Csábi Györgyi, Tényi Tamás
Pécsi Tudományegyetem, Altalános Orvosi Kar, Gyermekgyógyászati Klinika.
Neuropsychopharmacol Hung. 2006 Oct;8(3):127-42.
The authors in a review article deal with characteristic cognitive and behavioral features appearing in mental retardations, which later are referred as behavioral phenotypes. Nyhan (1972) introduced the term "behavioral phenotype" to describe outwardly observable behavior so characteristic of children with genetic disorders that its presence suggests the underlying genetic condition. The behavioral phenotype is a characteristic pattern of motor, cognitive, linguistic and social abnormalities that is consistently associated with a biological/neurodevelopmental disorder. This does not mean that the behavior is present in all instances but that the probability of its occurrence is increased. In the future, more may be learned about brain mechanisms and gene-brain interactions by comparing those with behavioral involvement with others with the same syndrome but without the behavioral features.
在一篇综述文章中,作者探讨了智力障碍中出现的特征性认知和行为特征,这些特征后来被称为行为表型。尼汉(1972年)引入了“行为表型”这一术语,用于描述患有遗传疾病的儿童所具有的明显可观察到的行为特征,其存在表明潜在的遗传状况。行为表型是运动、认知、语言和社交异常的特征模式,与生物/神经发育障碍始终相关。这并不意味着这种行为在所有情况下都存在,而是其发生的概率会增加。未来,通过将有行为表现的人与患有相同综合征但无行为特征的人进行比较,可能会更多地了解大脑机制和基因与大脑的相互作用。