背景:1.6Mb3q29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家长报告问卷确定了该人群中社会残疾的增加。然而,尚未详细研究该人群中ASD的临床特征.
方法:31例3q29缺失综合征患者(3q29del,61.3%男性)使用两个金标准临床ASD评估进行评估:自闭症诊断观察时间表,第二版(ADOS-2),和自闭症诊断访谈,修改(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比较器。在具有3q29del和匹配的比较器的受试者之间比较ADOS-2和ADI-R的项目级得分。
结果:与ADOS-2中的典型发展(TD)比较受试者相比,具有3q29del和无ASD(3q29del-ASD)的受试者具有更大的社会残疾证据。在ADOS-2上,3q29del和ASD(3q29delASD)的受试者与非综合征ASD(nsASD)的受试者在很大程度上没有区别。3q29delASD在ADI-R的社交交流上的表现明显优于nsASD(3q29ASD平均值=11.36;nsASD平均值=15.70;p=0.01),这是由非语言交流中的缺陷减少驱动的(3q29+ASD均值=1.73;nsASD均值=3.63;p=0.03)。与nsASD相比,3q29delASD报告的前两个单词短语的年龄明显晚(3q29delASD平均值=43.89个月;nsASD平均值=37.86个月;p=0.01)。然而,在3q29delASD中,言语延迟与改善非语言交流无关。
结论:在本分析中,没有足够的TD比较器与NDAR中的ADI-R数据。此外,我们的样本量相对较小,因此难以评估种族和族裔效应.
结论:3q29del与显著的社会残疾有关,与ASD诊断无关。3q29del+ASD与nsASD的社会残疾水平相似,而与TD个体相比,3q29del-ASD的社会残疾显著增加。然而,相对于nsASD,3q29del+ASD中的社会交往得到了相当好的保存。至关重要的是,要在该人群中分别检查言语能力和社会残疾,以确保平等获得ASD和社会技能评估和服务。
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.