Chinese Journal of Child Health Care ›› 2025, Vol. 33 ›› Issue (1): 112-116.DOI: 10.11852/zgetbjzz2024-0443
• Case Report • Previous Articles
Received:
2024-04-21
Revised:
2024-06-19
Online:
2025-01-10
Published:
2025-01-16
李梦月1, 李慧慧1, 黄永1, 王甘雨1, 韩惠惠1, 孙爽1, 史晓依1, 王阳阳2, 王亚哲1
通讯作者:
王亚哲:E-mail:wangyazhe1609@126.com
作者简介:
李梦月(1993—),女,主治医师,硕士学位,主要研究方向为儿童发育行为。
CLC Number:
李梦月, 李慧慧, 黄永, 王甘雨, 韩惠惠, 孙爽, 史晓依, 王阳阳, 王亚哲. ARID1B基因变异所致Coffin-Siris综合征合并孤独症谱系障碍2例报道并文献复习[J]. 中国儿童保健杂志, 2025, 33(1): 112-116.
Add to citation manager EndNote|Ris|BibTeX
[1] Purpura G, Fulceri F, Puglisi V, et al. Motor coordination impairment in children with autism spectrum disorder: A pilot study using Movement Assessment Battery for Children-2 Checklist[J]. Minerva Pediatr, 2020, 72(1):22-29. [2] Kosho T, Okamoto N, et al. Genotype-phenotype correlation of coffin-siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A[J]. Am J Med Genet C Semin Med Genet, 2014, 166C(3):262-275. [3] Celen C, Chuang JC, Luo X, et al. Arid1b haploinsufficient mice reveal neurop-sychiatric phenotypes and reversible causes of growth impairment[J]. Elife, 2017, 6:e25730. [4] Moffat JJ, Smith AL, Jung EM, et al. Neurobiology ofARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders[J]. Mol Psychiatry, 2022, 27(1):476-489. [5] Maenner MJ, Warren Z, Williams AR, et al. Prevalence and characteristics of autism spectrum disorder among children aged 8 years-autism and developmental disabilities Monitoring Network, 11 Sites, United States, 2020[J]. MMWR Surveill Summ,2023,72(2):1-14. [6] Griesi-Oliveira K, Sertié A L. Autism spectrum disorders: An updated guide for genetic counseling[J]. Einstein (Sao Paulo), 2017, 15(2):233-238. [7] Hersh JH, Bloom AS, Weisskopf B. Childhood autism in a female with Coffin Siris Syndrome[J]. J Dev Behav Pediatr, 1982, 3(4):249-252. [8] Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5):405-424. [9] Demily C, Duwime C, Lopez C, et al. Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions inARID1B mutations with Coffin-Siris syndrome[J]. Psychiatr Genet, 2019, 29(6):237-242. [10] Lohiya N, Chalipat S, Lohiya N, et al. Neurocognitive, behavioral and socio-adaptive functioning assessment in a case of Coffin-Siris syndrome: A holistic approach/perspective beyond the identification of the disorder[J]. J Pediatr Rehabil Med, 2022, 15(3):529-532. [11] 陈梦莹,夏冬晴.表现为孤独症,语言障碍的Coffin-Siris综合征1例[J].中国临床案例成果数据库,2022,4(1):e02163-e02163. Chen MY, Xia DQ. A case report: Coffin-Siris syndrome manifested by autism and language disorder[J]. Chinese Medical Care Repository, 2022, 4(1):e02163-e02163.(in Chinese) [12] Milutinovic L, Grujicic R, Mandic Maravic V, et al. Autism spectrum disorder and Coffin-Siris syndrome-Case report[J]. Front Psychiatry, 2023, 14:199710. [13] 郭毅,曾婷,刘需需,等.一例Coffin-Siris综合征浅析及相关文献复习[J].中国优生与遗传杂志,2020,28(7):830-832. Guo Y, Zeng T, Liu XX, et al. The analysis of a case of Coffin-Siris syndrome and the review of related literature[J]. Chin J Birth Health & Heredity, 2020, 28(7):830-832.(in Chinese) [14] Tan Y, Chen J, Li Y, et al. Three novel ARID1B variations in Coffin-Siris Syndrome patients[J]. Neurol India, 2022,70(5):2174-2179. [15] 车凤玉,杨颖,张李钰,等.两例Coffin-Siris综合征1型患者的临床特征及遗传学分析[J].中华医学遗传学杂志,2022,39(8):848-853. Che FY, Yang Y, Zhang LY, et al. Clinical features and genetic analysis of two Chinese patients with Coffin Siris syndrome-1[J].Chin J Med Genet, 2022, 39(8):848-853.(in Chinese) [16] Bramswig NC, Caluseriu O, Lüdecke HJ, et al. Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype[J]. Hum Genet, 2017, 136(3):297-305. [17] Lai MC, Lombardo MV, Baron-Cohen S. Autism[J]. Lancet, 2014, 383(9920):896-910. [18] Ellegood J, Petkova SP, Kinman A, et al. Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development[J]. Mol Autism, 2021, 12(1):25. [19] Paulsen B, Velasco S, Kedaigle A J, et al. Autism genes converge on asynchronous development of shared neuron classes[J]. Nature, 2022, 602(7896):268-273. [20] Jung EM, Moffat JJ, Liu J, et al. Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior[J]. Nat Neurosci, 2017, 20(12):1694-1707. [21] Satterstrom FK, Kosmicki JA, Wang J, et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism[J]. Cell, 2020, 180(3):568-584.e523. [22] Zulauf Logoz M.The revision and 5th edition of the diagnostic and statistical manual of mental disorders (DSM-5): Consequences for the diagnostic work with children and adolescents[J]. Prax Kinderpsychol Kinderpsychiatr, 2014, 63 (7): 562-576. |
[1] | Specialized Committee on Prevention and Treatment of Autism of China Maternal and Child Health Research AssociationHubei Special Children Rehabilitation Association. Expert consensus on health management of children with autism spectrum disorder [J]. Chinese Journal of Child Health Care, 2025, 33(1): 1-7. |
[2] | WU Lijie. Policy maps and insights related to autism spectrum disorders in mainland of China [J]. Chinese Journal of Child Health Care, 2025, 33(1): 8-12. |
[3] | YI Mingji, YANG Zhaochuan. Emphasizing nutritional problems and intervention in children with autism spectrum disorder [J]. Chinese Journal of Child Health Care, 2025, 33(1): 13-17. |
[4] | ZHANG Yangyang, LI Bolin, FENG Pengya, ZHENG Ruijuan, LI Hang, QIU Chunjing, ZHAO Yonghong, LI Enyao. Correlation of gut microbiota in children with autism spectrum disorder with food intolerance, inflammatory factors and oxidative stress [J]. Chinese Journal of Child Health Care, 2025, 33(1): 18-26. |
[5] | XIAO Lian, LI Xiaofei, WANG Lei. Causal association between autism spectrum disorder and gut microbiota based on Mendelian randomization analysis [J]. Chinese Journal of Child Health Care, 2025, 33(1): 27-33. |
[6] | ZHANG Lin, SHAO Zhi, XIA Lei, ZHANG Yaru, ZHANG Ting. Empirical study on clinical intervention of theory of mind interpretation in children with autism spectrum disorder [J]. Chinese Journal of Child Health Care, 2025, 33(1): 34-38. |
[7] | LI Huimei, LIU Xiao, DAI Ying, CHENG Qian. Follow-up outcomes and developmental characteristics of children with suspected autism spectrum disorder [J]. Chinese Journal of Child Health Care, 2025, 33(1): 39-42. |
[8] | MA Liqin, HU Min, LI Aiwen, LIAO Linyan, QIN Yao, ZHAO Yan, DENG Liangqiong. Symptoms severity and physical development of children with autism spectrum disorder of different initial diagnosis ages [J]. Chinese Journal of Child Health Care, 2025, 33(1): 43-48. |
[9] | TIAN Wenru, YANG Bilin, HU Jingyi, LIU Shidan, ZOU Mingying, WU Lijie, SUN Caihong. Effect of cannabinoid receptor 2 on autism-like behaviors inmice by regulating microglial function [J]. Chinese Journal of Child Health Care, 2025, 33(1): 62-70. |
[10] | YANG Huimin, WANG Lihong, LI Ruili, ZHENG Xiaoguo, ZHU Yanli, ZHANG Xiaoming, CHEN Bowen. Realistic examination and countermeasures of screening and intervention for children with autism spectrum disorder in China [J]. Chinese Journal of Child Health Care, 2025, 33(1): 71-76. |
[11] | ZHAO Tingting, SUN Hao, ZHANG Panpan, XIAO Xuwu. Association of vitamins and trace elements level with autism spectrum disorder [J]. Chinese Journal of Child Health Care, 2025, 33(1): 77-82. |
[12] | WANG Lihong, YU Lianhu, CAO Aihua. Advances in the treatment of autism spectrum disorder by fecal microbiota transplantation [J]. Chinese Journal of Child Health Care, 2025, 33(1): 83-87. |
[13] | HOU Yaoqi, WANG Yan, DENG Jiaqi, SONG Xiangqin. Research progress on improving inhibitory control function in children andadolescents with autism spectrum disorder through exercise intervention [J]. Chinese Journal of Child Health Care, 2025, 33(1): 92-96. |
[14] | LI Lifang, LI Jing, ZHANG Changjie. Characteristics of language disorders in children with autism spectrum disorder and rehabilitation intervention mode to improve their language ability [J]. Chinese Journal of Child Health Care, 2025, 33(1): 97-102. |
[15] | TIAN Yanping, LI Wei, LI Qinghong, WU Jiana, LAI Yanmei, JIANG Xue, LYU Zhihai. Visualization analysis of international knowledge network mapping of the autismspectrum disorder-gut-brain axis in the last decade based on CiteSpace [J]. Chinese Journal of Child Health Care, 2025, 33(1): 103-111. |
Viewed | ||||||
Full text |
|
|||||
Abstract |
|
|||||