Evaluating Neurocognitive Outcomes in Congenital Central Hypoventilation Syndrome Using the NIH Toolbox A Multi-Site Study on Genetic and Treatment Impacts from Childhood to Adulthood

What this Trial Is About

This research aims to study neurocognitive health in patients with congenital central hypoventilation syndrome CCHS, a rare genetic disorder affecting autonomic and respiratory regulation that can impact oxygen delivery to the brain. The study evaluates how genetic factors like PHOX2B mutation type and clinical factors such as age at diagnosis and artificial respiratory support affect cognitive function measured by the NIH Toolbox. The goal is to optimize care and improve long-term cognitive outcomes in individuals with CCHS. Participants will complete the NIH Toolbox Cognition Battery, a 45-minute app-based test on an iPad assessing executive function, attention, memory, and language. Additionally, parents or adult participants will fill out a 15-minute electronic questionnaire collecting information about genetics, diagnosis age, ventilation methods, and disease history. Data collection occurs initially during clinical visits or family network meetings and then annually for longitudinal follow-up. Participants will be assessed through cognitive testing and questionnaires to track neurocognitive performance over time. Researchers will analyze the impact of intrinsic genetic and extrinsic respiratory support factors on cognitive outcomes. The study runs through December 2030 for primary outcome measurement and continues through December 2035. This ongoing observation supports better understanding and management of cognitive health in CCHS patients.

Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)