Suppr超能文献

15q13.3微缺失综合征青少年认知结果测量的评估

Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome.

作者信息

Crutcher Emeline, Ali May, Harrison John, Sovago Judit, Gomez-Mancilla Baltazar, Schaaf Christian P

机构信息

Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

出版信息

J Autism Dev Disord. 2016 Apr;46(4):1455-63. doi: 10.1007/s10803-015-2694-0.

Abstract

15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. We aimed to determine if any or all of three cognitive testing systems (the KiTAP, CogState, and Stanford-Binet) are suitable for assessment of cognitive function in affected individuals. These three tests were administered to ten individuals with 15q13.3 microdeletion syndrome (14-18 years of age), and the results were analyzed to determine feasibility of use, potential for improvement, and internal consistency. It was determined that the KiTAP, CogState, and Stanford-Binet are valid tests of cognitive function in 15q13.3 microdeletion patients. Therefore, these tests may be considered for use as objective outcome measures in future clinical trials, assessing change in cognitive function over a period of pharmacological treatment.

摘要

15q13.3微缺失综合征会引发一系列认知障碍,包括智力残疾和自闭症。我们旨在确定三种认知测试系统(KiTAP、CogState和斯坦福-比奈智力量表)中的任何一种或全部是否适用于评估受影响个体的认知功能。对10名患有15q13.3微缺失综合征的个体(年龄在14 - 18岁之间)进行了这三项测试,并对结果进行分析以确定其使用的可行性、改进的潜力和内部一致性。结果确定,KiTAP、CogState和斯坦福-比奈智力量表是评估15q13.3微缺失患者认知功能的有效测试。因此,在未来的临床试验中评估药物治疗一段时间内认知功能的变化时,可考虑将这些测试用作客观的结果指标。

相似文献

1
Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome.
J Autism Dev Disord. 2016 Apr;46(4):1455-63. doi: 10.1007/s10803-015-2694-0.
3
4
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
J Med Genet. 2009 Apr;46(4):242-8. doi: 10.1136/jmg.2008.059907. Epub 2008 Sep 19.
5
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
J Med Genet. 2009 Jun;46(6):382-8. doi: 10.1136/jmg.2008.064378. Epub 2009 Mar 15.
6
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Am J Hum Genet. 2018 Feb 1;102(2):278-295. doi: 10.1016/j.ajhg.2018.01.006.
7
Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.
Biol Psychiatry. 2021 Mar 1;89(5):497-509. doi: 10.1016/j.biopsych.2020.06.021. Epub 2020 Jul 1.
8
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Genet Med. 2015 Feb;17(2):149-57. doi: 10.1038/gim.2014.83. Epub 2014 Jul 31.
9
The complex behavioral phenotype of 15q13.3 microdeletion syndrome.
Genet Med. 2016 Nov;18(11):1111-1118. doi: 10.1038/gim.2016.9. Epub 2016 Mar 10.
10
Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.
Clin Genet. 2013 Apr;83(4):345-51. doi: 10.1111/j.1399-0004.2012.01925.x. Epub 2012 Aug 7.

引用本文的文献

1
Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome.
Front Neurosci. 2021 Jan 28;15:622329. doi: 10.3389/fnins.2021.622329. eCollection 2021.
2
JAKE® Multimodal Data Capture System: Insights from an Observational Study of Autism Spectrum Disorder.
Front Neurosci. 2017 Sep 26;11:517. doi: 10.3389/fnins.2017.00517. eCollection 2017.

本文引用的文献

1
The human clinical phenotypes of altered CHRNA7 copy number.
Biochem Pharmacol. 2015 Oct 15;97(4):352-362. doi: 10.1016/j.bcp.2015.06.012. Epub 2015 Jun 18.
2
[Evaluation of the Musical Concentration Training with Pepe (MusiKo mit Pepe) for children with attention deficits].
Z Kinder Jugendpsychiatr Psychother. 2014 Sep;42(5):325-35. doi: 10.1024/1422-4917/a000308.
3
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Genet Med. 2015 Feb;17(2):149-57. doi: 10.1038/gim.2014.83. Epub 2014 Jul 31.
4
Clinical utility gene card for: 15q13.3 microdeletion syndrome.
Eur J Hum Genet. 2014 Nov;22(11):1338. doi: 10.1038/ejhg.2014.88. Epub 2014 May 14.
5
Nicotinic acetylcholine receptors in human genetic disease.
Genet Med. 2014 Sep;16(9):649-56. doi: 10.1038/gim.2014.9. Epub 2014 Feb 20.
6
α7-nicotinic acetylcholine receptor agonists for cognitive enhancement in schizophrenia.
Annu Rev Med. 2014;65:245-61. doi: 10.1146/annurev-med-092112-142937. Epub 2013 Oct 9.
10
Effects of methylphenidate on intelligence and attention components in boys with attention-deficit/hyperactivity disorder.
J Child Adolesc Psychopharmacol. 2011 Jun;21(3):245-53. doi: 10.1089/cap.2010.0041.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验