Eom Soyong, Lee Young-Mock
Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Republic of Korea.
Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Pediatr Neurol. 2017 Jun;71:43-49.e1. doi: 10.1016/j.pediatrneurol.2017.01.019. Epub 2017 Feb 2.
Little is known regarding the neuropsychological profiles of pediatric patients with mitochondrial diseases or their parents, information that is crucial for improving the quality of life (QOL) for both patients and parents. We aimed to delineate neurodevelopment and psychological comorbidity in children with mitochondrial diseases in the preliminary investigation of adequate intervention methods, better prognoses, and improved QOL for both patients and parents.
Seventy children diagnosed with mitochondrial diseases were neuropsychologically evaluated. Neurocognitive (development, intelligence) and psychological (behavior, daily living function, maternal depression, parenting stress) functions were analyzed. Clinical variables, including the first symptom, epileptic classification, organ involvement, lactic acidosis, brain magnetic resonance imaging findings, muscle pathology, biochemical enzyme assay results, and syndromic diagnosis of mitochondrial diseases, were also reviewed.
Prediagnostic assessments indicated that cognitive and psychomotor developments were significantly delayed. Group mean full scale intelligence quotient (IQ) scores indicated mild levels of intellectual disability, borderline levels of verbal IQ impairment, and mild levels of intellectual disability on performance IQ. Many children exhibited clinically significant levels of behavioral problems, whereas mothers of children with mitochondrial diseases exhibited significant increases in parenting stress relative to mothers of healthy children. Furthermore, 65% of mothers exhibited significant levels of depression. Early onset of the first symptoms, diffuse brain atrophy, and drug-resistant epilepsy negatively influenced neurodevelopmental and adaptive functions.
Better understanding of the functional levels and profiles of neurodevelopment and psychological comorbidity in children with mitochondrial diseases in the prediagnostic period is essential for adequate support and QOL of children with mitochondrial diseases and their parents.
关于线粒体疾病患儿及其父母的神经心理学特征知之甚少，而这些信息对于提高患者及其父母的生活质量（QOL）至关重要。我们旨在通过初步研究适当的干预方法、更好的预后以及改善患者及其父母的生活质量，来描绘线粒体疾病患儿的神经发育和心理共病情况。
对70名被诊断为线粒体疾病的儿童进行了神经心理学评估。分析了神经认知（发育、智力）和心理（行为、日常生活功能、母亲抑郁、育儿压力）功能。还回顾了临床变量，包括首发症状、癫痫分类、器官受累情况、乳酸酸中毒、脑磁共振成像结果、肌肉病理学、生化酶检测结果以及线粒体疾病的综合征诊断。
诊断前评估表明，认知和精神运动发育明显延迟。组平均全量表智商（IQ）得分显示为轻度智力残疾水平、边缘性言语IQ损害水平以及轻度操作IQ智力残疾水平。许多儿童表现出具有临床意义的行为问题水平，而线粒体疾病患儿的母亲相对于健康儿童的母亲，育儿压力显著增加。此外，65%的母亲表现出显著的抑郁水平。首发症状的早发、弥漫性脑萎缩和耐药性癫痫对神经发育和适应功能产生负面影响。
在诊断前期更好地了解线粒体疾病患儿的神经发育功能水平和特征以及心理共病情况，对于为线粒体疾病患儿及其父母提供充分支持和提高生活质量至关重要。
