Preliminary Study of Neurodevelopmental Outcomes and Parenting Stress in Pediatric Mitochondrial Disease

Eom, Soyong; Lee, Young Mock

doi:10.1016/j.pediatrneurol.2017.01.019

Cited by 21 publications

(47 citation statements)

References 31 publications

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“…The number of children included in these studies ranged from 14 (20) to 112 individuals (18). Two studies were carried out in the Netherlands (17,19), two in the Republic of Korea (21,22), two in the USA (20,23), and one in the UK (18). Quantitative data obtained from psychometric tests were available in only six of these studies ( Table 1) (19)(20)(21)(22)(23).…”

Section: Resultsmentioning

confidence: 99%

“…In the study performed by Eom et al (21), 28 children with behavioral disorders were tested using the CBCL. The most severe features reported in this study were withdrawal, social problems, attention deficit, sleep disorders, and emotional response.…”

Section: Psychiatric Features Of Mitochondrial Diseasesmentioning

confidence: 99%

“…The neuropsychological profiles of children and adolescents with MDs has been analyzed in five studies (18,(20)(21)(22)(23), the main results of which are shown in Table 1. However, only four of these studies used specific scales to evaluate the neuropsychological profiles of affected children.…”

Section: Neuropsychological Features Of Mitochondrial Diseasesmentioning

confidence: 99%

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Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review

et al. 2020

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Mitochondrial diseases (MDs) are a group of clinically heterogeneous genetic disorders that arise as the result of dysfunctional mitochondria. Only few medical articles deal with neuropsychological or psychiatric aspects of MDs. Aim: The present article aims to provide a systematic review of neuropsychological and psychiatric aspects of MDs. Methods: In order to identify all studies dealing with psychiatric and neuropsychological aspects of MDs in children and adolescents, we performed a search in the medical literature between April 2009 and April 2019 using PubMed, Cochrane, and Web of Science and we defined inclusion and exclusion criteria. Results: We found only seven studies that satisfy the inclusion requirements and criteria. The main psychiatric aspects reported in MDs were depressive and behavioral disorders. With regard to the neuropsychological aspects of MDs, developmental analyses showed an overall deterioration and developmental delay. Interpretation: Children and adolescents with MDs may present psychiatric symptoms and neuropsychological impairment. A more systematic investigation of psychiatric and neuropsychological features of MDs is needed to foster a better understanding of the phenotype of these diseases and their links with the genotype, which may have significant implications for the developmental trajectories of patients.

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Section: Resultsmentioning

confidence: 99%

Section: Psychiatric Features Of Mitochondrial Diseasesmentioning

confidence: 99%

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Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review

et al. 2020

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“… 2 These conditions can cause numerous phenotypes and genotypes of mitochondrial diseases, leading to the involvement of multiple organs, with variations in the extent and severity of the manifestations, as well as different clinical outcomes. 3 Because of this complexity, mitochondrial disease may present with any symptom in any organ at any age. 4 …”

Section: Introductionmentioning

confidence: 99%

Ophthalmoplegia in Mitochondrial Disease

Lee

Han

et al. 2018

Yonsei Med J

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PurposeTo evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease.Materials and MethodsAmong 372 patients with mitochondrial disease who visited our hospital between January 2006 and January 2016, 21 patients with ophthalmoplegia were retrospectively identified. Inclusion criteria included onset before 20 years of age, pigmentary retinopathy, and cardiac involvement. The 16 patients who were finally included in the study were divided into three groups according to disease type: Kearns-Sayre syndrome (KSS), KSS-like, and chronic progressive external ophthalmoplegia (CPEO).ResultsThe prevalences of clinical findings were as follows: ptosis and retinopathy, both over 80%; myopathy, including extraocular muscles, 75%; lactic acidosis, 71%; and elevated levels of serum creatine kinase, 47%. Half of the patients had normal magnetic resonance imaging findings. A biochemical enzyme assay revealed mitochondrial respiratory chain complex I defect as the most common (50%). The prevalence of abnormal muscle findings in light or electron microscopic examinations was 50% each, while that of large-scale mitochondrial DNA (mtDNA) deletions in a gene study was 25%. We compared the KSS and KSS-like groups with the CPEO patient group, which showed pigmentary retinopathy (p<0.001), cardiac conduction disease (p=0.013), and large-scale mtDNA deletions (p=0.038). KSS and KSS-like groups also had gastrointestinal tract disorders such as abnormal gastrointestinal motility (p=0.013) unlike the CPEO group.ConclusionPatients with KSS had gastrointestinal symptoms, which may indicate another aspect of systemic involvement. The presence of large-scale mtDNA deletions was an objective diagnostic factor for KSS and a gene study may be helpful for evaluating patients with KSS.

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“…Mitochondrial disease is a clinically heterogeneous, multisystem disorder that represents a major cause of neurometabolic disorders during childhood 3) . Many patients with mito chondrial disease exhibit central nervous system (CNS) dysfunction, particularly in the form of epilepsy 4) .…”

Section: Introductionmentioning

confidence: 99%

Age-Based Characteristics of West Syndrome in Patients with Mitochondrial Disease

Choi¹,

Baek²,

Na³

et al. 2018

Child Neurol

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West syndrome is a severe form of age-specific epilepsy that typically affects infants younger than 2 years of age with mitochondrial disease. We aimed to examine age-specific characteristics of the syndrome in these patients. Methods: We retrospectively analyzed 54 patients with West syndrome diagnosed with mitochondrial disease between March 2006 and March 2016. We compared treatment strategies and diagnostic and clinical variables between patients with early-onset (<6 months of age) and late-onset (≥6 months of age) seizures. Results: Seizure was the first symptom in 30 (90.9%) and 13 (65%) patients of the early-onset and late-onset groups, respectively (P=0.046). Delayed development was observed in 3 (9.1%) and 7 (35%) patients of the early-onset and late-onset groups, respectively (P=0.023). Lactate levels were normal in 17 patients (55%) of the early-onset group and 5 (25%) of the late-onset group (P=0.036), while initial brain magnetic resonance imaging (MRI) findings were normal in 23 (67.6%) and 8 (40%) patients of the early-onset and late-onset groups, respectively. Final MRI findings were abnormal in 32 patients (94.1%) of the early-onset group and 18 (90%) of the late-onset group (P=0.036). Although ketogenic diets reduced seizure frequency in both groups, the difference was not significant. Conclusion: There is no significant difference in epilepsy-related variables when patients are divided based on a cutoff age of 6 months. However, differences in the first symptom at onset and MRI findings were observed. Although lactate levels were not of significant diagnostic value in the early-onset group, they may be in the lateonset group.

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Preliminary Study of Neurodevelopmental Outcomes and Parenting Stress in Pediatric Mitochondrial Disease

Cited by 21 publications

References 31 publications

Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review

Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review

Ophthalmoplegia in Mitochondrial Disease

Age-Based Characteristics of West Syndrome in Patients with Mitochondrial Disease

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