儿童孤独症谱系障碍共患癫痫的诊治及管理
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摘要
虽然儿童孤独症谱系障碍(ASD)共患癫痫现象已被识别多年,但二者之间的相互联系的确切机制尚不清楚。癫痫对ASD儿童精神行为影响研究尚少,但有较多的发育、社交沟通及自我照顾能力困难的倾向。需行治疗前综合性评估,包括病因学调查,及认知、语言、情感、社交及行为功能等评估。主要基于心理社会干预结合药物治疗。根据癫痫类型和药物耐受性,兼顾药物行为学副作用选择抗癫痫药。ASD患儿类似癫痫样发作行为常见,需仔细鉴别。疑似癫痫发作,应及时诊疗或转介。有证据显示ASD共患癫痫的难治性和死亡率增加。加强多学科交流是提高ASD共患癫痫早期识别及长程管理的重要环节。
Although comorbidity between autism spectrum disorder(ASD) and epilepsy has been recognized for several years, the exact mechanism of the interaction is still not clear.There are few studies on the impact of epilepsy on mental and behavioral disorders in ASD children, but it is reported that ASD children comorbid with epilepsy are prone to having difficulty in growth and development, social communication as well as self-care.So it is required to give comprehensive assessment before treatment, including etiological investigation, cognitive, linguistic, emotional, social and behavioral functions.And the treatment is mainly based on psychosocial intervention combined with drugs.Antiepileptic drugs are selected according to the type of epilepsy and drug tolerance, taking into account the behavioral side effects of drugs.Seizures-like behaviors are common in children with ASD and need to be carefully identified.Suspected epileptic seizures should be promptly diagnosed and treated or referred.There is some evidence that ASD is associated with increasing refractory epilepsy and mortality.Therefore, strengthening multidisciplinary communication is an important link to improve the early identification and long-term management of ASD comorbidity epilepsy.
Although comorbidity between autism spectrum disorder(ASD) and epilepsy has been recognized for several years, the exact mechanism of the interaction is still not clear.There are few studies on the impact of epilepsy on mental and behavioral disorders in ASD children, but it is reported that ASD children comorbid with epilepsy are prone to having difficulty in growth and development, social communication as well as self-care.So it is required to give comprehensive assessment before treatment, including etiological investigation, cognitive, linguistic, emotional, social and behavioral functions.And the treatment is mainly based on psychosocial intervention combined with drugs.Antiepileptic drugs are selected according to the type of epilepsy and drug tolerance, taking into account the behavioral side effects of drugs.Seizures-like behaviors are common in children with ASD and need to be carefully identified.Suspected epileptic seizures should be promptly diagnosed and treated or referred.There is some evidence that ASD is associated with increasing refractory epilepsy and mortality.Therefore, strengthening multidisciplinary communication is an important link to improve the early identification and long-term management of ASD comorbidity epilepsy.
引文
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[28] 中华医学会儿科学分会发育行为学组,中国医师协会儿科分会儿童保健专业委员会,儿童孤独症诊断与防治技术和标准研究项目专家组.孤独症谱系障碍儿童早期识别筛查和早期干预专家共识[J].中华儿科杂志, 2017, 12, 55(12):890-897.
[29] Chen WX, Yang SD, Gao YY, et al.Landau-Kleffner Syndrome: an unusual case with progressive ataxia prior to language regression and autistic-like behaviors[J].Neuropsychiatry,2019,9(1):2076-2085.
[30] 陈文雄, 杨思达, 高媛媛,等.重症病毒性脑炎患儿非惊厥性癫持续状态9例临床分析[J].中国循证儿科杂志,2015,10(4):275-280.
[31] Filipek PA, Accardo PJ, Ashwal S, et al.Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society[J].Neurology,2000,55:468-479.
[32] 中国抗癫痫协会共患病专业委员会.儿童癫痫共患孤独症谱系障碍诊断治疗的中国专家共识[J].癫痫杂志,2019,5(1):3-10.
[33] 陈文雄.发育行为障碍的早期识别[J].教育生物学杂志,2014, 2(1):10-15.
[2] Zablotsky B, Black LI, Maenner MJ, et al.Estimated prevalence of autism and other developmental disabilities following questionnaire changes in the 2014 National Health Interview Survey[J].Natl Health Stat Rep,2015,13(87):1-20.
[3] 刘贤,林穗方,陈文雄,等.中国孤独症谱系障碍患病率Meta分析[J].中国儿童保健杂志, 2018, 26(4):280-285.
[4] Engel JJ.ILAE classification of epilepsy syndromes[J].Epilepsy Res,2006,70(Suppl 1): 5-10.
[5] Jensen FE.Epilepsy as a spectrum disorder: implications from novel clinical and basic neuroscience[J].Epilepsia,2011,52 (Suppl 1):1-6.
[6] Russ S, Larson K, Halfon N.A national profile of childhood epilepsy and seizure disorder[J].Pediatrics,2012,129(2):256-264.
[7] 陈文雄.孤独症70年:从Kanner到DSM-Ⅴ[J].临床儿科杂志,2013, 31(11):1001-1004.
[8] Amiet C, Gourfinkel-An I, Laurent C, et al.Epilepsy in simplex autism pedigrees is much lower than the rate in multiplex autism pedigrees[J].Biol Psychiatry, 2013,74:e3-4.
[9] Amiet C, Gourfinkel-An I, Bouzamondo A, et al.Epilepsy in autismis associated with intellectual disability and gender: evidence from a meta-analysis[J].Biol Psychiatry, 2008,64:577-582.
[10] Woolfenden S, Sarkozy V, Ridley G, et al.A systematic review of two outcomes in autism spectrum disorder-epilepsy and mortality[J].Dev Med Child Neurol,2012,54(4):306-312.
[11] Achkar CME, Spence SJ.Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy[J].Epilepsy Behav,2015,47:183-190.
[12] Klein P, van Passel-ClarkLM, Pezzullo JC.Onset of epilepsy at the time of menarche[J].Neurology,2003,60(3):495-497.
[13] Strasser L,Downes M,Kung J,et al.Prevalence and risk factors for autism spectrum disorder in epilepsy: a systematic review and meta-analysis[J].Dev Med Child Neurol,2018,60(1):19-29.
[14] Lee BH,Smith T,Paciorkowski AR.Autism spectrum disorder and epilepsy: disorders with a shared biology[J].Epilepsy Behav,2015,47:191-201.
[15] Blackmon K.Structural MRI biomarkers of shared pathogenesis in autism spectrum disorder and epilepsy[J].Epilepsy Behav,2015,47:172-182.
[16] Sasaki M.SPECT findings in autism spectrum disorders and medically refractory seizures[J].Epilepsy Behav,2015,47:167-171.
[17] Casanova MF,Buxhovenden D, Gomez J.Disruption in the inhibitory architecture of the cell minicolumn: implications for autism[J].Neuroscientist,2003,9(6):496-507.
[18] Jeste SS, Wu JY, Senturk D,et al.Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex[J].Neurology,2014,83:160-168.
[19] Keller R,Basta R,Salerno L,et al.Autism, epilepsy, and synaptopathies: a not rare association[J].Neurol Sci,2017,38(8):1353-1361.
[20] Brooks-Kayal A.Epilepsy and autism spectrum disorders: are there common developmental mechanisms?[J].Brain Dev,2010,32:731-738.
[21] Besag FM.Current controversies in the relationships between autism and epilepsy[J].Epilepsy Behav,2015,47:143-146.
[22] Consortium B, Anttila V, Bulik-Sullivan B, et al.Analysis of shared heritability in common disorders of the brain[J].Science,2018,360(6395).doi: 10.1126/science.aap8757
[23] Berg AT, Plioplys S.Epilepsy and autism: is there a special relationship?[J].Epilepsy Behav, 2012,23(3):193-198.
[24] Robinson S.Childhood epilepsy and autism spectrum disorders: Psychiatric problems, phenotypic expression, and anticonvulsants[J].Neuroppsychol Rev,2012,22:271-279.
[25] 王秀英,陈文雄,张凤琼,等.自闭症儿童脑电图特点及频带功率分析[J].癫痫与神经电生理学杂志,2013, 22(4): 226-229.
[26] Barger BD, Campbell JM, McDonough JD.Prevalence and onset of regression within autism spectrum disorders: a meta-analytic review[J].J Autism Dev Disord,2013,43(4):817-828.
[27] Matson JL,Neal D, Hess JA, et al.The effect of The effect of seizure disorder on symptom presentation in atypically developing children and children with autism spectrum disorders based on the BDI-2[J].Dev Neurorehabil,2010,13(5):310-313.
[28] 中华医学会儿科学分会发育行为学组,中国医师协会儿科分会儿童保健专业委员会,儿童孤独症诊断与防治技术和标准研究项目专家组.孤独症谱系障碍儿童早期识别筛查和早期干预专家共识[J].中华儿科杂志, 2017, 12, 55(12):890-897.
[29] Chen WX, Yang SD, Gao YY, et al.Landau-Kleffner Syndrome: an unusual case with progressive ataxia prior to language regression and autistic-like behaviors[J].Neuropsychiatry,2019,9(1):2076-2085.
[30] 陈文雄, 杨思达, 高媛媛,等.重症病毒性脑炎患儿非惊厥性癫持续状态9例临床分析[J].中国循证儿科杂志,2015,10(4):275-280.
[31] Filipek PA, Accardo PJ, Ashwal S, et al.Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society[J].Neurology,2000,55:468-479.
[32] 中国抗癫痫协会共患病专业委员会.儿童癫痫共患孤独症谱系障碍诊断治疗的中国专家共识[J].癫痫杂志,2019,5(1):3-10.
[33] 陈文雄.发育行为障碍的早期识别[J].教育生物学杂志,2014, 2(1):10-15.