Reiss A L, Cianchetti C, Cohen I L, DeVries B, Hagerman R, Hinton V, Froster U, Lachiewicz A, Mazzocco M, Sobesky W
Kennedy Institute, John Hopkins University School of Medicine, Baltimore, MD.
Am J Med Genet. 1992;43(1-2):61-4. doi: 10.1002/ajmg.1320430109.
New molecular research has provided strong evidence for different forms of the fragile X mutation. These findings suggest the need to develop a more standardized and sensitive method for determining neurobehavioral effects of the fragile X gene(s), particularly for molecular studies of patients who do not have obvious mental retardation. This report describes a brief screening questionnaire designed to increase the detection of neurobehavioral dysfunction in individuals from fragile X families who are included in new molecular studies. Improved detection of the affected state in fragile X syndrome will allow more valid clinical data to be correlated with the important molecular information currently being collected.
新的分子研究为脆性X突变的不同形式提供了有力证据。这些发现表明，需要开发一种更标准化、更灵敏的方法来确定脆性X基因的神经行为效应，特别是对于那些没有明显智力迟钝的患者的分子研究。本报告描述了一种简短的筛查问卷，旨在提高对参与新分子研究的脆性X家族个体神经行为功能障碍的检测。改善脆性X综合征中受影响状态的检测将使更有效的临床数据与目前正在收集的重要分子信息相关联。
