Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study

Abstract

BackgroundCongenital central hypoventilation syndrome (CCHS) is a rare genetic disease due to PHOX2B mutations. CCHS patients suffer from many autonomic disorders, dominated clinically by defective ventilatory automatisms. From birth, the life of CCHS patients depends on ventilatory support during sleep, involving a high burden of care. Whether or not this impairs the quality of life of these patients during adulthood remains unknown.MethodsWe applied the medical outcome study short form-36 (SF-36) to 12 CCHS patients aged 15–33 (9 women) at the time of their passage from pediatric to adult care. Scores for the SF-36 dimensions were compared to the age- and gender-matched French reference population after transformation into standardized Z-scores. The SF-36 physical component summary score (PCS) and mental component summary score (MCS) were compared to American reference values.ResultsMedian Z-scores were significantly different from zero for PF (physical functioning, p = 0.020) and GH (general health perception, p = 0.0342) and for PCS (p = 0.020). The other physical dimensions (RP, role limitation due to physical function; BP, bodily pain) and the mental dimensions (VT, vitality; SF, social functioning; RE, role limitation due to emotional function; MH, mental health) and MCS were not altered.ConclusionsWe conclude that, despite the physical constraints imposed by CCHS and its anxiogenic nature, this disease is associated with an impairment of health-related quality of life in young adults that remains moderate. Whatever the underlying explanations, these results convey hope to parents with a child diagnosed with CCHS and for patients themselves.

Current Perspectives for the use of Gonane Progesteronergic Drugs in the Treatment of Central Hypoventilation Syndromes

“…Hypercapnia, acidosis, and hypoxemia, resulting from central hypoventilation, lead to negative short and long-term effects. These include neural damage that induces deleterious effects on cardiovascular function and neurocognitive development, leading to a risk of sudden death and profoundly affecting neurocognitive outcome and long-term quality of life [28-33]. CHS encompass several pathological conditions.…”

Congenital Central Hypoventilation Syndrome in Neonates: Report of Fourteen New Cases and A Review of the Literature

“…In developed countries such as America, France and Japan, specialized centers were established to promote CCHS care and research. With advances in early diagnosis and home ventilation, CCHS patients are surviving into adulthood and reporting good quality of life [51]. From a long-term follow-up of 196 children with CCHS in North America and Europe, vast majority (88%) of parents stated that things got better with time [52].…”

Guidelines for diagnosis and management of congenital central hypoventilation syndrome

“…Ultimately, some remain with parents/family while others find partners who learn to care, or live in communities for young adults with varying disabilities, or live alone with a carer visiting at night, or have dogs trained to respond to monitor alarms. While varied, measurements of the quality of life for young adults appear to be only moderately impaired [100].…”