Clinical Paper
Craniofacial Surgery
The prevalence of obstructive sleep apnea in symptomatic patients with syndromic craniosynostosis

https://doi.org/10.1016/j.ijom.2015.10.003Get rights and content

Abstract

The reported prevalence of obstructive sleep apnea (OSA) in patients with syndromic craniosynostosis (SCS) varies due to inconsistent definitions of OSA, lack of uniform diagnostic testing, and different mixes of syndromic diagnoses. The purpose of this study was to determine the prevalence of OSA in symptomatic patients with SCS, and to determine whether this differs by phenotypic diagnosis. A retrospective cohort study of children with SCS was conducted. The primary outcome was presence of OSA diagnosed by polysomnography. The prevalence of OSA was calculated and stratified by diagnosis to compare differences in prevalence and severity (mild, moderate, or severe). The prevalence of OSA in symptomatic patients was 74.2%. Patients with Apert syndrome had the highest prevalence (80.6%), followed by Pfeiffer, Crouzon with acanthosis nigricans, and Crouzon syndromes (72.7%, 66.7%, and 64.7%, respectively). Severe OSA was most common in patients with Pfeiffer syndrome (45.5%), while patients with Apert and Crouzon syndromes were more likely to have moderate OSA (29.0% and 23.5%, respectively). Given that 56.4% of patients with SCS are symptomatic and that 74.2% of these symptomatic patients have OSA, it is recommended that a screening level I polysomnography be part of the clinical care for all patients with SCS.

Section snippets

Materials and methods

This was a retrospective review of patients with SCS presenting to a paediatric teaching hospital between 2000 and 2014. Institutional review board approval was obtained for this study. Following approval, the charts of all patients with a diagnosis of FGFR-related SCS (Apert, Crouzon, Crouzon with acanthosis nigricans, or Pfeiffer syndromes) were identified and reviewed. Patients were excluded from the study if they had been followed for less than 1 year or if they had other causes of airway

Results

Sixty-two of 110 patients (56.4%) with FGFR-related SCS were symptomatic and underwent polysomnography for the evaluation of OSA. Of the 62 symptomatic patients, 24 were female and 38 were male; mean age at evaluation was 7.6 ± 6.5 years. The phenotypic diagnoses included Apert (n = 31), Crouzon (n = 17), Crouzon with acanthosis nigricans (n = 3), and Pfeiffer (n = 11) syndromes (Table 1).

The prevalence of OSA in symptomatic patients was 74.2%. Patients with Apert syndrome had the highest prevalence

Discussion

The purpose of this study was to determine the prevalence of OSA in patients with FGFR-related SCS using polysomnography, and to establish whether there are differences in the prevalence and severity of OSA in patients with different phenotypic diagnoses. Only patients who had clinical symptoms of OSA and underwent polysomnography evaluation were included in the analysis. Among symptomatic patients in the study cohort, the prevalence of OSA was 74.2%; OSA was most prevalent in patients with

Funding

Nothing to declare.

Competing interests

Nothing to declare.

Ethical approval

This study was approved by the Institutional Review Board of the Committee on Clinical Investigation at Boston Children's Hospital, Boston, MA, USA (protocol number 86 IRB-P00006918).

Patient consent

Not required.

References (19)

There are more references available in the full text version of this article.

Cited by (0)

This article was presented as an abstract at the American Academy of Craniomaxillofacial Surgeons Meeting, May 2014, Portland, Oregon, USA.

View full text