The Swiss Primary Ciliary Dyskinesia registry: an update

Goutaki, Myrofora; Halbeisen, Florian S.; Wisse, Agatha; Barben, Juerg; Casaulta, Carmen; Clarenbach, Cristian; Jung, Andreas; Latzin, Philipp; Lazor, Romain; Lin, Dagmar; Lurà, Marco; Rochat, Isabelle; Tschanz, Stefan A.; Maurer, Elisabeth; Kuehni, Claudia E.

doi:10.1183/13993003.congress-2019.pa299

Cited by 5 publications

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“…Use of GLI-based FEV 1 z-scores would classify more children below LLN and may lead to inclusion of children with lower severity. People with chronic respiratory disease are often included in national registries[44][45][46]. GLI-based FEV 1 z-scores of Swiss registry participants may wrongly seem to decline from early schoolage through adolescence only because of the age-related change in fit with GLI z-score, not because their disease becomes worse.…”

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confidence: 99%

Age and body mass index affect fit of spirometry Global Lung Function Initiative references in schoolchildren

et al. 2022

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BackgroundReferences from the Global Lung Function Initiative (GLI) are widely used to interpret children's spirometry results. We assessed fit for healthy schoolchildren.MethodsLuftiBus in the school (LUIS) is a population-based cross-sectional study done from 2013–2016 in the canton of Zurich, Switzerland. Parents and children aged 6–17 years answered questionnaires about respiratory symptoms and lifestyle. Children underwent spirometry in a mobile lung function lab. We calculated GLI-based z-scores for FEV1, FVC, FEV1/FVC, and FEF25–75 for healthy White participants. We defined appropriate fit to GLI references by mean values between+0.5 and −0.5 z-scores. We assessed if fit varied by age, body mass index, height, and sex using linear regression models.ResultsWe analysed data from 2036 children with valid FEV1 measurements of which 1762 also had valid FVC measurements. The median age was 12.2 years. Fit was appropriate for children aged 6–11 years for all indices. In adolescents aged 12–17 years, fit was appropriate for FEV1/FVC (mean: −0.09; sd: 1.02) z-scores, but not for FEV1 (mean: −0.62; sd: 0.98), FVC (mean: −0.60; sd: 0.98), and FEF25–75 (mean: −0.54; sd: 1.02). FEV1, FVC, and FEF25–75 z-scores fitted better in children considered overweight (means: −0.25, −0.13, −0.38) than normal weight (means: −0.55, −0.50, −0.55; p-trend: <0.001, 0.014, <0.001). FEV1, FVC, and FEF25–75 z-scores depended on both age and height (p-interaction: 0.034, 0.019, <0.01).ConclusionGLI-based FEV1, FVC, and FEF25–75 z-scores do not fit White Swiss adolescents well. This should be considered when using reference equations for clinical decision making, research and international comparison.

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confidence: 99%

Age and body mass index affect fit of spirometry Global Lung Function Initiative references in schoolchildren

et al. 2022

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“…Another strength was the representative study population and the high response rate. Since the study was nested in the national CH-PCD registry, it allowed for an unselected population of people with PCD, including children and adults [20].…”

Section: Discussionmentioning

confidence: 99%

“…Our study was a cross-sectional questionnaire survey nested in the Swiss PCD registry (CH-PCD) [20]. CH-PCD is a patient registry (www.clinicaltrials.gov; identifier NCT03606200) that collects demographic characteristics, diagnostic test results, clinical data, and information about management of patients in Switzerland.…”

Section: Study Design and Study Populationmentioning

confidence: 99%

Respiratory symptoms of Swiss people with primary ciliary dyskinesia

et al. 2022

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BackgroundMostly derived from chart reviews, where symptoms are recorded in a nonstandardised manner, clinical data about primary ciliary dyskinesia (PCD) are inconsistent, which leads to missing and unreliable information. We assessed the prevalence and frequency of respiratory and ear symptoms and studied differences by age and sex among an unselected population of Swiss people with PCD.MethodsWe sent a questionnaire that included items from the FOLLOW-PCD standardised questionnaire to all Swiss PCD registry participants.ResultsWe received questionnaires from 74 out of 86 (86%) invited persons or their caregivers (age range: 3–73 years; median age: 23), including 68% adults (≥18 years) and 51% females. Among participants, 70 (94%) reported chronic nasal symptoms, most frequently runny nose (65%), blocked nose (55%), or anosmia (38%). Ear pain and hearing problems were reported by 58% of the participants. Almost all (99%) reported cough and sputum production. The most common chronic cough complications were gastroesophageal reflux (n=11; 15%), vomiting (n=8; 11%), and urinary incontinence (n=6; 8%). Only 9 participants (12%) reported frequent wheeze, which occurred mainly during infection or exercise, while 49 persons (66%) reported shortness of breath; 9% even at rest or during daily activities. Older patients reported more frequent nasal symptoms and shortness of breath. We found no difference by sex or ultrastructural ciliary defect.ConclusionThis is the first study that describes patient-reported PCD symptoms. The consistent collection of standardised clinical data will allow us to better characterise the phenotypic variability of the disease and study disease course and prognosis.

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“…Our national cross-sectional questionnaire survey was nested in the Swiss PCD registry (CH-PCD). CH-PCD is a patient registry (www.clinicaltrials.gov; identifier NCT03606200) enrolling people with confirmed or clinical diagnoses of PCD in Switzerland [19]. Patients with a clinical PCD diagnosis, have a strong clinical suspicion e.g.…”

Section: Methodsmentioning

confidence: 99%

“…Patients with a clinical PCD diagnosis, have a strong clinical suspicion e.g. situs anomalies, persistent cough, persistent rhinitis, chronic or recurrent upper or lower respiratory infections and history of neonatal respiratory symptoms as term infants but have not completed the diagnostic algorithm and have negative or ambiguous results for the tests performed so far [19][20][21].…”

Section: Study Design and Populationmentioning

confidence: 99%

Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland

Lam

Pedersen

Schreck

et al. 2022

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SummaryAims of the studyWe know little about the level of physical activity, respiratory physiotherapy practices, and nutritional status of people with primary ciliary dyskinesia (PCD), although these are important aspects of patients with chronic respiratory disease. We assessed physical activity, respiratory physiotherapy practices, and nutritional status among people with PCD in Switzerland, investigated how these vary by age, and identified factors associated with regular physical activity.MethodsWe sent a postal questionnaire survey to people with PCD enrolled in the Swiss PCD registry (CH-PCD), based on the standardised FOLLOW-PCD patient questionnaire. We collected information about physical activity, physiotherapy, respiratory symptoms, and nutritional status. We calculated the metabolic equivalent (MET) to better reflect the intensity of the reported physical activities. To assess nutritional status, we extracted information from CH-PCD and calculated participants’ body mass index (BMI).ResultsOf the 86 questionnaires we sent, 74 (86% response rate) were returned from 24 children and 50 adults. The median age at survey completion was 23 years [IQR (interquartile range) 15–51], and 51% were female. Among all 74 participants, 48 (65%) performed sports regularly. Children were vigorously active (median MET 9.1; IQR 7.9–9.6) and adults were moderately active (median MET 5.5; IQR 4.3-6.9). 59 participants (80%) reported performing some type of respiratory physiotherapy. However, only 30% of adults saw a professional physiotherapist compared with 75% of children. Half of the participants had normal BMI; one child (4%) and two adults (4%) were underweight. People who were regularly physically active reported seeing a physiotherapist more often.ConclusionsOur study is the first to provide patient-reported data about physical activity, respiratory physiotherapy, and nutrition among people with PCD. Our results highlight that professional respiratory physiotherapy, exercise recommendations, and nutritional advice are often not implemented in the care of people with PCD in Switzerland. Multidisciplinary care in specialised centres by teams including physiotherapists and nutrition consultants could improve the quality of life of people with PCD.

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The Swiss Primary Ciliary Dyskinesia registry: an update

Cited by 5 publications

References 0 publications

Age and body mass index affect fit of spirometry Global Lung Function Initiative references in schoolchildren

Age and body mass index affect fit of spirometry Global Lung Function Initiative references in schoolchildren

Respiratory symptoms of Swiss people with primary ciliary dyskinesia

Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland

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