Dykens E M
Yale University, Child Study Center, New Haven, CT 06520-7900, USA.
Am J Ment Retard. 1995 Mar;99(5):522-32.
Recent revolutionary advances in genetics bring a renewed importance to the behavioral phenotypes of mental retardation syndromes. Although the so-called "new genetics" calls for improved research on syndromic behavior, this work has not been a priority in the larger mental retardation field. Further, the work has suffered from inconsistent definitions and methodologies. In this paper key properties of behavioral phenotypes were clarified, including within-syndrome variability and between-syndrome similarities and qualitative differences. Three strategies were offered that improve the traditional focus on easily observed syndromic traits: a psychiatric approach, psychometric methods, and syndrome-specific observations. The need to combine these approaches was discussed as were complications of the work due to developmental and environmental issues.
遗传学领域最近的革命性进展使智力发育迟缓综合征的行为表型重新受到重视。尽管所谓的“新遗传学”要求加强对综合征行为的研究，但在更广泛的智力发育迟缓领域，这项工作并非优先事项。此外，这项工作还存在定义和方法不一致的问题。本文阐明了行为表型的关键特性，包括综合征内的变异性、综合征间的相似性和质性差异。提出了三种策略，以改进传统上对易于观察的综合征特征的关注：精神病学方法、心理测量方法和特定综合征观察。讨论了结合这些方法的必要性，以及由于发育和环境问题导致的工作复杂性。
