The effect of apoprotein E gene polymorphism on neurocognitive functions of children with CHD
Tugba Bedir Demirdag1, Kivilcim Gucuyener2, A Sebnem Soysal2
1Faculty of Medicine, Department of Pediatric Infectious Diseases, Gazi University, Ankara, Turkey.
Insights
Children with congenital heart disease (CHD) face neurodevelopmental risks. This study links Apo E gene polymorphism to cognitive outcomes in these children, identifying specific genetic associations with poorer verbal scores.
Area of Science:
- Pediatric Cardiology
- Neurodevelopmental Pediatrics
- Human Genetics
Background:
- Congenital heart disease (CHD) is linked to neurodevelopmental delays.
- Factors contributing to delays include reduced oxygen, cardiac procedures, and genetic predispositions.
- Apolipoprotein E (Apo E) gene polymorphism is a potential genetic factor influencing neurodevelopment.
Purpose of the Study:
- To investigate the impact of Apo E gene polymorphism on neurodevelopment in children with CHD.
- To correlate psychometric evaluation results with Apo E gene polymorphism in this cohort.
Main Methods:
- 188 children with CHD were enrolled.
- Apo E gene polymorphism was determined for each patient.
- Psychometric evaluations were conducted, and results were analyzed against gene polymorphism data.
Main Results:
- Patients with cyanotic CHD exhibited poorer neurodevelopmental scores compared to acyanotic counterparts.
- Apo E ε2 allele carriers showed lower verbal scores than ε4 carriers on the Wechsler Intelligence Scale for Children-Revised.
- Children with Ventricular Septal Defect (VSD) had worse test scores than other acyanotic patients.
- The study highlights increased risk for neuropsychiatric disorders in children with CHD.
Conclusions:
- Apo E gene polymorphism influences neurodevelopmental outcomes in children with CHD.
- Specific alleles (ε2) and conditions (VSD) are associated with particular cognitive deficits.
- Children with CHD are at elevated risk for neuropsychiatric disorders, warranting further investigation and targeted support.
Abstract:
Studies have demonstrated an association between CHD and neurodevelopmental delay. This delay is associated with many factors like reduced blood flow and oxygen, cardiac catheterisations, and genetic factors. Apo E gene polymorphism is one of these genetic factors. This study aims to show the effect of Apo E gene polymorphism on neurodevelopmental process in children having CHD. A total of 188 children having CHD were admitted to the study. Apo E gene polymorphism of these patients was determined, and psychometric evaluation was performed. The relationship between psychometric test results and gene polymorphism was evaluated. This study shows that, similar to the literature, patients having cyanotic CHD have worse scores than acyanotic patients, and the children with CHD are under risk in terms of neuropsychiatric disorders. Other novel and important findings of this study were the lower verbal scores of ε2 allele carriers than ε4 carriers in Wechsler Intelligence Scale for Children-Revised group and the worse test score of patients having VSD than other acyanotic patients. Besides, some special disorders may be seen in this patient group.
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