{
  "abstract": "Introduction Congenital central hypoventilation syndrome (CCHS) is a rare but severe neurocristopathy that is characterised by alveolar hypoventilation due to autonomic dysfunction with deficient central ventilatory control. While traditionally considered a sleep disorder, multiple reports have suggested that daytime hypoventilation may emerge as the disease progresses. However, detailed reports of associated symptoms, clinical trajectory, and interventions remain limited. In this study, we describe a cohort of five paediatric CCHS patients followed up at the Royal Brompton Hospital.Methods We conducted a retrospective chart review of our paediatric CCHS patients, collecting clinical characteristics, genetic diagnoses, and recent transcutaneous O2/CO2 data during the day and night. A telephone questionnaire assessed symptoms of daytime hypoventilation and treatment outcomes.Results The cohort comprised of five patients (3 male, 2 female), with a median age of 13.6 years. All had PHOX2B mutations: 3 with 20/27 polyalanine repeat expansion mutations (PARMs), 1 with 20/26, and 1 with 20/25. Three were tracheostomy-ventilated; two received non-invasive ventilation (NIV). One patient deceased following sepsis. Four patients (80%) reported daytime hypoventilation symptoms (see table 1) and were advised to initiate daytime ventilation. Based on AASM criteria (pCO2 >45 mmHg or 6 kPa), three met the formal diagnostic threshold (one with 20/26 PARMs, two with 20/27 PARMs). Daytime NIV sessions (2–3 daily, 30–60 minutes each) were recommended and resulted in symptom improvement reported by parents (see table 1).Discussion Daytime hypoventilation is a recognised but under-characterised complication in CCHS. Incidence and clinical manifestations are poorly defined, and no international guidelines exist for screening. Our findings support structured assessment from early adolescence, incorporating daytime O2/CO2 monitoring and clinical evaluation, including symptom history. Larger cohort studies are essential to better define incidence, optimal screening strategies, and intervention thresholds for managing daytime hypoventilation in CCHS.Abstract P71 Table 1Clinical characteristics and results",
  "authors": [
    {
      "affiliations": [
        "Royal Brompton Hospital, London, United Kingdom"
      ],
      "name": "Kristien Vanhaverbeke"
    },
    {
      "affiliations": [
        "Royal Brompton Hospital, London, United Kingdom"
      ],
      "name": "Hannah Williams"
    },
    {
      "affiliations": [
        "Royal Brompton Hospital, London, United Kingdom"
      ],
      "name": "Anna Williams"
    },
    {
      "affiliations": [
        "Royal Brompton Hospital, London, United Kingdom"
      ],
      "name": "Laura Gardner"
    },
    {
      "affiliations": [
        "Royal Brompton Hospital, London, United Kingdom"
      ],
      "name": "Rishi Pabary"
    },
    {
      "affiliations": [
        "Royal Brompton Hospital, London, United Kingdom"
      ],
      "name": "Hui-Leng Tan"
    }
  ],
  "title": "P71 Daytime hypoventilation in congenital central hypoventilation syndrome: a case series",
  "uid": "f05edb58-6743-5d95-bafe-df0d744e71ff"
}