Clinical Guidance

See .

Source: GeneReviews — "Congenital Central Hypoventilation Syndrome"

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

• Unexplained shallow breathing

• Generally adequate ventilation while awake and at rest, and apparent hypoventilation with monotonous respiratory rate and shallow breathing (diminished tidal volume) during sleep

OR

• Apparent hypoventilation both while awake and while asleep

Source: GeneReviews — "Congenital Central Hypoventilation Syndrome"

Differential Diagnosis

Neonatal-onset congenital central hypoventilation syndrome (CCHS). In addition to CCHS, the differential diagnosis in a newborn with hypoventilation alone includes:

• Primary neuromuscular, pulmonary, or cardiac disease or an identifiable brain stem lesion that could account for the full constellation of CCHS findings, including the autonomic nervous system dysregulation (ANSD) ;

• Hypoxic ischemic encephalopathy, asphyxia, infarction, infection;

• Severe prematurity .

Later-onset congenital central hypoventilation syndrome (LO-CCHS)

Source: GeneReviews — "Congenital Central Hypoventilation Syndrome"

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

Source: GeneReviews — "Congenital Central Hypoventilation Syndrome"

Clinical Guidance

Ideally, children with CCHS should not go swimming. If they do, they should be carefully supervised, regardless of the presence or absence of a tracheostomy. Children with CCHS should not compete in underwater swimming contests as they cannot perceive the asphyxia that occurs with drowning and breath-holding and, therefore, are likely to swim longer and farther than children without CCHS, thereby increasing the risk of drowning. Breath-holding contests may lead to asphyxia and/or death. Alcohol (respiratory depression), recreational drugs (varied effects), and prescribed as well as non-prescribed medications/sedatives/anesthetics that could induce respiratory depression should be avoided .

Source: GeneReviews — "Congenital Central Hypoventilation Syndrome"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Congenital Central Hypoventilation Syndrome"

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

• Evaluation of the awake and asleep responses to exogenous and endogenous challenges of hypercarbia and/or hypoxemia in varied age-appropriate activities of daily living

• Hemoglobin, hematocrit, and reticulocyte count to assess for polycythemia

• 72-hour Holter recording to assess for abrupt, prolonged asystoles

• Echocardiogram to assess for changes consistent with right ventricular hypertrophy and cor pulmonale

• Neurocognitive assessment/educational needs

• Comprehensive autonomic testing of all organ systems regulated by the autonomic nervous system, including but not limited to pupillometry, head up-tilt testing, thermoregulatory chamber sweat testing, Q-Sweat testing, heart rate deep breathing, Valsalva maneuver, and measures of cerebral regional blood flow and blood pressure in activities of daily living as well as orthostatic testing

Source: GeneReviews — "Congenital Central Hypoventilation Syndrome"