Translation of the quality of life questionnaire for primary ciliary dyskinesia (QOL-PCD) into Hebrew: The Israeli experience.
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ABSTRACT: Background
Patients with primary ciliary dyskinesia (PCD) have chronic morbidities affecting their quality of life (QOL). Health-related QOL (HRQOL) has been recognized as an important tool for assessing the burden of PCD on patients and their families. A PCD-specific HRQOL questionnaire (QOL-PCD) was developed and validated for the English-speaking populations. Still, it has not yet been translated into Hebrew or adapted for Israeli PCD patients.Methods
This describes our translation of the original English version of QOL-PCD into a Hebrew version. The process involved forward translation by independent translators, construction of a consensus version, back-translation into the original English version, analysis by the expert committee, and a pretest. The pretest was administered to 20 participants with PCD (the patients and the parents of minor patients) to assess the feasibility and practicality of the tool. Scale and item indices (scale-level content validity index [S-CVI] and item-level content validity index [I-CVI]) were calculated for content validity.Results
All study participants understood the final Hebrew version that the expert committee had approved with no difficulty. The instrument had satisfactory (>0.80) content validity, with S-CVI indexes of 0.99 for the adult version, 0.86 for the parental version, 0.95 for the adolescent version, and 1.00 for the child version.Conclusion
The English version of a QOL-PCD was translated into Hebrew and adapted in Israel. This translation is a valid instrument to assess HRQOL in Hebrew-speaking patients with PCD and their family members. It may be helpful for PCD patient management and research in Israel.
SUBMITTER: Amirav I
PROVIDER: S-EPMC9314800 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:RationaleHaving developed the first disease-specific, health-related quality of life (HRQoL) instruments for children with primary ciliary dyskinesia (PCD), we aimed to assess the psychometric performance of quality of life (QOL)-PCD child, adolescent, and parent-proxy versions in terms of reliability and validity across cross-cultural settings and caring for patients with this rare disease.MethodsChildren (n = 71), adolescents (n = 85), and parents (n = 68) from multiple centers in the UK and North America completed age-appropriate QOL-PCD and generic QOL measures: pediatric QOL inventory, COPD assessment test (CAT), and Sino-Nasal Outcome Test 20. Total of 13 children, 13 parents, and 17 adolescents repeated QOL-PCD 10 to 14 days later to assess test-retest reliability. Multitrait analysis evaluated how the items loaded to hypothesized scales: physical, emotional & social functioning, treatment burden, role, vitality, upper and lower respiratory symptoms, and ears and hearing symptoms. Examination of item-to-total correlations led to removal of three, five, and six items, respectively in the prototype child, adolescent and parent-proxy versions; the validated measures now comprise between 34 and 38 items.ResultsThe QOL-PCD scales had good internal consistency; Cronbach's α for QOL-PCD parent-proxy ranged 0.62 to 0.86. Test-retest reliability demonstrated stability across all scales; for example QOL-PCD adolescent intraclass correlation coefficients ranged 0.71 to 0.89. Significant relationships were found between QOL-PCD scales and similar constructs on generic questionnaires, for example, QOL-PCD adolescent lower respiratory symptoms and the CAT score (r = .64, P < .01); weaker correlations were found between different constructs.ConclusionAge-specific QOL-PCD demonstrated good internal consistency, test-retest reliability, and validity. QOL-PCD offers promising outcome measures for multicenter clinical trials, as well as monitoring symptoms, functioning, and QOL during routine care.
| S-EPMC6851410 | biostudies-literature
Project description:BackgroundThe QOL-PCD questionnaire is a recently developed Health Related Quality of Life (HRQoL) instrument for Primary Ciliary Dyskinesia. The aim of this study was to translate the adult QOL-PCD questionnaire into Greek language and to conduct psychometric validation to assess its performance.MethodsForward translations to Greek and backward translation to English were performed, followed by cognitive interviews in 12 adult PCD patients. The finalized translated version was administered to a consecutive sample of 31 adult, Greek speaking PCD patients in Cyprus for psychometric validation, which included assessment of internal consistency, test-retest reliability, construct and convergent validity. Internal consistency was assessed by Cronbach's alpha test in terms of the overall and sub-scales. Test-retest reliability was assessed by repeat administration of the questionnaire within 2 weeks and calculation of the intra-class correlation (ICC). Construct validity was assessed by comparing different groups of patients based on a-priori hypotheses and convergent validity was evaluated by examining associations between the QOL-PCD and SF-36 questionnaires.ResultsModerate to good internal consistency was observed (Cronbach's α: 0.46-0.88 across sub-scales) and test-retest reliability assessment demonstrated good repeatability for most scales (ICC: 0.67-0.91 across subscales). Patients of female gender, older age and lower lung function exhibited lower QOL-PCD scores in general, while high correlations for most QOL-PCD scales with corresponding SF-36 scales were observed, in particular for physical functioning (r = 0.78, p < 0.05).ConclusionThe adult version of QoL-PCD questionnaire has been translated according to international guidelines resulting to a cross-culturally validated Greek version which exhibited moderate to good metric properties in terms of internal consistency, stability, known-group and convergent validity.
| S-EPMC7178983 | biostudies-literature
Project description:BACKGROUND: Mutations in the DNAI1 gene, encoding a component of outer dynein arms of the ciliary apparatus, are the second most important genetic cause of primary ciliary dyskinesia (PCD), the genetically heterogeneous recessive disorder with the prevalence of ~1/20,000. The estimates of the DNAI1 involvement in PCD pathogenesis differ among the reported studies, ranging from 4% to 10%. METHODS: The coding sequence of DNAI1 was screened (SSCP analysis and direct sequencing) in a group of PCD patients (157 families, 185 affected individuals), the first ever studied large cohort of PCD patients of Slavic origin (mostly Polish); multiplex ligation-dependent probe amplification (MLPA) analysis was performed in a subset of ~80 families. RESULTS: Three previously reported mutations (IVS1+2-3insT, L513P and A538T) and two novel missense substitutions (C388Y and G515S) were identified in 12 families (i.e. ~8% of non-related Polish PCD patients). The structure of background SNP haplotypes indicated common origin of each of the two most frequent mutations, IVS1+2-3insT and A538T. MLPA analysis did not reveal any significant differences between patients and control samples. The Polish cohort was compared with all the previously studied PCD groups (a total of 487 families): IVS1+2-3insT remained the most prevalent pathogenetic change in DNAI1 (54% of the mutations identified worldwide), and the increased global prevalence of A538T (14%) was due to the contribution of the Polish cohort. CONCLUSIONS: The worldwide involvement of DNAI1 mutations in PCD pathogenesis in families not preselected for ODA defects ranges from 7 to 10%; this global estimate as well as the mutation profile differs in specific populations. Analysis of the background SNP haplotypes suggests that the increased frequency of chromosomes carrying A538T mutations in Polish patients may reflects local (Polish or Slavic) founder effect. Results of the MLPA analysis indicate that no large exonic deletions are involved in PCD pathogenesis.
| S-EPMC3014902 | biostudies-literature
Project description:Heterotaxy, a birth defect involving left-right patterning defects, and primary ciliary dyskinesia (PCD), a sinopulmonary disease with dyskinetic/immotile cilia in the airway are seemingly disparate diseases. However, they have an overlapping genetic etiology involving mutations in cilia genes, a reflection of the common requirement for motile cilia in left-right patterning and airway clearance. While PCD is a monogenic recessive disorder, heterotaxy has a more complex, largely non-monogenic etiology. In this study, we show mutations in the novel dynein gene DNAH6 can cause heterotaxy and ciliary dysfunction similar to PCD. We provide the first evidence that trans-heterozygous interactions between DNAH6 and other PCD genes potentially can cause heterotaxy. DNAH6 was initially identified as a candidate heterotaxy/PCD gene by filtering exome-sequencing data from 25 heterotaxy patients stratified by whether they have airway motile cilia defects. dnah6 morpholino knockdown in zebrafish disrupted motile cilia in Kupffer's vesicle required for left-right patterning and caused heterotaxy with abnormal cardiac/gut looping. Similarly DNAH6 shRNA knockdown disrupted motile cilia in human and mouse respiratory epithelia. Notably a heterotaxy patient harboring heterozygous DNAH6 mutation was identified to also carry a rare heterozygous PCD-causing DNAI1 mutation, suggesting a DNAH6/DNAI1 trans-heterozygous interaction. Furthermore, sequencing of 149 additional heterotaxy patients showed 5 of 6 patients with heterozygous DNAH6 mutations also had heterozygous mutations in DNAH5 or other PCD genes. We functionally assayed for DNAH6/DNAH5 and DNAH6/DNAI1 trans-heterozygous interactions using subthreshold double-morpholino knockdown in zebrafish and showed this caused heterotaxy. Similarly, subthreshold siRNA knockdown of Dnah6 in heterozygous Dnah5 or Dnai1 mutant mouse respiratory epithelia disrupted motile cilia function. Together, these findings support an oligogenic disease model with broad relevance for further interrogating the genetic etiology of human ciliopathies.
| S-EPMC4769270 | biostudies-literature
Project description: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.
| S-EPMC5548843 | biostudies-other
Project description:BackgroundDefining the quality of life in the patients with epidermolysis bullosa (EB) is important in patient care and management. Evaluation of quality of life requires a valid and reliable scale. The Quality of Life in Epidermolysis Bullosa (EB-QoL) questionnaire, which is an English 17-item questionnaire, has emerged as a useful tool for assessing the quality of life in the patients with EB.ObjectiveThis study aimed to evaluate the psychometric properties of the Farsi version of the EB-QoL questionnaire among a group of Iranian patients with EB.MethodsThe Farsi version of the EB-QoL questionnaire was finalized after translation and back-translation. From the 100 patients with EB invited to participate in the study, 83 completed the questionnaire (response rate: 83%). Subsequently, the content validity and construct validity of the questionnaire were assessed. The reliability of the questionnaire was assessed with Cronbach's alpha. Moreover, the correlation between EB-QoL scores and EB severity scores (based on the Birmingham Epidermolysis bullosa severity score scale) was evaluated.ResultsA total of 83 patients (40 male and 43 female) with a median age of 15 years (interquartile range, 9-24 years) and an age range between 3 and 43 years were enrolled in this study. Mean ± standard deviation scores from the EB-QoL questionnaire were 43.7 ± 9.9. The translated EB-QoL questionnaire showed a high internal consistency (Cronbach alpha = 0.90) and adequate item-total correlation. Also, there was a significant correlation between EB-QoL and EB severity scores (r = 0.39; p < .001).ConclusionThe Farsi version of EB-QoL questionnaire has acceptable validity and reliability. Thus, the questionnaire can be used for future studies to assess the quality of life among Iranian patients with EB.
| S-EPMC7522813 | biostudies-literature
Project description:BACKGROUND:Due to the lack of a gold standard diagnostic test, reference centres with experienced personnel and costly procedures are needed for primary ciliary dyskinesia (PCD) diagnostics. Diagnostic flowcharts always start with clinical symptoms. Therefore, the aim of this work is to define differential clinical criteria so that only patients clinically compatible with PCD are referred to reference centres. MATERIALS AND METHODS:18 variables from 476 Mediterranean patients with clinically suspicious PCD were collected. After analysing cilia function and ultrastructure, 89 individuals were diagnosed with PCD and 387 had a negative diagnosis. Simple logistic regression analysis, considering PCD as a dependent variable and the others as independent variables, was done. In order to define the variables that best explain PCD, a step-wise logistic regression model was defined. Aiming to classify individuals as PCD or PCD-like patients, based on variables included in the study, a classification and regression tree (CART) was designed. RESULTS AND CONCLUSIONS:Simple logistic regression analysis shows statistically significant association between age at the beginning of their symptomatology, periodicity, fertility, situs inversus, recurrent otitis, atelectasis, bronchiectasis, chronic productive cough, rhinorrea, rhinusinusitis and recurrent pneumonias, and PCD. The step-wise logistic regression model selected situs inversus, atelectasis, rhinorrea, chronic productive cough, bronchiectasis, recurrent pneumonias, and otitis as PCD predictive variables (82% sensitivity, 88% specificity, and 0.92 Area Under the Curve (AUC)). A decision tree was designed in order to classify new individuals based on pansinusitis, situs inversus, periodicity, rhinorrea, bronchiectasis, and chronic wet cough.
| S-EPMC7141270 | biostudies-literature
Project description:Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure, function, and biogenesis leading to chronic infections of the respiratory tract, fertility problems, and disorders of organ laterality. The diagnosis can be challenging, using traditional tools such as characteristic clinical features, ciliary function, and ultrastructural defects and newer screening tools such as nasal nitric oxide levels and genetic testing add to the diagnostic algorithm. There are 32 known PCD-causing genes, and in the future, comprehensive genetic testing may screen young infants before developing symptoms, thus improving survival. Therapies include surveillance of pulmonary function and microbiology, in addition to airway clearance, antibiotics, and early referral to bronchiectasis centers. As with cystic fibrosis (CF), standardized care at specialized centers using a multidisciplinary approach likely improves outcomes. In conjunction with the CF foundation, the PCD foundation, with experienced investigators and clinicians, is developing a network of PCD clinical centers to coordinate the effort in North America and Europe. As the network grows, clinical care and knowledge will improve.
| S-EPMC4873960 | biostudies-literature
Project description:Primary ciliary dyskinesia (PCD) is a rare heterogenous condition that causes progressive suppurative lung disease, chronic rhinosinusitis, chronic otitis media, infertility and abnormal situs. 'Better Experimental Approaches to Treat Primary Ciliary Dyskinesia' (BEAT-PCD) is a network of scientists and clinicians coordinating research from basic science through to clinical care with the intention of developing treatments and diagnostics that lead to improved long-term outcomes for patients. BEAT-PCD activities are supported by EU Framework Programme Horizon 2020 funded COST Action (BM1407). The Inaugural Conference of BEAT-PCD was held in December 2015 in Southampton, UK. The conference attracted ninety-six scientists, clinicians, allied health professionals, industrial partners and patient representatives from twenty countries. We aimed to identify the needs for PCD research and clinical care, particularly focussing on basic science, epidemiology, diagnostic testing, clinical management and clinical trials. The multidisciplinary conference provided an interactive platform for exchanging ideas through a program of lectures, poster presentations, breakout sessions and workshops. This allowed us to develop plans for collaborative studies. In this report, we summarize the meeting, highlight developments, and discuss open questions thereby documenting ongoing developments in the field of PCD research.
| S-EPMC5260785 | biostudies-literature
Project description:BACKGROUND:In this study scales and items for the Oral Cancer Quality-of-life Questionnaire (QOL-OC) were designed and the instrument was evaluated. METHODS:The QOL-OC was developed and modified using the international definition of quality of life (QOL) promulgated by the European Organization for Research and Treatment of Cancer (EORTC) and analysis of the precedent measuring instruments. The contents of each item were determined in the context of the specific characteristics of oral cancer. Two hundred thirteen oral cancer patients were asked to complete both the EORTC core quality of life questionnaire (EORTC QLC-C30) and the QOL-OC. Data collected was used to conduct factor analysis, test-retest reliability, internal consistency, and construct validity. RESULTS:Questionnaire compliance was relatively high. Fourteen of the 213 subjects accepted the same tests after 24 to 48 h demonstrating a high test-retest reliability for all five scales. Overall internal consistency surpasses 0.8. The outcome of the factor analysis coincides substantially with our theoretical conception. Each item shows a higher correlation coefficient within its own scale than the others which indicates high construct validity. CONCLUSIONS:QOL-OC demonstrates fairly good statistical reliability, validity, and feasibility. However, further tests and modification are needed to ensure its applicability to the quality-of-life assessment of Chinese oral cancer patients.
| S-EPMC5934940 | biostudies-literature