Department of Psychiatry, Tufts University School of Medicine, Boston, MA 02110, USA.
Child Adolesc Psychiatr Clin N Am. 2010 Apr;19(2):229-61, viii. doi: 10.1016/j.chc.2010.02.001.
Neurodevelopmental disorders with identified genetic etiologies present a unique opportunity to study gene-brain-behavior connections in child psychiatry. Parsing complex human behavior into dissociable components is facilitated by examining a relatively homogenous genetic population. As children with developmental delay carry a greater burden of mental illness than the general population, familiarity with the most common genetic disorders will serve practitioners seeing a general child population. In this article basic genetic testing and 11 of the most common genetic disorders are reviewed, including the evidence base for treatment. Based on their training in child development, family systems, and multimodal treatment, child psychiatrists are well positioned to integrate cognitive, behavioral, social, psychiatric, and physical phenotypes, with a focus on functional impairment.
具有明确遗传病因的神经发育障碍为研究儿童精神病学中的基因-大脑-行为联系提供了独特的机会。通过检查相对同质的遗传人群,将复杂的人类行为分解为可分离的成分变得更加容易。由于发育迟缓的儿童比一般人群承受更大的精神疾病负担,因此熟悉最常见的遗传疾病将有助于为一般儿童群体服务的医生。在本文中,回顾了基本的基因检测和 11 种最常见的遗传疾病,包括治疗的证据基础。儿童精神病学家根据他们在儿童发展、家庭系统和多模式治疗方面的培训,能够很好地整合认知、行为、社会、精神和身体表型,重点是功能障碍。