Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.
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DOI：
10.1007/s00439-011-1106-6
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发表时间：
2012-04
期刊：
影响因子：
5.3
通讯作者：
Hagerman RJ
中科院分区：
文献类型：
--
作者：
Chonchaiya W;Au J;Schneider A;Hessl D;Harris SW;Laird M;Mu Y;Tassone F;Nguyen DV;Hagerman RJ
癫痫发作是脆性X综合征（FXS）患者和特发性自闭症谱系障碍（ASD）患者常见的并发症。在FXS患者中，癫痫发作也与ASD相关。然而，关于FMR 1前突变男孩的癫痫发作率以及这些问题与ASD共同发生的常见程度知之甚少。因此，我们确定了FMR 1排列的男孩癫痫发作和ASD的患病率，并与他们的兄弟姐妹和人群患病率估计值进行了比较。50名表现为临床先证者（N = 25）或非先证者（在发现先证者后通过级联试验确定）（N = 25）的前突变男孩和32名非携带者对照入选。记录癫痫发作史，并通过标准化措施诊断ASD，然后达成ASD诊断的团队共识。与非先证者（0和28%）、对照组（0和0%）和人群估计值（1和1.7%）相比，先证者的癫痫发作（28%）和ASD（68%）更普遍。与仅存在前突变的患者相比，存在前突变和共病ASD的患者癫痫发作更频繁，尤其是先证者（25 vs. 3.85%，p = 0.045）。虽然非先证者的认知和适应功能与对照组相似，但非先证者比对照组更可能符合ASD的诊断（28 vs. 0%，p < 0.0001）。总之，癫痫发作相对更常见于临床表现为家族先证者的前突变携带者，癫痫发作通常与这些男孩的ASD相关。因此，有前突变的男孩，特别是如果他们是先证者，应该仔细评估ASD和癫痫发作。
Seizures are a common co-occurring condition in those with fragile X syndrome (FXS), and in those with idiopathic autism spectrum disorder (ASD). Seizures are also associated with ASD in those with FXS. However, little is known about the rate of seizures and how commonly these problems co-occur with ASD in boys with the FMR1 premutation. We, therefore, determined the prevalence of seizures and ASD in boys with the FMR1 permutation compared with their sibling counterparts and population prevalence estimates. Fifty premutation boys who presented as clinical probands (N = 25), or non-probands (identified by cascade testing after the proband was found) (N = 25), and 32 non-carrier controls were enrolled. History of seizures was documented and ASD was diagnosed by standardized measures followed by a team consensus of ASD diagnosis. Seizures (28%) and ASD (68%) were more prevalent in probands compared with non-probands (0 and 28%), controls (0 and 0%), and population estimates (1 and 1.7%). Seizures occurred more frequently in those with the premutation and co-morbid ASD particularly in probands compared with those with the premutation alone (25 vs. 3.85%, p = 0.045). Although cognitive and adaptive functioning in non-probands were similar to controls, non-probands were more likely to meet the diagnosis of ASD than controls (28 vs. 0%, p < 0.0001). In conclusion, seizures were relatively more common in premutation carriers who presented clinically as probands of the family and seizures were commonly associated with ASD in these boys. Therefore, boys with the premutation, particularly if they are probands should be assessed carefully for both ASD and seizures.
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DOI：
10.1097/00004703-200604002-00012
发表时间：
2006-04-01
影响因子：
2.4
作者：
Farzin, Faraz;Perry, Hazel;Hagerman, Randi
通讯作者：
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影响因子：
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作者：
Fatemi, S. Hossein;Folsom, Timothy D.
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Folsom, Timothy D.
影响因子：
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作者：
Chen, Yucui;Tassone, Flora;Pessah, Isaac N.
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Pessah, Isaac N.
DOI：
10.1352/1944-7558-115.6.461
发表时间：
2010-11-01
影响因子：
2.1
作者：
Berry-Kravis, Elizabeth;Raspa, Melissa;Bailey, Donald B., Jr.
通讯作者：
Bailey, Donald B., Jr.