Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome.
Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome.
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DOI：
10.1186/s13229-022-00533-2
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发表时间：
2022-12-24
期刊：
影响因子：
6.2
通讯作者：
中科院分区：
文献类型：
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作者：
1.6 Mb 3q 29缺失与神经发育和神经精神表型相关，包括自闭症谱系障碍（ASD）的风险增加19倍。我们团队先前的工作通过父母报告问卷确定了这一人群中的社会残疾程度。然而，ASD在这一人群中的临床特征尚未详细探讨。31例3q 29缺失综合征患者（3q 29 del，61.3%男性）采用两种金标准临床ASD评估进行评估：自闭症诊断观察表，第二版（ADOS-2）和自闭症诊断访谈，修订版（ADI-R）。从国家自闭症研究数据库中确定了每个受试者的四个匹配的比较者。比较3q 29 del受试者和匹配对照者的ADOS-2和ADI-R项目水平评分。在ADOS-2中，与典型发育（TD）比较受试者相比，3q 29 del和无ASD（3q 29 del-ASD）受试者具有更大的社会残疾证据。在ADOS-2上，患有3q 29 del和ASD（3q 29 del + ASD）的受试者与非综合征型ASD（nsASD）受试者在很大程度上无法区分。3q 29 del + ASD在ADI-R上的社交沟通表现明显优于nsASD（3q 29 + ASD平均值= 11.36; nsASD平均值= 15.70; p = 0.01），这是由非语言沟通缺陷减少驱动的（3q 29 + ASD平均值= 1.73; nsASD平均值= 3.63; p = 0.03）。与nsASD相比，3q 29 del + ASD在第一个两个词短语中报告的年龄显著更晚（3q 29 del + ASD平均值= 43.89个月; nsASD平均值= 37.86个月; p = 0.01）。然而，在3q 29 del + ASD中，言语延迟与非语言交流的改善无关。在NDAR中没有足够的TD对照药物（具有ADI-R数据）纳入本分析。此外，我们的样本量相对较小，难以评估种族和民族影响。3q 29 del与显著的社会残疾相关，无论ASD诊断如何。3q 29 del + ASD与nsASD具有相似的社会残疾水平，而3q 29 del-ASD与TD个体相比显著增加了社会残疾。然而，相对于nsASD，3q 29 del + ASD中的社会沟通得到了相当好的保留。至关重要的是，对这一人群的语言能力和社会残疾进行单独检查，以确保平等获得ASD和社会技能评估和服务。在线版本包含补充材料，可通过10.1186/s13229-022-00533-2获得。
The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail. Thirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R). Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators. Subjects with 3q29del and no ASD (3q29del-ASD) had greater evidence of social disability compared to typically developing (TD) comparison subjects across the ADOS-2. Subjects with 3q29del and ASD (3q29del + ASD) were largely indistinguishable from non-syndromic ASD (nsASD) subjects on the ADOS-2. 3q29del + ASD performed significantly better on social communication on the ADI-R than nsASD (3q29 + ASD mean = 11.36; nsASD mean = 15.70; p = 0.01), and this was driven by reduced deficits in nonverbal communication (3q29 + ASD mean = 1.73; nsASD mean = 3.63; p = 0.03). 3q29del + ASD reported significantly later age at the first two-word phrase compared to nsASD (3q29del + ASD mean = 43.89 months; nsASD mean = 37.86 months; p = 0.01). However, speech delay was not related to improved nonverbal communication in 3q29del + ASD. There were not enough TD comparators with ADI-R data in NDAR to include in the present analysis. Additionally, our relatively small sample size made it difficult to assess race and ethnicity effects. 3q29del is associated with significant social disability, irrespective of ASD diagnosis. 3q29del + ASD have similar levels of social disability to nsASD, while 3q29del-ASD have significantly increased social disability compared to TD individuals. However, social communication is reasonably well preserved in 3q29del + ASD relative to nsASD. It is critical that verbal ability and social disability be examined separately in this population to ensure equal access to ASD and social skills evaluations and services. The online version contains supplementary material available at 10.1186/s13229-022-00533-2.
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影响因子：
3.2
作者：
Jones, W;Bellugi, U;Adolphs, R
通讯作者：
Adolphs, R
DOI：
10.2511/027494813805327214
发表时间：
2012-12-01
影响因子：
2.5
作者：
Hughes, Carolyn;Kaplan, Lauren;Harvey, Michelle
通讯作者：
Harvey, Michelle
影响因子：
2
作者：
Citta, Santina;Buono, Serafino;Romano, Corrado
通讯作者：
Romano, Corrado
DOI：
10.1002/ajmg.b.32406
发表时间：
2016-03-01
影响因子：
2.8
作者：
Biamino, Elisa;Di Gregorio, Eleonora;Brusco, Alfredo
通讯作者：
Brusco, Alfredo
DOI：
10.1176/appi.ajp.2017.16101115
发表时间：
2017-06-01
期刊：
The American journal of psychiatry
影响因子：
--
作者：
Bishop SL;Farmer C;Bal V;Robinson EB;Willsey AJ;Werling DM;Havdahl KA;Sanders SJ;Thurm A
通讯作者：
Thurm A