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Breathing abnormalities in sleep in achondroplasia
K A Waters1, F Everett, D Sillence
1Royal Prince Alfred Hospital Sleep Unit, Camperdown, Australia.
Insights
This study reveals that children with achondroplasia frequently experience sleep-related breathing issues and abnormal somatosensory evoked potentials (SEPs). However, these respiratory problems do not always correlate with SEP abnormalities.
Area of Science:
- Pediatric Pulmonology
- Neurology
- Genetics
Background:
- Achondroplasia is a genetic disorder characterized by disproportionate dwarfism.
- Respiratory abnormalities and potential brainstem dysfunction are concerns in achondroplasia.
- Sleep studies are crucial for evaluating respiratory health during sleep.
Purpose of the Study:
- To investigate the prevalence of sleep-related respiratory abnormalities in individuals with achondroplasia.
- To assess for brainstem abnormalities using somatosensory evoked potentials (SEPs) in this population.
- To explore the relationship between respiratory issues and SEPs in achondroplasia.
Main Methods:
- Overnight polysomnography was conducted on 20 subjects with achondroplasia.
- Somatosensory evoked potentials (SEPs) were recorded in 19 subjects to evaluate brainstem function.
- Participants included children (1-14 years) and young adults (20-31 years).
Main Results:
- All subjects exhibited upper airway obstruction.
- A high prevalence of pathological sleep apnea (75%) was observed.
- Abnormal SEPs were found in 42% of subjects, with no clear correlation to sleep apnea severity.
Conclusions:
- Young individuals with achondroplasia demonstrate a high incidence of sleep-related respiratory problems.
- Abnormal SEPs are also common in this group, but not consistently linked to sleep apnea.
- Sleep-disordered breathing in achondroplasia may not always lead to significant blood gas disturbances or correlate with neurological findings.
Abstract:
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.