Turk J
Academic Department of Child Psychiatry, Institute of Child Health, London.
Br J Psychiatry. 1992 Jan;160:24-35. doi: 10.1192/bjp.160.1.24.
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.
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。