Folate Metabolism Gene Polymorphisms and Risk for Down Syndrome Offspring in Turkish Women

Erdal, Mehmet Emin/0000-0002-6191-2930; Soylemez, Fatma/0000-0002-1939-8691; yildirim, didem derici/0000-0001-7709-6133; derici, didem/0000-0001-7709-6133; Ay, Mustafa Ertan/0000-0002-6152-7450;WOS: 000352344400006PubMed: 25671679Aims: Down syndrome (DS) is the most common chromosomal abnormality. Many studies have assessed the association between maternal gene polymorphisms involved in folate metabolism and the risk of having a DS offspring, but data are conflicting. Six common polymorphisms in folate-metabolizing genes were analayzed to determine possible risk factors for a child to be born having DS (DS mothers); these samples were taken from 47 Turkish mothers having DS children (case group) and 49 control mothers. Investigated polymorphisms include methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133), A1298C (rs1801131), methionine synthase reductase (MTRR) A66G (rs1801394), methylenetetrahydrofolate dehydrogenase (MTHFD1) G1958A (rs2236225), reduced folate carrier (RFC1) A80G (rs1051266), and cystathionine beta-synthase (CBS) 844ins68. Results: The frequency of the MTHFR 677C allele in DS mothers (79.8%) was significantly higher than in controls (66.3%), with a 0.499-fold increased risk of having a DS offspring (p=0.038 and 95% confidence interval [CI], 0.259-0.961). Mothers with the MTHFD1 1958A allele had a 1.880-fold increased risk of having a child with DS (p=0.031 and 95% CI, 1.060-3.335). No significant association was found for the other polymorphic variants in this study. Gene-gene interactions were not statistically significant. Conclusion: Polymorphic variants of the enzymes involved in folate metabolism may play an important role in determining the susceptibility of having a DS offspring. The gene-nutrition, gene-gene interactions and ethnicity are important variables to be considered in future studies.Mersin University of Scientific FoundationMersin University [BAP-TF TTB 2009-2]This study was supported by the Mersin University of Scientific Foundation (BAP-TF TTB 2009-2). Ethics committee consent was obtained from the Local Ethics Committee of Mersin University. The authors thank all those who participated in the study, the IZEM Rehabilitation Center, particularly all the personnel at the IZEM and Metin Ugur Sarikaya Rehabilitation Center in Mersin

Predictors of Severe and Permanent Disability in Children Evaluated in Health Boards: A Single-Center Study

Aim: The aim of this study is to determine the severe and permanent disability of the childrenevaluated in the disabled health boards and to evaluate the predictors of severe and permanentdisability.Material and Methods: Records of 1482 children who were referred to a university hospitalhealth board for disability between the years 2013-2018 were screened retrospectively.Results: More than half (52.2%) of the children had a single psychopathology. 83.5% of thecases were severely disabled and 66.5% were permanently disabled. Severely disabled childrenwere significantly more likely to have psychiatric, pediatric, neurological, orthopedic andotorhinolaringologic disorders. Permanent disability was significantly more frequent amongpatients with pediatric, ophthalmologic and cardiac disorders while children withpsychopathologies were significantly less likely to have permanent disability. Mentalretardation/intellectual developmental disorder levels differed in rates of permanent disabilitywith pair-wise comparisons revealing that severe mental retardation/intellectualdevelopmental disorder was the main factor. Severe disability was significantly more commonamong children younger than 8 years while permanent disability was more common amongchildren >3 years. Children with psychopathology were 4.1 times more likely to have severedisability and this further increased to 15.3 for those with mental retardation/intellectualdevelopmental disorder.Conclusion: This is the first study to evaluate the factors that affecting the decisions ofpermanent and severe disabilities in disability health boards. Comprehensive results have beenachieved despite low generalizability. To provide consistent reports, further and multicenterstudies on factors associated with severe and permanent disabilities in children are needed

Predictors of Severe and Permanent Disability in Children Evaluated in Health Boards: A Single-Center Study

Aim: The aim of this study is to determine the severe and permanent disability of the childrenevaluated in the disabled health boards and to evaluate the predictors of severe and permanentdisability.Material and Methods: Records of 1482 children who were referred to a university hospitalhealth board for disability between the years 2013-2018 were screened retrospectively.Results: More than half (52.2%) of the children had a single psychopathology. 83.5% of thecases were severely disabled and 66.5% were permanently disabled. Severely disabled childrenwere significantly more likely to have psychiatric, pediatric, neurological, orthopedic andotorhinolaringologic disorders. Permanent disability was significantly more frequent amongpatients with pediatric, ophthalmologic and cardiac disorders while children withpsychopathologies were significantly less likely to have permanent disability. Mentalretardation/intellectual developmental disorder levels differed in rates of permanent disabilitywith pair-wise comparisons revealing that severe mental retardation/intellectualdevelopmental disorder was the main factor. Severe disability was significantly more commonamong children younger than 8 years while permanent disability was more common amongchildren >3 years. Children with psychopathology were 4.1 times more likely to have severedisability and this further increased to 15.3 for those with mental retardation/intellectualdevelopmental disorder.Conclusion: This is the first study to evaluate the factors that affecting the decisions ofpermanent and severe disabilities in disability health boards. Comprehensive results have beenachieved despite low generalizability. To provide consistent reports, further and multicenterstudies on factors associated with severe and permanent disabilities in children are needed