Pediatric pulmonology · 2026
International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B Variant.
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Vandemore Delaney R, Lonergan Erin K, Rand Casey M, Weese-Mayer Debra E
Аннотация
INTRODUCTION: CCHS is a rare disorder caused by PHOX2B gene variants. While CCHS hallmarks are hypoventilation and respiratory control dysfunction necessitating lifelong artificial ventilatory support, affected individuals also experience widespread, but less studied, autonomic nervous system (ANS) dysregulation. PHOX2B variants may be divided into moderate and severe groups based upon molecular and in silico data. The International CCHS Registry is a secure repository for longitudinal data from individuals with a PHOX2B variant-confirmed diagnosis, including information on seven systems served by the ANS (cardiovascular, gastrointestinal, neurological, ophthalmologic, renal/urinary, respiratory, sudomotor). Our objective was to analyze patient-reported symptoms (PRS) across all ANS-served systems and determine their relationship with PHOX2B variant severity. We hypothesized an increase in PRS in all organ systems in individuals with severe variants.
METHODS: This study analyzed completed initial surveys. Descriptive statistics were generated for all PRS, and by PHOX2B variant groups, with statistical comparison using the Wilcoxon Rank-Sum and Fisher's exact tests with Benjamini-Hochberg correction.
RESULTS: Analysis of 148 surveys confirmed broad, multi-system ANS dysfunction in CCHS. Those with severe PHOX2B variants were more likely to report cardiovascular, gastrointestinal, neurological, respiratory, and ophthalmological system dysfunction compared to individuals with moderate variants. Individuals with severe PHOX2B variants reported significantly more symptoms in 6/7 organ systems than those with moderate variants.
CONCLUSIONS: The individual-reported impact of CCHS varies by both PHOX2B variant severity and the ANS organ system/symptom manifestations. Beyond the traditional clinical focus on cardiorespiratory dysfunction, these results highlight other ANS-related systems that are critical for comprehensive clinical management and future therapeutic trial design.
METHODS: This study analyzed completed initial surveys. Descriptive statistics were generated for all PRS, and by PHOX2B variant groups, with statistical comparison using the Wilcoxon Rank-Sum and Fisher's exact tests with Benjamini-Hochberg correction.
RESULTS: Analysis of 148 surveys confirmed broad, multi-system ANS dysfunction in CCHS. Those with severe PHOX2B variants were more likely to report cardiovascular, gastrointestinal, neurological, respiratory, and ophthalmological system dysfunction compared to individuals with moderate variants. Individuals with severe PHOX2B variants reported significantly more symptoms in 6/7 organ systems than those with moderate variants.
CONCLUSIONS: The individual-reported impact of CCHS varies by both PHOX2B variant severity and the ANS organ system/symptom manifestations. Beyond the traditional clinical focus on cardiorespiratory dysfunction, these results highlight other ANS-related systems that are critical for comprehensive clinical management and future therapeutic trial design.