Medical and psychosocial outcome of children with congenital central hypoventilation syndrome.

We report the long-term medical and psychosocial outcome of 13 children with congenital central hypoventilation syndrome. One child (8%) died before initial hospital discharge. Of the remaining 12 children, 11 (92%) have been successfully cared for in their natural or foster parents' homes. Home ventilatory support was provided with positive-pressure ventilation, negative-pressure ventilation, or diaphragm pacers. After an initial lengthy hospitalization, children spent little time in the hospital. Severe medical complications were uncommon but included cor pulmonale (one child), poor growth (two children), and seizure disorder (three children). Most children functioned in the slow-learner range of mental processing, with a composite score (Kaufman Assessment Battery for Children) of 78 +/- 20 (SD); two were mentally retarded, and one functioned above the normal range. The children's care givers were assessed as having low levels of psychologic distress (Symptom Checklist 90--Revised) and good coping resources (Coping Resources Inventory) but a high level of marital discord. The children were able to attend school and partake in normal childhood activities. We conclude that with modern techniques for home ventilation, children with CCHS can have a good long-term medical and psychosocial outcome. We speculate that early diagnosis and the prevention of intermittent hypoxia will improve their physical and mental outcome.