孤独症谱系障碍婴儿期超早筛查和干预的研究进展

doi:10.3969/j.issn.1674-8115.2025.02.011

上海交通大学学报（医学版） ›› 2025, Vol. 45 ›› Issue (2): 222-227.doi: 10.3969/j.issn.1674-8115.2025.02.011

• 综述 • 上一篇

孤独症谱系障碍婴儿期超早筛查和干预的研究进展

曹思瑶¹(), 刘洁琼¹, 王广帅², 王广海¹^,³^,⁴()

^1.上海交通大学医学院附属上海儿童医学中心儿科转化医学研究所，上海 201200
^2.华中师范大学人工智能教育学部，教育大数据应用技术国家工程研究中心，武汉 430079
^3.上海脑科学与类脑研究中心，上海 201602
^4.上海交通大学医学院附属新华医院教育部和上海市环境与儿童健康重点实验室，上海 200092

收稿日期:2024-05-20 接受日期:2024-10-08 出版日期:2025-02-28 发布日期:2025-02-28
通讯作者: 王广海 E-mail:caosiy0@163.com;wang-guanghai@163.com
作者简介:曹思瑶（1995—），女，硕士生；电子信箱：caosiy0@163.com。
基金资助:
国家科技创新2030—“脑科学与类脑研究”重大项目(2021ZD0204205);国家自然科学基金(8207053221);上海市浦江人才计划(22PJC074)

Research progress in preemptive screening and intervention for autism spectrum disorder in infancy

CAO Siyao¹(), LIU Jieqiong¹, WANG Guangshuai², WANG Guanghai¹^,³^,⁴()

^1.Pediatric Translational Medicine Institute, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 201200, China
^2.Faculty Artificial Intelligence in Education, National Engineering Research Center of Educational Big Data, Central China Normal University, Wuhan 430079, China
^3.Shanghai Center for Brain Science and Brain-Inspired Intelligence Technology, Shanghai 201602, China
^4.Ministry of Education-Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China

Received:2024-05-20 Accepted:2024-10-08 Online:2025-02-28 Published:2025-02-28
Contact: WANG Guanghai E-mail:caosiy0@163.com;wang-guanghai@163.com
Supported by:
National Science and Technology Innovation 2030 Major Project of China(2021ZD0204205);National Natural Science Foundation of China(8207053221);Shanghai Pujiang Program(22PJC074)

摘要/Abstract

摘要：

孤独症谱系障碍（autism spectrum disorder，ASD）是一种起病于儿童早期的神经发育障碍。当前儿童ASD的确诊年龄通常在2岁之后，但其行为迹象或前驱症状在12月龄前即可出现，并随着年龄增长逐渐发展为明显的核心症状。因此，ASD的早期筛查与干预尤为关键，其有助于最大程度改善患儿预后，促进患儿最佳发展结局。近年来，临床和研究领域愈加强调针对12月龄前儿童的ASD前驱症状开展“先发制人”的超早筛查和超早干预，旨在一定程度上减少儿童前驱症状或使其趋于正常。然而，在前驱症状期，特别是1岁以内进行ASD超早筛查和超早干预面临诸多挑战，导致相关研究非常有限。如ASD超早筛查存在婴幼儿个体生长发育差异性大、症状未巩固、评估方法不统一等问题，超早干预需克服筛查工具和家长可控性的差异等。该文重点介绍适用于1岁以内的ASD超早筛查工具，和英国孤独症儿童年幼同胞研究中的干预方案视频互动促进积极养育法，以及改善婴儿环境与接纳承诺疗法、改编的回应式教学法等超早干预方法，并阐释神经影像技术和人工智能技术的应用进展，以期为相关研究和临床实践提供参考。

关键词: 孤独症谱系障碍, 超早筛查, 超早干预, 婴儿

Abstract:

Autism spectrum disorder (ASD) is a neurodevelopmental disorder starting from early childhood. At present, the age of diagnosis for ASD in children is significantly delayed, typically occurring after two years of age, although behavioral signs or prodromal symptoms can emerge before the age of 12 months. These early indicators gradually evolve into the core symptoms of ASD. It has been well recognized that early screening and intervention can maximally improve its prognosis and promote optimal development of the affected children. Therefore, there has been increasing emphasis on preemptive screening and intervention for prodromal symptoms of ASD before the age of 12 months in clinical practice and research, so as to reduce the symptoms to a normal state to some extent. However, during the prodromal period of ASD, especially before the age of one, preemptive screening and intervention present many challenges. Preemptive screening faces obstacles such as significant individual differences in infant growth and development, incomplete presentation of ASD symptoms, and differing assessment content and criteria; preemptive intervention must overcome challenges like the diversity of screening tools and varying factors of parents. As a result, few research has been conducted in this field. This review mainly introduces preemptive screening tools and intervention techniques for children with ASD in the first year of life, including the intervention used in the British Autism Study of Infant Siblings-video interaction for promoting positive parenting (iBASIS-VIPP), the promoting first relationships, the environmental enrichment for infants, parenting with acceptance and commitment therapy (ENACT), and the adapted response teaching. The application of neuroimaging technology and artificial intelligence technology is also explained to provide reference for relevant research and clinical practice.

Key words: autism spectrum disorder (ASD), preemptive screening, preemptive intervention, infant

中图分类号:

R749

曹思瑶, 刘洁琼, 王广帅, 王广海. 孤独症谱系障碍婴儿期超早筛查和干预的研究进展[J]. 上海交通大学学报（医学版）, 2025, 45(2): 222-227.

CAO Siyao, LIU Jieqiong, WANG Guangshuai, WANG Guanghai. Research progress in preemptive screening and intervention for autism spectrum disorder in infancy[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2025, 45(2): 222-227.

参考文献 41

1	American Psychiatric Association. Diagnostic and statistical manual of mental disorders, Fifth Edition[M]. Arlington, VA: American Psychiatric Association, 2013.
2	赵亚楠, 王一然, 罗雅楠, 等. 中国孤独症儿童早期症状识别与诊断状况[J]. 中国学校卫生, 2021, 42(12): 1816-1819, 1824.
	ZHAO Y N, WANG Y R, LUO Y N, et al. ldentification and diagnosis of autism spectrum disorder among Chinese children in early stage[J]. Chinese Journal of School Health, 2021, 42(12): 1816-1819, 1824.
3	徐秀, 邹小兵, 柯晓燕, 等. 孤独症谱系障碍婴幼儿家庭实施早期干预专家共识[J]. 中国循证儿科杂志, 2021, 16(5): 327-332.
	XU X, ZOU X B, KE X Y, et al. Expert consensus on early intervention for infants with autism spectrum disorder implemented by families[J]. Chinese Journal of Evidence-Based Pediatrics, 2021, 16(5): 327-332.
4	MACDUFFIE K E, ESTES A M, HARRINGTON L T, et al. Presymptomatic detection and intervention for autism spectrum disorder[J]. Pediatrics, 2021, 147(5): e2020032250.
5	WEBB S J, JONES E J H, KELLY J, et al. The motivation for very early intervention for infants at high risk for autism spectrum disorders[J]. Int J Speech Lang Pathol, 2014, 16(1): 36-42.
6	WHITEHOUSE A J O, VARCIN K J, ALVARES G A, et al. Pre-emptive intervention versus treatment as usual for infants showing early behavioural risk signs of autism spectrum disorder: a single-blind, randomised controlled trial[J]. Lancet Child Adolesc Health, 2019, 3(9): 605-615.
7	SEGAL L, GREEN J, TWIZEYEMARIYA A, et al. Estimated therapy costs and downstream cost consequences of iBASIS-video interaction to promote positive parenting intervention vs usual care among children displaying early behavioral signs of autism in Australia[J]. JAMA Netw Open, 2023, 6(4): e235847.
8	宋佳丽, 代英. 幼儿期孤独症筛查工具介绍[J]. 中国实用儿科杂志, 2023, 38(4): 307-313.
	SONG J L, DAI Y. Introduction to the screening tool for autism in two-year-olds (STAT)[J]. Chinese Journal of Practical Pediatrics, 2023, 38(4): 307-313.
9	国家卫生健康委员会. 0~6岁儿童孤独症筛查干预服务规范(试行)[EB／OL]. (2022-08-23)[2024-05-20]. https://www.gov.cn/zhengce/zhengceku/2022-09/23/content_5711379.htm.
	National Health Commission of China. The norms of autism screening and intervention services for children aged 0 to 6 years old (Trial)[EB／OL]. (2022-08-23)[2024-05-20]. https://www.gov.cn/zhengce/zhengceku/2022-09/23/content_5711379.htm.
10	ZWAIGENBAUM L, BRYSON S E, BRIAN J, et al. Assessment of autism symptoms from 6 to 18 months of age using the autism observation scale for infants in a prospective high-risk cohort[J]. Child Dev, 2021, 92(3): 1187-1198.
11	WHITEHOUSE A J O, VARCIN K J, PILLAR S, et al. Effect of preemptive intervention on developmental outcomes among infants showing early signs of autism: a randomized clinical trial of outcomes to diagnosis[J]. JAMA Pediatr, 2021, 175(11): e213298.
12	BARBARO J, WANG C Y, WANG J, et al. A pilot investigation of the social attention and communication surveillance (SACS) tool for the early identification of autism in Tianjin, China (SACS-C)[J]. Front Neurol, 2020, 11: 597790.
13	FELDMAN M A, WARD R A, SAVONA D, et al. Development and initial validation of a parent report measure of the behavioral development of infants at risk for autism spectrum disorders[J]. J Autism Dev Disord, 2012, 42(1): 13-22.
14	SACREY L R, ZWAIGENBAUM L, BRYSON S, et al. Screening for behavioral signs of autism spectrum disorder in 9-month-old infant siblings[J]. J Autism Dev Disord, 2021, 51(3): 839-848.
15	SACREY L R, BRYSON S, ZWAIGENBAUM L, et al. The autism parent screen for infants: predicting risk of autism spectrum disorder based on parent-reported behavior observed at 6‒24 months of age[J]. Autism, 2018, 22(3): 322-334.
16	LEE H Y, VIGEN C, ZWAIGENBAUM L, et al. The performance of the first year inventory (FYI) screening on a sample of high-risk 12-month-olds diagnosed with autism spectrum disorder (ASD) at 36 months[J]. J Autism Dev Disord, 2019, 49(12): 4957-4973.
17	ROWBERRY J, MACARI S, CHEN G, et al. Screening for autism spectrum disorders in 12-month-old high-risk siblings by parental report[J]. J Autism Dev Disord, 2015, 45(1): 221-229.
18	TURNER-BROWN L M, BARANEK G T, STEVEN REZNICK J, et al. The First Year Inventory: a longitudinal follow-up of 12-month-old to 3-year-old children[J]. Autism, 2013, 17(5): 527-540.
19	张莺, 孙晓艳, 李晶, 等. 沟通及象征性行为发展量表在婴儿早期孤独症筛查中的应用[J]. 中国乡村医药, 2023, 30(17): 37-38.
	ZHANG Y, SUN X Y, L J, et al. Communication and Symbolic Behavior Scales in early infant autism screening[J]. Chinese Journal of Rural Medicine and Pharmacy, 2023, 30(17): 37-38.
20	WETHERBY A M, BROSNAN-MADDOX S, PEACE V, et al. Validation of the Infant-Toddler Checklist as a broadband screener for autism spectrum disorders from 9 to 24 months of age[J]. Autism, 2008, 12(5): 487-511.
21	李亦诚, 张媛媛, 霍言言, 等. 应用移动端开展孤独症谱系障碍居家早期筛查的初步研究[J]. 中国儿童保健杂志, 2023, 31(9): 963-968, 974.
	Ll Y C, ZHANG Y Y, HUO Y Y, et al. Preliminary study on the application of mobile terminal in the early screening for autism spectrum disorder in children at home[J]. Chinese Journal of Child Health Care, 2023, 31(9): 963-968, 974.
22	DAWSON G, RIEDER A D, JOHNSON M H. Prediction of autism in infants: progress and challenges[J]. Lancet Neurol, 2023, 22(3): 244-254.
23	KO C, LIM J H, HONG J, et al. Development and validation of a joint attention-based deep learning system for detection and symptom severity assessment of autism spectrum disorder[J]. JAMA Netw Open, 2023, 6(5): e2315174.
24	EMERSON R W, ADAMS C, NISHINO T, et al. Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age[J]. Sci Transl Med, 2017, 9(393): eaag2882.
25	SHEN M D, KIM S H, MCKINSTRY R C, et al. Increased extra-axial cerebrospinal fluid in high-risk infants who later develop autism[J]. Biol Psychiatry, 2017, 82(3): 186-193.
26	BOSL W J, TAGER-FLUSBERG H, NELSON C A. EEG analytics for early detection of autism spectrum disorder: a data-driven approach[J]. Sci Rep, 2018, 8(1): 6828.
27	PECK F C, GABARD-DURNAM L J, WILKINSON C L, et al. Prediction of autism spectrum disorder diagnosis using nonlinear measures of language-related EEG at 6 and 12 months[J]. J Neurodev Disord, 2021, 13(1): 57.
28	GUI A N, MEABURN E L, TYE C, et al. Association of polygenic liability for autism with face-sensitive cortical responses from infancy[J]. JAMA Pediatr, 2021, 175(9): 968-970.
29	WHITTINGHAM K, MCGLADE A, KULASINGHE K, et al. ENACT (ENvironmental enrichment for infants; parenting with Acceptance and Commitment Therapy): a randomised controlled trial of an innovative intervention for infants at risk of autism spectrum disorder[J]. BMJ Open, 2020, 10(8): e034315.
30	GREEN J, CHARMAN T, PICKLES A, et al. Parent-mediated intervention versus no intervention for infants at high risk of autism: a parallel, single-blind, randomised trial[J]. Lancet Psychiatry, 2015, 2(2): 133-140.
31	GREEN J, PICKLES A, PASCO G, et al. Randomised trial of a parent-mediated intervention for infants at high risk for autism: longitudinal outcomes to age 3 years[J]. J Child Psychol Psychiatry, 2017, 58(12): 1330-1340.
32	KASARI C. Time to rethink pre-emptive interventions for infants with early signs of autism spectrum disorder[J]. Lancet Child Adolesc Health, 2019, 3(9): 586-587.
33	JONES E J H, DAWSON G, KELLY J, et al. Parent-delivered early intervention in infants at risk for ASD: effects on electrophysiological and habituation measures of social attention[J]. Autism Res, 2017, 10(5): 961-972.
34	WATSON L R, CRAIS E R, BARANEK G T, et al. Parent-mediated intervention for one-year-olds screened as at-risk for autism spectrum disorder: a randomized controlled trial[J]. J Autism Dev Disord, 2017, 47(11): 3520-3540.
35	HAMPTON L H, RODRIGUEZ E M. Preemptive interventions for infants and toddlers with a high likelihood for autism: a systematic review and meta-analysis[J]. Autism, 2022, 26(6): 1364-1378.
36	柯晓燕. 孤独症谱系障碍以家长为中介的超早期干预[J]. 中国儿童保健杂志, 2020, 28(1): 3-5.
	KE X Y. Very early intervention with parents as mediators for autism spectrum disorder[J]. Chinese Journal of Child Health Care, 2020, 28(1): 3-5.
37	柯晓燕. 孤独症谱系障碍早期识别与早期诊断的现状与挑战[J]. 中国儿童保健杂志, 2023, 31(3): 238-240.
	KE X Y. Status and challenges of early recognition and early diagnosis of autismspectrum disorder [J]. Chinese Journal of Child Health Care, 2023, 31(3): 238-240.
38	静进. 孤独症谱系障碍的治疗干预现状与建议[J]. 中国儿童保健杂志, 2023, 31(9): 939-944.
	JING J. Treatment and intervention of autism spectrum disorder in China and suggestions for further practice[J]. Chinese Journal of Child Health Care, 2023, 31(9): 939-944.
39	LORD C, CHARMAN T, HAVDAHL A, et al. The Lancet Commission on the future of care and clinical research in autism[J]. Lancet, 2022, 399(10321): 271-334.
40	SCASSELLATI B, BOCCANFUSO L, HUANG C M, et al. Improving social skills in children with ASD using a long-term, in-home social robot[J]. Sci Robot, 2018, 3(21): eaat7544.
41	BIDARGADDI N, SCHRADER G, KLASNJA P, et al. Designing m-Health interventions for precision mental health support[J]. Transl Psychiatry, 2020, 10: 222.

编辑推荐 0

Metrics

阅读次数

全文

202

HTML			PDF

最新录用	在线预览	正式出版	最新录用	在线预览	正式出版
0	0	15	0	0	187

来源	本网站	其他网站

次数	75	127
比例	37%	63%

摘要

226

最新录用	在线预览	正式出版

0	0	226

来源	本网站	其他网站

次数	46	180
比例	20%	80%

[1]	李一白, 崔瑞及, 高珊, 胡嘉晋, 郭晓英. 婴儿晚发型B族链球菌感染及其预防的研究进展[J]. 上海交通大学学报（医学版）, 2024, 44(8): 1044-1049.
[2]	吕娜, 章玲丽, 任芳, 杨涵舒, 李斐, 徐明玉. 孤独症谱系障碍RUBI-PT方案的改编及适应性调查[J]. 上海交通大学学报（医学版）, 2024, 44(3): 291-300.
[3]	吴丹萍, 任芳, 沈理笑, 薛敏波, 王俊丽, 李斐, 徐明玉. 孤独症谱系障碍ImPACT干预方案的改编及适应性调查[J]. 上海交通大学学报（医学版）, 2022, 42(9): 1239-1246.
[4]	吴诗寅, 蔡美琴. 戊糖片球菌治疗婴儿肠绞痛的临床研究概述[J]. 上海交通大学学报（医学版）, 2022, 42(11): 1633-1637.
[5]	马嘉吟, 邬钰玮, 吴佳佳, 唐琳, 单春雷, 徐建光. 静息状态皮肤电活动在孤独症谱系障碍群体应用的研究进展[J]. 上海交通大学学报（医学版）, 2022, 42(11): 1598-1604.
[6]	钱诺诗, 洪武, 李春波. 经颅直流电刺激应用于儿童少年精神障碍治疗的研究进展[J]. 上海交通大学学报(医学版), 2021, 41(10): 1366-1370.
[7]	倪坤1，赵利敏1，李晓艳1，时海波2. 城市1岁以下婴儿急性中耳炎临床特点与危险因素分析[J]. 上海交通大学学报(医学版), 2020, 40(7): 923-928.
[8]	李圆圆，文静，杨亭，郭敏，朱江，陈立，陈洁，李廷玉. 孤独症谱系障碍患儿睡眠问题与行为表现的关系[J]. 上海交通大学学报（医学版）, 2019, 39(5): 505-.
[9]	陈珺珏，田琳璐，韦严，亢晓丽. X染色体连锁显性遗传婴儿眼球震颤家系的临床特征研究[J]. 上海交通大学学报（医学版）, 2018, 38(11): 1355-.
[10]	李波，但颖之，张侃，金立红，陈怡绮 . 哺乳补救用于水合氯醛镇静失败的紫绀型先天性心脏病婴儿的有效性和安全性[J]. 上海交通大学学报（医学版）, 2018, 38(1): 81-.
[11]	李珂,江晓东，季忆婷,李斐 . 孤独症谱系障碍儿童胃肠问题检出情况初探[J]. 上海交通大学学报（医学版）, 2017, 37(11): 1507-.
[12]	白凯，陈笋，梅举，等. 氨基末端脑钠肽前体在婴儿简单先天性心脏病围术期风险预测中的价值[J]. 上海交通大学学报（医学版）, 2015, 35(8): 1179-.
[13]	张琦, 费萍, 赵培泉. 903名婴儿RetCamⅡ检查临床分析[J]. 上海交通大学学报（医学版）, 2013, 33(8): 1126-.
[14]	赵冬莹，何振娟，朱建幸，等. 血清总胆汁酸联合γ谷氨酰转肽酶检测在评估延迟性黄疸病因中的价值[J]. 上海交通大学学报（医学版）, 2013, 33(7): 931-.
[15]	苗红, 程蔚蔚. 孕期铅暴露对胎儿及婴幼儿的影响[J]. , 2011, 31(5): 667-.

孤独症谱系障碍婴儿期超早筛查和干预的研究进展

Research progress in preemptive screening and intervention for autism spectrum disorder in infancy

RichHTML

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

参考文献 41

相关文章 15

编辑推荐 0

Metrics