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[脆性X综合征女童:特定发育障碍的一个模型]

[Girls with fragile X syndrome: a model for specific developmental disorders].

作者信息

Ferrando-Lucas M T, Puente-Ferreras A

机构信息

Servicio de Neuropediatría, Hospital Quirón.

出版信息

Rev Neurol. 2008;46 Suppl 1:S17-9.

Abstract

INTRODUCTION AND DEVELOPMENT

The prevalence of specific developmental disorders (SDD) in everyday practice is high, and an interdisciplinary approach is required for their diagnosis and management. The ultimate pathophysiology of these disorders remains a great challenge to researchers and progress is limited by the fact that there are no experimental models that reproduce the cognitive-behavioural complexity of the human being.

CONCLUSIONS

Girls with fragile X syndrome, which has a wide range of cognitive-behavioural signs and symptoms that allow the clinical features of SDD to coincide in the same person, in whom the intellectual quotient is preserved and for whom our present knowledge of the syndrome does offer pathophysiological structural bases in the central nervous system, may constitute a valuable model to help us understand SDD.

摘要

引言与发展

在日常临床实践中,特定发育障碍(SDD)的患病率很高,其诊断和管理需要采用跨学科方法。这些障碍的最终病理生理学对研究人员来说仍然是一个巨大挑战,由于缺乏能够重现人类认知行为复杂性的实验模型,进展有限。

结论

脆性X综合征女孩具有广泛的认知行为体征和症状,使得SDD的临床特征在同一人身上同时出现,其智商保持正常,且就我们目前对该综合征的了解而言,确实在中枢神经系统中提供了病理生理结构基础,她们可能构成一个有价值的模型,有助于我们理解SDD。

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