AN ANALYSIS OF AUTISM IN 50 MALES WITH THE FRAGILE-X SYNDROME
AN ANALYSIS OF AUTISM IN 50 MALES WITH THE FRAGILE-X SYNDROME
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DOI：
10.1002/ajmg.1320230128
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发表时间：
1986-01-01
期刊：
影响因子：
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通讯作者：
BRADEN, M
中科院分区：
文献类型：
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作者：
HAGERMAN, RJ;JACKSON, AW;BRADEN, M
通过对发育迟缓或智力迟钝患者的染色体分析以及已知 fra(X) 家系的家族研究，确定了 50 名患有脆性 X [fra(X)] 综合征的男性，我们认为这种综合征与马丁-贝尔综合征同义。使用三个标准对这些男性进行自闭症评估：（1）DSM III 婴儿自闭症诊断标准； 2）自闭症行为检查表（ABC）； 3) 行为障碍儿童诊断检查表，表格 E2。 16% 的患者满足所有 DSM III 婴儿自闭症标准，另外 30% 的患者满足婴儿自闭症残留状态标准。根据 ABC 检查表，31% 的患者患有自闭症，但没有一个患者符合 E2 问卷所述的经典坎纳综合征。几乎所有 50 名 fra(X) 患者都存在一些自闭症特征，包括 90% 的人回避目光，88% 的人拍手、咬手或手部定型，96% 的人存在具有语言特殊性的语言迟缓，通常是回声式言语。 18% 的现龄儿童和 44% 的儿童早期普遍缺乏反应能力。自闭症症状在 fra(X) 综合征中很常见。因此，任何患有发育迟缓和自闭症或自闭症表现的患者都应该进行染色体分析，包括fra(X)检查。
Fifty males with the fragile X [fra(X)] syndrome, which we consider synonymous with the Martin‐Bell syndrome, were identified by a chromosome analysis of patients with developmental delays or mental retardation and family studies of known fra(X) pedigrees. These males were evaluated for autism using three criteria: (1) the DSM III diagnostic criteria for Infanti, Autism; 2) the Autism Behavior Checklist (ABC); and 3) the Diagnostic Checklist for Behavior Disturbed Children, Form E2. Sixteen percent of patients fulfilled all of the DSM III criteria for Infantile Autism and an additional 30% fulfilled criteria for Infantile Autism Residual State. Thirty‐one percent of patients had autism using the ABC checklist but none of the patients fit the classical Kanner syndrome as described by the E2 questionnaire. Some autistic traits were seen in almost all of the 50 fra(X) patients, including eye avoidance in 90%, handflapping, handbiting or handstereotypies in 88%, and language delays with language peculiarities, usually echolalic speech, in 96%. A pervasive lack of responsiveness was seen in 18% at their present age and in 44% in earlier childhood only.Autistic symptoms are common in the fra(X) syndrome. Therefore, any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fra(X) examination.