Radboud Center for Mitochondrial Medicine, Department of Medical Psychology, Radboud Institute for Health Sciences, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Center for Neuropsychological Expertise, Denkkracht, Nijmegen, The Netherlands.
Orphanet J Rare Dis. 2022 Oct 1;17(1):368. doi: 10.1186/s13023-022-02510-7.
Studies regarding cognitive and mental health functioning in children with mitochondrial disease (MD) are scarce, while both are important issues given their impact on QoL. Knowledge on these aspects of functioning and its relationship with disease parameters is essential to gather more insight in working mechanisms and provide recommendations for future research and patientcare. The aim of this study was to map the cognitive functioning and mental health in children with MD in relation to disease specific factors.
Pediatric patients (< 18 year) with a genetically confirmed MD were included. Demographic and disease specific factors (International Paediatric Mitochondrial Disease Scale) were assessed, as well as cognitive functioning (intelligence, attention, working memory (WM)), and mental health (psychological functioning and quality of life). Individual patient data was described.
Thirty-three children with MD were included. Intellectual functioning ranged from a clinically low IQ (36% of the patients, N = 12/33) to an average or above average IQ (39%, N = 13/33). A higher verbal versus performance IQ was observed (36% N = 5/14), a lower processing speed (43%, N = 6/14), attentional problems (50%, N = 7/14), and verbal WM problems (11%, N = 2/18). Regarding mental health, general behavioral problems were reported (45%, N = 10/22), and on subscale level, attention problems (45%, N = 10), withdrawn/depressed (36%, N = 8/22) and anxious/depressed behavior (14%, N = 3/22). Furthermore, QoL impairments were reported (42%, N = 5/12). The specific intelligence profiles, cognitive impairments, behavioral problems and QoL impairments occurred in every intelligence subgroup. Children with an average or above general intellectual functioning had a generally lower and less variability in IPMDS scores, less frequently epilepsy, vision and hearing problems, and a relatively later age of onset, as compared to patients with a clinically low intellectual functioning.
Despite considerable heterogeneity, overall results showed a high rate of impairments in both cognitive and mental health functioning. Also in children with an average or above level of intellectual functioning, specific cognitive impairments were observed. Children with a clinically low intellectual functioning more often had disease related impairments compared to children with a higher intellectual functioning. The importance of structural assessment of cognitive functioning and mental health is warranted, also in children with mild disease related symptoms.
关于患有线粒体疾病（MD）的儿童的认知和心理健康功能的研究很少，而鉴于其对生活质量的影响，这两个方面都很重要。了解这些功能方面及其与疾病参数的关系对于深入了解工作机制以及为未来的研究和患者护理提供建议至关重要。本研究的目的是绘制与疾病特异性因素相关的 MD 儿童的认知功能和心理健康图。
纳入了经基因证实患有 MD 的儿科患者（<18 岁）。评估了人口统计学和疾病特异性因素（国际儿科线粒体疾病量表），以及认知功能（智力，注意力，工作记忆（WM））和心理健康（心理功能和生活质量）。对每位患者的数据进行了描述。
共纳入 33 名 MD 患儿。智力从临床低智商（36％的患者，N=12/33）到平均或高于平均智商（39％，N=13/33）不等。观察到言语智力与表现智力之间的差异（36％，N=5/14），处理速度较低（43％，N=6/14），注意力问题（50％，N=7/14）和言语 WM 问题（11％，N=2/18）。关于心理健康，报告了一般行为问题（45％，N=10/22），在子量表水平上，注意力问题（45％，N=10），退缩/抑郁（36％，N=8/22）和焦虑/抑郁行为（14％，N=3/22）。此外，还报告了生活质量受损（42％，N=5/12）。在每个智力亚组中都出现了特定的智力特征，认知障碍，行为问题和生活质量受损。与临床低智商的患者相比，具有平均或以上一般智力的儿童的 IPMDS 评分通常较低且变化较小，癫痫发作，视力和听力问题较少，发病年龄相对较晚。
尽管存在相当大的异质性，但总体结果表明认知和心理健康功能均存在较高的受损率。在具有平均或以上智力水平的儿童中，也观察到了特定的认知障碍。与具有较高智力的儿童相比，具有临床低智商的儿童更常患有与疾病相关的障碍。需要对认知功能和心理健康进行结构性评估，即使是在患有轻度疾病相关症状的儿童中也是如此。
