PP05.14 – 3044: The use of acetazolamide for severe central apnea in developmental disorders

• Published in: European journal of paediatric neurology 2015-05, Vol.19, p.S50-S50
• Main Authors: Hagebeuk, E.E.O, van den Bossche, R, Gutter, T, de Weerd, A.W
• Format: Article
• Language: English
• Subjects: Neurology; Pediatrics
• ISSN: 1090-3798; 1532-2130
• DOI: 10.1016/S1090-3798(15)30163-X

Objective Breathing disturbances like central apnea, episodic hyperventilation, air swallowing and Valsalva manoeuvres, have a large impact on the quality of life of children. In for instance Rett syndrome, which is characterized by loss of purposeful hand skills, motor and communication functions, cognitive impairment and the development of stereotypic hand function and seizures, they occur mainly when the girl is awake. These breathing disturbances can be severe and life threatening. In Prader-Willi syndrome, a genetic disorder characterized by severe hypotonia, cognitive and behavioral disturbances, the breathing disturbances are sleep related and includes obstructive and central sleep apnea. There's no proven treatment. Acetozolamide, a carbon dioxide hydrase inhibitor changes the Co2 and PH shift in the breathing center, and because of this increases depth of breathing. In adult patients, neonates and Pitt Hopkins syndrome, Acetozolamide has proven to decrease the central apnea's. Side effects like hyponatraemia and metabolic acidosis are rare. The aim of study is to evaluate the effect of Acetozolamide on central apnea's in patients with Rett syndrome, Prader-Willi syndrome and other developmental disorders. Methods All patients experienced extended polysomnographic recording, combined with video-electroencephalography at inclusion and after treatment. Laboratory investigation was performed. Seizure frequency calendars were used if available. Acetozolamide was started if central apnea's were present >3 and lasted for >20 seconds or 2 missed breaths with desaturation. Results All patients experienced severe breathing disturbances. Hyperventilation followed by central apnea's, or sleep related central apnea, with decline of SaO2, were most frequent. Acetozolamide reduced the apnea's and SaO2 declines, substantial. No side effect were reported. Most parents reported less daytime drowsiness, increased alertness and less breathing irregularities. Conclusion Acetozolamide was effective in substantial reducing the central apnea's and SaO2 declines in patients with various developmental disorders.