4例全面发育迟缓伴特征性脑电图异常患儿的临床分析

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Abstract Objective To analyze the clinical characteristics and etiology of children with comprehensive developmental delay and characteristic EEG abnormalities. Methods From January 2018 to September 2019，4 cases of children with developmental retardation/mental disability were diagnosed by video EEG examination in the Department of Pediatric Rehabilitation，Foshan Maternal and Child Health Hospital Affiliated to Southern Medical University. The characteristics were retrospectively analyzed，and the results of auxiliary examinations such as Gesell Development Diagnostic Scale and genetic examination were summarized and analyzed. Results The children′s age at the first diagnosis was 6-21 months，and there were no definite abnormalities in the birth history and family history. All children were diagnosed with ＂developmental backwardness＂ as the first reason. Gesell′s Developmental Diagnostic Scale showed that there were various degrees of developmental delay in each energy zone. Three children had hypopigmentation of the skin，and 2 cases had frequent laughter and hyperactivity，and neither had epilepsy or febrile seizures. All children′s electroencephalograms had characteristic manifestations. Among them，3 cases mainly showed that the front head was markedly rhythmic high-very high amplitude delta wave burst or continuous distribution，with posterior head rhythmic spike slow wave distribution. One case mainly exhibited extensive high-amplitude 4-6 Hz θ activity. Methylation-specific multiple ligation-dependent probe amplification detection results showed that 3 children had 15q11-13 maternal fragments missing，1 patient had 15q11-13 paternal diploid，and finally diagnosed Angelman syndrome. Conclusion The early clinical manifestations of children with Angelman syndrome lack specificity or are easily overlooked. For children with unexplained stunting/mental disability，even if there is no convulsions，routine EEG examination is recommended. The EEG of children with Angelman syndrome has certain characteristics，which can provide clues for early diagnosis and guide further genetic examination to confirm the diagnosis.

Key words： Global developmental delay Intellectual disability Characteristic electroencephalogram pattern Angelman syndrome

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	Articles by authors
	WAN Rui-ping
	WU Ben-ze
	LIU Zhi-gang
	DONG Shi-wei
	HUANG Xiao-fei

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WAN Rui-ping,WU Ben-ze,LIU Zhi-gang, et al. Clinical analysis of 4 cases of children with global developmental delay and characteristic electroencephalogram pattern[J]. 中国当代医药, 2020, 27(18): 9-12.

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http://dangdaiyiyao.com/EN/ OR http://dangdaiyiyao.com/EN/Y2020/V27/I18/9

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