Congenital central hypoventilation syndrome (CCHS): Patient quality of life and caregiver burden. Summary of a 2025 Clinical Paper

Congenital central hypoventilation syndrome CCHS Quality of Life and Caregiver Burden Published Paper. A Summary of Key Takeaways and Learnings

A 2025 paper published in the Journal of Pediatric Pulmonology reports the findings of a new study conducted amongst people with CCHS and their caregivers to better understand the impact of CCHS on quality of life. The study data was collected from 78 individuals with CCHS (12 years and over) as well as 193 primary caregivers recruited through CCHS family support organisations across 15 different countries.

“This is the largest, most comprehensive study ever undertaken to improve our understanding of the impact of CCHS on the daily lived experience of both individuals with CCHS and their family members. The results will guide future research, clinical care, and development of therapies to reduce the burden of living with CCHS.”
Casey M Rand, Manager, Clinical Research, Center for Autonomic Medicine in Pediatrics (CAMP)

Key Findings of the Paper

CCHS negatively impacts quality of life, with 50% of individuals reporting dissatisfaction with their overall health
One of the key challenges uncovered is the impact CCHS has on cognitive function with 68% reporting effects on memory and concentration.
Only 7% of individuals with CCHS gave the lowest overall quality of life rating as poor or very poor. This may be attributed to the genetic nature of CCHS, as individuals are born with the condition and do not know life without it, leading to resilience and acceptance.
96% of caregivers were worried about their loved one’s future.
Caregivers for CCHS carry a high burden with diseases like Parkinson’s and Alzheimer’s having lower burden scores on the same scale

What Did The Study Investigate?

The study investigated patient quality of life (meaning overall well-being) across four key areas: Physical Health, Psychological Well-being, Social Relationships and Environment.

Living with CCHS means a person is dependent on medical technology every day and almost all patients use a ventilator via a tracheostomy or mask at night (and sometimes during the day). This provides life-support to manage Oxygen and CO2 levels and stabilise breathing. They need close monitoring, regular medical visits and assistance from caregivers or nurses to manage their equipment and health. This constant management can influence many parts of a patient’s life from physical abilities and energy levels to mood and social activities.

More than half (55%) report a significant negative impact around their dependency on medical treatments (notably ventilators).
48% are affected by energy/fatigue problems.
47% have issues with sleep quality.
Approx 35% experience difficulties around mobility

Psychological well-being

Psychological well-being- Patients reported emotional stress and challenges with thinking (concentration/memory) or mood.

The majority (68%) report an impact on cognitive functions, including concentration, memory and learning.
45% indicate issues with self-esteem and body image
Negative emotions (e.g., anxiety, depression) affect a substantial minority (20% reporting a moderate to severe impact).

Social relationships

Social relationships –Patients scored lower on social aspects, suggesting it can be hard to engage in social activities or maintain relationships, possibly due to their medical needs or fatigue

Around 48% report a significant impact on their ability to form or sustain personal relationships.
69% indicate difficulties in sexual relationships or intimacy, likely related to their chronic condition and medical interventions.
Women tended to score slightly higher in social relations (average 62 points) compared to males (average 51 points), which was statistically significant

Environment

Environment Environment questions covered factors such as home safety, financial resources, access to information, recreation, and access to healthcare services.

43% are concerned about physical safety and security
Around 48% have experienced financial difficulty due to ongoing healthcare expenses and specialised medical equipment.
45% indicate difficulties in accessing health and social care services.

Overall conclusions from patient reporting

Despite the challenges uncovered across these specific areas, most CCHS patients still felt positive about their overall quality of life. Over 70% of patients rate their overall life quality as “good”. Only a small minority (around 7%) describe their overall quality of life as poor.

This suggests that many individuals with CCHS show resilience and adapt to their condition over time. Patients often grow up knowing no different way of life, which may help them to cope with the demands of their condition such as using ventilators, a tracheostomy or other medical equipment.

Impact on caregivers and family

CCHS doesn’t only affect patients, it profoundly impacts caregivers, usually parents or family members. Caring for someone with CCHS often means 24/7 vigilance.

The results show that caregivers of CCHS patients experience a very high burden overall. Caregivers of adults with other serious chronic conditions like Parkinson’s disease or even Alzheimer’s tend to have lower burden scores on the same scale 2, suggesting that CCHS caregiving is especially demanding.

Key takeaways around caregiver challenges and patterns from the study include:

96% of caregivers worry about the future of their CCHS child/relative
84% report insufficient time for themselves.
72% feel their health has suffered due to caregiving.
87% report feeling stressed balancing caregiving with other responsibilities.
52% caregivers sometimes, frequently, or nearly always feel financial resources are insufficient to care for the person with CCHS.

Worries for the future were significant across the group of caregivers interviewed, with 96% reporting they are worried about the future of their loved one with 60% feeling they have lost control over their own life due to caregiving.

Concluding Observations

CCHS is a lifelong breathing disorder that affects not just the person born with it, but also their family’s daily life. Their quality of life is lower in areas like health and social life compared to people without CCHS, though many still maintain a positive outlook about their life overall.

Caregivers, meanwhile, carry a heavy load, experience substantial stress and must remain attentive at all times to keep their loved one safe. The study highlighted that this caregiving burden is higher than typical for many other chronic diseases, and issues like financial stress can make it even more so.

This research highlights the need for resources and interventions to improve quality of life for patients and to support caregivers, for example, through respite care, financial assistance, or community support networks so that families affected by CCHS can lead healthier, less strained lives.