From: Guidelines for diagnosis and management of congenital central hypoventilation syndrome
Functions | Subjects | Frequency | Test | Objective of testing |
---|---|---|---|---|
Spontaneous and assisted ventilation | All patients | < 2yo: every 2–6 months ≥2yo: annually As often as needed if symptoms | -Wakefulness: SpO2, Tc or Et-CO2 -PSG or CRP with SpO2, Tc or Et-CO2 | -Assess spontaneous breathing while awake -Adjust ventilator settings during sleep |
Tracheostomy | With tracheostomy | -If symptoms (desaturation, pain, bleeding, breath holding spells, recurrent infections, intolerance to speaking valve or plugged tracheostomy, change in voice) -After changing the tube size or type -Before decannulation -Every 3–6 months in children in the first 2 years after tracheostomy | -Tracheo-bronchoscopy -Simple fibre-optic tracheoscopy | -Detect tracheostomy-related complications -Check the position of the tube tip (simple fibre-optic tracheoscopy instead of bronchoscopy) |
Maxillo-facial growth | With mask ventilation | -Every 4–6 months -Annually for older patients | -Examination by maxillo-facial specialist -Imaging if needed | -Detect midface deformation |
Cardiovascular system | All patients | Annually, and as often as needed if symptoms | −48-72 h ECG Holter -24 h BPAM -Echocardiogram | -Detect arrhythmias -Detect complications of ineffective ventilation |
Response to physical exertion | >6yo | Annually to every 2–3 years (in patients breathing spontaneously while awake) | Exercise test with bike or treadmill | Verify response of SpO2/ CO2 to physical effort |
Digestive system | All patients | Each visit | Symptoms, physical examination anthropometry, | Detect Hirschsprung, oesophageal and large bowel dysmotility |
Eyes | All patients | <6yo: Annually >6yo: According to ophthalmologist | Comprehensive ocular testing | -Detect visual disorders -Adapt glass or lens correction |
Neurological development | All patients | < 2-3yo: Every 4–6 months >6yo: Every 2 years As often as needed if disorders | Comprehensive neurocognitive tests | -Detect neurocognitive disorders -Assess education needs |
Endocrinology and Metabolism | All patients | Once, then as needed | - 24 h glycaemia -OGTT | Identify risk of hypo or hyperglycaemia |
Neural crests tumours | −20/28–20/33 PARMs -NPARMs | <2yo: Every 6 months 2-7yo: Annually or bi-annually >7yo: according to local oncologist protocols | -Chest and abdominal imaging, KUB ultrasound -Total body MRI if needed | Detect neural crests tumours |
Autonomic dysregulation | >6yo | If symptoms | Testing: tilt testing, deep breathing, Valsalva maneuver, thermal stressors | Assess autonomic dysregulation |