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Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder. Technical Brief Number 23.

机译：发育障碍，智力残疾和自闭症谱系障碍的基因检测。技术摘要第23号。

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摘要

This Technical Brief collects and summarizes information on genetic tests clinically available in the United States to detect genetic markers that predispose to DDs. It also identifies, but does not systematically review, existing evidence addressing the tests’ clinical utility. This Brief primarily focuses on patients with idiopathic or unexplained DDs, particularly intellectual disability, global developmental delay, and autism spectrum disorder.

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年度 2015
页码 1-531
总页数 531
原文格式 PDF
正文语种 eng
中图分类工业技术;
关键词
Developmental disabilities; Genetics; Testing; Autism; Genetic testing; Genetic markers; Intellectual disabilities; Patients; Developmental delays; Syndromes; Autism Spectrum Disorder (ASD);

机译：发育障碍;遗传学;检测;自闭症;基因检测;遗传标记;智力残疾;患者;发育迟缓;综合征;自闭症谱系障碍（asD）;

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专利

1. Low Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders: [J] . John Peabody, Lisa DeMaria, Diana Tamandong-LaChica, Global Pediatric Health . 2015,第7期

机译：发育迟缓，智力障碍和自闭症谱系障碍儿童的基因检测率低：
2. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? [J] . Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, Genetics in medicine . 2017,第12期

机译：是时候将脆弱的X测试作为发育延迟，智力残疾和自闭症谱系障碍的第一层测试时间了吗？
3. Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies [J] . Sun Ho Lee, Wung Joo Song Genomics & Informatics . 2017,第3期

机译：在42例原因不明的发育迟缓，智力障碍，自闭症谱系障碍和多发性先天性异常的韩国患者中进行染色体微阵列检测
4. The Use of Lotto Baca in Improving Speech for Children with Intellectual Disability: Single Subject Research Study in Children with Intellectual Disability in Pandita Kindergarten Serang City [C] . Silvi Sundari, Febriani Agung, Wilda Famy, International Conference on Special Education . 2019

机译：乐透培根在提高智力残疾儿童演讲中的使用：帕尔塔幼儿园智能城智力患儿的单一主题研究研究
5. Autosomal Recessive Variants in Intellectual Disability and Autism Spectrum Disorder [D] . Harripaul, Ricardo Simeon. 2021

机译：智能疾病和自闭症谱系血型术中的常染色体隐性变体
6. Low Rates of Genetic Testing in Children With Developmental Delays Intellectual Disability and Autism Spectrum Disorders [O] . John Peabody, Lisa DeMaria, Diana Tamandong-LaChica, 2015

机译：发育迟缓智力障碍和自闭症谱系障碍儿童的基因检测率低
7. Low Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders [O] . John Peabody MD, PhD, Lisa DeMaria MA, Diana Tamandong-LaChica MD, 2015

机译：发育迟缓，智力残疾和自闭症谱系障碍儿童的基因检测率低
8. Prevalence of Autism Spectrum Disorders: Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008. Morbidity and Mortality Surveillance Summaries, Vol. 61, No. 3. [R] . 2012

机译：自闭症谱系障碍的患病率：自闭症和发育障碍监测网络，14个站点，美国，2008年。发病率和死亡率监测摘要，卷。 61号，3号。

Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder. Technical Brief Number 23.

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