Fragile X syndrome
Fragile X syndrome
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DOI：
10.1177/1755738020958183
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发表时间：
1995-02
期刊：
影响因子：
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通讯作者：
Rebecca Dunphy
中科院分区：
文献类型：
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作者：
Rebecca Dunphy
脆性X综合征是导致学习障碍的最常见的遗传原因之一。患有这种和其他神经发育障碍的患者通常会在诊断之前接受初级保健，这对患者和其他护理人员来说可能是具有挑战性和令人担忧的。这些患者在获得医疗保健服务方面可能面临许多障碍，包括沟通、行为和感官困难。可能很难理解症状是他们病情的一部分，还是因为需要解决的合并症。来自家庭和护理人员的意见对帮助诊断至关重要。本文旨在概述这种综合征的主要临床特征，诊断和管理。
Fragile X syndrome is one of the most common genetic causes of learning disability. Patients with this and other neurodevelopmental disorders will often present to primary care before a diagnosis is made, and this can be challenging and worrying for patients and other carers. These patients may face a number of barriers in accessing healthcare services including communication, behavioural and sensory difficulties. It may be difficult to understand whether symptoms are part of their condition or because of a comorbidity that needs to be addressed. Input from families and carers can be vital in helping with diagnosis. This article aims to outline the key clinical features, diagnosis and management of this syndrome.