Abstract
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic and
respiratory regulation that frequently alters oxygen delivery to the brain. In CCHS,
neurocognitive function has been of great concern because of the potential for repeated
hypoxemia and hypercarbia in activities of daily living in addition to hypoventilation with
related hypoxemia and hypercarbia during sleep. As the world's leading referral center for
CCHS, the Center for Autonomic Medicine in Pediatrics (CAMP) is engaged in ongoing research
to identify factors that impact neurocognitive performance in patients with CCHS in order to
optimize clinical management and improve long term neurocognitive outcomes.
The purpose of this IRB-approved research study is to implement the NIH Toolbox as a standard
measurement of cognitive health in patients with CCHS. Further, the study aims to determine
how intrinsic and extrinsic disease factors such as age at diagnosis, PHOX2B mutation type
and genotype, and nature of past and present artificial respiratory intervention affect the
NIH Toolbox Cognitive scores of individuals with CCHS. Eligible participants will complete a
45-minute NIH Toolbox assessment and parents (or adult participants) will complete an
associated, 15-minute Research Electronic Data Capture (REDCap) questionnaire.
