Background: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder characterized by autonomic dysregulation and abnormal control of breathing, necessitating lifelong artificial ventilation. The impact of CCHS on patient quality of life (QoL) and caregiver burden remains unquantified. Methods: A cross-sectional study of QoL in CCHS patients (≥12 years; WHOQOL–BREF) and burden in CCHS caregivers (Zarit Burden Interview) was conducted. Participants were recruited from CCHS support organizations. Participant age group, sex, primary language, and country of residence were collected. Results: 271 individuals (78 CCHS, 193 caregivers) from 15 countries participated. CCHS patients reported significantly reduced physical, psychological, and social relationships domain scores compared to healthy controls (p<0.01), yet >70% reported good overall QoL. Over half reported moderate or worse impact on QoL items including medical treatment dependence and cognitive function. Young CCHS patients (<25 years) reported better overall QoL and general health than those ≥25 years. CCHS caregiver burden was increased compared to that reported in other chronic diseases, with >50% reporting frequent caregiving-induced stress. Caregivers who reported financial issues also reported higher total burden (p<0.05). Conclusions: CCHS QoL scores are depressed compared to healthy individuals. This study identified specific domains of QoL and caregiver burden most impacted by CCHS, revealed a relationship between age and QoL in CCHS, and finances and burden in caregivers. Results offer targets for future interventions to enhance QoL in CCHS and reduce caregiver burden. Further work is needed to elucidate the relationship between CCHS impact and disease- and treatment-specific factors.

Despite consensus that projected climate changes may result in significant threats to human health, and considerable research on extreme temperature-health risks in adults, there is a paucity of information on pediatric health impacts from extreme temperature conditions. Weather data from Chicago’s O’Hare Airport measured at multiple times/hour were collected for January 1, 2009 to August 1, 2018. Generalized Additive Models (GAMs) were used to investigate the relationships between air temperature and electronic health record data for emergency department (ED) and pediatric intensive care unit (PICU) admissions at a quaternary-pediatric medical center, for the same period. Daily environmental temperatures increased over time as expected, while unexpectedly ED and PICU admissions decreased. Even when temporal trends in each admission-high risk condition variable were accounted for, a consistent negative relationship was found with 0.406 fewer total (0.038 fewer high risk) ED encounters and 0.012 fewer total (0.010 fewer high risk) PICU admissions per 1°F increase in daily environmental temperature using both regression and GAMs. Our results for the ED and PICU admissions are not consistent with previously reported studies. Many of the previous studies were from under-resourced countries in which factors not considered in this study (e.g., food insecurity, other diseases, air quality, natural disasters) existed. These differences point to the need for further clarification of the relationship between environmental temperature and child health.