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Table 2 Follow up programme

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
  1. Abbreviations: BPAM blood pressure ambulatory monitoring; CRP cardio-respiratory polysomnography; ECG electrocardiogram; Et-CO2 end-tidal CO2; KUB kidney, ureter and bladder X-ray; NPARM non-PARM; OGTT oral glucose tolerance test; PARM polyalanine repeat mutation; PSG polysomnography; Tc, transcutaneous