Ballantyne Angela O, Spilkin Amy M, Trauner Doris A
Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093-0935, USA.
Cogn Behav Neurol. 2013 Mar;26(1):14-22. doi: 10.1097/WNN.0b013e31828b9f11.
We studied executive function (EF) in children and adolescents with cystinosis.
Cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in all organs of the body, including the brain. Previous research has shown that individuals with cystinosis have visuospatial deficits, but normal intelligence and intact verbal abilities. Better understanding of the behavioral phenotype associated with cystinosis could have important implications for treatment.
Twenty-eight children with cystinosis and 24 control participants (age range 8 to 17 years) underwent selected Delis-Kaplan executive function system tests for neuropsychological assessment of EF, and the participants' parents completed the behavior rating inventory of executive function.
Participants with cystinosis performed significantly more poorly than controls on all Delis-Kaplan Executive Function System indices examined and on the behavior rating inventory of executive function metacognition index and global executive composite.
EF is an area of potential risk in cystinosis. Our data have implications not only for the function of affected children and adolescents in school and daily life, but also for disease management and treatment adherence. Our findings can aid in the design and implementation of interventions and lead to a greater understanding of brain-behavior relationships in cystinosis.
我们研究了患有胱氨酸病的儿童和青少年的执行功能（EF）。
胱氨酸病是一种遗传性代谢紊乱疾病，其中氨基酸胱氨酸在包括大脑在内的身体所有器官中积累。先前的研究表明，患有胱氨酸病的个体存在视觉空间缺陷，但智力正常且语言能力完好。更好地理解与胱氨酸病相关的行为表型可能对治疗具有重要意义。
28名患有胱氨酸病的儿童和24名对照参与者（年龄范围8至17岁）接受了选定的Delis-Kaplan执行功能系统测试，以对EF进行神经心理学评估，参与者的父母完成了执行功能行为评定量表。
在所有检查的Delis-Kaplan执行功能系统指标以及执行功能元认知指数和整体执行综合评分的行为评定量表上，患有胱氨酸病的参与者表现明显比对照组差。
EF是胱氨酸病潜在的风险领域。我们的数据不仅对受影响儿童和青少年在学校和日常生活中的功能有影响，而且对疾病管理和治疗依从性也有影响。我们的研究结果有助于干预措施的设计和实施，并加深对胱氨酸病脑-行为关系的理解。
