特纳综合征
Turner syndrome.
作者信息
Kesler Shelli R
机构信息
Department of Psychiatry and Behavioral Sciences, Stanford University, MC5795, Stanford, CA 94305-5795, USA.
出版信息
Child Adolesc Psychiatr Clin N Am. 2007 Jul;16(3):709-22. doi: 10.1016/j.chc.2007.02.004.
Turner syndrome is a neurogenetic disorder characterized by partial or complete monosomy-X. It is associated with certain physical and medical features, including estrogen deficiency, short stature, and increased risk for several diseases, with cardiac conditions being among the most serious. The cognitive-behavioral phenotype associated with the syndrome includes strengths in verbal domains with impairments in visuospatial, executive function, and emotion processing. Less is known regarding psychosocial and psychiatric functioning in Turner syndrome, but essential aspects of psychotherapeutic treatment plans are suggested. Future investigations should include continued genetic studies and determination of candidate genes for physical and cognitive features. Multimodal, interdisciplinary studies are essential for identifying optimal, syndrome-specific interventions for improving the lives of individuals who have Turner syndrome.
特纳综合征是一种神经遗传性疾病，其特征为部分或完全X染色体单体性。它与某些身体和医学特征相关，包括雌激素缺乏、身材矮小以及多种疾病风险增加，其中心脏疾病最为严重。与该综合征相关的认知行为表型包括语言领域的优势以及视觉空间、执行功能和情绪处理方面的损伤。关于特纳综合征患者的心理社会和精神功能了解较少，但提出了心理治疗计划的基本方面。未来的研究应包括持续的基因研究以及确定身体和认知特征的候选基因。多模式、跨学科研究对于确定改善特纳综合征患者生活的最佳、针对综合征的干预措施至关重要。
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