Abstract
Introduction: Methylenetetrahydrofolate reductase (MTHFR) gene mutation is a prevalent and significant risk factor for neural signalling and functioning in children with autism spectrum disorder (ASD). A distinct electroencephalogram (EEG) endophenotype for MTHFR gene mutation, a 4.5Hz parieto-temporally generated peak, has been suggested, but its precision has not been validated.
Methods: The charts of children with ASD were retrieved from an outpatient clinic. A retrospective review of the patient's EEG for a prominent bilateral parieto-temporal 4.5Hz peak and the recorded MTHFR gene mutation status, i.e., MTHFR 677C>T and 1298A>C subtypes were conducted in April 2024.
Results: Of the 44 cases reviewed, the clinical charts for 29 patients (70%) included information on MTHFR mutation status. Of these 29 cases, 4 patients (14%) had a medical history of MTHFR gene mutation, while 25 patients (86%) without knowledge of a mutation completed a polymerase chain reaction (PCR) screening. Of the 25 patients screened, 20 patients (80%) were positive for 677C>T, 1298A>C or both. Therefore, EEG had an 80% precision in identifying MTHFR gene polymorphism in children with ASD.
Conclusion: Preliminary data support the precision of the proposed spectrally distinct EEG endophenotype and its potential clinical applications as a valuable and non-invasive screening tool for MTHFR gene mutation in children with ASD.
Ethics statement: This study received ethics approval in February 2023 from the University of Southern Queensland, Australia, with the number H22REA043 (v1).