Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which evidence reveals oxidative stress and transsulfuration pathway abnormalities. Down syndrome (DS) is a genetic disorder characterized by similar oxidative stress and transsulfuration pathway abnormalities. This hypothesis‐testing longitudinal cohort study determined whether transsulfuration abnormalities and oxidative stress are important susceptibility factors in ASD etiology by evaluating the rate of ASD diagnoses in DS as compared to the general population. The Independent Healthcare Research Database was analyzed for healthcare records prospectively generated in Florida Medicaid. A cohort of 101,736 persons (born: 1990–1999) with ≥10 outpatient office visits and continuously followed for 120 months after birth was examined. There were 942 children in the DS cohort (ICD‐9 code: 758.0) and 100,749 children in the undiagnosed cohort (no DS diagnosis). ASD diagnoses were defined as autistic disorder (ICD‐9 code: 299.00) or Asperger's disorder/pervasive developmental disorder—not otherwise specified (ICD‐9 code: 299.80). ASDs were diagnosed in 5.31% of the DS cohort and 1.34% of the undiagnosed cohort. The risk ratio of being diagnosed with an ASD in the DS cohort as compared to the undiagnosed cohort was 3.97‐fold significantly increased with a risk difference of 3.97%. Among children diagnosed with DS, less than 6% were also diagnosed with an ASD. Among children diagnosed with an ASD, less than 5% were also diagnosed with DS. Children diagnosed with DS are apparently more susceptible to ASD diagnosis relative to the general population suggesting oxidative stress and transsulfuration pathway abnormalities are important susceptibility factors in ASD.

中文翻译：

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唐氏综合症作为评估氧化应激和转硫异常在自闭症谱系障碍中的作用的遗传模型：一项为期10年的纵向队列研究。

自闭症谱系障碍（ASD）是一种神经发育障碍，其中有证据显示氧化应激和转硫途径异常。唐氏综合症（DS）是一种遗传性疾病，其特征是类似的氧化应激和转硫途径异常。这项通过假设检验的纵向队列研究通过评估DS与一般人群的ASD诊断率，确定了转硫异常和氧化应激是否是ASD病因中的重要易感性因素。对独立医疗研究数据库进行了分析，以分析佛罗里达医疗补助计划中预期产生的医疗记录。研究对象为101736人（出生于1990-1999年），门诊≥10次，出生后连续随访120个月。DS队列中有942名儿童（ICD-9代码：758.0），未诊断队列中有100,749名儿童（无DS诊断）。ASD诊断的定义为自闭症（ICD-9代码：299.00）或阿斯伯格氏病/普适性发育障碍-另有规定（ICD-9代码：299.80）。在DS队列的5.31％和未诊断队列的1.34％中诊断出了ASD。与未经诊断的队列相比，在DS队列中被诊断为ASD的风险比显着增加了3.97倍，风险差异为3.97％。在被诊断为DS的儿童中，被诊断患有ASD的儿童还不到6％。在被诊断患有自闭症的儿童中，被诊断患有DS的儿童还不到5％。