Rosen A C, Newby R F, Sauer C M, Lacey T, Hammeke T A, Lubinsky M S
Medical College of Wisconsin, Milwaukee, USA.
J Clin Exp Neuropsychol. 1998 Aug;20(4):483-95. doi: 10.1076/jcen.20.4.483.1472.
We present the most extensive neuropsychological and language assessment yet reported of patients diagnosed with Floating-Harbor Syndrome (FHS), a rare genetic condition characterized by dysmorphid figures, short stature, and speech-onset delay. This is also the second reported occurrence of both a mother and daughter with FHS. Whereas the child demonstrated gross deficits in verbal expression, speech and language problems were largely ameliorated in the mother. Neuropsychological assessment also revealed a strikingly similar pattern of cognitive problems additional to language dysfunction, including difficulties with attention, mathematical, and visuospatial abilities. A mood disorder continued to be quite disabling for the mother.
我们展示了迄今为止对被诊断为漂浮港综合征（FHS）患者进行的最广泛的神经心理学和语言评估，FHS是一种罕见的遗传性疾病，其特征为身材畸形、身材矮小和语言发育延迟。这也是第二例母女均患有FHS的报告病例。尽管孩子在言语表达方面存在严重缺陷，但母亲的言语和语言问题在很大程度上得到了改善。神经心理学评估还揭示了除语言功能障碍外，认知问题的模式惊人地相似，包括注意力、数学和视觉空间能力方面的困难。情绪障碍对母亲来说仍然极具致残性。
