Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.
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DOI：
10.1002/ajmg.a.32290
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发表时间：
2008-08-01
影响因子：
2
通讯作者：
Hagerman, Randi J.
中科院分区：
文献类型：
--
作者：
Garcia-Nonell, Catalina;Ratera, Euienia Rigau;Harris, Susan;Hessl, David;Ono, Michele Y.;Tartaglia, Nicole;Marvin, Emily;Tassone, Flora;Hagerman, Randi J.
这项研究检查了影响CNS功能的二级医学诊断（即，癫痫发作、畸形或遗传性疾病）更可能发生在脆性X综合征（FXS）和自闭症谱系障碍（FXS+ASD）或FXS单独患者中。通过病史和检查评价了90例FXS或FXS+ASD男性（3-25岁）的次要医学诊断。FXS+ASD患者（38.6%）和单纯FXS患者（18.2%，p<0.05）的医疗问题发生率存在显著差异。影响CNS的医学问题更可能发生在FXS+ASD患者中，并且与这些医学问题相关的额外脑功能障碍可能会增加FXS患者的自闭症风险。
This study examined whether secondary medical diagnoses that affect CNS function (i.e., seizures, malformations, or genetic disorders), are more likely to occur in individuals with fragile X syndrome (FXS) and autism spectrum disorder (FXS+ASD) or FXS alone. Ninety males (3-25 years) with FXS or FXS+ASD were evaluated for secondary medical diagnoses by medical history and examination. A significant difference in the incidence of medical problems was found between patients with FXS+ASD (38.6%) and FXS alone (18.2%, p<.05). Medical problems that affect the CNS are more likely to occur in those with FXS+ASD and it is probable that additional brain dysfunction associated with these medical problems enhance the risk of autism in those with FXS.
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影响因子：
1.2
作者：
Artigas-Pallarés, J;Brun-Gasca, C
通讯作者：
Brun-Gasca, C
影响因子：
3.9
作者：
Lord, C;Risi, S;Rutter, M
通讯作者：
Rutter, M
影响因子：
25
作者：
Belmonte, Matthew K.;Bourgeron, Thomas
通讯作者：
Bourgeron, Thomas
DOI：
10.1111/j.1365-2788.2004.00500.x
发表时间：
2004-02-01
影响因子：
3.6
作者：
Kittler, P;Krinsky-McHale, SJ;Devenny, DA
通讯作者：
Devenny, DA
影响因子：
4
作者：
DEVRIES, BBA;FRYNS, JP;NIERMEIJER, MF
通讯作者：
NIERMEIJER, MF