Otolaryngology Manifestations of Primary Ciliary Dyskinesia: A Multicenter Study

Abstract

Objective This project aims to prospectively and objectively assess otolaryngological manifestations and quality of life of children with primary ciliary dyskinesia (PCD) and compare these findings with healthy pediatric controls. Study Design Cross-sectional. Setting Two high-volume pediatric PCD specialty centers. Methods Standardized clinical assessment; Sino-Nasal Outcome Test 22 (SNOT-22); Hearing Environment and Reflection Quality of Life (HEAR-QL); Reflux Symptom Index (RSI); standardized physical examination of the sinonasal, laryngeal, and otological systems; and investigations including pure-tone audiograms (PTAs) and sinonasal cultures were collected. Results Forty-seven children with PCD and 25 control participants were recruited. Children with PCD had more upper airway symptoms than healthy children. They had significantly higher scores in both SNOT-22 and RSI, indicating worse sinonasal and reflux symptoms, with worse quality of life on the HEAR-QL index compared to healthy children ( P < .05). Fifty-two percent of children with PCD-related hearing loss were not aware of their hearing deficit that was present on audiological assessment, and only 23% of children who had ventilation tubes had chronic otorrhea, most of which was easily controlled with ototopic drops. Furthermore, although all children with PCD had chronic rhinosinusitis, only 36% of them were using topical nasal treatment. The most common bacteria cultured from the middle meatus were Staphylococcus aureus in 11 of 47 (23%), followed by Streptococcus pneumoniae in 10 of 47 (21%). Conclusion This multisite cohort highlights the importance of otolaryngology involvement in the management of children with PCD. More rigorous otolaryngological management may lead to reductions in overall morbidity and improve quality of life for children with PCD.

Otologic disease among patients with primary ciliary dyskinesia - an international observational study

“…39 A recent prospective study among 47 children in North America with PCD reported 38% hearing loss and 19% ear pain. 40 Only including children in the study possibly explains differences with our study, yet a study in the United Kingdom reported abnormal audiometry findings for more than 50% of 271 children. 41 Prevalence of PCD symptoms may also be underreported by patients and parents because they are accustomed to them.…”

“…In a survey among 74 children and adults with PCD in Switzerland, which also used the FOLLOW-PCD questionnaire, participants reported similar prevalence and frequency of most otologic symptoms compared with our study with just a slightly higher overall prevalence of hearing problems, probably because of older age. 42 In comparison with 2019 WHO data on hearing impairment that showed 20% of the global population was affected, we found a much higher prevalence of hearing impairment among participants with PCD. 43…”

Effect of Self-Efficacy Intervention Combined with Humanistic Nursing on Self-Care Ability and Quality of Life in Patients Re-ceiving Chemotherapy for Malignant Tumors

“…Scores of quality of life: The quality of life of the study subjects was assessed from six items: motor ability, daily activities, health consciousness, external support, life view, and adverse reactions. Among them, the first five items were evaluated using QL-Index scale ( 13 ); each item was rated 0–10, and the higher the socre, the higher the quality of life. Adverse reaction was quantified as frequency of occurrence.…”

Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)

“…16 17 A newly published study evaluated 47 children in two PCD centres in North America and found that 52% of children with PCD-related hearing loss were not aware of their hearing deficit that was present on audiological assessment. 18 While otologic involvement seems to improve with age in patients with PCD, sinonasal disease appears to persist and may worsen in adulthood. 19 First manifestations appear sometimes soon after birth and are usually non-specific in the form of rhinitis and episodic facial pain due to recurrent infections leading gradually to chronic rhinosinusitis (CRS).…”