Wisniewski K E, Segan S M, Miezejeski C M, Sersen E A, Rudelli R D
New York State Office of Mental Retardation and Developmental Disabilities, Institute for Basic Research in Developmental Disabilities, Staten Island 10314.
Am J Med Genet. 1991 Feb-Mar;38(2-3):476-80. doi: 10.1002/ajmg.1320380267.
We have evaluated 62 fragile X syndrome [fra(X)] individuals (55 males and 7 females) with different degrees of developmental disabilities that were clinically non-progressive and non-focal in character. The mean age for the 55 males was 23.1 years +/- 14.3 SD with a range of 2-70: for the 7 females, the mean age was 15.7 years +/- 3.5 SD with a range of 10-20 years. Mental retardation (MR) was found in 53 males (8/53 [15.1%] mild, 26/53 [49.1%] moderate, 14/53 [26.4%] severe, and 5/53 [9.4%] profound). Learning disabilities were found in 2/55 (3.6%) of males. One of the 7 females had mild and one had moderate MR: the other 5 were learning disabled. Autistic stigmata were present in 10/62 (16%) of the patients. Only 14/62 (23%) had a history of seizures, all of which were controlled with anticonvulsants. In 36/62 cases, an electroencephalogram (EEG) was performed. We compared these data with that of others. Brain stem auditory evoked response (BAER) was performed in 12 cases. Abnormalities were found in only 5/12. Neuroimaging and computerized cranial transaxial tomography (CT scan) were performed on 21/62 (34%) of the patients. Only 8 of these 21 (38%) studies were abnormal. One patient died; neuropathological studies showed mild brain atrophy, with light microscopic and ultrastructural abnormalities. Rapid Golgi dendritic spine patterns showed that the proximal apical segments were abnormally developed. Very thin, long tortuous spines with prominent terminal heads and irregular dilatations were present. Marked reductions in the length of the synapses, as determined on EPTA-postfixed tissue where noted.(ABSTRACT TRUNCATED AT 250 WORDS)
我们评估了62名脆性X综合征[fra(X)]患者（55名男性和7名女性），他们有不同程度的发育障碍，临床上呈非进行性且无局灶性特征。55名男性的平均年龄为23.1岁±14.3标准差，年龄范围为2至70岁；7名女性的平均年龄为15.7岁±3.5标准差，年龄范围为10至20岁。53名男性存在智力迟钝（MR）（8/53[15.1%]轻度，26/53[49.1%]中度，14/53[26.4%]重度，5/53[9.4%]极重度）。55名男性中有2名（3.6%）存在学习障碍。7名女性中有1名轻度MR，1名中度MR，其他5名有学习障碍。10/62（16%）的患者有自闭症特征。仅14/62（23%）有癫痫病史，所有这些患者均通过抗惊厥药得到控制。62例中有36例进行了脑电图（EEG）检查。我们将这些数据与其他人的数据进行了比较。12例患者进行了脑干听觉诱发电位（BAER）检查，仅5/12发现异常。62例中有21/62（34%）的患者进行了神经影像学检查和计算机头颅断层扫描（CT扫描），这21例研究中仅8例（38%）异常。1例患者死亡；神经病理学研究显示轻度脑萎缩，伴有光镜和超微结构异常。快速高尔基树突棘模式显示近端顶端节段发育异常。存在非常细、长且扭曲的棘突，其末端头部突出且有不规则扩张。在经EPTA后固定的组织上测定时，突触长度明显缩短。（摘要截断于250字）
