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脆性X综合征。通往行为表型之路。

The fragile-X syndrome. On the way to a behavioural phenotype.

作者信息

Turk J

机构信息

Academic Department of Child Psychiatry, Institute of Child Health, London.

出版信息

Br J Psychiatry. 1992 Jan;160:24-35. doi: 10.1192/bjp.160.1.24.

DOI:10.1192/bjp.160.1.24
PMID:1544010
Abstract

The fragile-X syndrome accounts for up to 10% of individuals with mental handicap, and 50% of cases of X-linked mental retardation. Knowledge of the genetic basis of mental functioning, psychopathology, and neuropsychology is being furthered by this recently recognised condition. The disorder has considerable significance for psychiatrists, particularly, but by no means exclusively, those working in the field of mental handicap and with children. This review outlines the slow clarification of this complex and important behavioural phenotype and the implications of these advances for identification, diagnosis, genetic counselling and a wide range of management interventions.

摘要

脆性X综合征占智力障碍个体的比例高达10%,占X连锁智力迟钝病例的50%。这种最近才被认识到的病症正在推动人们对心理功能、精神病理学和神经心理学的遗传基础的认识。该病症对精神科医生具有相当重要的意义,尤其是(但绝不仅限于)那些从事智力障碍领域工作和与儿童打交道的医生。这篇综述概述了对这种复杂且重要的行为表型的逐步澄清,以及这些进展对识别、诊断、遗传咨询和广泛的管理干预措施的影响。

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The fragile-X syndrome. On the way to a behavioural phenotype.脆性X综合征。通往行为表型之路。
Br J Psychiatry. 1992 Jan;160:24-35. doi: 10.1192/bjp.160.1.24.
2
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引用本文的文献

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Do Children With Fragile X Syndrome Show Declines or Plateaus in Adaptive Behavior?脆性X综合征患儿的适应性行为会出现下降或停滞吗?
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Prefrontal social cognition network dysfunction underlying face encoding and social anxiety in fragile X syndrome.脆性X综合征中面部编码和社交焦虑背后的前额叶社会认知网络功能障碍。
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Behavioral assessment of social anxiety in females with Turner or fragile X syndrome.特纳综合征或脆性X综合征女性社交焦虑的行为评估
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