Health-related quality of life and unmet needs in patients with primary ciliary dyskinesia

Pifferi, Massimo; Bush, Andy; Cicco, Maria Di; Pradal, Ugo; Ragazzo, Vincenzo; Macchia, Pierantonio; Boner, Al

doi:10.1183/09031936.00051509

Cited by 59 publications

(61 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It might possibly be related to the fact that sinusitis may be an earlier event than bronchiectasis and consequently antibiotic treatment might have lead to improvement in sinusitis severity. Since compliance with treatment decreases with age it is possible that later complications may be more severe, but this is speculative [28].…”

Section: Discussionmentioning

confidence: 99%

Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia

Pifferi¹,

Bush²,

Caramella³

et al. 2010

European Respiratory Journal

Self Cite

View full text Add to dashboard Cite

Agenesis of paranasal sinuses has only been described in case reports of patients with primary ciliary dyskinesia (PCD). As agenesis of paranasal sinuses may contribute to low nasal nitric oxide levels, a common finding in PCD, we speculated that this condition might frequently occur in PCD patients.Patients referred for PCD evaluation were consecutively recruited for 30 months. In addition to standard diagnostic testing for PCD, a computed tomography (CT) scan of paranasal sinuses was performed in all subjects.86 patients (46 children aged 8-17 yrs) were studied. PCD was diagnosed in 41 subjects and secondary ciliary dyskinesia (SCD) was diagnosed in the remaining 45 subjects. Frontal and/or sphenoidal sinuses were either aplastic or hypoplastic on CT scans in 30 (73%) out of 41 PCD patients, but in only 17 (38%) out of 45 with SCD (p50.002). There was a significant inverse correlation between the score for aplasia/hypoplasia of each paranasal sinus and nasal NO values in the PCD patients (p50.008, r5 -0.432) but not in SCD (p50.07, r5 -0.271).The findings of aplasia/hypoplasia of the frontal and or sphenoidal sinuses may be part of the spectrum of PCD and this finding should prompt exclusion of this condition.

show abstract

Section: Discussionmentioning

confidence: 99%

Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia

Pifferi¹,

Bush²,

Caramella³

et al. 2010

European Respiratory Journal

Self Cite

View full text Add to dashboard Cite

show abstract

“…These questions are similar to those in other scales that are used for patients with cystic fibrosis and bronchiectasis, including respiratory symptoms such as chronic cough, shortness of breath, sputum will be better instead of phlegm, and headache, but the newly prepared quality of life scale also includes questions on symptoms specific to PCD patients such as nasal discharge, nasal obstruction, chronic otitis, and hearing problems [13][14][15][16]. The reason for adding these items is to question the symptoms developing in association with decreased mucus clearance from the lungs, nose, sinuses, and middle ear due to ciliary dysfunction [1][2][3]17].…”

Section: Discussionmentioning

confidence: 99%

Quality of Life Questionnaire for Turkish Patients with Primary Ciliary Dyskinesia

2017

View full text Add to dashboard Cite

OBJECTIVES:Primary ciliary dyskinesia (PCD) is a major cause of progressive lung disease, and physiological measures do not reflect the impact of the disease on patients' daily symptoms or physical and social functions. We need valid and reliable health-related qualityof-life (HRQOL) measures in PCD to assess the symptoms and daily functions from the patient's perspective. Our aim was to develop a Turkish translation of PCD-specific HRQOL questionnairre to be used as outcomes in clinical trials. MATERIAL AND METHODS:This study was conducted at the Division of Pediatric Pulmonology, Hacettepe University Faculty of Medicine and the Division of Pediatric Pulmonology, Marmara University Faculty of Medicine. Forward and back translations were performed by three different translators. We recruited participants with PCD from different age groups of both sexes, with an aim to represent a wide spectrum of disease severity and performed the prototype of the translation in these participants. RESULTS:Five participants from each age group [children (6-12 years), teenagers (13-17 years), adults (18+ years) and parents of children aged from 6 to 12 years] responded to the HRQOL questionnaire. Content analysis of the questions included the following domains depending on age: Respiratory Symptoms, Physical Functioning, Emotional Functioning, Treatment Burden, Ears and Hearing, Sinus Symptoms, Social Functioning, Role Functioning, Vitality, Health Perceptions, School Functioning, Eating and Weight. After the participants have completed the questionnaire, a cognitive debriefing interview was conducted with them, and the results of the interviews were used to form a final version of PCD-specific HRQOL, ready for formal validation. CONCLUSION:A Turkish translation of PCD-specific HRQOL questionnaire was developed to meet the standards set by international guidelines. This questionnaire is expected to be useful as end points in clinical trials for monitoring health outcomes and for improving clinical decisions. KEYWORDS:Primary ciliary dyskinesia, quality of life questionnaire, forward translation INTRODUCTION Primary ciliary dyskinesia (PCD) is a clinical disorder characterized by chronic lower and upper respiratory tract infections associated with impaired ciliary motility. It has clinical and genetic heterogeneity, and it is mostly inherited as an autosomal recessive disease. Its incidence has been reported to be 1 in 4,000-40,000 live births in various studies conducted to determine its frequency in different societies [1,2]. In our country, where the rate of consanguineous marriage is high, the incidence of PCD is also estimated to be high; however, its exact incidence is unknown. An abnormal ciliary structure and function are found in PCD. Recurrent pulmonary infections due to mucociliary clearance dysfunction in the respiratory system; lower and upper respiratory tract diseases such as bronchiectasis, sinusitis, rhinitis, and decreased hearing; infertility due to sperm immotility in men; and decreased fertility and ectopic pr...

show abstract

“…SGRQ and SF-36 are adult scales and have both been used for patients with non-CF BE [12,13,14,15,16]. Although they have not been validated in children, a few studies have used them for children between the ages of 6 and 12 years [17,18]. There is no specific QOL scale for non-CF BE children.…”

Section: Introductionmentioning

confidence: 99%

Quality of Life in Children with Non-Cystic-Fibrosis Bronchiectasis

et al. 2014

View full text Add to dashboard Cite

Background: Non-cystic-fibrosis bronchiectasis (non-CF BE) continues to be a problem in developing countries and it is therefore important to examine and assess this disease. Objectives: The aims of this prospective study were to evaluate the health-related quality of life (HRQOL) in non-CF BE children and also to assess the risk factors associated with HRQOL. Methods: Forty-two non-CF BE patients between the ages of 9 and 18 years were enrolled in the study. All recruited patients completed the generic Short-Form-36 (SF-36), the St. George's Respiratory Questionnaire (SGRQ) for disease-specific QOL scale and forms on socioeconomic status (SES). The extent and severity of CT abnormalities were evaluated by using the modified Bhalla scoring system. Association between HRQOL questionnaires and demographic variables, pulmonary function test, high-resolution CT scores and SES were evaluated. Results: SF-36 and SGRQ subscales all correlated inversely with each other (SF-36 physical component summary with SGRQ symptoms score: r = -0.466, p = 0.001, activity score: r = -0.666, p = 0.000 and impact score: r = -0.667, p = 0.000. SF-36 mental component summary with SGRQ symptoms score: r = -0.396, p = 0.005, activity score: r = -0.533, p = 0.000 and impact score: r = -0.512, p = 0.000). There was an inverse correlation between SGRQ symptoms scores and the duration of regular follow-up (r = -0.3, p = 0.04). The symptoms subscale of SGRQ correlated positively with low values for pulmonary function testing (r = -0.417, p = 0.003) and frequent antibiotic requirements (r = 0.303, p = 0.035). Conclusions: Early diagnosis and regular follow-up of children with non-CF BE is important for improving their QOL. As expected, the severity and frequency of symptoms are inversely related to the pulmonary function and the QOL scores. A disease-specific questionnaire should be developed to monitor QOL in children with non-CF BE.

show abstract

Health-related quality of life and unmet needs in patients with primary ciliary dyskinesia

Cited by 59 publications

References 30 publications

Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia

Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia

Quality of Life Questionnaire for Turkish Patients with Primary Ciliary Dyskinesia

Quality of Life in Children with Non-Cystic-Fibrosis Bronchiectasis

Contact Info

Product

Resources

About