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Obstructive sleep apnea in children with Down syndrome
C L Marcus1, T G Keens, D B Bautista
1Division of Neonatology and Pediatric Pulmonology, Childrens Hospital of Los Angeles, CA 90027.
Insights
Children with Down syndrome often have obstructive sleep apnea syndrome (OSAS), including obstructive sleep apnea (OSA), hypoxemia, and hypoventilation. OSAS is frequently present even when not clinically suspected, impacting their health.
Area of Science:
- Pediatric Pulmonology
- Sleep Medicine
- Genetics
Background:
- Children with Down syndrome have predisposing factors for obstructive sleep apnea syndrome (OSAS).
- The specific type and severity of OSAS in this population have not been well-characterized.
- OSAS may contribute to unexplained pulmonary hypertension in Down syndrome.
Purpose of the Study:
- To characterize the type and severity of obstructive sleep apnea syndrome (OSAS) in children with Down syndrome.
- To compare nap polysomnography with overnight polysomnography for diagnosing OSAS in this cohort.
- To investigate the clinical suspicion of OSAS versus polysomnographic findings.
Main Methods:
- Fifty-three children with Down syndrome underwent polysomnography (nap or overnight).
- Measurements included chest wall movement, heart rate, electrooculogram, and blood gases (PO2, PCO2).
- Overnight polysomnography was performed on 16 subjects.
Main Results:
- Nap polysomnograms were abnormal in 77% of children; overnight studies were abnormal in 100%.
- Obstructive sleep apnea (OSA), hypoventilation, and desaturation were common findings.
- Nap studies underestimated OSAS prevalence compared to overnight studies.
Conclusions:
- Children with Down syndrome frequently have OSAS, characterized by OSA, hypoxemia, and hypoventilation.
- OSAS is often present in children with Down syndrome without clinical suspicion.
- Tonsillectomy and adenoidectomy showed some improvement but did not fully normalize polysomnograms in most cases.
Abstract:
Children with Down syndrome have many predisposing factors for the obstructive sleep apnea syndrome (OSAS), yet the type and severity of OSAS in this population has not been characterized. Fifty-three subjects with Down syndrome (mean age 7.4 +/- 1.2 [SE] years; range 2 weeks to 51 years) were studied. Chest wall movement, heart rate, electroculogram, end-tidal PO2 and PCO2, transcutaneous PO2 and PCO2, and arterial oxygen saturation were measured during a daytime nap polysomnogram. Sixteen of these children also underwent overnight polysomnography. Nap polysomnograms were abnormal in 77% of children; 45% had obstructive sleep apnea (OSA), 4% had central apnea, and 6% had mixed apneas; 66% had hypoventilation (end-tidal PCO2 greater than 45 mm Hg) and 32% desaturation (arterial oxygen saturation less than 90%). Overnight studies were abnormal in 100% of children, with OSA in 63%, hypoventilation in 81%, and desaturation in 56%. Nap studies significantly underestimated the presence of abnormalities when compared to overnight polysomnograms. Seventeen (32%) of the children were referred for testing because OSAS was clinically suspected, but there was no clinical suspicion of OSAS in 36 (68%) children. Neither age, obesity, nor the presence of congenital heart disease affected the incidence of OSA, desaturation, or hypoventilation. Polysomnograms improved in all 8 children who underwent tonsillectomy and adenoidectomy, but they normalized in only 3. It is concluded that children with Down syndrome frequently in have OSAS, with OSA, hypoxemia, and hypoventilation. Obstructive sleep apnea syndrome is seen frequently in those children in whom it is not clinically suspected. It is speculated that OSAS may contribute to the unexplained pulmonary hypertension seen in children with Down syndrome.