Wolff P H, Gardner J, Lappen J, Paccia J, Meryash D
Mental Retardation Research Center, Children's Hospital, Boston, MA 02115.
Am J Med Genet. 1988 May-Jun;30(1-2):213-25. doi: 10.1002/ajmg.1320300121.
The cognitive, linguistic and memory functions of non-retarded fragile X heterozygotes and matched controls were examined by a detailed protocol of neuropsychological measures in order to determine the incidence of specific learning disabilities in this subgroup, and to compare their performance profiles with those of control subjects (mothers of Down syndrome sons). There were no group differences in psychometric intelligence, but the heterozygotes scored significantly lower than controls on most academic achievement tests, as well as on language-based neuropsychological measures. By neuropsychological criteria, 8 of the 15 heterozygotes, but only one of the controls, exhibited performance profiles consistent with a diagnosis of specific learning disability, and similar to cognitive profiles commonly seen in individuals from the general population with developmental dyslexia.
通过一套详细的神经心理学测量方案，对非智力迟钝的脆性X综合征杂合子及匹配的对照组的认知、语言和记忆功能进行了检测，以确定该亚组中特定学习障碍的发生率，并将他们的表现概况与对照组受试者（唐氏综合征儿子的母亲）进行比较。在心理测量智力方面，两组没有差异，但在大多数学术成就测试以及基于语言的神经心理学测量中，杂合子的得分显著低于对照组。根据神经心理学标准，15名杂合子中有8名，但对照组中只有1名，其表现概况符合特定学习障碍的诊断，且与一般人群中患有发育性阅读障碍的个体常见的认知概况相似。
