Audrey Dunn Galvin

Newborn transepidermal water loss values: a reference dataset.

Transepidermal water loss (TEWL) is a simple noninvasive measurement of inside‐out skin barrier function. The goal of this research was to establish normal values for TEWL in early life using data gathered from the Cork BASELINE Birth Cohort Study. TEWL was recorded in a standardized fashion using a well‐validated open‐chamber system. A mean of three readings was recorded from 1,036 neonates (37–42 weeks gestational age) and 18 late preterm infants (34–37 weeks gestational age) within 96 hours of birth in an environmentally controlled room. Full‐term neonatal TEWL measurements have a normal distribution (mean 7.06 ± 3.41 g of water/m2 per hour) and mean preterm neonatal TEWL measurements were 7.76 ± 2.85 g of water/m2 per hour. This is the largest evaluation to date of TEWL in a normal‐term neonatal population. It therefore constitutes a reference dataset for this measurement using an open‐chamber system.

A quality-of-life measure for adults with primary ciliary dyskinesia: QOL–PCD

Primary ciliary dyskinesia (PCD) is characterised by chronic suppurative lung disease, rhino-sinusitis, hearing impairment and sub-fertility. We have developed the first multidimensional measure to assess health-related quality of life (HRQoL) in adults with PCD (QOL–PCD). Following a literature review and expert panel meeting, open-ended interviews with patients investigated the impact of PCD on HRQoL in the UK and North America (n=21). Transcripts were content analysed to derive saturation matrices. Items were rated for relevance by patients (n=49). Saturation matrices, relevance scores, literature review, evaluation of existing measures, and expert opinion contributed to development of a preliminary questionnaire. The questionnaire was refined following cognitive interviews (n=18). Open-ended interviews identified a spectrum of issues unique to adults with PCD. Saturation matrices confirmed comprehensive coverage of content. QOL–PCD includes 48 items covering the following seven domains: Physical Functioning, Emotional Functioning, Treatment Burden, Respiratory and Sinus Symptoms, Ears and Hearing, Social Functioning, and Vitality and Health Perceptions. Cognitive testing confirmed that content was comprehensive and the items were well-understood by respondents. Content validity and cognitive testing supported the items and structure. QOL–PCD has been translated into other languages and is awaiting psychometric testing. QOL–PCD: quality of life measure for primary ciliary dyskinesia is ready for multi-national psychometric testing http://ow.ly/KAYyG

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. The international PCD patients’ diagnostic experience calls for earlier referral and access to specialist services http://ow.ly/lxsR300T8kO

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 (Cronbachs 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.

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

BackgroundPrimary 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.MethodMEDLINE, 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.ResultsFourteen 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.ConclusionHealth-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.

A short simple tool to measure the impact of food allergy on patients in routine clinical practice; the Food Allergy Quality of Life Questionnaire, Parent Form 10 (FAQLQ-PF10)

Aim Food Allergy is suboptimally managed, and the future risk for patients with regard to health status and quality of life is rarely evaluated in clinical contexts. Existing assessments do not meet physicians’ needs for a short simple tool to measure the impact of food allergy on patients health related quality of life (HRQL) in routine clinical practice. We aimed to modify the well-validated Parent Form of Food Allergy Quality of Life Questionnaire (FAQLQ-PF) to develop a short, reliable, valid, one scale measure.

Should peanut allergy screening be introduced for all Irish children

Rationale There has been an incremental increase in peanut allergy worldwide in recent decades. Unlike other major food allergens, peanut allergic children are unlikely to acquire tolerance in childhood. Peanut and treenuts are the most common foods implicated in food induced anaphylaxis. We use the data gathered from a large unselected Irish birth cohort study to assess whether screening for Peanut Allergy should be implemented in Irish children.

Early life Transepidermal Water Loss (TEWL) values as a predictor of food allergy and sensitisation at 2 years: results from the BASELINE Study

Rationale Food Allergy is a growing public health concern. There is observational evidence that exposure to food allergens across a disrupted skin barrier can lead to food sensitisation (FS) and food allergy (FA). This mechanism of action has subsequently been proven in murine studies. We sought to ascertain whether a non invasive measurement of skin barrier function at 3 time points in early infancy could predict the development of food sensitisation and allergy in asymptomatic infants enrolled in an unselected prospective birth cohort.

Translation and cultural adaptation to Portuguese of Food Allergy Quality of Life Questionnaire-Parent Form (FAQLQ-PF)

Methods Cross-cultural translation was performed according to guidelines (Allergy 2010;65:290-295). Linguistic validation consisted in 3 steps: forward translation, backward translation and comprehensibility testing. Two independent translations were performed and a combined consensual version was obtained with an expert support. Subsequently, back-translation was performed and sent to the original author of FAQLQ-PF. After feedback, a consensual version was obtained and tested in parents of food allergic children by cognitive debriefing.

Developing and validating a novel questionnaire to capture bio-psycho-social variables of allergic reactions in the community: the AlleRiC study and the preliminary analyses

Allergic disease is a growing health risk in the modern world, while its management at professional and patients’ levels is unsatisfactory. There is no register of prevalence and biopsychosocial co-factors of allergic reactions as they occur in real world settings. The Allergic Reactions in the Community (AlleRiC) study aims to develop and validate an on-line questionnaire to allow real time food allergic reactions to be reported, with scope for an in depth exploration of related real-world factors. Methods Following focus groups and an expert evaluation, an item pool of 81 items was generated. 39 adults from Ireland and UK, diagnosed with food allergy, evaluated a prototype of the AlleRiC online questionnaire. Individual items of the prototype were psychometrically assessed via a novel Evaluative Scale measuring five different facets of the questions. Results Individual items were evaluated positively by participants (60-70% of positive scores on the Evaluative Scale). Preliminary psychometric analyses of the questionnaire’s items showed good construct, convergent and face validity (Cronbach’s Alpha >0.7). With reference to co-factors, reactions occurred most often in a social context (67% of cases), especially in small groups (29% of cases) of family members, relatives and close friends (44% of cases). 77% of companions were aware of the participants’ food allergy diagnosis. Reactions had a psychological impact with 87% of cases indicating a change in emotional affect following a reaction (from positive to negative affect). Conclusions The AlleRiC study demonstrates potential to provide novel findings, which may give new understanding of the real-world, real time factors t hat give rise to, or prevent, reactions. Such findings will have implications for food allergy management across Europe. As a new psychometric tool: the AlleRiC questionnaire is now undergoing further validation.