Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood

Abstract Objective Primary ciliary dyskinesia (PCD) is characterized by upper and lower airway disease. Multiple studies have demonstrated the progression of pulmonary disease; however, longitudinal changes in the otologic and nasal symptoms have not been well described in patients. This study defin...

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Main Authors: Isabelle Dagher, Adam J. Kimple, Thomas W. Ferkol, Scott D. Sagel, Sharon D. Dell, Carlos E. Milla, Lang Li, Feng‐Chang Lin, Kelli M. Sullivan, Maimoona A. Zariwala, Michael R. Knowles, Margaret Rosenfeld, Margaret W. Leigh, Stephanie D. Davis, for the Genetic Disorders of Mucociliary Clearance Consortium
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:OTO Open
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Online Access:https://doi.org/10.1002/oto2.70079
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author Isabelle Dagher
Adam J. Kimple
Thomas W. Ferkol
Scott D. Sagel
Sharon D. Dell
Carlos E. Milla
Lang Li
Feng‐Chang Lin
Kelli M. Sullivan
Maimoona A. Zariwala
Michael R. Knowles
Margaret Rosenfeld
Margaret W. Leigh
Stephanie D. Davis
for the Genetic Disorders of Mucociliary Clearance Consortium
author_facet Isabelle Dagher
Adam J. Kimple
Thomas W. Ferkol
Scott D. Sagel
Sharon D. Dell
Carlos E. Milla
Lang Li
Feng‐Chang Lin
Kelli M. Sullivan
Maimoona A. Zariwala
Michael R. Knowles
Margaret Rosenfeld
Margaret W. Leigh
Stephanie D. Davis
for the Genetic Disorders of Mucociliary Clearance Consortium
author_sort Isabelle Dagher
collection DOAJ
description Abstract Objective Primary ciliary dyskinesia (PCD) is characterized by upper and lower airway disease. Multiple studies have demonstrated the progression of pulmonary disease; however, longitudinal changes in the otologic and nasal symptoms have not been well described in patients. This study defines age‐related prevalence, age of onset, and age‐related trends in self‐reported otologic and sinonasal comorbidities in individuals with PCD. Study Design A prospective, longitudinal, multicenter, observational study spanning up to 12 years. Setting Six PCD centers in North America. Methods Inclusion criteria were <19 years of age and a confirmed diagnosis of PCD based on electron microscopy and/or genetics. A standardized medical history questionnaire and physical exam were completed during each study visit. Descriptive statistics were performed for the entire cohort as well as for subgroups based on ciliary ultrastructure. Results A total of 147 participants were followed for an average of 7.6 ± 3.2 years. Pressure equalization tubes (PETs) were placed in 80%, transient hearing loss was reported in 68%, and persistent hearing loss was reported in 30%. Hearing aids and speech therapy were utilized by 8% and 27%, respectively. PETs were placed earlier in those with inner dynein arm/microtubular disorganization defects than those with outer dynein arm defects. Participants reported chronic nasal congestion in 97%, sinusitis in 87%, and 35% underwent >1 sinus surgery. Conclusion There is a high prevalence of reported otologic and sinonasal morbidity among people with PCD that begins during early childhood and persists. Further analysis is indicated to evaluate differences over time among participants with varying ultrastructural defects. Level of Evidence Level 2.
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spelling doaj-art-fbabd9131228474089f3f4b237a4977a2025-08-20T02:48:41ZengWileyOTO Open2473-974X2025-01-0191n/an/a10.1002/oto2.70079Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout ChildhoodIsabelle Dagher0Adam J. Kimple1Thomas W. Ferkol2Scott D. Sagel3Sharon D. Dell4Carlos E. Milla5Lang Li6Feng‐Chang Lin7Kelli M. Sullivan8Maimoona A. Zariwala9Michael R. Knowles10Margaret Rosenfeld11Margaret W. Leigh12Stephanie D. Davis13for the Genetic Disorders of Mucociliary Clearance ConsortiumDepartment of Pediatrics University of North Carolina at Chapel Hill Chapel Hill North Carolina USADepartment of Otolaryngology–Head and Neck Surgery University of North Carolina at Chapel Hill Chapel Hill North Carolina USADepartment of Pediatrics University of North Carolina at Chapel Hill Chapel Hill North Carolina USADepartment of Pediatrics Children's Hospital Colorado, University of Colorado School of Medicine Aurora Colorado USADepartment of Pediatrics BC Children's Hospital Vancouver British Columbia CanadaDepartment of Pediatrics Stanford University Palo Alto California USADepartment of Biostatistics University of North Carolina at Chapel Hill Chapel Hill North Carolina USADepartment of Biostatistics University of North Carolina at Chapel Hill Chapel Hill North Carolina USADepartment of Pediatrics University of North Carolina at Chapel Hill Chapel Hill North Carolina USADepartment of Pediatrics University of North Carolina at Chapel Hill Chapel Hill North Carolina USAMarsico Lung Institute University of North Carolina at Chapel Hill Chapel Hill North Carolina USADepartment of Pediatrics Seattle Children's Hospital, University of Washington School of Medicine Seattle Washington USADepartment of Pediatrics University of North Carolina at Chapel Hill Chapel Hill North Carolina USADepartment of Pediatrics University of North Carolina at Chapel Hill Chapel Hill North Carolina USAAbstract Objective Primary ciliary dyskinesia (PCD) is characterized by upper and lower airway disease. Multiple studies have demonstrated the progression of pulmonary disease; however, longitudinal changes in the otologic and nasal symptoms have not been well described in patients. This study defines age‐related prevalence, age of onset, and age‐related trends in self‐reported otologic and sinonasal comorbidities in individuals with PCD. Study Design A prospective, longitudinal, multicenter, observational study spanning up to 12 years. Setting Six PCD centers in North America. Methods Inclusion criteria were <19 years of age and a confirmed diagnosis of PCD based on electron microscopy and/or genetics. A standardized medical history questionnaire and physical exam were completed during each study visit. Descriptive statistics were performed for the entire cohort as well as for subgroups based on ciliary ultrastructure. Results A total of 147 participants were followed for an average of 7.6 ± 3.2 years. Pressure equalization tubes (PETs) were placed in 80%, transient hearing loss was reported in 68%, and persistent hearing loss was reported in 30%. Hearing aids and speech therapy were utilized by 8% and 27%, respectively. PETs were placed earlier in those with inner dynein arm/microtubular disorganization defects than those with outer dynein arm defects. Participants reported chronic nasal congestion in 97%, sinusitis in 87%, and 35% underwent >1 sinus surgery. Conclusion There is a high prevalence of reported otologic and sinonasal morbidity among people with PCD that begins during early childhood and persists. Further analysis is indicated to evaluate differences over time among participants with varying ultrastructural defects. Level of Evidence Level 2.https://doi.org/10.1002/oto2.70079hearing lossimmotile cilia syndromeKartagener's syndromesinusitis
spellingShingle Isabelle Dagher
Adam J. Kimple
Thomas W. Ferkol
Scott D. Sagel
Sharon D. Dell
Carlos E. Milla
Lang Li
Feng‐Chang Lin
Kelli M. Sullivan
Maimoona A. Zariwala
Michael R. Knowles
Margaret Rosenfeld
Margaret W. Leigh
Stephanie D. Davis
for the Genetic Disorders of Mucociliary Clearance Consortium
Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood
OTO Open
hearing loss
immotile cilia syndrome
Kartagener's syndrome
sinusitis
title Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood
title_full Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood
title_fullStr Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood
title_full_unstemmed Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood
title_short Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood
title_sort progression of otologic and nasal symptoms in primary ciliary dyskinesia throughout childhood
topic hearing loss
immotile cilia syndrome
Kartagener's syndrome
sinusitis
url https://doi.org/10.1002/oto2.70079
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