Otologic Axis and Sleep-Disordered Breathing in Achondroplasia: Age-Structured Cohort Findings

Sep 30, 2026

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Achondroplasia is associated with substantial ear–nose–throat (ENT) morbidity, yet quantitative age-structured patterns and actionable correlates are not fully defined. This retrospective observational study mapped ENT phenotypes in a consecutive cohort and evaluated prevalence, co-occurrence, age dynamics, and parsimonious risk models across predefined age classes and risk contrasts. Among 83 patients, 64 had achondroplasia. Otitis media and obstructive sleep apnea dominated the ENT burden, with strong co-occurrence and models showing otitis media as an independent clinical marker, supported by a five-item burden score for intervention discrimination.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages17

Reading Time43 min

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Abstract

1. Introduction

Article Otologic Axis and Sleep-Disordered Breathing in Achondroplasia: Age-Structured Cohort Findings Cristina Popescu 1, Rebecca-Cristiana Serban 2,3, Andreea Mitu-Velis, cu 2, Andrei Costache 4, Raluca-Ioana Teleanu 5,6, Diana Ionescu 7,8, Cristian Arsenie 1,*, Renata-Maria Varut 9,*, Ion-Dorin Pluta 10 , Virginia Maria Radulescu 11 and Ioana Streaă 1,2 Academic Editor: Karolina Dz˙aman Received: 17 November 2025 Revised: 11 December 2025 Accepted: 16 December 2025 Published: 19 December 2025 Copyright: © 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license. 1 ENT County Hospital Craiova, Discipline of Anatomy, Department of Anatomy, University of Medicine and Pharmacy, 200349 Craiova, Romania 2 Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania 3 Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania 4 Department of Biophysics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania 5 Department of Neuroscience,“Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, Romania; [raluca.teleanu@umfcd.ro](raluca.teleanu@umfcd.ro) 6 Department of Pediatric Neurology,“Dr. Victor Gomoiu” Children’s Hospital, 022102 Bucharest, Romania 7 Department of ENT,“Dr. Victor Gomoiu” Children’s Hospital, 022102 Bucharest, Romania 8 Faculty of Medicine, Titu Maiorescu University, 022102 Bucharest, Romania 9 Research Methodology Department, Faculty of Pharmacy, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania 10 Faculty of Medical and Behavioral Sciences, Constantin Brâncus, i University of Târgu Jiu, 210135 Târgu Jiu, Romania 11 Department of Medical Informatics and Biostatistics, Faculty of Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania; [virginia.radulescu@umfcv.ro](virginia.radulescu@umfcv.ro) * Correspondence: [arsenie_cristian@yahoo.com](arsenie_cristian@yahoo.com) (C.A.); [renata.varut@umfcv.ro](renata.varut@umfcv.ro) (R.-M.V.) Abstract Background/Objectives: Achondroplasia is linked to distinctive ear–nose–throat (ENT) morbidity, yet quantitative age-structured profiles and actionable correlates remain incompletely defined. This study mapped ENT phenotypes in a consecutive cohort and examined the achondroplasia subset for prevalence, co-occurrence, age dynamics, and parsimonious risk models. Methods: Retrospective observational analysis (1 February 2023–31 January 2025) . Narrative “ENT complications” were dictionary-mapped to five non-exclusive categories: otitis media, adenotonsillar/apnea—obstructive sleep apnea (OSA), audiologic/Eustachian-tube dysfunction (ETD), nasopharyngeal/upper-respiratory (URT), and extra-ENT. Proportions used Wilson 95% confidence intervals (CIs) . Pairwise associations used Fisher’s exact tests with Benjamini–Hochberg false discovery rate (BH-FDR) . Age was summarized by a four-level age-class schema (AC-4: 0–2, 3–5, 6–12, ≥13 years) anda two-level sensitivity contrast (AC-2: ≤5 vs. >5 years) . Results: Of 83 patients, 64 (77.1%) had achondroplasia. In achondroplasia, otitis media occurred in 51.6% and OSA in 28.1%; versus non-achondroplasia, ARDs were +35.8 and +28.1 percentage points (BH-FDR adjusted) . Within achondroplasia, otitis media co-occurred with OSA (odds ratio [OR] 4.97; q = 0.012) and with ETD (OR 7.25; q = 0.012) . OSA increased across AC-4 to school age (p-trend = 0.0548) . In parsimonious models, otitis media independently predicted ETD and OSA. A five-item ENT-burden score discriminated otologic and adeno-tonsillar interventions (AUC 0.83–0.93) . Conclusions: Achondroplasia shows a concentrated ENT burden dominated by otitis media and OSA, with large adjusted absolute differences versus non-achondroplasia. Otitis media

FAQs

What main ENT outcomes were analyzed in the study?

The study mapped ENT complications into five non-exclusive categories: otitis media, adenotonsillar/apnea with obstructive sleep apnea (OSA), audiologic/Eustachian-tube dysfunction (ETD), nasopharyngeal/upper-respiratory (URT), and extra-ENT.

How was age handled in the analysis?

Age was summarized using a four-level age-class schema (0–2, 3–5, 6–12, and ≥13 years) and a two-level sensitivity contrast (≤5 vs. >5 years).

What did the results show about relationships between otitis media, OSA, and ETD in achondroplasia?

Within achondroplasia, otitis media co-occurred with OSA (odds ratio 4.97) and with ETD (odds ratio 7.25). Otitis media also independently predicted both ETD and OSA in parsimonious models.

Sep 30, 2026

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