Breathing abnormalities in sleep in achondroplasia


Breathing abnormalities in sleep in achondroplasia


Waters K A; Everett F; Sillence D; Fagan E; Sullivan C E


Archives in Disease in Childhood




breathing difficulties; achondroplasia; trajectory; characteristics; upper airways obstruction


Overnight sleep studies were performed in 20 subjects with achondroplasia to document further the respiratory abnormalities present in this group. Somatosensory evoked potentials (SEPs) were recorded in 19 of the subjects to screen for the presence of brainstem abnormalities, which are one of the potential aetiological mechanisms. Fifteen children aged 1 to 14 years, and five young adults, aged 20 to 31 years were included. All had upper airway obstruction and 15 (75%) had a pathological apnoea index (greater than five per hour). Other sleep associated respiratory abnormalities, including partial obstruction, central apnoea, and abnormal electromyographic activity of accessory muscles of respiration, also showed a high prevalence. SEPs were abnormal in eight (42%), but there was no correlation between abnormal SEPs and apnoea during sleep, either qualitatively or quantitatively. A high prevalence of both sleep related respiratory abnormalities and abnormal SEPs in young subjects with achondroplasia was demonstrated. However, the sleep related respiratory abnormalities do not always result in significant blood gas disturbances or correlate with abnormal SEPs in this group.


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Waters K A; Everett F; Sillence D; Fagan E; Sullivan C E, “Breathing abnormalities in sleep in achondroplasia,” Pediatric Palliative Care Library, accessed September 26, 2023,