Behavioral and cognitive functioning in individuals with Cantú syndrome.
Behavioral and cognitive functioning in individuals with Cantú syndrome.
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DOI：
10.1002/ajmg.a.62348
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发表时间：
2021-08
期刊：
影响因子：
--
通讯作者：
van Haelst MM
中科院分区：
文献类型：
--
作者：
Roessler HI;van der Heuvel LM;Shields K;Guilliams KP;Knoers NVAM;van Haaften G;Grange DK;van Haelst MM
Cantú综合征（CS）是由ABCC 9和KCNJ 8中编码ATP敏感性钾（KATP）通道的调节和孔形成亚基的致病性变体引起的。CS的特征在于先天性肥大、独特的面部特征、外周水肿以及心脏和神经发育异常。行为和认知问题已经自我报告的一些CS个人，但正式的标准化调查结果尚未公布。为了以横断面方式系统地评估一大群CS受试者的认知特征、社会功能和精神症状，我们邀请了35名个体（1-69岁）的受试者及其亲属完成各种常用的标准化年龄相关问卷，包括考夫曼简明智力测试2（KBIT-2），社会反应量表-2（SRS-2）和Achenbach经验评估系统（ASEBA）。与一般人群相比，大多数CS个体表现出平均的语言和非语言智力。15%的病例显示社会功能与自闭症谱系障碍的临床诊断密切相关。外化和内化的问题也存在于这一队列。特别是，焦虑、ADHD和自闭症谱系行为主要在队列中的年轻受试者中观察到（≥25%），但这一百分比在成人中显著下降。
Cantú syndrome (CS) is caused by pathogenic variants in ABCC9 and KCNJ8 encoding the regulatory and pore forming subunits of ATP-sensitive potassium (KATP) channels. CS is characterized by congenital hypertrichosis, distinctive facial features, peripheral edema, and cardiac and neurodevelopmental abnormalities. Behavioural and cognitive issues have been self-reported by some CS individuals, but results of formal standardized investigations have not been published. To assess the cognitive profile, social functioning and psychiatric symptoms in a large group of CS subjects systematically in a cross-sectional manner, we invited 35 individuals (1–69 years) with confirmed ABCC9 variants and their relatives to complete various commonly applied standardized age-related questionnaires, including the Kaufman Brief Intelligence Test 2 (KBIT-2), the Social Responsiveness Scale-2 (SRS-2) and the Achenbach System of Empirically Based Assessment (ASEBA). The majority of CS individuals demonstrated average verbal and nonverbal intelligence compared to the general population. Fifteen percent of cases showed social functioning strongly associated with a clinical diagnosis of autism spectrum disorder. Both externalizing and internalizing problems were also present in this cohort. In particular, anxiety, ADHD and autism spectrum behaviors were predominantly observed in the younger subjects in the cohort (≥25%), but this percentage decreased markedly in adults.
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影响因子：
15.9
作者：
McClenaghan, Conor;Huang, Yan;Nichols, Colin G.
通讯作者：
Nichols, Colin G.
影响因子：
3.3
作者：
Zoga V;Kawano T;Liang MY;Bienengraeber M;Weihrauch D;McCallum B;Gemes G;Hogan Q;Sarantopoulos C
通讯作者：
Sarantopoulos C
大脑中的ABCC9/SUR2：对海马硬化的衰老和潜在治疗靶标的影响。
影响因子：
13.1
作者：
Nelson PT;Jicha GA;Wang WX;Ighodaro E;Artiushin S;Nichols CG;Fardo DW
通讯作者：
Fardo DW
影响因子：
16.6
作者：
Smeland, Marie F.;McClenaghan, Conor;van Haaften, Gijs
通讯作者：
van Haaften, Gijs
DOI：
10.1002/ajmg.c.31753
发表时间：
2019-12
期刊：
American journal of medical genetics. Part C, Seminars in medical genetics
影响因子：
--
作者：
Grange DK;Roessler HI;McClenaghan C;Duran K;Shields K;Remedi MS;Knoers NVAM;Lee JM;Kirk EP;Scurr I;Smithson SF;Singh GK;van Haelst MM;Nichols CG;van Haaften G
通讯作者：
van Haaften G