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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