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22q11缺失综合征患儿及青少年的残疾与认知

Disabilities and cognition in children and adolescents with 22q11 deletion syndrome.

作者信息

Oskarsdóttir S, Belfrage M, Sandstedt E, Viggedal G, Uvebrant P

机构信息

The Queen Silvia Children's Hospital, Department of Paediatrics, Sahlgrenska Academy at Göteborg University, SE-416 85 Göteborg, Sweden.

出版信息

Dev Med Child Neurol. 2005 Mar;47(3):177-84. doi: 10.1017/s0012162205000320.

Abstract

The purpose of this study was to investigate cognitive and other disabilities in children and adolescents with 22q11 deletion syndrome. Thirty-three children (15 females, 18 males; age range 3 to 19y, median 7y 6mo) with 22q11 deletion were investigated for growth, development, neurology, cognition, motor function, and participation (measured as handicap**). Half of the children had never crawled, although they had shuffled, and commencement of walking was delayed (mean 18mo, SD 6mo). Hypotonia was found in 25 and poor balance in 24 of the 33 children; 17 out of 27 had definite motor problems, including two with spastic hemiplegia. Intelligence quotient (IQ) range was 50 to 100. Eleven patients had an IQ below 70, and 15 between 70 and 84. Verbal IQ was higher than Performance IQ. Level of handicap within the study group was considered moderate, and all but one child had extra support at school. We conclude that children with 22q11 deletion syndrome have multiple neurological, motor, and cognitive problems. Although the severity and number of problems varies, the combination of impairments and disabilities results in a low level of participation.

摘要

本研究的目的是调查患有22q11缺失综合征的儿童和青少年的认知及其他残疾情况。对33名患有22q11缺失的儿童(15名女性,18名男性;年龄范围3至19岁,中位数7岁6个月)进行了生长、发育、神经学、认知、运动功能和参与度(以残疾**衡量)方面的调查。一半的儿童从未爬行过,尽管他们有拖着脚走的情况,而且开始走路的时间延迟(平均18个月,标准差6个月)。33名儿童中有25名存在肌张力低下,24名存在平衡能力差的问题;27名中有17名有明确的运动问题,包括两名患有痉挛性偏瘫。智商(IQ)范围为50至100。11名患者的智商低于70,15名在70至84之间。言语智商高于操作智商。研究组内的残疾程度被认为是中度,除一名儿童外,所有儿童在学校都得到了额外的支持。我们得出结论,患有22q11缺失综合征的儿童存在多种神经学、运动和认知问题。尽管问题的严重程度和数量各不相同,但损伤和残疾的综合导致了参与度较低。

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