Assessment of children in the autistic spectrum disorder that carry the Thr92Ala-DIO2 polymorphism.
Assessment of children in the autistic spectrum disorder that carry the Thr92Ala-DIO2 polymorphism.
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DOI：
10.1007/s40618-020-01497-x
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发表时间：
2021-08
影响因子：
5.4
通讯作者：
Ribeiro MO
中科院分区：
文献类型：
--
作者：
E Marcondes AA;Gomez TGB;Ravache TT;Batistuzzo A;Lorena FB;de Paula CS;Lowenthal R;Bianco AC;Ribeiro MO
2型脱碘酶（Thr 92 Ala-DIO 2）基因的多态性与中枢神经系统的行为和认知功能障碍以及神经变性和氧化应激相关。测试自闭症谱系障碍（ASD）儿童的次要等位基因（Ala 92）频率（MAF）是否增加，以及次要等位基因携带者是否表现出更严重的症状和/或更差的适应行为。在整个研究期间，心理学家使用以下工具在基线和每年对ASD儿童进行评估：自闭症行为检查表，Vineland适应行为量表II，非语言智力测试SON-R 21/2-7，SON-R 6-40，Weschler智力量表和自闭症治疗评估检查表。学术门诊心理健康设施在圣保罗，巴西。ASD男孩和女孩年龄小于18岁。132名连续ASD儿童，大多数是男孩（约80%）;约50%被归类为言语型。排除标准是感觉和/或身体损害共存，或任何相关的遗传综合征。中位随访时间为937天（139-1375天），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为51%;临床严重程度和进展不受次要等位基因的影响。次要等位基因的携带者在“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正相关。ASD儿童的MAF没有差异，但Thr 92 Ala-DIO 2多态性携带者表现出更高的适应行为。
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 21/2–7, 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.
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影响因子：
5.2
作者：
Gadow, KD;Devincent, CJ;Azizian, A
通讯作者：
Azizian, A
影响因子：
2.8
作者：
Maharjan, Surendra;Liao, Kang-Shyang;Curran, Seamus A.
通讯作者：
Curran, Seamus A.
DOI：
10.15585/mmwr.ss6706a1
发表时间：
2018-04-27
期刊：
Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002)
影响因子：
--
作者：
Baio J;Wiggins L;Christensen DL;Maenner MJ;Daniels J;Warren Z;Kurzius-Spencer M;Zahorodny W;Robinson Rosenberg C;White T;Durkin MS;Imm P;Nikolaou L;Yeargin-Allsopp M;Lee LC;Harrington R;Lopez M;Fitzgerald RT;Hewitt A;Pettygrove S;Constantino JN;Vehorn A;Shenouda J;Hall-Lande J;Van Naarden Braun K;Dowling NF
通讯作者：
Dowling NF
影响因子：
15.9
作者：
Jo, Sungro;Fonseca, Tatiana L.;Bianco, Antonio C.
通讯作者：
Bianco, Antonio C.
影响因子：
--
作者：
Marteleto, Márcia Regina Fumagalli;Pedromônico, Márcia Regina Marcondes
通讯作者：
Pedromônico, Márcia Regina Marcondes