孤独症谱系障碍儿童发育倒退的影响因素

doi:10.11852/zgetbjzz2021-0483

中国儿童保健杂志 ›› 2022, Vol. 30 ›› Issue (11): 1208-1211.DOI: 10.11852/zgetbjzz2021-0483

所属专题：孤独症谱系障碍

孤独症谱系障碍儿童发育倒退的影响因素

周平, 陈立

重庆医科大学附属儿童医院儿童青少年生长发育与心理健康中心/国家儿童健康与疾病临床医学研究中心/儿童发育疾病研究教育部重点实验室/认知发育与学习记忆障碍转化医学重庆市重点实验室/儿童营养与健康重庆市重点实验室,重庆 400014

收稿日期:2021-04-01 修回日期:2021-05-13 发布日期:2022-11-09 出版日期:2022-11-10
通讯作者: 陈立,E-mail:chenli@cqmu.edu.cn.
作者简介::周平(1993- ),女,重庆人,住院医师,在读硕士研究生,主要研究方向为儿童发育障碍性疾病。
基金资助:
重庆市技术创新与应用示范项目(cstc2018jscx-mszdX0023)

Influencing factors of developmental regression in children with autism spectrum disorder

ZHOU Ping, CHEN Li

Growth, Development and Mental Health Center for Children and Adolescents, Children's Hospital of Chongqing Medical University; Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders; China International Science and Technology Cooperation Base of Child Development and Critical Disorders; Chongqing Key Laboratory of Translational; Chongqing Key Laboratory of Child Nutrition and Health, Chongqing 400014, China

Received:2021-04-01 Revised:2021-05-13 Online:2022-11-10 Published:2022-11-09
Contact: CHEN Li, E-mail:chenli@cqmu.edu.cn

摘要/Abstract

摘要： 孤独症谱系障碍(ASD)是一组以不同临床表现为主要特征的神经发育性障碍。近年来,ASD儿童的发育倒退(DR)受到越来越多的关注,并被认为可能是ASD的一种特殊亚型。目前关于ASD儿童DR的影响因素尚不清楚,综合文献分析主要是由遗传、环境及其交互作用共同引起。本文拟从遗传和环境两方面对目前报道的ASD儿童DR影响因素进行总结,为该部分ASD患儿的临床早期识别和干预提供参考。

关键词: 孤独症谱系障碍, 发育倒退, 神经发育性障碍

Abstract: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized as heterogeneous clinical manifestations.Developmental regression, regarded as a specific subtype in ASD, is getting more and more attention.However, the influencing factors of regression are not clear.It is generally believed that it is a kind of developmental disorder caused by genetics, environment and their interaction.This review aims to summarize the influencing factors increasing risk of regressive autism from the perspective of environment and genetics, thereby providing references for the recognition and interventions in early childhood.

Key words: autism spectrum disorder(ASD), developmental regression, neurodevelopmental disorder

中图分类号:

R749.94

周平, 陈立. 孤独症谱系障碍儿童发育倒退的影响因素[J]. 中国儿童保健杂志, 2022, 30(11): 1208-1211.

ZHOU Ping, CHEN Li. Influencing factors of developmental regression in children with autism spectrum disorder[J]. Chinese Journal of Child Health Care, 2022, 30(11): 1208-1211.

参考文献

[1] Hyman SL, Levy SE, Myers SM. Identification, evaluation, and management of children with autism spectrum disorder[J]. Pediatrics, 2020, 145(1): e20193447.
[2] Zhang D, Bedogni F, Boterberg S, et al. Towards a consensus on developmental regression[J]. Neurosci Biobehav Rev, 2019, 107: 3-5.
[3] Pearson N, Charman T, Happé F, et al. Regression in autism spectrum disorder: Reconciling findings from retrospective and prospective research[J]. Autism Res, 2018, 11(12): 1602-1620.
[4] Pickles A, Wright N, Bedford R, et al. Predictors of language regression and its association with subsequent communication development in children with autism[J]. J Child Psychol Psychiatry, 2022, 63(11):1243-1251.
[5] Manelis L, Meiri G, Ilan M, et al. Language regression is associated with faster early motor development in children with autism spectrum disorder[J]. Autism Res, 2020, 13(1): 145-156.
[6] Aslan C, Konuşkan B, Şener B, et al. Comparison of serum anti-neuronal antibody levels in patients having autism spectrum disorder with and without regression[J]. Turk J Pediatr, 2021, 63(5): 780-789.
[7] Thompson L, Gillberg C, Landberg S, et al. Autism with and without regression: A two-year prospective longitudinal study in two population-derived Swedish cohorts[J]. J Autism Dev Disord, 2019, 49(6): 2281-2290.
[8] Kobayashi R, Murata T. Setback phenomenon in autism and long-term prognosis[J]. Acta Psychiatr Scand, 1998, 98(4): 296-303.
[9] Bernabei P, Cerquiglini A, Cortesi F, et al. Regression versus no regression in the autistic disorder: Developmental trajectories[J]. J Autism Dev Disord, 2007, 37(3): 580-588.
[10] 方慧. 倒退型孤独症谱系障碍儿童的弥散张量成像研究[D]. 南京:南京医科大学, 2019.
[11] 武巧荣, 方慧, 李赟, 等. 倒退型孤独障碍儿童的临床特征分析[J]. 临床精神医学杂志, 2017, 27(2): 78-80.
[12] Xu N, Lv H, Yang T, et al. A 29 mainland Chinese cohort of patients with Phelan-McDermid syndrome: Genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes[J]. Orphanet J Rare Dis, 2020, 15(1): 335.
[13] Peters SU, Katzenstein A, Jones D, et al. Distinguishing response to names in Rett and MECP2 Duplication syndrome: An ERP study of auditory social information processing[J]. Brain Res, 2017, 1675:71-77.
[14] Peters SU, Hundley RJ, Wilson AK, et al. Brief report: Regression timing and associated features in MECP2 duplication syndrome[J]. J Autism Dev Disord, 2013, 43(10): 2484-2490.
[15] Boterberg S, Vantroys E, De Paepe B, et al. Urine lactate concentration as a non-invasive screener for metabolic abnormalities:Findings in children with autism spectrum disorder and regression[J]. PLoS One, 2022, 17(9): e0274310.
[16] De Rubeis S, Siper PM, Durkin A, et al. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations[J]. MolAutism, 2018, 9: 31.
[17] Tammimies K. Genetic mechanisms of regression in autism spectrum disorder[J]. Neurosci Biobehav Rev, 2019, 102: 208-220.
[18] Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A, et al. A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy[J]. Seizure, 2019, 71:161-165.
[19] Molloy CA, Keddache M, Martin LJ. Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression[J]. Mol Psychiatry, 2005, 10(8): 741-746.
[20] 刘阳, 白卉, 陶欢, 等. 面向药物发现和精准医疗的基因表达谱分析[J]. 生物化学与生物物理进展, 2016, 10(43): 923-935.
[21] Ellis MJ, Larsen K, Havighurst SS. Childhood disintegrative disorder (CDD): Symptomatology of the Norwegian patient population and parents' experiences of patient regression[J]. J Autism Dev Disord, 2022, 52(4): 1495-1506.
[22] Nordahl CW, Lange N, Li DD, et al. Brain enlargement is associated with regression in preschool-age boys with autism spectrum disorders[J]. Proc Natl Acad Sci U S A, 2011, 108(50): 20195-20200.
[23] 武巧荣. 倒退型ASD儿童的临床特征及其脑体积研究[D].南京:南京医科大学, 2017.
[24] Lainhart JE, Ozonoff S, Coon H, et al. Autism, regression, and the broader autism phenotype[J]. Am J Med Genet, 2002, 113(3): 231-237.
[25] Valvo G, Baldini S, Retico A, et al. Temporal lobe connects regression and macrocephaly to autism spectrum disorders[J]. Eur Child Adolesc Psychiatry, 2016, 25(4): 421-429.
[26] Ji L, Chauhan V, Flory MJ, et al. Brain region-specific decrease in the activity and expression of protein kinase A in the frontal cortex of regressive autism[J]. PLoS One, 2011, 6(8): e23751.
[27] Ji L, Chauhan A, Chauhan V. Reduced activity of protein kinase C in the frontal cortex of subjects with regressive autism: Relationship with developmental abnormalities[J]. Int J Biol Sci, 2012, 8(7): 1075-1084.
[28] Kern JK, Geier DA, Sykes LK, et al. Evidence of neurodegeneration in autism spectrum disorder[J]. Transl Neurodegener, 2013, 2(1): 17.
[29] Sharon G, Cruz NJ, Kang DW, et al. Human gut microbiota from autism spectrum disorder promote behavioral symptoms in mice[J]. Cell, 2019, 177(6): 1600-1618.e17.
[30] Srikantha P, Mohajeri MH. The possible role of the microbiota-gut-brain-axis in autism spectrum disorder[J]. Int J Mol Sci, 2019, 20(9): 2115.
[31] Rutsch A, Kantsjö JB, Ronchi F. The gut-brain axis: How microbiota and host inflammasome influence brain physiology and pathology[J]. Front Immunol, 2020, 11:604179.
[32] Finegold SM, Downes J, Summanen PH. Microbiology of regressive autism[J]. Anaerobe, 2012, 18(2): 260-262.
[33] Finegold SM. Desulfovibrio species are potentially important in regressive autism[J]. Med Hypotheses, 2011, 77(2): 270-274.
[34] Plaza-Díaz J, Gómez-Fernández A, Chueca N, et al. Autism spectrum disorder (ASD) with and without mental regression is associated with changes in the fecal microbiota[J]. Nutrients, 2019, 11(2): 337.
[35] Downs R, Perna J, Vitelli A, et al. Model-based hypothesis of gut microbe populations and gut/brain barrier permeabilities in the development of regressive autism[J]. Med Hypotheses, 2014, 83(6): 649-655.
[36] Scott O, Shi D, Andriashek D, et al. Clinical clues for autoimmunity and neuroinflammation in patients with autistic regression[J]. Dev Med Child Neurol, 2017, 59(9): 947-951.
[37] Brito AR, Vairo GPT, Dias A, et al. Effect of prednisolone on language function in children with autistic spectrum disorder: A randomized clinical trial[J]. J Pediatr (Rio J), 2021, 97(1): 22-29.
[38] Stefanatos GA. Regression in autistic spectrum disorders[J]. Neuropsychol Rev, 2008, 18(4): 305-319.
[39] Tamouza R, Fernell E, Eriksson MA, et al. HLA polymorphism in regressive and non-regressive autism: A preliminary study[J]. Autism Res, 2020, 13(2): 182-186.
[40] Wasilewska J, Kaczmarski M, Stasiak-Barmuta A, et al. Low serum IgA and increased expression of CD23 on B lymphocytes in peripheral blood in children with regressive autism aged 3-6 years old[J]. Arch Med Sci, 2012, 8(2): 324-331.
[41] Boterberg S, Charman T, Marschik PB, et al. Regression in autism spectrum disorder: A critical overview of retrospective findings and recommendations for future research[J]. Neurosci Biobehav Rev, 2019, 102: 24-55.
[42] Ewen JB, Marvin AR, Law K, et al. Epilepsy and autism severity: A study of 6,975 children[J]. Autism Res, 2019, 12(8): 1251-1259.
[43] Oslejsková H, Dusek L, Makovská Z, et al. Complicated relationship between autism with regression and epilepsy[J]. Neuro Endocrinol Lett, 2008, 29(4): 558-570.
[44] Giannotti F, Cortesi F, Cerquiglini A, et al. An investigation of sleep characteristics, EEG abnormalities and epilepsy in developmentally regressed and non-regressed children with autism[J]. J Autism Dev Disord, 2008, 38(10): 1888-1897.
[45] Besag FM, Blackmon K. Comments on Hughes JR. A review of recent reports on autism: 1000 studies published in 2007. Epilepsy & behavior 2008,13:425-437 and Hughes JR. Update on autism: a review of 1300 reports published in 2008. Epilepsy & behavior 2009,16:569-589[J]. Epilepsy Behav, 2014, 40: 37-41.
[46] Ijomone OM, Olung NF, Akingbade GT, et al. Environmental influence on neurodevelopmental disorders: Potential association of heavy metal exposure and autism[J]. J Trace Elem Med Biol, 2020, 62:126638.
[47] Frye RE, Cakir J, Rose S, et al. Early life metal exposure dysregulates cellular bioenergetics in children with regressive autism spectrum disorder[J]. Transl Psychiatry, 2020, 10(1): 223.

孤独症谱系障碍儿童发育倒退的影响因素

Influencing factors of developmental regression in children with autism spectrum disorder

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