eMedicine Specialties > Pediatrics: General Medicine > Pulmonology

Congenital Central Hypoventilation Syndrome: Treatment & Medication

Author: Terry Chin, MD, PhD, Associate Professor of Pediatrics, Pediatric Allergy/Immunology/Pulmonology, Department of Pediatrics, University of California Irvine School of Medicine; Associate Director, Miller Children's Hospital at Long Beach Memorial Medical Center
Coauthor(s): Cyrus M Shahriary, MD, Fellow, Pediatric Pulmonology, University of California at Irvine, Miller Children's Hospital; David Gozal, MD, Vice-Chairman of Research and Director, Kosair Children's Hospital Comprehensive Sleep Medicine Center, Professor, Department of Pediatrics, University of Louisville
Contributor Information and Disclosures

Updated: Dec 19, 2008

Treatment

Medical Care

Congenital central hypoventilation syndrome (CCHS) is a lifelong condition. A multidisciplinary approach to provide for comprehensive care and support of every child is needed.

• General measures
  • Infants with congenital central hypoventilation syndrome may have significant hypotonia and temporary feeding difficulties. In addition, moderate-to-severe gastroesophageal reflux is frequently present. Initiate early administration of prokinetic agents and antireflux medications in patients with hypotonia, temporary feeding difficulties, and gastroesophageal reflux; furthermore, begin nasogastric feeding to provide adequate nutrition. More radical approaches (eg, percutaneous gastrostomy tube feeding insertion, antireflux surgical procedures, or both) may be necessary if these problems are severe or persistent.
  • For patients with Hirschsprung disease, surgical intervention and, sometimes, colostomy to relieve the distal intestinal obstruction may be required. Although little attention has been given to the visual system of children with congenital central hypoventilation syndrome, ophthalmoplegia, and other ocular anomalies have long been recognized to be occasionally present; therefore, a thorough and periodic (ie, every year) ophthalmologic evaluation is necessary.
• Respiratory stimulants: Attempts to enhance the respiratory stability and promote eucapnia in patients with congenital central hypoventilation syndrome failed when pharmacologic approaches were used. Trials with doxapram in 2 infants and with the carotid body stimulant almitrine bismesylate in 13 patients did not show consistent improvements in spontaneous ventilatory or gas-exchange parameters. Therefore, respiratory stimulants have no current role in the treatment of congenital central hypoventilation syndrome.
• Invasive mechanical ventilatory support
  • To date, most centers that provide long-term home care for children with congenital central hypoventilation syndrome use positive-pressure ventilation through a permanent tracheotomy. The types of positive-pressure ventilators used in the home vary among centers and have gradually evolved, reflecting the dynamic needs of the population of patients with congenital central hypoventilation syndrome and the technical developments in the field.
  • Ventilators should be used in the spontaneous intermittent mandatory ventilation (SIMV) mode. Because an uncuffed tracheostomy should be used to minimize granuloma formation, ventilator settings should compensate for air leaks around the tracheotomy tube by increasing volume and peak airway pressure as necessary.
  • Pressure plateau ventilation is suggested to be a useful alternative in home mechanical ventilation of children with congenital central hypoventilation syndrome who are not receiving adequate ventilation with standard volume ventilation using demand compressor ventilators. The pressure-limited plateau ventilatory technique uses a volume ventilator but in a pressure-limit assist/control mode. Therefore, large volumes can be dialed as tidal volume into the ventilator. Because pressure is limited, the excess volume, which was not used to achieve the pressure plateau with each breath, is discarded via the pressure relief valve. This approach allows for breath-by-breath compensation of variable leaks. Pressure plateau ventilation is particularly useful in young patients and obviates the need for cuffed tubes or the use of ventilators that require continuous gas flow.
  • The recent availability of continuous-delivery compressors in home ventilators now permits domiciliary and ambulatory administration of ventilator modes traditionally reserved for intensive care units. Mildly hyperventilating patients with CCHS during their sleep to achieve PCO₂ near 30-35 mm Hg is recommended. Mild nighttime hyperventilation results in better daytime spontaneous ventilation and gas exchange ("sprinting").
• Noninvasive ventilatory support
  • Experience with negative-pressure ventilation (NPV) in patients with congenital central hypoventilation syndrome has been favorable; however, it is restricted to only a few centers in the United States and the world. This ventilatory modality is cumbersome and requires significant equipment adjustments over time. In addition, noninvasive ventilatory support may be associated with upper airway obstruction during sleep in younger children with congenital central hypoventilation syndrome, most probably elicited by absent pharyngeal dilator activation during non-centrally mediated inspiration. Also, NPV relies on the ability of chest wall movement. Hence patients with chest wall deformity may not be good candidates for NPV.
  • More recently, transition from invasive mechanical ventilation to nasal mask ventilation has been reported in patients with congenital central hypoventilation syndrome who are older than 7-8 years and who were nocturnally dependent on the ventilator. One study showed that mask ventilation can be safely commenced at an early age in children affected with congenital central hypoventilation syndrome. It is not only effective but is the preferred mode of ventilatory support by parents and patients, and even children who are established on other modes of ventilatory support can also be successfully weaned on to mask ventilation within a short period.¹²
  • Mask desensitization is important for compliance with bilevel positive airway pressure (BiPAP) use, especially in younger patients. However, BiPAP use 24 h/d disrupts daily activities and social interaction and may cause mid-face hypoplasia.
• Diaphragm pacing
  • Daytime diaphragm pacing in children with congenital central hypoventilation syndrome provides greater mobility than mechanical ventilation.¹³ Thus, candidates for diaphragm pacing are potentially ambulatory patients who require ventilatory support 24 h/d via tracheotomy and who do not exhibit significant ventilator-related lung damage. Diaphragm pacer settings must provide adequate alveolar ventilation and oxygenation during rest and daily activities.
  • Aside from cost, potential discomfort may be associated with surgical implantation and possible need for surgical revisions because of pacer malfunction. Diaphragm pacing requires increased level of fitness of the diaphragm. This is achieved by gradually increasing the length of time the child is paced. Most children can tolerate approximately 12-14 hours of pacing per day. Despite these limitations, most parental reports regarding diaphragm pacing are favorable. Development of a quadripolar electrode offers several advantages that primarily include greater durations of diaphragmatic pacer support at diminished risk of phrenic nerve damage, decreased diaphragmatic fatigue, and optimization of pacing requirements during exercise. Therefore, as equipment improves, the need to replace components is lessened.¹⁴
  • Deciding on the most appropriate type of ventilatory support requires referral to specialized centers with personnel experienced in diaphragm pacing.

Surgical Care

Surgical interventions include traditional procedures.

• Tracheotomy may be indicated for ventilatory support.
• Colostomy is sometimes required when Hirschsprung disease is present.
• When feeding problems arise, particularly during infancy, gastrostomy tube placement with or without antireflux procedures may be required.
• Usual postoperative follow-up care for these procedures is necessary but does not differ from the care needed by any other patient.

Consultations

The diagnostic evaluation of patients with congenital central hypoventilation syndrome requires a multidisciplinary approach involving many specialists.

• Neurologist: Consultation with a pediatric neurologist is recommended in the evaluation of hypotonia or or seizure activity (seizures can occur in some children with congenital central hypoventilation syndrome spontaneously or as a result of acute hypoxia). Nerve conduction studies, electromyography (EMG), muscle biopsy, auditory-evoked potentials, EEG, and imaging studies of the CNS may be necessary.
• Cardiologist: Evaluation by a cardiologist is suggested to exclude any cardiac involvement.
• Gastroenterologist: Evaluation by a gastroenterologist is suggested to rule out bowel hypomotility, to evaluate for gastroesophageal reflux, and to assist in management of Hirschsprung disease.
• Ear, nose, and throat (ENT) specialist: Evaluation by an otolaryngologist is suggested for tracheostomy evaluation, surgery, and regular postoperative and long-term care.
• Social worker, speech therapist, respiratory therapist, and other health care specialists: Evaluation by these specialists is suggested to provide multidisciplinary care and follow-up.
• Child behavior specialist: Periodic developmental assessment by a child behavior specialist is suggested.

Activity

Children with congenital central hypoventilation syndrome can lead active lives and are not restricted from any of the usual activities engaged by healthy children. In water activities, such as swimming, special protective devices are required for the tracheostomy tube to prevent aspiration. Nevertheless, many children with congenital central hypoventilation syndrome participate in aquatic activities without any identifiable adverse consequence. Patients require close supervision by the parents or caretakers while swimming or while playing in swimming pools or similar situations. This is because these children do not sense air hunger while diving and can therefore become severely hypoxic underwater and lose consciousness.

Medication

As noted in Treatment, the use of medications is restricted to the treatment of associated diseases rather than the primary disorder, which requires some sort of ventilatory support. These patients frequently have problems with gastroesophageal reflux.

Prokinetic agents

These agents are useful in the management of gastroesophageal reflux, which is a frequent manifestation in patients with congenital central hypoventilation syndrome (CCHS), particularly during their younger years.

Metoclopramide (Reglan, Clopra, Maxolon)

Improves GI motility by releasing acetylcholine from myenteric plexus resulting in contraction of the smooth muscle. Available in 5-mg and 10-mg tabs, 5 mg/mL syrup, and 5 mg/mL injection. Administer 30 min ac.

Cisapride (Propulsid)

Indirectly improves GI motility by promoting acetylcholine release from postganglionic nerve endings in the myenteric plexus. Accelerates gastric emptying and enhances LES tone.
Withdrawn from US market on July 14, 2000. Manufacturer may make available to certain patients who meet clinical eligibility criteria for limited-access protocol only.
Available in 10-mg and 20-mg tabs and an oral susp (1 mg/mL).

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