Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis
Author Information
Author(s): Weissman Jacqueline R., Kelley Richard I., Bauman Margaret L., Cohen Bruce H., Murray Katherine F., Mitchell Rebecca L., Kern Rebecca L., Natowicz Marvin R.
Primary Institution: Cleveland Clinic Lerner College of Medicine
Hypothesis
Is there a significant association between mitochondrial disorders and autism spectrum disorders in children?
Conclusion
The study found that children with autism spectrum disorders and mitochondrial dysfunction exhibit distinct clinical features that differentiate them from those with idiopathic autism.
Supporting Evidence
- 24 out of 25 patients had major clinical abnormalities uncommon in idiopathic autism.
- 21 patients had significant non-neurological medical problems.
- 19 patients exhibited excessive fatigability.
- 15 patients had abnormal neurological findings.
- 76% of patients had increased blood lactate levels.
Takeaway
Some kids with autism have problems with their energy production, which makes them different from other kids with autism.
Methodology
The study involved a review of medical records of 25 patients diagnosed with autism and mitochondrial dysfunction, assessing clinical and biochemical data.
Limitations
The study's findings may not be generalizable due to the specific cohort and the retrospective nature of the analysis.
Participant Demographics
The cohort included 25 patients, 13 males and 12 females, aged 2 to 20 years.
Digital Object Identifier (DOI)
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