High prevalence of self-reported autism spectrum disorder in the Propionic Acidemia Registry.
High prevalence of self-reported autism spectrum disorder in the Propionic Acidemia Registry.
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DOI：
10.1002/jmd2.12083
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发表时间：
2020-01-01
期刊：
影响因子：
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通讯作者：
Schneider, Patricia
中科院分区：
文献类型：
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作者：
Cotrina, Maria L;Ferreiras, Sindy;Schneider, Patricia
丙酸血症（PA）的特点是丙酸（PPA）、其有毒衍生物和氨的积累。该疾病会导致多器官损伤，尤其是心脏、胰腺和大脑；经常描述癫痫发作和智力障碍。一些 PA 儿童还表现出自闭症谱系障碍 (ASD)。在这项研究中，我们收集了丙酸血症国际患者登记处 62 名个体的数据，并将其与已发表的有关 PA 中自闭症患病率的文献进行了比较。 PA 登记显示很大一部分 ASD 诊断与文献报道的综合患病率一致。它还表明，PA 中的 ASD 是性别平衡的，并且诊断年龄（中位年龄 8 岁）高于国家自闭症登记处（中位年龄 4.3 岁），这增加了 PA 特定风险因素影响 ASD 自然史的可能性。来自患者登记处的数据为研究罕见疾病所涉及的机制提供了有价值的信息，尽管必须做出更多的外展工作来提高数据输入的参与度和一致性。
Propionic Acidemia (PA) is characterized by the accumulation of propionic acid (PPA), its toxic derivatives, and ammonia. The disease causes multiorgan damage, especially in heart, pancreas, and brain; seizures and intellectual disability are often described. Some PA children also show autism spectrum disorders (ASD). In this study, we have compiled data from 62 individuals from the Propionic Acidemia International Patient Registry and compared it to the published literature on the prevalence of autism in PA. The PA registry shows a significant proportion of ASD diagnoses that is consistent with the combined prevalence reported in the literature. It also shows that ASD in PA is gender balanced and it is diagnosed at older ages (median age 8years) than in the national registry for autism (median age 4.3years), which raises the possibility, among others, of PA specific risk factors affecting the natural history of ASD. Data from patient registries provide valuable information on studying the mechanisms involved in a rare disease, although more outreach effort must be done to increase participation and consistency in data entry.