Developmental Disorders Program, CCBS, Center of Biological Science and Health, Mackenzie Presbyterian University, Rua da Consolação, 930 Bld. #28, São Paulo, SP, 01302-907, Brazil.
Federal University of Sao Paulo, São Paulo, Brazil.
J Endocrinol Invest. 2021 Aug;44(8):1775-1782. doi: 10.1007/s40618-020-01497-x. Epub 2021 Jan 15.
A polymorphism in the type 2 deiodinase (Thr92Ala-DIO2) gene has been associated with behavioral and cognitive dysfunction as well as neurodegeneration and oxidative stress in the central nervous system.
To test whether the minor allele (Ala92) frequency (MAF) is increased in children in the autism spectrum disorder (ASD), and whether carriers of the minor allele exhibit more severe symptoms and/or worse adaptive behavior.
ASD children were evaluated at baseline and yearly throughout the study by psychologists using the following tools: autism behavior checklist, Vineland Adaptative Behaviour Scales II, non-verbal intelligence test SON-R 2-7, SON-R 6-40, Weschler scale for intelligence, and autism treatment evaluation checklist.
Academic outpatient mental health facility in Sao Paulo, Brazil.
ASD boys and girls younger than 18 years of age. 132 consecutive ASD children, mostly boys (~ 80%); ~ 50% was classified as verbal. Exclusion criteria were coexistence of sensory and/or physical impairment, or any associated genetic syndromes.
Median follow-up was for an uninterrupted period of 937 days (139-1375 days), which did not vary significantly among the genotypes. The MAF was 47% in ASD patients vs. 51% in a local reference population with similar ethnic background; the clinical severity and progression were not affected by the minor allele. Carriers of the minor allele exhibited higher adaptive behavior in the domains "daily living skills" and "communication", which correlated positively with the dose of the minor allele.
The MAF is not different in ASD children, but carriers of the Thr92Ala-DIO2 polymorphism exhibited higher adaptive behavior.
2 型脱碘酶（Thr92Ala-DIO2）基因的多态性与行为和认知功能障碍以及中枢神经系统的神经退行性变和氧化应激有关。
检测自闭症谱系障碍（ASD）儿童中次要等位基因（Ala92）的频率（MAF）是否增加，以及携带该次要等位基因的个体是否表现出更严重的症状和/或更差的适应行为。
通过心理学家使用以下工具，在基线和整个研究过程中对 ASD 儿童进行评估：自闭症行为检查表、维兰纳适应性行为量表 II、非言语智力测验 SON-R 2-7、SON-R 6-40、威斯勒智力测验和自闭症治疗评估检查表。
巴西圣保罗的学术门诊心理健康机构。
年龄小于 18 岁的 ASD 男孩和女孩。132 名连续 ASD 儿童，大多数为男孩（80%）；50%被归类为言语。排除标准是同时存在感官和/或身体障碍，或任何相关的遗传综合征。
中位随访时间为 937 天（139-1375 天），在不同基因型之间没有显著差异。ASD 患者的 MAF 为 47%，而具有相似种族背景的当地参考人群的 MAF 为 51%；次要等位基因并未影响临床严重程度和进展。携带次要等位基因的个体在“日常生活技能”和“沟通”领域表现出更高的适应行为，这与次要等位基因的剂量呈正相关。
ASD 儿童的 MAF 没有差异，但携带 Thr92Ala-DIO2 多态性的个体表现出更高的适应行为。
