Primary ciliary dyskinesia: a biopsychosocial approach

Background: Primary ciliary dyskinesia (PCD) is a rare heterogeneous genetic disorder associated with abnormal ciliary structure and function and characterised by progressive sinopulmonary disease. There is no ‘gold standard’ for diagnosing PCD. This thesis aimed: to provide an overview of the PCD patient’s experience, to address some of the complexities in referring and diagnosing PCD patients, and to provide PCD-specific validated health-related quality of life (HRQoL) measures. Method: A patient survey to capture patient experience of diagnostic testing was completed in 25 countries and was followed by semi-structured interviews, analysed thematically. Through the analysis of data from consecutive patients referred to a PCD diagnostic centre (2007-2013), sensitivity and specificity were calculated. Patient clinical characteristics were correlated with diagnostic outcome. Using logistic regression, the predictive performance of the best model was simplified into a tool (PICADAR), predicting the likelihood of referrals having PCD. A PCD-specific HRQoL measure (QOL-PCD) was developed following a literature review, expert panel meeting, and semi-structured interviews (n=21). Validation followed with patients completing QOL-PCD and generic HRQoL measures. Results: PCD was found to have a negative impact on physical, emotional, and social functioning, highlighting need for PCD-specific HRQoL measures. Outcome data for diagnostic testing showed that none of the diagnostic testing strategies were 100% accurate. PICADAR has been shown to have good accuracy and validity to predict diagnostic outcome. The QOL-PCD HRQoL demonstrated good internal consistency, test-retest reliability, convergent and divergent validity. Discussion: Findings from the international survey were used to advise on ERS Task Force guidelines for diagnosing PCD. The development of PICADAR will lead to earlier referral of patients. The development of QOL-PCD provides the first disease-specific measure to allow for the assessment of treatments. Overall this thesis has led to advances in the field of PCD; from diagnosis to the treatment and management of patients

Help-seeking behaviors and mental well-being of first year undergraduate university students

University students demonstrate poor help-seeking behaviors for their mental health, despite often reporting low levels of mental well-being. The aims of this study were to examine the help-seeking intentions and experiences of first year university students in terms of their mental well-being, and to explore these students’ views on formal (e.g. psychiatrists) and informal (e.g. friends) help-seeking. Students from a university in the Republic of Ireland (n=220) completed an online questionnaire which focused on mental well-being and help-seeking behaviors. Almost a third of students had sought help from a mental health professional. Very few students reported availing of university/online supports. Informal sources of help were more popular than formal sources, and those who would avail and had availed of informal sources demonstrated higher well-being scores. Counselors were the source of professional help most widely used. General practitioners, chaplains, social workers, and family therapists were rated the most helpful. Those with low/average well-being scores were less likely to seek help than those with higher scores. Findings indicate the importance of enhancing public knowledge of mental health issues, and for further examination of students’ knowledge of help-seeking resources in order to improve the help-seeking behaviors and mental well-being of this population group

Translating national standards into practice: Supporting social care professionals

The Health Information and Quality Authority [HIQA] was established in 2007 to drive high quality and safe care for people using health and social care services in Ireland. One of the functions of HIQA is to set national standards for services. When developing standards HIQA conducts a thorough review of evidence and extensively engages stakeholders through focus groups, advisory groups and public consultations. To validate the robustness of its processes HIQA distributed a survey to key stakeholders with experience of the standards development processes in 2018. It also undertook an international review of how other organisations approach the development of standards for health and social care services and support their implementation. The survey was completed by 54 stakeholders and 13 organisations were included in the international review. Analysis of the data identified three main themes used internationally to translate national standards into practice improve understanding and increase implementation. There are early engagement with stakeholders; resources and guidance to support implementation and effective dissemination, communication and promotion of both the standards and related resources across services. In response to these findings HIQA is taking steps to help people implement the national standards and to improve the experience and outcomes of people using services

Expanding Care Coordination Scope to Support Covid-19 Population

Covid-19 has caused overwhelming surges of cases in urban areas across the world. To assist with difficult discharges, as well as avoid unnecessary readmissions and ED visits, the care coordination team has created a comprehensive follow up care pathway across the enterprise to support our COVID-19 patients. This care pathway looks to assist Covid patients by reinforcing self-care management, providing education and supporting adherence with scheduled follow up with a primary care provider. Technology was leveraged to interact virtually with patients who are quarantined at home. Jefferson Abington and Jefferson Northeast partnered with DinaCare to utilize their texting platform to engage patients daily for home monitoring. Symptomatic escalations were reviewed and responded to by the RN team for additional outreach. Jefferson Center City and Jefferson New Jersey leveraged the My Chart app component, Care Companion, to survey patients daily. Patients are to be provided with a Pulse Ox monitor in the ED if necessary. Care coordination then monitors daily vital signs that are self reported by patients and engages the patient as appropriate

Translating a Human Rights-based Approach into Health and Social Care Practice

The aim of this work was to translate the legalistic nature of human rights into a practical way of working for those working across health and social care services in Ireland. In particular, it aimed to identify specific barriers to implementation of a human rights-based approach (HRBA) to care, most notably in terms of gaps in knowledge of frontline staff and to develop practical resources such as guidance to show how they can respect, promote and uphold people’s rights. A comprehensive literature review was undertaken and extensive engagement with health and social care stakeholders including, staff, advocates, and adults who use health and social care services was conducted. Stakeholder engagement consisted of public consultations, focus groups, and convening an advisory group. Findings from the literature review and the stakeholder engagement indicate that a lack of understanding regarding how to implement and practically apply a HRBA exists among frontline staff and management in health and social care services. It was identified there was a need to develop guidance to support health and social care staff in understanding a HRBA to care and support and to assist them in the implementation and application of human rights principles in their everyday work

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

Definitions of serious injury in long-term residential care: a systematic review protocol [version 1; peer review: 2 approved]

Background Evidence indicates that the reporting of serious injury in long-term residential care has increased substantially over the past decade. However, what constitutes a serious injury in residential care is poorly and inconsistently defined. This may result in incidences being unnecessarily reported as a serious injury. It is therefore, crucial to develop a consistent definition of serious injury to reduce reporting burden and to facilitate comparison between different residential care settings and across jurisdictions. This protocol describes the methods for a systematic review of existing definitions from the literature to inform the development of a consistent definition of serious injury in long-term residential care. Methods A wide range of published peer-reviewed and grey literature will be sought for this review, including guidance and policy documents. Searches will be conducted of databases including MEDLINE, CINAHL, SocINDEX, Academic Search Ultimate, and Westlaw International. Grey literature database searches will include Trip and Social Care Online. Country specific searches of government and health and social care websites will be conducted. Quality appraisal will be facilitated using the Quality Assessment for Diverse Studies (QuADS) tool and Tyndall’s checklist. The level of confidence in the findings will be assessed using the GRADE CERQual approach. A customised data extraction form will be used to extract data to reduce the risk of bias. Conceptual content analysis of data will facilitate identification of definitions of serious injury and their frequency within texts. Conclusion The findings will inform the development of a consistent definition of serious injury in long-term residential care that will reduce reporting burden, facilitate the accuracy of data collected and allow for comparison across jurisdictions. A more universal and consistent definition will enable regulators, policy makers, service providers and researchers to develop policy and practical interventions to prevent the occurrence of serious injury in long-term residential care

The patient's experience of primary ciliary dyskinesia: a systematic review

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary disease, with symptoms starting soon after birth. The aim of this study is to critically review, analyse, and synthesise the literature in order to understand the experiences of patients with primary ciliary dyskinesia (PCD) and the impact on health-related quality of life. MEDLINE, EBSCO, Cumulative Index to Nursing and Allied Health Literature (CINAHL), PsycINFO and EMBASE were searched according to the inclusion criteria. A qualitative analysis of 14 studies was conducted. Fourteen studies were included in the review, five with qualitative methodologies. Studies originated from the UK, USA, Italy, Denmark and Belgium, one study included a survey distributed internationally. Significant relationships were found between age and worsening of respiratory symptoms, physical, and mental domains of health-related quality of life, with a greater decline compared with reference populations. Variations between the UK and Italy were found for health-related quality of life and its correlation with time since diagnosis. PCD was found to have a physical impact in all age groups: patients found it difficult to keep up with others, and found energy levels were easily depleted compared to family or peers. In terms of social impact, symptoms lead to embarrassment and a sense of isolation, with patients concealing symptoms and/or their diagnosis. In turn, isolation was also linked with the lack of public and medical knowledge. In relation to emotional impact, anxiety was reported in a number of qualitative studies; patients were anxious about getting sick or when thinking about their future health. The burden of treatment and factors influencing adherence were also discussed in depth. Health-related quality of life decreases with age in patients with PCD. For all age groups, PCD was found to greatly impact physical, emotional, social functioning, and treatment burden. More research is needed on the psychosocial impact of the illness, disease burden and its effect on quality of life

Diagnosing primary ciliary dyskinesia: an international patient perspective

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary disease, with symptoms starting soon after birth. A European Respiratory Society (ERS) Task Force aims to address disparities in diagnostics across Europe by providing evidence-based clinical practice guidelines. We aimed to identify challenges faced by patients when referred for PCD diagnostic testing. A patient survey was developed by patient representatives and healthcare specialists to capture experience. Online versions of the survey were translated into nine languages and completed in 25 countries. Of the respondents (n=365), 74% were PCD-positive, 5% PCD-negative and 21% PCD-uncertain/inconclusive. We then interviewed 20 parents/patients. Transcripts were analysed thematically. 35% of respondents visited their doctor more than 40 times with PCD-related symptoms prior to diagnostic referral. Furthermore, the most prominent theme among interviewees was a lack of PCD awareness among medical practitioners and failure to take past history into account, leading to delayed diagnosis. Patients also highlighted the need for improved reporting of results and a solution to the “inconclusive” diagnostic status. These findings will be used to advise the ERS Task Force guidelines for diagnosing PCD, and should help stakeholders responsible for improving existing services and expanding provision for diagnosis of this rare disease

Diagnosing primary ciliary dyskinesia: an international patient perspective

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sino-pulmonary disease, with symptoms starting soon after birth. A European Respiratory Society (ERS) Task Force aims to address disparities in diagnostics across Europe by providing evidence-based clinical practice guidelines. We aimed to identify challenges faced by patients when referred for PCD diagnostic testing.A patient survey was developed by patient representatives and healthcare specialists to capture experience. Online versions of the survey were translated into nine languages and completed in 25 countries. Of the respondents (n=365), 74% were PCD-positive, 5% PCD-negative and 21% PCD-uncertain/inconclusive. We then interviewed 20 parents/patients. Transcripts were analysed thematically.35% of respondents visited their doctor more than 40 times with PCD-related symptoms prior to diagnostic referral. Furthermore, the most prominent theme among interviewees was a lack of PCD awareness among medical practitioners and failure to take past history into account, leading to delayed diagnosis. Patients also highlighted the need for improved reporting of results and a solution to the "inconclusive" diagnostic status.These findings will be used to advise the ERS Task Force guidelines for diagnosing PCD, and should help stakeholders responsible for improving existing services and expanding provision for diagnosis of this rare disease