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Table 4 Main differences between the current guidelines and the 2010 ATS statement

From: Guidelines for diagnosis and management of congenital central hypoventilation syndrome

Issue Current Guidelines (2020) ATS Statement (2010)
Phenotype Disease may have varying respiratory impact, with predominance of other system dysfunction Hypoventilation with other autonomic disturbance
Cardiac issues All CCHS at risk for sinus arrest Longer PARMs at risk for sinus arrest
Targets for ventilatory support pCO2 35–45 mmHg
SpO2 ≥ 95%
Reasonably: Et CO2 30–50 mmHg
Ideally: PCO2 35–40 mmHg
SpO2 ≥ 95%
Ventilation support Use of new modalities, such as volume guaranteed to allow varying needs to be met with less swings in CO2 Largely non-varying tracheostomy / mask ventilation
Tracheostomy ventilation The commonest method of ventilation support in the first years of life Recommended in the first years of life
Airway assessment procedure Simple fibre-optic tracheoscopy preferred Bronchoscopy
Indications for Airway assessment procedure -If new symptoms
-After changing tube size or type
-Before decannulation
-Every 3–6 months in children in the first 2 years after tracheostomy
Every 12–24 months
Ventilatory Device -Home ventilators while on tracheostomy and mask ventilation:
-Home ventilators or bi-level devices with all safety requirements while on mask ventilation
-Home ventilators while on tracheostomy ventilation
-Bi-level devices on timed mode while on mask
Ventilation mode -Recommended: Pressure-control ventilation (e.g. pressure control on the ventilators, or timed mode on the bi-level devices)
-To be avoided: Pressure support mode with no ability to set back-up rate and minimum inspiratory time on spontaneous breaths, and CPAP mode.
-Recommended: Pressure control or pressure plateau mode via tracheostomy
-Bi-level positive airway pressure ventilation by mask or nasal prongs: timed mode
Non-invasive ventilation
(mask ventilation)
-May be considered in infants and young children with close monitoring
-The first option for older children and adults presenting with late-onset CCHS
-Not considered as an optimal mode of ventilation in infants and children
-Not considered until 6–8 yo at the earliest in stable patients on sleep time ventilation only
Prevention of mid-face hypoplasia (related to mask ventilation) -Use of total face masks
-Alternating masks of different shapes
Extreme caution recommended while used in young children
Mask models available Total face mask used to reduce pressure on facial structure or to prevent oral air leaks Full face mask discouraged because of discomfort and aspiration risks.
Age at transition from trach to mask ventilation Can be initiated at varying ages during childhood After 6 to 8 yo
Procedure for transition from trach to mask ventilation or phrenic nerve pacemaker -Tracheal fiberscope
-Downsize the tracheostomy cannula
-Sleep study while on mask ventilation or pacing with capped tracheostomy
Is PHOX2B the sole CCHS gene? -A few other genes, responsible for autosomal recessive hypoventilation, like MYO1H and LBX1, were identified in consanguineous families negative for PHOX2B mutations.
-CCHS is a genetically heterogeneous trait
Besides CCHS associated PHOX2B mutations, only patients carrying coincidental mutations in genes already involved in other neurocristopathies and/or in the development of Neural Crest derived cell lines were reported
Novel kind of CCHS associated PHOX2B anomalies Interstitial deletions of the PHOX2B found in association with atypical CCHS presentations, neonatal respiratory distress, Hirschsprung disease, BRUE, etc Unknown at that time
Mutation penetrance and expressivity For most PARMs and NPARMs, a wide variability in intra-familial mutation penetrance & expressivity is emerging. Reduced penetrance only reported for a few NPARMs and the shortest PARMs
Genotype – phenotype correlation Differences for NPARM have been recognized both within and between missense, nonsense, and frameshift mutations NPARM mutations did have roughly the same effect without distinguishing among them