Chinese Journal of Child Health Care ›› 2024, Vol. 32 ›› Issue (2): 174-180.DOI: 10.11852/zgetbjzz2023-0344
• Review • Previous Articles Next Articles
GONG Chao1, LIAN Beibei1, LI Xuemei1,2, ZHANG Peng1,3, SONG Fanxu1,2, GUO Jin1,3
Received:
2023-01-31
Online:
2024-02-10
Published:
2024-02-21
Contact:
GUO Jin, E-mail:guojin8002@163.com
公超1, 连贝贝1, 李雪梅1,2, 张朋1,3, 宋凡旭1,2, 郭津1,3
通讯作者:
郭津,E-mail:guojin8002@163.com
作者简介:
公超(1998-),男,山东人,硕士研究生在读,主要研究方向为脑瘫共病癫痫的病因学。
基金资助:
CLC Number:
GONG Chao, LIAN Beibei, LI Xuemei, ZHANG Peng, SONG Fanxu, GUO Jin. Genetic factors, risk factors and pathogenesis of cerebral palsy comorbid epilepsy[J]. Chinese Journal of Child Health Care, 2024, 32(2): 174-180.
公超, 连贝贝, 李雪梅, 张朋, 宋凡旭, 郭津. 脑性瘫痪共病癫痫的遗传因素、危险因素及发病机制[J]. 中国儿童保健杂志, 2024, 32(2): 174-180.
Add to citation manager EndNote|Ris|BibTeX
[1] Rosenbaum P, Paneth N, Leviton A, et al. A report: The definition and classification of cerebral palsy April 2006[J]. Erratum in: Dev Med Child Neurol, 2007, 49(6): 480. [2] Fisher RS, Acevedo C, Arzimanoglou A, et al. ILAE official report:A practical clinical definition of epilepsy[J]. Epilepsia, 2014, 55(4): 475-482. [3] Gong C, Liu A, Lian B, et al. Prevalence and related factors of epilepsy in children and adolescents with cerebral palsy: A systematic review and meta-analysis[J].Front Pediatr, 2023, 11: 1189648. [4] Gong C, Liu X, Fang L, et al. Prevalence of cerebral palsy comorbidities in China: A systematic review and meta-analysis[J]. Front Neurol,14:1233700. [5] Hanci F, Türay S, Dilek M, et al. Epilepsy and drug-resistant epilepsy in children with cerebral palsy: A retrospective observational study[J]. Epilepsy Behav, 2020, 112: 107357. [6] Mei H, Yang L, Xiao T, et al. Genetic spectrum identified by exome sequencing in a Chinese pediatric cerebral palsy cohort[J]. J Pediatr, 2022, 242: 206-212. [7] Neuray C, Maroofian R, Scala M, et al. Early-infantile onset epilepsy and developmental delay caused by biallelic GAD1 variants[J]. Brain, 2020, 143(8): 2388-2397. [8] Webb EA, AlMutair A, Kelberman D, et al. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies[J]. Brain, 2013, 136(Pt10): 3096-3105. [9] Yoneda Y, Haginoya K, Arai H, et al. De novo and inherited mutations in COL4A2, encoding the type Ⅳ collagen α2 chain cause porencephaly[J]. Am J Hum Genet, 2012, 90(1): 86-90. [10] Subramanian VS, Constantinescu AR, Benke PJ, et al. Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child[J]. Hum Genet, 2017, 136(2): 253-261. [11] Li N, Zhou P, Tang H, et al. In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy[J]. Brain, 2022, 145(1): 119-141. [12] Wixey JA, Chand KK, Colditz PB, et al. Review: Neuroinflammation in intrauterine growth restriction[J]. Placenta, 2017, 54: 117-124. [13] Blair EM, Nelson KB. Fetal growth restriction and risk of cerebral palsy in singletons born after at least 35 weeks gestation[J]. Am J Obstet Gynecol, 2015, 212(4): 520. e1-520. e7. [14] Wan L, Luo K, Chen P. Mechanisms underlying neurologic injury in intrauterine growth restriction[J]. J Child Neurol, 2021, 36(9): 776-784. [15] Wiszniewski W, Gawlinski P, Gambin T, et al. Comprehensive genomic analysis of patients with disorders of cerebral cortical development[J]. Eur J Hum Genet, 2018, 26(8): 1121-1131. [16] Papaioannou G, Garel C. The fetal brain: Migration and gyration anomalies - pre- and postnatal correlations[J]. Pediatr Radiol, 2023, 53(4): 589-601. [17] Wiszniewski W, Gawlinski P, Gambin T, et al. Comprehensive genomic analysis of patients with disorders of cerebral cortical development[J]. Eur J Hum Genet, 2018, 26(8): 1121-1131. [18] Mangamba DCK, Enyama D, Foko LPK, et al. Epidemiological, clinical, and treatment-related features of children with cerebral palsy in Cameroon: A hospital-based study[J]. Arch Pediatr, 2022, 29(3): 219-224. [19] Chaudhary S, Bhatta NK, Poudel P, et al. Profile of children with cerebral palsy at a tertiary hospital in eastern Nepal[J]. BMC Pediatr, 2022, 22(1): 415. [20] Brégère C, Schwendele B, Radanovic B, et al. Microglia and atem-cell mediated neuroprotection after neonatal hypoxia-ischemia[J]. Stem Cell Rev Rep, 2022, 18(2): 474-522. [21] Marefi A, Husein N, Dunbar M, et al. Risk factors for term-born periventricular white matter injury in children with cerebral palsy: A case-control study[J]. Neurology, 2022, 99(22): e2485-e2493. [22] Zaghloul N, Kurepa D, Bader MY, et al. Prophylactic inhibition of NF-κB expression in microglia leads to attenuation of hypoxic ischemic injury of the immature brain[J]. J Neuroinflammation, 2020, 17(1): 365. [23] Tu YF, Wang ST, Shih HI, et al. Epilepsy occurrence after neonatal morbidities in very preterm infants[J]. Epilepsia, 2019, 60(10): 2086-2094. [24] Shang Q, Ma CY, Lv N, et al. Clinical study of cerebral palsy in 408 children with periventricular leukomalacia[J]. Exp Ther Med, 2015, 9(4): 1336-1344. [25] Gonzalez FF, Ferriero DM. Neuroprotection in the newborn infant[J]. Clin Perinatol, 2009, 36(4): 859-880. [26] Guo X, Tang P, Zhang L, et al. Mendelian randomization approach shows no causal effects of gestational age on epilepsy in offspring[J]. Epilepsy Res, 2023, 191: 107102. [27] Karatoprak E, Szen G, Saltk S. Risk factors associated with epilepsy development in children with cerebral palsy[J]. Childs Nerv Syst, 2019, 35(7): 1181-1187. [28] Nyman J, Mikkonen K, Metsranta M, et al. Poor aEEG background recovery after perinatal hypoxic ischemic encephalopathy predicts postneonatal epilepsy by age 4 years[J]. Clin Neurophysiol, 2022, 143: 116-123. [29] Novak CM, Ozen M, Burd I. Perinatal brain injury: Mechanisms, prevention, and outcomes[J]. Clin Perinatol, 2018, 45(2): 357-375. [30] Kukec E, Goričar K, Dolan V, et al. HIF1A polymorphisms do not modify the risk of epilepsy nor cerebral palsy after neonatal hypoxic-ischemic encephalopathy[J]. Brain Res, 2021, 1757: 147281. [31] Tam EWY, Widjaja E, Blaser SI, et al. Occipital lobe injury and corticalvisual outcomes after neonatal hypoglycemia[J]. Pediatrics, 2008, 122: 507-512. [32] Kapoor D, Sidharth, Sharma S, et al. Electroclinical spectrum of childhood epilepsy secondary to neonatal hypoglycemic brain injury in a low resource setting: A 10-year experience[J]. Seizure, 2020, 79: 90-94. [33] 蔡小兰, 孙群英. 儿童脑性瘫痪的病因研究进展[J]. 山东医药, 2020, 60(32): 104-107. Cai XL, Sun QY. Research progress on the etiology of cerebral palsy in children[J]. Shandong Med, 2020, 60 (32): 104-107.(in Chinese) [34] Zhang L. Severe neonatal hyperbilirubinemia induces temporal and occipital lobe seizures[J]. PLoS One, 2018, 13(5): e0197113. [35] Dunbar M, Kirton A. Perinatal stroke: Mechanisms, management, and outcomes of early cerebrovascular brain injury[J]. Lancet Child Adolesc Health, 2018, 2(9): 666-676. [36] Shellhaas RA, Chang T, Wusthoff CJ, et al. Treatment duration after acute symptomatic seizures in neonates: A multicenter cohort study[J]. J Pediatr, 2017, 181: 298-301. [37] Suppiej A, Mastrangelo M, Mastella L, et al. Pediatric epilepsy following neonatal seizures symptomatic of stroke[J]. Brain Dev, 2016, 38(1): 27-31. [38] Fox CK, Mackay MT, Dowling MM, et al. Prolonged or recurrent acute seizures after pediatric arterial ischemic stroke are associated with increasing epilepsy risk[J]. Dev Med Child Neurol, 2017, 59(1): 38-44. [39] Vojcek E, Jermendy A, Laszlo AM, et al. The role of brain territorial involvement and infection/inflammation in the long-term outcome of neonates with arterial ischemic stroke: A population-based cohort study[J]. Early Hum Dev, 2021, 158: 105393. [40] Guiraut C, Cauchon N, Lepage M, et al. Perinatal arterial ischemic stroke is associated to materno-fetal immune activation and intracranial arteritis[J]. Int J Mol Sci, 2016, 17(12): 1980. [41] 张萌, 王兰桂. 癫痫发病机制的研究进展[J]. 中西医结合心血管病电子杂志, 2020, 8(35): 31-32. Zhang M, Wang LG. Research progress in the pathogenesis of epilepsy[J]. Cardiovascular Disease Journal of Integrated Traditional Chinese and Western Medicinel(Electonic), 2020, 8(35): 31-32.(in Chinese) [42] Yulianti R, Gunawan PI, Saharso D. Comparison of clinical characteristics and neuroimaging of cerebral palsy with and without epilepsy in children[J]. Indian J Forensic Med Toxicol, 2021, 15(1): 1442-1450. [43] Zareen Z, Strickland T, Fallah L, et al. Cytokine dysregulation in children with cerebral palsy[J]. Dev Med Child Neurol, 2021, 63(4): 407-412. [44] Vezzani A, Balosso S, Ravizza T. The role of cytokines in the pathophysiology of epilepsy[J]. Brain Behav Immun, 2008, 22(6): 797-803. [45] Wu Q, Wang H, Liu X, et al. Microglial activation and over pruning involved in developmental epilepsy[J]. J Neuropathol Exp Neurol, 2023, 82(2): 150-159. [46] Khan D, Bedner P, Müller J, et al. TGF-β Activated Kinase 1 (TAK1) is activated in microglia after experimental epilepsy and contributes to epileptogenesis[J]. Mol Neurobiol, 2023, 60(6): 3413-3422. [47] 王钦宇. TAK1调节神经免疫微环境和神经元凋亡在脑瘫疾病模型中的作用及机制研究[D]. 南通:南通大学, 2021. Wang QY. The role and mechanism of TAK1 in regulating neuroimmune microenvironment and neuronal apoptosis in cerebral palsy disease model[D]. Nantong:Nantong Univ, 2021.(in Chinese) [48] Banote RK, Akel S, Zelano J. Blood biomarkers in epilepsy[J]. Acta Neurol Scand, 2022, 146(4): 362-368. [49] Kaur C, Sivakumar V, Ang LS, et al. Hypoxic damage to the periventricular white matter in neonatal brain: Role of vascular endothelial growth factor, nitric oxide and excitotoxicity[J]. J Neurochem, 2006, 98(4): 1200-1216. [50] Lin CY, Chang YC, Wang ST, et al. Altered inflammatory responses in preterm children with cerebral palsy[J]. Ann Neurol, 2010, 68(2): 204-212. [51] McAdams RM, Juul SE. The role of cytokines and inflammatory cells in perinatal brain injury[J]. Neurol Res Int, 2012, 2012: 561494. [52] Wu J, Li X. Plasma tumor necrosis factor-alpha (TNF-α) levels correlate with disease severity in spastic diplegia, triplegia, and quadriplegia in children with cerebral Palsy[J]. Med Sci Monit, 2015, 21: 3868-3874. [53] 刘洪俊. IL-6、IL-10和TNF-α参与脑性瘫痪患儿脑损伤的相关性研究[D].新乡:新乡医学院, 2017. Liu HJ. Correlation study of IL-6, IL-10 and TNF-α involved in brain injury in children with cerebral palsy[D]. Xinxiang:Xinxiang Med Univ, 2017.(in Chinese) [54] Wang B, Wang F, Wu D, et al. Relationship between TNF-α and the risk of cerebral palsy: A systematic review and meta-analysis[J]. Front Neurol, 2022, 13: 929280. [55] Fleiss B, Gressens P. Tertiary mechanisms of brain damage: A new hope for treatment of cerebral palsy[J]. Lancet Neurol, 2012, 11(6): 556-566. [56] Mor O, Stavsky M, Yitshak-Sade M, et al. Early onset preeclampsia and cerebral palsy:A double hit model[J]. Am J Obstet Gynecol, 2016, 214(1): 105.e1-9. [57] Wan L, Luo K, Chen P. Mechanisms underlying neurologic injury in intrauterine growth restriction[J]. J Child Neurol, 2021, 36(9): 776-784. [58] Moore KW, de Waal Malefyt R, Coffman RL, et al. Interleukin-10 and the interleukin-10 receptor[J]. Annu Rev Immunol, 2001, 19: 683-765. [59] 逯军, 潘翔, 陈伟, 等. 102例不明原因脑瘫患儿线粒体基因变异筛查[J]. 中国热带医学, 2020, 20(9): 839-842,848. Lu J, Pan X, Chen W, et al. Screening of mitochondrial genetic variation in 102 children with unexplained cerebral palsy[J]. Chin Tropical Med, 2020, 20(9): 839-842,848.(in Chinese) [60] Rodriguez J, Li T, Xu Y, et al. Role of apoptosis-inducing factor in perinatal hypoxic-ischemic brain injury[J]. Neural Regen Res, 2021, 16(2): 205-213. [61] Dayanidhi S, Buckner EH, Redmond RS, et al. Skeletal muscle maximal mitochondrial activity in ambulatory children with cerebral palsy[J]. Dev Med Child Neurol, 2021, 63(10): 1194-1203. [62] Sen A, Gurdziel K, Liu J, et al. Smooth, an hnRNP-L homolog, might decrease mitochondrial metabolism by post-transcriptional regulation of isocitrate dehydrogenase (Idh) and other metabolic genes in the sub-acute phase of traumatic brain injury[J]. Front Genet, 2017, 8: 175. [63] Pingel J, Vandenrijt J, Kampmann ML, et al. Altered gene expression levels of genes related to muscle function in adults with cerebral palsy[J]. Tissue Cell, 2022, 76: 10174. [64] Aycicek A, Iscan A. Oxidative and antioxidative capacity in children with cerebral palsy[J]. Brain Res Bull, 2006, 69(6): 666-668. [65] 杨海燕, 吴丽文. 线粒体功能障碍与癫痫发病机制[J]. 中风与神经疾病杂志, 2018, 35(8): 766-768. Yang HY, Wu LW. Mitochondrial dysfunction and pathogenesis of epilepsy[J]. J Apoplexy Nerv Dis, 2018, 35(8): 766-768.(in Chinese) |
[1] | LIU Jiahao, GUO Jin, GONG Chao, FANG Liya, LIAN Beibei, LI Jiawei, LIU Yuanyuan. Research progress of comorbidity urinary incontinence in children with cerebral palsy [J]. Chinese Journal of Child Health Care, 2024, 32(7): 772-777. |
[2] | GAO Funing, TANG Jian, CHEN Wenxiang, ZHANG Lei, ZHU Min. Study on the development of foot arch and rehabilitation treatment plan for children with spastic diplegia in cerebral palsy gross motor function classification system grade Ⅰ-Ⅱ [J]. Chinese Journal of Child Health Care, 2024, 32(5): 484-490. |
[3] | LIU Jiahao, GONG Chao, LIAN Beibei, GUO Jin. Etiology and intervention measures of comorbid fracture in children with cerebral palsy [J]. Chinese Journal of Child Health Care, 2024, 32(5): 511-515. |
[4] | LIU Fang, YUN Guojun, HUANG Meihuan, GUO Yingying, ZHAO Xin. Application of proprioceptive assessment in children with cerebral palsy [J]. Chinese Journal of Child Health Care, 2024, 32(5): 534-537. |
[5] | ZAI Weiyi, XU Ning, WU Wei, WANG Yueying. Network Meta-analysis of the effect of different rehabilitation therapies on improving motor dysfunction in children with spastic cerebral palsy [J]. Chinese Journal of Child Health Care, 2024, 32(5): 543-551. |
[6] | XU Yanhong, LI Hong, CHEN Jing, XU Jinbo, DING Hao. Influencing factors for malnutrition in children with cerebral palsy [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1266-1270. |
[7] | ZHENG Jie, CHEN Yanhui. Research advance in the role of gut microbiota in attention deficit hyperactivity disorder [J]. Chinese Journal of Child Health Care, 2023, 31(9): 986-989. |
[8] | LI Weiwei, ZHANG Dandan, LIU Xiaoming, CHEN Jiao, XIA Lu. Application of long-term management mode based on Internet technology in children with intractable epilepsy [J]. Chinese Journal of Child Health Care, 2023, 31(7): 781-784. |
[9] | ZHONG Chen>, HU Shanshan>, ZHANG Hengshuo>, ZHANG Cui>, YAO Chuanlei>, SONG Qipeng>. Effect of aquatic motor therapy combined with routine rehabilitation therapy on motor function among children with spastic cerebral palsy [J]. Chinese Journal of Child Health Care, 2023, 31(5): 486-490. |
[10] | WANG Man, XIAO Yingying, ZHANG Yuanyuan, ZHANG Lixin. Effect of whole body vibration training on fine motor ability of children with cerebral palsy with the assistance of digital OT system [J]. Chinese Journal of Child Health Care, 2023, 31(5): 491-496. |
[11] | YANG Tingting>, LI Xin>, YU Xinlu>, ZHANG Bo>, PANG Wei>. Systematic review of the effects of motion sensing game on upper limb function in children with cerebral palsy [J]. Chinese Journal of Child Health Care, 2023, 31(5): 535-540. |
[12] | LIU Jin>, ZHANG Fang>, WANG Jianzhong>. Correlation of serum 25-(OH)D level with calf skeletal muscle development and gross motor function measure score in children with cerebral palsy [J]. Chinese Journal of Child Health Care, 2023, 31(5): 541-545. |
[13] | YU Wei-hong, PAN Yue-rong, NIAN Shi-cui, YU Zu-lin. Status quo and influencing factors of emotional behavior problems in children with epilepsy [J]. Chinese Journal of Child Health Care, 2023, 31(2): 210-214. |
[14] | FAN Tao-lin, LIU Jie, HE Chen, TAN Ling-hui, LI You, XIAO Xi-hui, JIANG Can. Effects of action observation therapy based on mirror neuron theory on the balance and walking ability of children with cerebral palsy [J]. Chinese Journal of Child Health Care, 2023, 31(2): 220-224. |
[15] | CUI Hong. Premature infants need to be vigilant about spastic cerebral palsy [J]. Chinese Journal of Child Health Care, 2023, 31(11): 1165-1167. |
Viewed | ||||||
Full text |
|
|||||
Abstract |
|
|||||