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国家筛查计划能否降低自闭症谱系障碍的诊断年龄?

Could a National Screening Program Reduce the Age of Diagnosis of Autism Spectrum Disorder?

作者信息

Al-Mamari Watfa, Idris Ahmed B, Al Aamri Hafsa, Al Khatri Hanan, Al Sinani Aisha, Al Kharusi Rahil, Mirghani Mohammed, Al-Jabri Muna, Jalees Saquib, Al-Hadhrami Sumaiya, Islam M, Fombonne Eric

机构信息

Developmental Pediatric Unit, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.

College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

出版信息

J Autism Dev Disord. 2025 Feb 28. doi: 10.1007/s10803-025-06770-7.

DOI:10.1007/s10803-025-06770-7
PMID:40019620
Abstract

A systematic screening program for detecting autism at 18 months was progressively implemented in Oman since 2017. The primary objective of this study was to examine whether systematic use of M-CHAT-R/F screening is associated with lowering the age at ASD diagnosis, controlling for other predictors of age at ASD diagnosis. The study is based on a cross-sectional retrospective review of data extracted from electronic records of 756 children diagnosed with ASD between 1st January 2017 and 30th June 2023. Descriptive statistics and multiple linear regression models were used for data analysis. Of 756 children (mean age: 7.3 years, age range: 1.8-14 years; 77.5% males) included in this study, 98 (13%) underwent M-CHAT-R/F screening. The average age at ASD diagnosis was 60.7 months (95% CI: 58.8, 62.7 months). A significantly lower age at ASD diagnosis was observed among children who underwent M-CHAT-R/F screening compared to those who did not (39.4 vs. 63.8 months; p < 0.001). Multiple regression analysis indicates that children who were screened with M-CHAT-R/F received a diagnosis of ASD at an average age 20% earlier than children who were not screened with M-CHAT-R/F (adjOR = 0.80; 95% CI: 0.73, 0.88, p < 0.001). The population-based M-CHAT-R/F screening program appears to have reduced the average age of diagnosis of ASD among children. The findings may translate into earlier access to intervention and possibly improved long-term outcomes for children with ASD.

摘要

自2017年以来,阿曼逐步实施了一项针对18个月大儿童的自闭症系统筛查计划。本研究的主要目的是检验系统使用M-CHAT-R/F筛查是否与降低自闭症谱系障碍(ASD)诊断年龄相关,并控制ASD诊断年龄的其他预测因素。该研究基于对2017年1月1日至2023年6月30日期间诊断为ASD的756名儿童电子记录中提取的数据进行的横断面回顾性分析。描述性统计和多元线性回归模型用于数据分析。本研究纳入的756名儿童(平均年龄:7.3岁,年龄范围:1.8 - 14岁;77.5%为男性)中,98名(13%)接受了M-CHAT-R/F筛查。ASD诊断的平均年龄为60.7个月(95%置信区间:58.8,62.7个月)。与未接受M-CHAT-R/F筛查的儿童相比,接受该筛查的儿童ASD诊断年龄显著更低(39.4个月对63.8个月;p < 0.001)。多元回归分析表明,接受M-CHAT-R/F筛查的儿童被诊断为ASD的平均年龄比未接受该筛查的儿童早20%(调整后比值比 = 0.80;95%置信区间:0.73,0.88,p < 0.001)。基于人群的M-CHAT-R/F筛查计划似乎降低了儿童ASD诊断的平均年龄。这些发现可能转化为自闭症谱系障碍儿童更早获得干预,并可能改善其长期预后。

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本文引用的文献

1
Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.基因变异分析从阿曼104个家族的高度近亲队列中鉴定出新型自闭症风险候选基因。
Int J Mol Sci. 2024 Dec 21;25(24):13700. doi: 10.3390/ijms252413700.
2
Autism intervention meta-analysis of early childhood studies (Project AIM): updated systematic review and secondary analysis.自闭症儿童早期干预元分析研究(Project AIM):更新的系统评价和二次分析。
BMJ. 2023 Nov 14;383:e076733. doi: 10.1136/bmj-2023-076733.
3
The influence of loss to follow-up in autism screening research: Taking stock and moving forward.
自闭症筛查研究中失访的影响:总结与展望。
J Child Psychol Psychiatry. 2024 May;65(5):656-667. doi: 10.1111/jcpp.13867. Epub 2023 Jul 19.
4
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.在一个患有自闭症谱系障碍的近亲婚配人群中应用全外显子组测序。
Int J Dev Disabil. 2021 Jun 21;69(2):190-200. doi: 10.1080/20473869.2021.1937000. eCollection 2023.
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The time has come for living systematic reviews in autism research.开展自闭症研究系统综述的时机已经成熟。
Autism Res. 2022 Jul;15(7):1187-1188. doi: 10.1002/aur.2739. Epub 2022 May 15.
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Revisiting the Prevalence of Autism Spectrum Disorder among Omani Children: A multicentre study.重新审视阿曼儿童自闭症谱系障碍的患病率:一项多中心研究。
Sultan Qaboos Univ Med J. 2019 Nov;19(4):e305-e309. doi: 10.18295/squmj.2019.19.04.005. Epub 2019 Dec 22.
7
The association between socioeconomic status and autism diagnosis in the United Kingdom for children aged 5-8 years of age: Findings from the Born in Bradford cohort.英国 5-8 岁儿童的社会经济地位与自闭症诊断之间的关联:布拉德福德出生队列研究的结果。
Autism. 2019 Jan;23(1):131-140. doi: 10.1177/1362361317733182. Epub 2017 Nov 7.
8
Non-Communicable Diseases: Shining a Light on Cardiovascular Disease, Oman's Biggest Killer.非传染性疾病:聚焦心血管疾病,阿曼的头号杀手
Oman Med J. 2015 Jul;30(4):227-8. doi: 10.5001/omj.2015.47.
9
Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population.来自高度近亲婚配人群的自闭症谱系障碍患者队列中染色体微阵列分析的诊断率
J Autism Dev Disord. 2015 Aug;45(8):2323-8. doi: 10.1007/s10803-015-2394-9.
10
Explaining differences in age at autism spectrum disorder diagnosis: a critical review.解释自闭症谱系障碍诊断年龄的差异:一项批判性综述。
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