Time trends in diagnostic testing for primary ciliary dyskinesia in Europe

Halbeisen, Florian S.; Shoemark, Amelia; Barbato, Angelo; Boon, Mieke; Carr, S.B.; Crowley, Suzanne; Hirst, Rob A.; Karadağ, Bülent; Koerner-Rettberg, Cordula; Loebinger, Michael R.; Lucas, Jane S.; Maître, Bernard; Mazurek, Henryk; Özçeli̇k, Uğur; Martinů, Vendula; Schwerk, Nicolaus; Thouvenin, Guillaume; Tschanz, Stefan A.; Yiallouros, Panayiotis Κ.; Goutaki, Myrofora; Kuehni, Claudia E.

doi:10.1183/13993003.00528-2019

Cited by 20 publications

(16 citation statements)

References 17 publications

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“…From our experience as a reference centre, we strongly believe that patient clinics are determinant for diagnostics. As mentioned before, expert personnel and expensive techniques are required, so only a compatible clinical history justifies the study [26]. Therefore, it is necessary that primary care clinicians, paediatricians, Ear, Nose and Throat clinicians (ENTs), and pulmonologists know PCD clinical compatible symptoms, in order to select which patients to refer to PCD centres.…”

Section: Discussionmentioning

confidence: 99%

Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre

Armengot-Carceller

Reula

Mata‐Roig

et al. 2020

JCM

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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.

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Section: Discussionmentioning

confidence: 99%

Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre

Armengot-Carceller

Reula

Mata‐Roig

et al. 2020

JCM

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“…For this analysis, we included only patients from data providers who had also contributed data on the neonatal period for their patients ( Figure 1 and Supplementary Materials Table S1 ). We further excluded patients diagnosed before the year 2000 because PCD diagnosis has evolved considerably during the past 20 years and because we were mainly interested in recent data that are representative of contemporary neonatal care [ 22 ].…”

Section: Methodsmentioning

confidence: 99%

Late Diagnosis of Infants with PCD and Neonatal Respiratory Distress

Goutaki

Halbeisen

Barbato

et al. 2020

JCM

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Neonatal respiratory distress (NRD) is common among infants with primary ciliary dyskinesia (PCD), but we do not know whether affected neonates receive a timely diagnosis. We used data from the international PCD cohort and assessed the proportion of patients with PCD who had a history of NRD and their age at diagnosis, stratifying by presence of laterality defects. First we analyzed data from all participants diagnosed after 2000, followed by individuals from a subgroup diagnosed using stricter criteria. Among the 1375 patients in the study, 45% had a history of NRD and 42% had laterality defects. Out of the 476 children with definite PCD diagnosis, 55% had a history of NRD and 50% had laterality defects. Overall, 30% of children with PCD were diagnosed during the first 12 months of life. This varied from 13% in those with situs solitus and no NRD, to 21% in those with situs solitus and NRD, 33% in those with situs anomalies but no NRD, and 52% in those with both situs anomalies and NRD. Our results suggest that we need to improve our knowledge of the neonatal presentation of infants with PCD and apply it so that these patients will receive appropriate care sooner.

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“…The service collects diagnostic information, annual clinical assessments (symptoms and examinations), investigations (microbiology, spirometry, audiology, etc.) and information on treatments, contributes to the iPCD Cohort [30][31][32][33][34][35]50] and the International PCD Registry [36], and has published extensively [19,[56][57][58][59][60][61][62][63][64][65][66][67][68][69][70][71][72][73][74]. Currently, the service includes 396 children, of a median age of 9.8 years, 53% males, the majority being white British (37%) or Pakistani/British Pakistani (36%).…”

Section: English Paediatric Pcd Management Servicementioning

confidence: 99%

“…For each planned analysis, eligible data are validated, cleaned and standardised. So far, the iPCD Cohort has published data on growth, nutrition, lung function and PCD diagnostics [30][31][32][33][34][35]50].…”

Section: The Ipcd Cohortmentioning

confidence: 99%

Registries and collaborative studies for primary ciliary dyskinesia in Europe

et al. 2020

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Primary ciliary dyskinesia (PCD) is a rare inherited disease characterised by malfunctioning cilia leading to a heterogeneous clinical phenotype with many organ systems affected. There is a lack of data on clinical presentation, prognosis and effectiveness of treatments, making it mandatory to improve the scientific evidence base.This article reviews the data resources that are available in Europe for clinical and epidemiological research in PCD, namely established national PCD registries and national cohort studies, plus two large collaborative efforts (the international PCD (iPCD) Cohort and the International PCD Registry), and discusses their strengths, limitations and perspectives.Denmark, Cyprus, Norway and Switzerland have national population-based registries, while England and France conduct multicentre cohort studies. Based on the data contained in these registries, the prevalence of diagnosed PCD is 3–7 per 100 000 in children and 0.2–6 per 100 000 in adults. All registries, together with other studies from Europe and beyond, contribute to the iPCD Cohort, a collaborative study including data from over 4000 PCD patients, and to the International PCD Registry, which is part of the ERN (European Reference Network)-LUNG network.This rich resource of readily available, standardised and contemporaneous data will allow obtaining fast answers to emerging clinical and research questions in PCD.

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Time trends in diagnostic testing for primary ciliary dyskinesia in Europe

Cited by 20 publications

References 17 publications

Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre

Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre

Late Diagnosis of Infants with PCD and Neonatal Respiratory Distress

Registries and collaborative studies for primary ciliary dyskinesia in Europe

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