Authors:

Skyla C Kiang

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' Northwestern University Feinberg School of Medicine, Chicago, IL 60611 USA ° Department of Pediatric Neuropsychology, Children's Healthcare of Atlanta, Atlanta, GA 30342 USA email: skylakiang2026@u.northwestern.edu *PI: molly.winston@choa.org Congenital Central Hypoventilation Syndrome (CCHS) is an ultra-rare disorder of autonomic nervous system (ANS) regulation. Caused by mutations in the PHOX2B gene, CCHS manifests as hypoventilation with hypercarbia/hypoxemia, necessitating assisted ventilatory life-support asleep and sometimes awake. Individuals with CCHS demonstrate variably reduced neurocognitive functioning relative to population norms. Genotype and clinical predictors have not consistently predicted neurocognition in CCHS, and influence of social predictors has not yet been investigated. This study aims to determine a comprehensive set of predictors of neurocognitive variability in CCHS. 39 CCHS patients (3-46yrs) completed the NIH Toolbox® Cognition Battery (NTCB) measuring Fluid, Crystallized, and Total Cognition composites. 33 patients completed the Behavior Rating Inventory of Executive Function® (BRIEF) assessing executive functioning impairment scored via Global Executive Composite (GEC). Clinical variables hypothesized to influence neurocognition were collected. Participant zip codes were converted to Child Opportunity Index (COI) National score measuring neighborhood opportunity levels. Stepwise regressions identified the strongest predictors for the four composite outcomes. NTCB Fluid (p<0.0001) and Total Cognition (p=0.002) scores were downward shifted in CCHS. For the NTCB Fluid Cognition composite, PHOX2B genotype and COI National demonstrated significant associations (p=0.005 and 0.018, respectively), followed by cyanosis history as the next strongest predictor. For Crystallized Cognition, PHOX2B genotype and neural crest tumor showed the strongest directional effects. For Total Cognition, PHOX2B genotype and COI! National emerged as significant predictors (p=0.009 and 0.033, respectively), followed by neural crest tumor history. For BRIEF GEC, neurodevelopmental disorders history and COI National accounted for the most explained variance. These findings demonstrate that neurocognitive functioning in individuals with CCHS is influenced by clinical and social factors. Identifying both clinical and social predictors highlights the need to integrate environmental context into patient care, providing a more comprehensive framework for targeted interventions with aim to optimize neurodevelopmental outcomes for CCHS patients.

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Northwestern University

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Co-authors:

Skyla C Kiang