Abstract
The aim of this study was to describe sleep-disordered breathing (SDB) and treatment
in children with achondroplasia (ACH). A retrospective longitudinal study was conducted
at the Sleep Unit, Hospital de Pediatría Garrahan. Children with ACH, aged 0 to 18
years, referred for SDB due to clinical symptoms or foramen magnum stenosis (FMS)
with at least one polysomnography (PSG) between 2002 and 2019 were included in the
study. The primary outcomes included SDB typification and therapeutic interventions.
We included 89 patients; 79.7% had one PSG, 13.4% had two PSGs, and 5.6% had three
PSGs. The first PSG confirmed SDB in 65.16% patients. Obstructive sleep apnea (OSA)
was present in 59.6% patients, central sleep apnea (CSA) in 1.72% patients, OSA + CSA
in 4.49% patients, and normal PSG in 34.83% patients. OSA was mild in 32.07% patients,
moderate in 18.86% patients, and severe in 49.05% patients. Clinical and airway evaluation,
central imaging, evoked potentials, and PSG were considered before each therapeutic
decision. After the first PSG, patients received one or more treatments as needed:
watchful waiting; nasal steroids; ear, nose, and throat surgery; foramen magnum decompression;
and noninvasive ventilation. A second PSG was available in 18 patients and 72.22%
had SDB. A third PSG was available in 10 patients and 77.8% had SDB. We reconfirm
an elevated frequency of SDB in ACH children and underline the need for a multidisciplinary
and stepwise longitudinal approach.
Keywords
noninvasive ventilation - obstructive sleep apnea - polysomnography - achondroplasia
- sleep-disordered breathing
