Middle ear ventilation in children with primary ciliary dyskinesia

https://doi.org/10.1016/j.ijporl.2012.07.011Get rights and content

Abstract

Objective

Otitis media with effusion (OME) in children with primary ciliary dyskinesia (PCD) is recurrent and persistent and presents a complex clinical problem for otolaryngologists. We sought to review the otological presentation of children with PCD treated medically and surgically and to compare audiological outcomes and complications of surgical and medical management in children with PCD and correlate these findings with known PCD ultrastructural ciliary phenotype.

Methods

A retrospective review was performed of all patients with PCD and OME presenting from 1991 to 2009. Patients were grouped into “medical management” and “ventilation tube (VT) insertion” groups to observe changes in hearing and post-operative complications.

Results

Of 31 patients with PCD and OME, 20 received VTs and 11 were treated by medical management strategies. A median of one set of VTs (range 1–5) were inserted per patient. Hearing thresholds improved to normal (<25 dB HL) in 80% ears with VTs (mean improvement from 27.1 dB to 22.1 dB (p = 0.034)), whereas patients managed medically had stable thresholds (22.7–23.6 dB (p = 0.397) over the study period. At least one episode of post-operative otorrhea occurred in eight (42.1%) VT insertion patients during the study period, and four had multiple episodes. We could not demonstrate any differences in post-surgical outcomes between patient groups based on ultrastructural ciliary phenotype. Otorrhea was well controlled with medical therapy with only one requiring tube removal. Bilateral cholesteatoma was found in two patients.

Conclusions

Our data support the use of VT insertion as an option for patients with PCD and OME with mild to moderate hearing loss. Patients should be counseled on the possibility of multiple insertions and the likelihood of post-operative otorrhea, although this was not very troublesome in our group. Ultrastructural ciliary phenotype did not appear to alter the likelihood of post-operative otorrhea in our series. Cholesteatoma should be considered as a potential cause of otorrhea in PCD.

Introduction

Primary ciliary dyskinesia (PCD) is a rare, heterogeneous ciliopathic disorder [1], [2], [3], [4]. PCD exhibits an autosomal recessive mode of inheritance and affects between 1 in 15,000–30,000 people [5], [6]. A range of ultrastructural and functional abnormalities of cilia result in the lack of effective ciliary motility, causing abnormal mucociliary clearance [4], [7], [8], [9]. Ciliary function is the cornerstone of multiple physiological systems throughout the body and as such the effects of PCD are far reaching, from clearance of the sinonasal tract to sperm motility [10]. Kartageners syndrome is a subtype of PCD characterized by a triad of sinusitis, bronchiectasis, and situs inversus, affecting approximately 50% of children with PCD [8]. Advances in diagnostic testing in the past decade, including the availability of clinical genetic testing for 13 known disease causing genes [11], nasal nitric oxide as an adjunctive non-invasive diagnostic test [12], and an improved understanding of the limitations of electron microscopy for detecting ciliary ultrastructural defects, now allow us to diagnose PCD with improved precision [9], [10], [13], [14]. Otolaryngologists most commonly see children with PCD for chronic rhinosinusitis, nasal polyps, and almost invariably, otitis media with effusion (OME).

OME is the most common cause of conductive hearing loss in children, affecting 10–30% of all children aged 1–3 years [6], [15], [16]. OME is binaural and recurrent in nearly all children with PCD and persists into adulthood, thereby posing a major problem in this population [3], [4], [6], [17]. The aim of treatment of OME in children is to improve hearing and to mitigate the effects of hearing loss on speech and language development. While in situ, ventilation tubes (VT) can achieve normal hearing thresholds necessary for language acquisition during the critical developmental period [2], [6], [18]. Existing meta-analyses and guidelines support the use of VTs in children who are predisposed to OME or with multiple risk factors as these children may benefit compared [6], [18], [19] to those with only one risk factor. However, some groups have shown that up to 50% of children with PCD develop troublesome otorrhea at some point in their post-operative course [8], [20] which can have a significant impact on quality of life [21]. These groups have recommended a more conservative “medical management” strategy often supplemented with the addition of hearing aids. As the indications and risks of ventilation tube insertion for OME in PCD remain uncertain, we reviewed our experience from a large PCD clinic to outline our management strategies and highlight any differences in outcome.

Section snippets

Methods

Following approval from the Institutional Research Ethics Board, a retrospective chart review was performed of all PCD patients presenting to a tertiary otolaryngology clinic between 1991 and 2009.

Patients were identified from the clinical database of a specialized, multidisciplinary pediatric PCD clinic designed for addressing and optimizing the multiple medical conditions associated with this disorder. Subjects diagnosed with PCD had typical sino-pulmonary symptoms and either one of: a

Results

During the study period, 67 patients were evaluated by the PCD clinic. A subset of 31 patients was referred to the otolaryngology clinic with a median age of 6 years (range 0.7–17). Patient demographics and methods of diagnosis of PCD are summarized in Table 1. The presenting signs and symptoms and management are presented in Table 2. The most common presenting complaints were recurrent ear infections, OME, and subjective hearing loss described by the referring physician or parents. A minority

Discussion

Structural and functional ciliary abnormalities in PCD induce a wide range of ailments throughout the body including productive cough, bronchiectasis, rhinosinusitis, nasal polyposis, otitis media and infertility [4], [7], [9], [20]. As a result, children with PCD benefit from multidisciplinary care. Given the common otological and rhinological clinical presentations of PCD, otolaryngologists provide an important contribution to the multidisciplinary care model [4]. In the present study,

References (25)

  • R. Jahrsdoerfer et al.

    Otitis media and the immotile cilia syndrome

    Laryngoscope

    (1979)
  • P.J. Hadfield et al.

    Treatment of otitis media with effusion in children with primary ciliary dyskinesia

    Clin. Otolaryngol. Allied Sci.

    (1997)
  • Cited by (41)

    • Primary Ciliary Dyskinesia

      2021, Encyclopedia of Respiratory Medicine, Second Edition
    • Primary ciliary dyskinesia in the genomics age

      2020, The Lancet Respiratory Medicine
    • 71 - Primary Ciliary Dyskinesia

      2019, Kendig's Disorders of the Respiratory Tract in Children
    • No evidence of cholesteatoma in untreated otitis media with effusion in children with primary ciliary dyskinesia

      2018, International Journal of Pediatric Otorhinolaryngology
      Citation Excerpt :

      Our observation challenges the belief that untreated OME causes retraction of the TM. There is an association between poor mastoid pneumatisation and cholesteatoma and this may be a consequence of persistent OME [14]. Since the association between OME and cholesteatoma does not explain whether OME is the cause of cholesteatoma or whether they are both sequelae of the same underling problem, such as ET dysfunction, inserting VTs to prevent cholesteatoma may not be beneficial.

    • Hearing loss in children with primary ciliary dyskinesia

      2018, International Journal of Pediatric Otorhinolaryngology
      Citation Excerpt :

      Management varies from conservative approaches including antibiotics and hearing aids to surgical interventions with PET. Significant hearing loss related to OME in the general pediatric population typically warrants PET, but this may not be recommended for patients with PCD due to a potentially higher rate of otorrhea after PET insertion [1,3,4,11,24]. Hadfield et al. does not recommend PET insertion in children with PCD because in addition to persistent mucoid discharge, there was no evident advantage in hearing improvement in this subset of patients [6].

    View all citing articles on Scopus

    Previously presented at AAO-HNSF 2011 Annual Meeting, San Francisco – Oral Presentation.

    View full text