Combination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism

• Published in: Journal of molecular neuroscience 2024-01, Vol.74 (1), p.1-1, Article 1
• Main Authors: Stefanyshyn, Volodymyr, Sheiko, Makar, Pyantkovska, Natalia, Stetsyuk, Roman, Pokhylko, Valeriy, Fishchuk, Liliia, Rossokha, Zoia
• Format: Article
• Language: English
• Subjects: Antibodies; Autism; Autism Spectrum Disorder - genetics; Autistic Disorder - genetics; Biomedical and Life Sciences; Biomedicine; Cell Biology; Child, Preschool; Children; Chromosome 15; Chromosome deletion; Chromosomes; Cognition; Cognitive ability; Customization; DNA methylation; Folic Acid; Genetic screening; Health services; Humans; Hyperhomocysteinemia; Male; Mental development; Metabolic disorders; Metabolic pathways; Metabolism; Metabolites; Methylenetetrahydrofolate reductase; Neurochemistry; Neurology; Neurosciences; Patients; Phenotypes; Proteomics; Receptors
• ISSN: 1559-1166; 0895-8696; 1559-1166
• DOI: 10.1007/s12031-023-02183-2

Autistic spectrum disorders (ASD) in children are becoming increasingly common, reaching epidemic proportions. Among the various causes contributing to the development of ASD, the leading place belongs to both chromosomal pathologies and genetic syndromes and their consequence — metabolic imbalance or severe metabolic disorders. Depending on the degree of metabolic pathway damage, certain phenotypes of ASD are formed. A deletion of ~3.1 Mb of chromosome 15q24 was detected in the examined 2-year-old boy with a “mild phenotype” of autism without an obvious delay in mental development. A wide range of additional studies included genetic testing of folate metabolism genes and analysis of metabolites of the methylation cycle and detection of antibodies to folic acid alpha receptors. A heterozygous variant of the MTHFR gene (rs1801133), moderate hyperhomocysteinemia, hypermethylation, and an increased titer of antibodies to alpha receptors of folic acid were revealed in the patient. This clinical case indicates the need for a multifaceted clinical and laboratory examination in children with ASD to identify the metabolic phenotype and prescribe personalized treatment. A personalized treatment strategy will improve the cognitive functions, psycho-emotional state, and social adaptation of individuals with ASD in the long term.”