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

<b>Background/Objectives</b>: 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. <b>Methods</b>: 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) and a two-level sensitivity contrast (AC-2: ≤5 vs. >5 years). <b>Results</b>: 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 (<i>p</i>-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). <b>Conclusions</b>: Achondroplasia shows a concentrated ENT burden dominated by otitis media and OSA, with large adjusted absolute differences versus non-achondroplasia. Otitis media functions as a practical clinical marker for both OSA and ETD, while a compact burden score may assist intervention triage.

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Journal
Healthcare
Published
2025-12-19
DOI
https://doi.org/10.3390/healthcare14010006
Primary Topic
Connective tissue disorders research
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article
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article

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

Cristian Cosmin Arsenie, Andrei Costache, Raluca Ioana Teleanu, Virginia Maria Rădulescu et al.
Healthcare
Connective tissue disorders research
article

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

Cristian Cosmin Arsenie, Andrei Costache, Raluca Ioana Teleanu, Virginia Maria Rădulescu, Renata-Maria Văruţ, Rebecca-Cristiana Șerban, Ioana Streață, Cristina Popescu, D Ionescu, Andreea Mituț-Velișcu, Ion-Dorin Pluta
article en

Abstract

<b>Background/Objectives</b>: 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. <b>Methods</b>: 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) and a two-level sensitivity contrast (AC-2: ≤5 vs. >5 years). <b>Results</b>: 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 (<i>p</i>-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). <b>Conclusions</b>: Achondroplasia shows a concentrated ENT burden dominated by otitis media and OSA, with large adjusted absolute differences versus non-achondroplasia. Otitis media functions as a practical clinical marker for both OSA and ETD, while a compact burden score may assist intervention triage.

HealthcareVol. 14(1)
Titu Maiorescu University (RO), Carol Davila University of Medicine and Pharmacy (RO), University of Medicine and Pharmacy of Craiova (RO), Constantin Brâncuși University of Targu Jiu (RO), Spitalul Clinic Dr. Victor Babes (RO), University of Craiova (RO)
Openalex Percentile: Top 57%
Connective tissue disorders research
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