Clinical Guidance

Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with a hallmark of disordered respiratory control . Classic CCHS is characterized by adequate ventilation when the individual is awake and apparent hypoventilation with monotonous respiratory rates and shallow breathing (diminished tidal volume) when asleep. More severely affected individuals hypoventilate both when awake and when asleep. Children who hypoventilate both when awake and when asleep typically present in the neonatal period (i.e., first 30 days of life), as do the vast majority of children who hypoventilate only when asleep. Table 2. Select Features of Congenital Central Hypoventilation Syndrome by PARM vs NPARM and PARM Genotype Feature | Genotype PARM genotype | NPARMs

Clinical Guidance

See .

Source:

Diagnostic Criteria

The 2010 American Thoracic Society Statement on congenital central hypoventilation syndrome (CCHS) presents the current consensus clinical diagnostic criteria for CCHS (neonatal-onset and LO-CCHS [later-onset CCHS]) (full text). A version for affected individuals and their families is also available (full text).

Suggestive Findings

CCHS should be suspected in newborns, children, or adults with the following clinical findings and family history.

Neonatal-onset CCHS (first 30 days of life) clinical findings

Management Guidelines

Clinical practice guidelines for congenital central hypoventilation syndrome (CCHS) have been published in the ATS Statement on CCHS (full text). (full text) also provides management information. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with CCHS, the evaluations by phenotype summarized (if not performed as part of the evaluation that led to the diagnosis) and text that follows are recommended to be performed every six months until age three years, then annually thereafter at a minimum. Table 4. Congenital Central Hypoventilation Syndrome: Recommended Evaluations by Genotype Following Initial Diagnosis

Surveillance Guidelines

Every six months for the first three years, then annually thereafter, assessment of the following in a pediatric respiratory physiology laboratory experienced in the diagnosis and care of individuals with CCHS is recommended:

• Clinical study of spontaneous breathing awake and asleep including (at a minimum) tidal volume, respiratory inductance plethysmography of the chest and abdomen, hemoglobin saturation with pulse waveform, end-tidal carbon dioxide level with visible waveform, blood pressure, cerebral regional blood flow/oxygenation, and electrocardiogram, and appropriate sleep state staging measures