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Preliminary Study of Neurodevelopmental Outcomes and Parenting Stress in Pediatric Mitochondrial Disease
1Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Republic of Korea.
Insights
Children with mitochondrial diseases show significant delays in cognitive and psychomotor development, with many experiencing behavioral issues. Their mothers report increased parenting stress and depression, highlighting the need for early support.
Area of Science:
- Pediatric Neurology
- Neuropsychology
- Mitochondrial Diseases
Background:
- Neuropsychological profiles of pediatric mitochondrial disease patients and their parents are poorly understood.
- This knowledge gap impacts the quality of life (QOL) for affected children and families.
- Understanding these profiles is crucial for developing effective interventions.
Purpose of the Study:
- To delineate neurodevelopmental and psychological comorbidities in children with mitochondrial diseases.
- To investigate factors influencing these profiles.
- To inform strategies for improving QOL for patients and parents.
Main Methods:
- Neuropsychological evaluation of 70 children diagnosed with mitochondrial diseases.
- Analysis of neurocognitive (development, intelligence) and psychological (behavior, daily living, maternal depression, parenting stress) functions.
- Review of clinical variables including disease onset, epilepsy, organ involvement, and MRI findings.
Main Results:
- Significant delays in cognitive and psychomotor development were observed pre-diagnosis.
- Children exhibited mild intellectual disability and borderline verbal IQ impairment.
- Mothers reported increased parenting stress and high rates of depression (65%); early symptom onset, brain atrophy, and drug-resistant epilepsy correlated with poorer outcomes.
Conclusions:
- A comprehensive understanding of prediagnostic neurodevelopmental and psychological profiles is essential.
- This understanding is key to providing adequate support and improving QOL for children with mitochondrial diseases and their families.
- Early identification and intervention are critical for mitigating negative impacts.
Background:
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.
Methods:
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.
Results:
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.
Conclusion:
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.
