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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

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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