2016 ESPO CongressManagement of obstructive sleep apnea in children with achondroplasia: Outcomes of surgical interventions
Introduction
Achondroplasia is the most common type of skeletal dysplasia, estimated to affect more than 250,000 individuals worldwide with an incidence of 1 in 10,000–30,000 births [1]. The phenotype is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3), a transmembrane protein expressed in proliferating chondrocytes responsible for endochondral ossification [2]. Achondroplasia is inherited in an autosomal dominant pattern or can be the result of de novo genetic mutations [3]. In addition to short stature secondary to rhizomelic shortening of the limbs, patients with achondroplasia have distinct facial features characterized by macrocephaly, frontal bossing, midface hypoplasia, and a depressed nasal bridge [4].
Previous research has established that these structural features, in combination with hypotonia of the airway musculature, hypertrophic lymphoid tissue, and restrictive lung disease from thoracic bony deformities, predispose this population to sleep-disordered breathing (SDB) [4,5]. The most common manifestation of SDB is obstructive sleep apnea (OSA), which is estimated to affect approximately 20% of children with achondroplasia [6,7]. Central sleep apnea secondary to brain stem compression from foramen magnum stenosis may further complicate sleeping disorders in this population [[8], [9], [10]].
Despite the complex sleep patterns for children with achondroplasia, management recommendations specific to this population have not been well reported [11]. Previous studies have focused on adenotonsillectomy (AT) alone as treatment for OSA in children with achondroplasia, but few have examined the effectiveness of multilevel surgical interventions [7,8]. Furthermore, studies lack objective measures such as obstructive apnea-hypopnea index (OAHI) from formal polysomnography (PSG) to assess unbiased postoperative changes. The present study aims to evaluate the severity of OSA in children with achondroplasia, report our experience and outcomes with multilevel sleep surgeries in cases of persistent OSA, and postoperative changes on PSG following surgery.
Section snippets
Patient selection
Following Institutional Review Board approval by the University of Utah and the Medical University of South Carolina, a retrospective chart review was conducted on patients under the age of 18 years with International Classification of Diseases Ninth (ICD-9) and Tenth Edition (ICD-10) diagnosis codes for chondrodystrophy (756.4 and G47.33) from 2002 to 2018. We identified children with a confirmed diagnosis of achondroplasia that were evaluated for SDB. Only children who underwent surgical
Patient population
The combined chart review included 77 patients with achondroplasia, of which 32 had obstructive sleep apnea diagnosed with formal PSG. Five children were managed with positive pressure without surgical intervention and were therefore excluded in the analysis. At the time of this study, we excluded eight children that were awaiting or did not have post-operative PSG performed. One child was lost to follow-up and another underwent cervico-medullary decompression and did not undergo airway
Discussion
This study investigated the role of upper airway surgery in the treatment of OSA among children with achondroplasia. As demonstrated with other complex medical conditions associated with SDB, such as mucopolysaccharidoses, trisomy 21, and Prader-Willi syndrome, treatment of OSA in children with achondroplasia remains challenging. Several factors may contribute to poor treatment outcomes in this group. Patients with achondroplasia have significant craniofacial and airway abnormalities that are
Conclusion
A unique approach is necessary for the treatment of OSA in children with achondroplasia due to a physiologic predisposition and increased risk of SDB. Our data support previous studies that indicate TA can be an effective treatment in this population and we additionally report our outcomes of multilevel sleep surgery. However, predicting exactly which patient's sleep parameters will improve or worsen after surgical intervention remains unclear. The management of OSA in children with
Disclosures
This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
Declaration of competing interest
None declared.
Acknowledgements
None.
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