Abstract
Aim: to show the effect of genetically determined folate cycle deficiency in children with autism spectrum disorders (ASD).
 Participants: 89 children (57 boys; 32 girls, Ukraine, 2-10 years old); participants were diagnosed with ASD. The control group consisted of 34 children with ASD.
 Diagnostic methods:polymerase chain reaction (PCR), complex immunological research, diagnosis of infection, determination of biomarkers.
 Results and discussion:Hyperhomocysteinemia was revealed in 87% of cases (p <0.05; Z <Z0.05).The indicated form of immunodeficiency was noted among 91% participants in the study, while only in 27% children of the control group had a similar immunological phenotype.The serum concentration of folic acid was increased in 64%, and reduced in 21% of cases. An increase of vitamin B12 also occurred in 64%, and vitamin B6 - only in 43% of cases.
 Bangladesh Journal of Medical Science Vol.19(4) 2020 p.737-742
Highlights
In recent decades, ideas about the genetic heterogeneity of autistic spectrum disorders in humans have become firmly established[1]
Research results and discussion Genetic research The genetic testing results indicate that the majority in the group of sick children had 2-4 polymorphisms in the folate cycle enzyme (88% of cases), and the ratio of heterozygous and homozygous states can be represented as 1.2 to 1.0
The basis of the identified immunodeficiency was a sharply reduced number of lymphocytes with the CD3 – CD16 + CD56 + phenotype, called natural killers (NK), and the CD3 + CD16 + CD56 + phenotype, called natural killer T-cell(NKT) in peripheral blood. These minority subpopulations are extremely important in the implementation of antiviral and antitumor immunity.The indicated form of immunodeficiency was noted among 91% participants in the study, while onlyin 27% children of the control group had a similar immunological phenotype
Summary
Ideas about the genetic heterogeneity of autistic spectrum disorders in humans have become firmly established[1]. The goal is to identify the effect of genetically determined folate cycle deficiency in children with autism spectrum disorders (ASD). Research results and discussion Genetic research The genetic testing results indicate that the majority in the group of sick children had 2-4 polymorphisms in the folate cycle enzyme (88% of cases), and the ratio of heterozygous and homozygous states can be represented as 1.2 to 1.0. In 12% of cases patients had one polymorphism, mainly in a homozygous state (Table 1) Those children had other genetic disorders that affect their mental development, namely Leigh syndrome (1 case), Rett syndrome(1 case) and DSN (1 case), as well as hemochromatosis (1 case) and mutations in NOS (2 cases). Table 1The structure of the study group (n = 89) by the number of polymorphisms of the folate cycle enzyme
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
