEV(1). Secondary outcome parameters were weight and IgG as well as occurrence of complications. RESULTS: One hundred and thirty-one treatment observations (TOs) were analysed for 47 patients. Mean age was 13.32 (+/-2.9) years and mean FEV(1) 65 (+/-19) % predicted. Fifty-four (41%) TO's were home and 77 (59%) were hospital treatments. Percent change in FEV(1) and weight gain was comparable in the 2 settings. Complications were rare in both groups. CONCLUSION: The outcome of IV-AB therapy for lung infection in children with CF was not inferior in the home compared to the hospital setting. In our centre, home IV-AB treatment is a valuable treatment option for children with CF.

Quality of life in patients with Cystic Fibrosis: association with anxiety and depression.

BACKGROUND: Few studies of patients with CF have looked at the association between patient reported Health-Related Quality of Life (HRQoL) and anxiety and depression. This study investigated whether CF patients with symptoms of anxiety or depression reported lower Health-Related Quality of Life (HRQoL) scores. METHODS: 57 adult CF patients completed the Hospital Anxiety and Depression Scale (HADS) and the Cystic Fibrosis Questionnaire, a CF-specific measure of HRQoL. Analyses of variance with lung function as a covariate were used to investigate differences in HRQoL between groups of patients with and without symptoms of anxiety and depression. RESULTS: Mean age was 26.7 years (SD 8.1), mean FEV1 %predicted was 65.09 (SD 22.18). Anxiety and depression scores were low and similar to normative scores. After controlling for lung function, patients with symptoms of anxiety reported lower on vitality, emotional functioning, social, treatment burden, health perceptions and respiratory symptoms. Those with depressive symptoms reported lower HRQoL scores for emotional functioning, eating disturbances and body image. CONCLUSIONS: Preliminary evidence was found of the role of anxiety and depression in different areas of quality of life in CF, which may help in the development of appropriate medical and psychosocial treatment programs.

Cystic fibrosis: a balancing act?

Cystic fibrosis has evolved from an illness where children died in their teens to one with a longer life expectancy into adult life. Patients now usually keep themselves in a good physical condition, which gives them an opportunity to live a relatively 'normal' life. There is a catch: a patient can only achieve this by adhering to a strict, complex and time-consuming therapeutic schedule, thereby introducing an abnormal element into a 'normal' life. In this paper we discuss the issue of balancing 'being ill' with 'living like healthy children', and argue that 'normality' is as crucial in any developing CF child as the 'permission' to be ill. An important question arises as a consequence of the major improvements in CF care, namely--'Should all care be done at home or are there advantages in doing part of it in hospital or clinic?' We contend that this is where the balance lies as there are advantages for some care to continue to be done in hospital.