Autism traits in the RASopathies.
Autism traits in the RASopathies.
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DOI：
10.1136/jmedgenet-2013-101951
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发表时间：
2014-01
影响因子：
4
通讯作者：
Weiss LA
中科院分区：
文献类型：
--
作者：
Adviento B;Corbin IL;Widjaja F;Desachy G;Enrique N;Rosser T;Risi S;Marco EJ;Hendren RL;Bearden CE;Rauen KA;Weiss LA
Ras/丝裂原活化蛋白激酶（Ras/MAPK）通路基因突变可导致一类被称为RASopathies的疾病，包括1型神经纤维瘤病（NF1）、Noonan综合征（NS）、Costello综合征（CS）和心-面-皮综合征（CFC）。先前的研究表明，Ras/MAPK信号失调与自闭症谱系障碍（ASD）之间存在潜在的遗传和表型重叠。尽管文献中关于NF1与自闭症的关联提供了相互矛盾的证据，但目前还没有对RASopathies中的自闭症特征进行系统的评估，以支持种系Ras/MAPK激活在asd中的作用。我们使用定性社会沟通问卷（SCQ）和定量社会反应量表（SRS）比较了受影响先证与未受影响的兄弟姐妹对照和特发性asd受试者，研究了自闭症特征与NF1、NS、CS和CFC的关系。与兄弟姐妹相比，四种主要的RASopathies中的每一种都显示出增加定性和定量自闭症特征的证据。此外，每种RASopathy表现出不同的数量社会障碍分布。社会反应水平在兄弟姐妹之间显示出一些相关性，自闭症样损伤显示出与特发性自闭症相似的男性偏见。与未受影响的兄弟姐妹相比，ras病患者自闭症特征的患病率和严重程度更高，这表明发育过程中Ras/MAPK信号的失调可能与ASD风险有关。性别偏见和潜在的兄弟姐妹相关性的证据表明，RASopathies的自闭症特征与一般人群和临床ASD人群的自闭症特征相同，可以揭示特发性ASD。
Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). Although the literature offers conflicting evidence for association of NF1 and autism, there has been no systematic evaluation of autism traits in the RASopathies as a class to support a role for germline Ras/MAPK activation in ASDs. We examined the association of autism traits with NF1, NS, CS and CFC, comparing affected probands with unaffected sibling controls and subjects with idiopathic ASDs using the qualitative Social Communication Questionnaire (SCQ) and the quantitative Social Responsiveness Scale (SRS). Each of the four major RASopathies showed evidence for increased qualitative and quantitative autism traits compared with sibling controls. Further, each RASopathy exhibited a distinct distribution of quantitative social impairment. Levels of social responsiveness show some evidence of correlation between sibling pairs, and autism-like impairment showed a male bias similar to idiopathic ASDs. Higher prevalence and severity of autism traits in RASopathies compared to unaffected siblings suggests that dysregulation of Ras/MAPK signalling during development may be implicated in ASD risk. Evidence for sex bias and potential sibling correlation suggests that autism traits in the RASopathies share characteristics with autism traits in the general population and clinical ASD population and can shed light on idiopathic ASDs.
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DOI：
10.1111/j.1469-7610.1992.tb00894.x
发表时间：
1992-03-01
期刊：
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES
影响因子：
--
作者：
BURACK, JA;VOLKMAR, FR
通讯作者：
VOLKMAR, FR
DOI：
10.1176/appi.ajp.2010.09101470
发表时间：
2010-11
期刊：
The American journal of psychiatry
影响因子：
--
作者：
Constantino JN;Zhang Y;Frazier T;Abbacchi AM;Law P
通讯作者：
Law P
影响因子：
30.8
作者：
Cordeddu, Viviana;Di Schiavi, Elia;Pennacchio, Len A.;Ma'ayan, Avi;Sarkozy, Anna;Fodale, Valentina;Cecchetti, Serena;Cardinale, Alessio;Martin, Joel;Schackwitz, Wendy;Lipzen, Anna;Zampino, Giuseppe;Mazzanti, Laura;Digilio, Maria C.;Martinelli, Simone;Flex, Elisabetta;Lepri, Francesca;Bartholdi, Deborah;Kutsche, Kerstin;Ferrero, Giovanni B.;Anichini, Cecilia;Selicorni, Angelo;Rossi, Cesare;Tenconi, Romano;Zenker, Martin;Merlo, Daniela;Dallapiccola, Bruno;Iyengar, Ravi;Bazzicalupo, Paolo;Gelb, Bruce D.;Tartaglia, Marco
通讯作者：
Tartaglia, Marco
DOI：
10.1097/01.chi.0000046811.95464.21
发表时间：
2003-04-01
影响因子：
13.3
作者：
Constantino, JN;Hudziak, JJ;Todd, RD
通讯作者：
Todd, RD
影响因子：
10.6
作者：
Constantino, JN;Todd, RD
通讯作者：
Todd, RD