简报：胚系 PTEN 突变个体中父母报告的执行功能和焦虑在坚持一致性中的作用。
Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations.
机构信息
Faculty of Medicine, Dentistry, and Health Sciences, Melbourne School of Psychological Sciences, The University of Melbourne, Victoria, Australia.
La Trobe University, Bundoora, VIC, 3086, Australia.
出版信息
J Autism Dev Disord. 2022 Jan;52(1):414-422. doi: 10.1007/s10803-021-04881-5. Epub 2021 Feb 17.
Abstract
This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with PTEN mutations and individuals with macrocephalic ASD. The sample included 38 individuals with PTEN mutation and ASD diagnosis (PTEN-ASD; M = 8.93 years, SD = 4.75), 23 with PTEN mutation without ASD (PTEN-no ASD; M = 8.94 years; SD = 4.85) and 25 with ASD and macrocephaly but with no PTEN mutation (Macro-ASD; M = 11.99 years; SD = 5.15). The final model accounted for 45.7% of variance in IS, with Set-Shifting EF subdomain as a unique independent predictor (t = 4.12, p < 0.001). This investigation provides the first preliminary evidence for the EF-anxiety-IS interrelationship in individuals with PTEN mutations and with macrocephalic ASD.
摘要
本研究旨在描述坚持一致性（IS）、执行功能（EF）与具有 PTEN 突变的个体和大头 ASD 个体之间的焦虑之间的关系。样本包括 38 名具有 PTEN 突变和 ASD 诊断的个体（PTEN-ASD；M=8.93 岁，SD=4.75）、23 名具有 PTEN 突变但无 ASD 的个体（PTEN-no ASD；M=8.94 岁，SD=4.85）和 25 名具有 ASD 和大头畸形但无 PTEN 突变的个体（Macro-ASD；M=11.99 岁，SD=5.15）。最终模型解释了 IS 变异的 45.7%，其中转换 EF 子领域是一个独特的独立预测因子（t=4.12，p<0.001）。这项研究为具有 PTEN 突变和大头 ASD 的个体中 EF-焦虑-IS 的相互关系提供了初步证据。
相似文献
1
Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations.简报：胚系 PTEN 突变个体中父母报告的执行功能和焦虑在坚持一致性中的作用。
J Autism Dev Disord. 2022 Jan;52(1):414-422. doi: 10.1007/s10803-021-04881-5. Epub 2021 Feb 17.
2
Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.旨在更好地描述种系杂合性 PTEN 突变个体的受限和重复行为。
Am J Med Genet A. 2021 Nov;185(11):3401-3410. doi: 10.1002/ajmg.a.62458. Epub 2021 Aug 23.
3
Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN.自闭症谱系障碍的神经行为表型与 PTEN 种系杂合突变相关。
Transl Psychiatry. 2019 Oct 8;9(1):253. doi: 10.1038/s41398-019-0588-1.
4
Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism.在一组具有种系杂合性 PTEN 突变的前瞻性患者中，进行分子和神经行为功能的跨层次分析，包括自闭症患者和非自闭症患者。
Mol Autism. 2021 Jan 28;12(1):5. doi: 10.1186/s13229-020-00406-6.
5
Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.与癌症表型与自闭症表型相关的种系 PTEN 突变的动力学和结构稳定性效应。
J Biomol Struct Dyn. 2019 Apr;37(7):1766-1782. doi: 10.1080/07391102.2018.1465854. Epub 2018 May 14.
6
Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder.孤独症谱系障碍单纯家系中坚持同一性和更广泛孤独症表型。
Autism Res. 2018 Sep;11(9):1253-1263. doi: 10.1002/aur.1975. Epub 2018 Oct 5.
7
Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.携带种系杂合型PTEN突变和自闭症个体的分子及表型异常
Mol Psychiatry. 2015 Sep;20(9):1132-8. doi: 10.1038/mp.2014.125. Epub 2014 Oct 7.
8
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.PTEN 基因突变在土耳其自闭症谱系障碍和大头畸形儿童中的流行情况及临床/分子特征。
Mol Genet Genomic Med. 2021 Aug;9(8):e1739. doi: 10.1002/mgg3.1739. Epub 2021 Jul 16.
9
Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.种系 PTEN 基因突变患者的拷贝数变异与临床结局。
JAMA Netw Open. 2020 Jan 3;3(1):e1920415. doi: 10.1001/jamanetworkopen.2019.20415.
10
Co-occurring trajectories of anxiety and insistence on sameness behaviour in autism spectrum disorder.自闭症谱系障碍中焦虑和坚持一致性行为的共发轨迹。
Br J Psychiatry. 2021 Jan;218(1):20-27. doi: 10.1192/bjp.2020.127.
引用本文的文献
1
Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.探讨携带种系 PTEN 变异个体的神经学特征：一项多中心研究。
Ann Clin Transl Neurol. 2024 May;11(5):1301-1309. doi: 10.1002/acn3.52046. Epub 2024 Mar 19.
2
Associations Between Executive Functioning, Behavioral Functioning, and Adaptive Functioning Difficulties in Wiedemann-Steiner Syndrome.威德曼-施泰因伯格综合征患者执行功能、行为功能与适应功能障碍的相关性研究。
Arch Clin Neuropsychol. 2024 Feb 19;39(2):186-195. doi: 10.1093/arclin/acad060.
3
Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.焦虑、担忧和 COVID-19：来自有神经发育状况的家庭和个人的跨国视角。
J Glob Health. 2023 Jul 28;13:04081. doi: 10.7189/jogh.13.04081.
4
Restricted and repetitive behaviors and their developmental and demographic correlates in 4-8-year-old children: A transdiagnostic approach.4至8岁儿童的受限和重复行为及其发育和人口统计学相关性：一种跨诊断方法。
Front Behav Neurosci. 2023 Mar 1;17:1085404. doi: 10.3389/fnbeh.2023.1085404. eCollection 2023.
5
Development and validation of the Executive Functioning Scale.执行功能量表的编制与验证
Front Psychiatry. 2023 Jan 10;13:1078211. doi: 10.3389/fpsyt.2022.1078211. eCollection 2022.
6
Examining the relationship between cognitive inflexibility and internalizing and externalizing symptoms in autistic children and adolescents: A systematic review and meta-analysis.检查自闭症儿童和青少年认知灵活性与内化和外化症状之间的关系：系统评价和荟萃分析。
Autism Res. 2022 Dec;15(12):2265-2295. doi: 10.1002/aur.2826. Epub 2022 Oct 5.
7
Psychiatric Characteristics Across Individuals With Mutations.具有突变的个体的精神特征
Front Psychiatry. 2021 Aug 17;12:672070. doi: 10.3389/fpsyt.2021.672070. eCollection 2021.
本文引用的文献
1
Investigating associations between birth order and autism diagnostic phenotypes.研究出生顺序与自闭症诊断表型之间的关联。
J Child Psychol Psychiatry. 2021 Aug;62(8):961-970. doi: 10.1111/jcpp.13349. Epub 2020 Nov 8.
2
Executive functioning and neurodevelopmental disorders in early childhood: a prospective population-based study.幼儿期的执行功能与神经发育障碍：一项基于人群的前瞻性研究。
Child Adolesc Psychiatry Ment Health. 2019 Oct 22;13:38. doi: 10.1186/s13034-019-0299-7. eCollection 2019.
3
The Clinical Spectrum of Mutations.突变的临床谱。
Annu Rev Med. 2020 Jan 27;71:103-116. doi: 10.1146/annurev-med-052218-125823. Epub 2019 Aug 21.
4
Interrelationship Between Cognitive Control, Anxiety, and Restricted and Repetitive Behaviors in Children with 22q11.2 Deletion Syndrome.22q11.2 缺失综合征患儿的认知控制、焦虑与受限和重复行为之间的相互关系。
Autism Res. 2019 Dec;12(12):1737-1744. doi: 10.1002/aur.2194. Epub 2019 Aug 21.
5
Autism Spectrum Disorder Associated with Germline Heterozygous Mutations.自闭症谱系障碍与种系杂合突变相关。
Cold Spring Harb Perspect Med. 2019 Oct 1;9(10):a037002. doi: 10.1101/cshperspect.a037002.
6
Anxiety and Depression from Adolescence to Old Age in Autism Spectrum Disorder.自闭症谱系障碍患者从青春期到老年的焦虑和抑郁。
J Autism Dev Disord. 2020 Sep;50(9):3155-3165. doi: 10.1007/s10803-019-04084-z.
7
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.儿科患者中PTEN突变的临床谱：一项双中心经验。
Eur J Med Genet. 2019 Dec;62(12):103596. doi: 10.1016/j.ejmg.2018.12.001. Epub 2018 Dec 4.
8
Variation in restricted and repetitive behaviors and interests relates to inhibitory control and shifting in children with autism spectrum disorder.自闭症谱系障碍儿童的受限和重复行为与兴趣的变化与抑制控制和转换有关。
Autism. 2019 Jul;23(5):1262-1272. doi: 10.1177/1362361318804192. Epub 2018 Nov 3.
9
Towards a Treatment for Intolerance of Uncertainty for Autistic Adults: A Single Case Experimental Design Study.针对成年自闭症患者不确定性不耐受的治疗方法：一项单病例实验设计研究。
J Autism Dev Disord. 2018 Aug;48(8):2832-2845. doi: 10.1007/s10803-018-3550-9.
10
Development of restricted and repetitive behaviors from 15 to 77 months: Stability of two distinct subtypes?15 至 77 个月时受限和重复行为的发展：两种不同亚型的稳定性？
Dev Psychol. 2017 Oct;53(10):1859-1868. doi: 10.1037/dev0000324. Epub 2017 Jul 31.
Zotero 插件