Crutcher Emeline, Ali May, Harrison John, Sovago Judit, Gomez-Mancilla Baltazar, Schaaf Christian P
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.
J Autism Dev Disord. 2016 Apr;46(4):1455-63. doi: 10.1007/s10803-015-2694-0.
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.
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。