Congenital Central Hypoventilation Syndrome (CCHS) is an uncommon autonomic condition in which breathing, heart rate (HR), and blood pressure are all abnormally regulated (BP). In CCHS, abnormal cerebral oxygenation in response to hypercapnia/hypoxia raises the possibility that aberrant cerebral autoregulation contributes to CCHS-related neurodevelopmental impairment. Examine cerebral autoregulation in CCHS cases vs. controls in response to orthostatic stress. Head-up tilt (HUT) testing created orthostatic pressure in CCHS and age- and sex-matched control patients. They included 50 CCHS recordings and 100 control HUT recordings in the study. They constantly monitored the heart rate, blood pressure, and cerebral oxygen saturation (rSO2). The cerebral oximetry index (COx) was derived based on these measurements, which is a real-time measure of cerebral autoregulation.

In the 5 minutes following tilt-up, HUT resulted in a bigger mean BP decrease from baseline in CCHS vs. controls (11% vs. 6%; P<0.05) and a lower increase in HR in CCHS vs. controls (11% vs. 18%; P<0.01). Despite having identical COx at baseline, orthostatic provocation induced a 50% higher increase in COx (P<0.01) and a 29% increase in minutes of impaired autoregulation (P<0.02) in CCHS compared. Controls within 5 minutes after tilt-up (4.0 vs. 3.1 min). Cerebral autoregulatory systems appear to be intact in CCHS. However, the increased hypotension seen in CCHS due to orthostatic provocation is linked to higher COx levels and decreased autoregulation when blood pressure falls below the lower limits of autoregulation. The effects of frequent orthostatic challenges in everyday life in CCHS require more research to establish their impact on the burden of neurodevelopmental disorder.