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. Author manuscript; available in PMC: 2018 Aug 31.
Published in final edited form as: Am J Med Genet A. 2018 Apr 28;176(7):1627–1631. doi: 10.1002/ajmg.a.38720

Table 1.

Sleep study findings for Patients 1 and 2

Patient 1 Patient 2

Age at sleep study 1 month 4 years 1 month
EEG arousal index (per hour), Normal < 14/hour 13.9 22.2 21.8
Respiratory arousal index (per hour) 0.5 2.6 3.4
Obstructive apnea hypopnea index (per hour), Normal < 1/hour 0.2 3.2 23.8
Central apnea hypopnea index (per hour), Normal < 5/hour 4.4 74 1.9
Average saturations (SaO2) 87–93% 91–95% 90–93%
Nadir saturation (SaO2) 81% 65% 81%
% time SaO2 <92% 7.5% 61.4% 13.6%
Awake CO2 (mmHg), Normal = 35–45 mmHg 52–56 36–48 N/A
Average ETCO2/TcCO2, Normal = 35–45 mmHg 52–56 52–60 60–70
% time CO2 >50 torr during sleep 80% 100% 100%
Respiratory rate (per minute) 30–48 8–30 24–28
Heart rate (per minute) 130–158 107–136 135–155
Electrocardiogram abnormalities None None None

Note. Electroencephalogram (EEG) arousal index: Number of arousal divided by total sleep duration; Respiratory arousal index (RAI): Total number of arousal due to respiratory events divided by total sleep duration; Apnea hypopnea index (AHI): Total number of apnea and hypopneas divided by total sleep duration. Based on obstructive or central events respective AHI is calculated (Berry et al., 2017)