Systematic Reviews
Copyright ©The Author(s) 2024.
World J Clin Pediatr. Jun 9, 2024; 13(2): 92737
Published online Jun 9, 2024. doi: 10.5409/wjcp.v13.i2.92737
Table 3 The prevalence, causes, impact, symptoms, diagnosis, management, challenges, and ongoing research related to mitochondrial metabolic disorders in individuals with autism spectrum disorder
Aspect
Mitochondrial metabolic disorders in ASD
OverviewMitochondria are cellular structures responsible for generating energy (ATP). High mitochondrial density in muscle and brain cells
Prevalence and causesIncreased prevalence of mitochondrial dysfunction in ASD compared to the general population. Can result from genetic mutations, environmental factors, or both
EvidenceAbout 80% of children with ASD show blood test indications of mitochondrial dysfunction and DNA abnormalities. Estimates of co-occurrence range from 5% to 80%
Contributing factorsGenetic mutations; Dietary deficiencies; Chemical and heavy metal exposure; Certain drugs; Bacterial and viral infections; Stressful conditions
Impact on ASDInsufficient ATP production can affect synaptic plasticity, neuronal development, signaling, and maintenance. Oxidative stress and damage to cellular components may occur. Disruption of metabolic processes can further impact ASD development
Symptoms and diagnosisSymptoms include delays in developmental milestones, impaired language and communication, motor difficulties, cognitive impairments, behavioral abnormalities, seizures, and gastrointestinal issues. Diagnosis involves comprehensive clinical assessments, biochemical analyses, genetic testing, and specific diagnostic criteria. Laboratory tests may include blood tests, urine tests, DNA analysis, brain imaging, and muscle biopsy
Management and treatmentTreatment strategies may include dietary interventions, nutritional supplements, antioxidants, and medications targeted at specific symptoms. A multidisciplinary approach involving healthcare professionals from various specialties is necessary for accurate diagnosis and management
Challenges and ongoing researchDiagnosis can be challenging due to overlapping symptoms and lack of specific criteria. The effectiveness of interventions in improving ASD symptoms associated with mitochondrial dysfunction is still under research