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.
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Selected References
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- Cohen M. M., Jr, Walker G. F., Phillips C. A morphometric analysis of the craniofacial configuration in achondroplasia. J Craniofac Genet Dev Biol Suppl. 1985;1:139–165. [PubMed] [Google Scholar]
- Guilleminault C., Tilkian A., Dement W. C. The sleep apnea syndromes. Annu Rev Med. 1976;27:465–484. doi: 10.1146/annurev.me.27.020176.002341. [DOI] [PubMed] [Google Scholar]
- Hecht J. T., Butler I. J. Neurologic morbidity associated with achondroplasia. J Child Neurol. 1990 Apr;5(2):84–97. doi: 10.1177/088307389000500203. [DOI] [PubMed] [Google Scholar]
- Henke K. G., Sullivan C. E. Effects of high-frequency pressure waves applied to upper airway on respiration in central apnea. J Appl Physiol (1985) 1992 Sep;73(3):1141–1145. doi: 10.1152/jappl.1992.73.3.1141. [DOI] [PubMed] [Google Scholar]
- Mador M. J., Tobin M. J. Apneustic breathing. A characteristic feature of brainstem compression in achondroplasia? Chest. 1990 Apr;97(4):877–883. doi: 10.1378/chest.97.4.877. [DOI] [PubMed] [Google Scholar]
- Mutoh K., Okuno T., Mikawa H., Hojo H. Maturation of somatosensory evoked potentials upon posterior tibial nerve stimulation. Pediatr Neurol. 1988 Nov-Dec;4(6):342–349. doi: 10.1016/0887-8994(88)90080-x. [DOI] [PubMed] [Google Scholar]
- Nelson F. W., Goldie W. D., Hecht J. T., Butler I. J., Scott C. I. Short-latency somatosensory evoked potentials in the management of patients with achondroplasia. Neurology. 1984 Aug;34(8):1053–1058. doi: 10.1212/wnl.34.8.1053. [DOI] [PubMed] [Google Scholar]
- Nelson F. W., Hecht J. T., Horton W. A., Butler I. J., Goldie W. D., Miner M. Neurological basis of respiratory complications in achondroplasia. Ann Neurol. 1988 Jul;24(1):89–93. doi: 10.1002/ana.410240117. [DOI] [PubMed] [Google Scholar]
- Plowman L., Lauff D. C., Berthon-Jones M., Sullivan C. E. Waking and genioglossus muscle responses to upper airway pressure oscillation in sleeping dogs. J Appl Physiol (1985) 1990 Jun;68(6):2564–2573. doi: 10.1152/jappl.1990.68.6.2564. [DOI] [PubMed] [Google Scholar]
- Reid C. S., Pyeritz R. E., Kopits S. E., Maria B. L., Wang H., McPherson R. W., Hurko O., Phillips J. A., 3rd, Rosenbaum A. E. Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. J Pediatr. 1987 Apr;110(4):522–530. doi: 10.1016/s0022-3476(87)80542-5. [DOI] [PubMed] [Google Scholar]
- Stokes D. C., Phillips J. A., Leonard C. O., Dorst J. P., Kopits S. E., Trojak J. E., Brown D. L. Respiratory complications of achondroplasia. J Pediatr. 1983 Apr;102(4):534–541. doi: 10.1016/s0022-3476(83)80180-2. [DOI] [PubMed] [Google Scholar]