Psychiatric Characteristics Across Individuals With PTEN Mutations.
Psychiatric Characteristics Across Individuals With PTEN Mutations.
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DOI：
10.3389/fpsyt.2021.672070
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发表时间：
2021
影响因子：
4.7
通讯作者：
Hardan AY
中科院分区：
文献类型：
--
作者：
Steele M;Uljarević M;Rached G;Frazier TW;Phillips JM;Libove RA;Busch RM;Klaas P;Martinez-Agosto JA;Srivastava S;Eng C;Sahin M;Hardan AY
生殖系杂合子PTEN突变与自闭症谱系障碍（ASD）的高患病率和广泛定义的行为问题的发病率和严重程度升高相关。然而，在理解与特发性ASD相比，PTEN突变是否与特定的精神病共病特征相关方面取得了有限的进展。本研究旨在采用交叉测量方法，使用儿童行为量表（CBCL）和异常行为量表（ABC）比较患有PTEN突变伴ASD（PTEN-ASD; n = 38）和不伴ASD（PTEN-No ASD; n = 23）以及伴有大头但无PTEN突变的ASD（macro-ASD; n = 25）的儿童和青少年的并发精神病学特征。CBCL内化和外化广义症状评分、大多数特定CBCL综合征评分和所有ABC子量表评分存在显著的组效应。事后比较显示，在几乎所有检查的子测试分数上，ASD组（PTEN-ASD和macro-ASD）中的行为症状比PTEN-no ASD组更严重。PTEN-ASD组和macro-ASD组之间没有统计学显著差异;然而，macro-ASD组有表现出更高水平的攻击行为的趋势。我们的研究结果提供了跨PTEN-No ASD，PTEN-ASD和macro-ASD组的特定行为特征的证据，并强调了早期识别PTEN突变个体行为脆弱性的重要性，以便提供适当的循证干预措施。
Germline heterozygous PTEN mutations have been associated with high prevalence of autism spectrum disorder (ASD) and elevated rates and severity of broadly defined behavioral problems. However, limited progress has been made toward understanding whether PTEN mutation is associated with specific psychiatric co-morbidity profiles when compared to idiopathic ASD. The current study aimed to utilize a cross-measure approach to compare concurrent psychiatric characteristics across children and adolescents with PTEN mutation with (PTEN-ASD; n = 38) and without ASD (PTEN-No ASD; n = 23), and ASD with macrocephaly but no PTEN mutation (macro-ASD; n = 25) using the Child Behavior Checklist (CBCL) and the Aberrant Behavior Checklist (ABC). There were significant group effects for the CBCL Internalizing and Externalizing broad symptom score, the majority of specific CBCL syndrome scores, and all ABC subscale scores. Post-hoc comparisons revealed greater behavioral symptoms in the ASD groups (PTEN-ASD and macro-ASD) compared to the PTEN-no ASD group on nearly all subtest scores examined. There were no statistically significant differences between the PTEN-ASD and macro-ASD groups; however, there was a trend for the macro-ASD group showing higher levels of aggressive behaviors. Our findings provide evidence of specific behavior profiles across PTEN-No ASD, PTEN-ASD, and macro-ASD groups and highlight the importance of early identification of behavioral vulnerabilities in individuals with PTEN mutations in order to provide access to appropriate evidence-based interventions.
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影响因子：
1.3
作者：
Achenbach, T M;Ruffle, T M
通讯作者：
Ruffle, T M
DOI：
10.1176/appi.ajp.2017.16040400
发表时间：
2017-07-01
期刊：
The American journal of psychiatry
影响因子：
--
作者：
McTeague LM;Huemer J;Carreon DM;Jiang Y;Eickhoff SB;Etkin A
通讯作者：
Etkin A
影响因子：
8.8
作者：
Busch, Robyn M.;Chapin, Jessica S.;Eng, Charis
通讯作者：
Eng, Charis
影响因子：
2.5
作者：
Halim, Andrew T.;Richdale, Amanda L.;Uljarevic, Mirko
通讯作者：
Uljarevic, Mirko
影响因子：
3.7
作者：
Bottesi, Gioia;Noventa, Stefano;Ghisi, Marta
通讯作者：
Ghisi, Marta