Suppr超能文献

[自闭症与脆性X综合征患儿]

[Autism and children with Fragile X syndrome].

作者信息

Blanc D S, D'Angelo J, Lecavelier des Etangs N

机构信息

Hôpital de Saint-Jean Bonnefonds, CHRU de Saint-Etienne.

出版信息

Ann Pediatr (Paris). 1993 Nov;40(9):565-72.

PMID:8279804
Abstract

Many epidemiological studies have demonstrated the exceptionally high incidence of autism in children with the fragile X syndrome, and autism is often considered a "behavioral phenotype" of this syndrome. However, the discrepancies between the results of these studies disclosed strong effects of methodological flaws and demonstrated the need for gathering clinical data. Atypical "autistic-like" behaviors were then found to be common, early symptoms of the syndrome occurring against the background of early manifestations of mental retardation. These behaviors reflect these children's exquisite reactivity to change and contact with others. Avoidance of eye contact is the most significant feature. The appropriate diagnosis is not autism but phobia of social relationships. This highly specific vulnerability, which may be inherited, probably leads some of these patients to experience the fate of autistic children. It highlights the influence of environment on the clinical course and indirectly supports the role of early specialized care.

摘要

许多流行病学研究表明,脆性X综合征患儿患自闭症的几率极高,自闭症常被视为该综合征的一种“行为表型”。然而,这些研究结果之间的差异揭示了方法学缺陷的强大影响,并表明需要收集临床数据。随后发现,非典型的“类自闭症”行为是该综合征常见的早期症状,出现在智力发育迟缓早期表现的背景下。这些行为反映了这些儿童对变化以及与他人接触的极度敏感。避免眼神接触是最显著的特征。正确的诊断不是自闭症,而是社交关系恐惧症。这种高度特异性的易感性可能是遗传的,可能导致其中一些患者遭遇自闭症儿童的命运。这凸显了环境对临床病程的影响,并间接支持了早期专科护理的作用。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验