Evidence map›Paper›PMID 42878887›Full record

ArticleEuropean journal of pediatrics2026

Evaluation of sleep-related breathing disorders and polysomnography findings in pediatric patients with achondroplasia.

Raziye Atan Habacı, Dilara Demirel, Nagehan Emiralioğlu, Meltem Akgül Erdal, Ebru Yalçın, Deniz Doğru, Gizem Ürel Demir, Eda Utine, Pelin Ozlem Simsek Kiper, Uğur Özçelik

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Article in European journal of pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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10 authors.

Raziye Atan Habacı *Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Dilara Demirel *Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye. drdilarademirel@gmail.com.ORCID https://orcid.org/0000-0002-0739-6939
Nagehan EmiralioğluDepartment of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Meltem Akgül ErdalDepartment of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Ebru YalçınDepartment of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Deniz DoğruDepartment of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Gizem Ürel DemirDepartment of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Eda UtineDepartment of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Pelin Ozlem Simsek KiperDepartment of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Uğur ÖzçelikDepartment of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo describe sleep-disordered breathing in children with achondroplasia at their first polysomnography (PSG) assessment and examine associations with clinical characteristics.

methodsThis retrospective study included 49 children evaluated between March 2016 and February 2025. Obstructive sleep apnea syndrome (OSAS) was classified using the obstructive apnea-hypopnea index (oAHI). Total AHI was compared according to sex, upper airway surgery history, foramen magnum stenosis, and vosoritide treatment. Infant findings were also presented separately because severity thresholds require cautious interpretation at this age.

resultsMedian age was 4.48 years (range, 0.22-16.15). OSAS was identified in 39 children (79.6%); 25 (51.0%) met the study criteria for moderate-to-severe disease. Of 15 children without reported sleep-related symptoms, 12 (80.0%) had OSAS, including seven (46.7%) with moderate-to-severe disease. Three children had a central apnea index ≥ 5 events/hour, and two (4.1%) had nocturnal hypoventilation. Total AHI did not differ significantly by sex, surgery history, or foramen magnum stenosis. Median total AHI was 3.2 events/hour in children receiving vosoritide and 6.9 in those not receiving treatment (p = 0.105).

conclusionOSAS was common at the first PSG assessment and was also found in children without reported symptoms. These findings support objective sleep assessment in achondroplasia. The retrospective design and age-dependent interpretation of infant PSG limit conclusions about prevalence and severity; the study cannot establish a respiratory effect of vosoritide. WHAT IS KNOWN: • Achondroplasia increases the risk of obstructive and central sleep apnea. • Reported symptoms may not reliably identify sleep-disordered breathing. WHAT IS NEW: • At first PSG, 12/15 children without reported symptoms had OSAS; 7 had moderate-to-severe disease. • Total AHI did not differ significantly by vosoritide treatment status.

Indexed as

AchondroplasiaPolysomnographySleep Apnea, ObstructiveSleep Apnea SyndromesAdolescentChildChild, PreschoolFemaleHumansInfantMaleRetrospective StudiesSeverity of Illness IndexAchondroplasiaCentral sleep apneaHypoventilationObstructive sleep apneaPolysomnographyVosoritide

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PMID42878887

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