Autism spectrum disorders (ASD) are lifelong heterogeneous set of neurodevelopmental conditions with strikingly profound male prevalence. Differences in sex biology and hormones are thought to play key roles in ASD prevalence and outcome, but the underlying molecular mechanisms responsible for ASD sex-differential risk are not well understood. Two recent studies reported a significant association between shortened telomere length (TL) and autistic children. However, the role of gender bias has been overlooked. Here, we carefully examined the status of average TL among non-syndromic male and female children with autism, and we also took a close look at the data from earlier reports. A total of 58 children were recruited for this project, including 24 apparently non-syndromic autistic children (14 males and 10 females), their healthy siblings (n = 10), and 24 sex-, age, and location-matched healthy controls. Relative TLs (RTL) were assessed by the monochrom multiplex quantitative polymerase chain reaction (MMQPCR) technique, using genomic DNA extracted from saliva samples. Data analysis showed that gender and age had strong impacts on average RTLs among the study groups. In a sex stratified manner, autistic male children had significantly shorter average RTL than their female counterparts. Only male children with autism showed a homogeneous pattern of shorter RTLs compared with their respective healthy controls. Our findings are indicative of a sexually dimorphic pattern of TL in childhood autism. The data presented here have important implications for the role of telomere biology in the molecular mechanisms responsible for ASD male bias prevalence and etiology.

中文翻译：

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儿童自闭症端粒长度的性别差异

自闭症谱系障碍（ASD）是一整套终生异质性神经发育疾病，男性发病率惊人。人们认为性生物学和激素的差异在ASD患病率和预后中起着关键作用，但导致ASD性别差异风险的潜在分子机制尚未得到很好的理解。最近的两项研究报道，端粒长度缩短（TL）与自闭症儿童之间存在显着关联。但是，性别偏见的作用已被忽视。在这里，我们仔细检查了非综合征自闭症男性和女性儿童的平均TL状况，并且还仔细研究了早期报道中的数据。该项目共招募了58名儿童，其中包括24名明显没有综合症的自闭症儿童（男14名，女10名），他们的健康兄弟姐妹（n = 10），以及24个性别，年龄和位置匹配的健康对照。使用从唾液样品中提取的基因组DNA，通过单色多重定量聚合酶链反应（MMQPCR）技术评估相对TL（RTL）。数据分析表明，性别和年龄对研究组中的平均RTL有很大影响。以性别分层的方式，自闭症男童的平均RTL明显比女童短。只有自闭症的男性儿童与其各自的健康对照者相比，表现出较短的RTL均质模式。我们的发现表明儿童自闭症中TL的性二态性。此处提供的数据对端粒生物学在导致ASD男性偏见患病率和病因的分子机制中的作用具有重要意义。