[P3-85] High prevalence of sleep apnea in children with aromatic L-amino acid decarboxylase deficiency
Background: Sleep disorders are common in children with aromatic L-amino acid decarboxylase (AADC) deficiency. In the present study, we investigate the prevalence of sleep-disordered breathing in children with AADC deficiency using overnight polysomnography and pulse oximetry.
Methods: Total 17 patients diagnosed to have AADC deficiency were enrolled in the present study. The clinical presentations, severity of neurological symptoms, and the data of overnight polysomnography and pulse oximetry were analyzed.
Results: Total 21 examinations from 17 patients were enrolled for analysis, including 13 from polysomnography and 8 from pulse oximetry. For overnight polysomnography, 11 (85%) of 13 examinations had AHI ≧1, compatible with the diagnosis of sleep apnea. AHI in five of 13 was ≧2. Eight (62%) of 13 patients had higher REM AHI compared with non-REM AHI. Both arousal index (1.6±1.7/h) and limb movement index (4.0±3.1/h) were less than normal children, indicating decreased motor activity in children with AADC deficiency. Using McGill oximetry scoring system, we found that 14 (67%) of 21 had oximetry score over 1, compatible with the diagnosis of sleep apnea. The average ODI was 10.3±28.2/h. Total 13 (62%) of 21 had ODI ≧2/h. However, the severity of sleep apnea correlated poor with the sleep symptoms reported from the family.
Conclusions: We found that there was high prevalence of sleep-disordered breathing in children with AADC deficiency, ranging from 67-85% depending on what criteria were used. Sleep-disordered breathing may be a major morbidity in children with AADC deficiency.
Methods: Total 17 patients diagnosed to have AADC deficiency were enrolled in the present study. The clinical presentations, severity of neurological symptoms, and the data of overnight polysomnography and pulse oximetry were analyzed.
Results: Total 21 examinations from 17 patients were enrolled for analysis, including 13 from polysomnography and 8 from pulse oximetry. For overnight polysomnography, 11 (85%) of 13 examinations had AHI ≧1, compatible with the diagnosis of sleep apnea. AHI in five of 13 was ≧2. Eight (62%) of 13 patients had higher REM AHI compared with non-REM AHI. Both arousal index (1.6±1.7/h) and limb movement index (4.0±3.1/h) were less than normal children, indicating decreased motor activity in children with AADC deficiency. Using McGill oximetry scoring system, we found that 14 (67%) of 21 had oximetry score over 1, compatible with the diagnosis of sleep apnea. The average ODI was 10.3±28.2/h. Total 13 (62%) of 21 had ODI ≧2/h. However, the severity of sleep apnea correlated poor with the sleep symptoms reported from the family.
Conclusions: We found that there was high prevalence of sleep-disordered breathing in children with AADC deficiency, ranging from 67-85% depending on what criteria were used. Sleep-disordered breathing may be a major morbidity in children with AADC deficiency.