Genetic Counseling for Families with Sporadic Intellectual Disability in North of Iran: A Retrospective Study

Authors

1 Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran.

2 Student Research Committee, Mazandaran University of Medical Sciences, Sari, Iran.

3 State Welfare Organization of Mazandaran province, Sari, Iran.

4 Department of ClinicalBiochemistry and Genetics, Molecular and Cell Biology Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.

5 Gorgan Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran.

6 Department of Clinical Biochemistry and Genetics, Faculty of Medicine ,Mazandaran University of Medical Sciences (MazUMS, Sari, Iran)

Abstract

Background: Intellectual disability (ID) is a heterogeneous disorder in which at least 600 genes play a role. Here, we aimed to identify the importance of genetic counseling and consanguinity marriage in Iranian families with sporadic mental disability.
Materials and methods: In this retrospective cross-sectional study, we examined 151 families with sporadic mental disability referred for genetic consultation to the Welfare center of Sari city.
Results: About 41.05% (n=62) were from consanguinity marriage. In this study, it was found that other diseases with ID are also present. The following four types of consultations were also reviewed, most of which were diagnostic counseling (DC) (60%). Inheritance pattern analysis revealed that the share of non-hereditary cases was higher than the share of hereditary and unknown cases. In this study,the results showed a significant difference between consanguinity marriages and potential genetic etiology ID (P=0.012).In addition,there was no significant difference between other groups.
 Conclusion: In this study, we highlighted the importance of genetic counseling and found that consanguinity marriage was a key factor in the development of the disease our society. Therefore, given the high cost of genetic tests and socio-economical problem, it is wise to include genetic counseling to prevent many diseases such as mental disability before birth.

Keywords