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. 2025 Mar;60(3):e71012.
doi: 10.1002/ppul.71012.

Congenital Central Hypoventilation Syndrome (CCHS): Patient Quality of Life and Caregiver Burden

Casey M Rand  1   2 , Julien Pelissou  3 , Narayanan Krishnamurthi  1   2 , Xenia Proton de la Chapelle  4 , Martin Samuels  5 , Melinda Riccitelli  6 , Linda Dokas  6 , Ajay Kasi  7 , Bruno Massenavette  8 , Marie-Emilie Lampin  9 , Claire Loire  9 , Debra E Weese-Mayer  1   2   10
Affiliations

Congenital Central Hypoventilation Syndrome (CCHS): Patient Quality of Life and Caregiver Burden

Casey M Rand et al. Pediatr Pulmonol. 2025 Mar.

Abstract

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: Two hundred seventy-one 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.

Keywords: Hirschsprung disease; PHOX2B; Zarit Burden Interview; autonomic nervous system; mechanical ventilation.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
aThose reporting “Never” had significantly lower total burden score than all other subgroups. bThose reporting “Nearly always” had significantly higher total burden score than all other subgroups.
See this image and copyright information in PMC

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Supplementary concepts