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

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

4 Sari Genetic Counseling Center, Welfare Office, Mazandaran, Iran.

5 Gorgan Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran AND Stem Cell Research Center, Golestan University of Medical Sciences, Gorgan, Iran AND Ischemic Disorders Research Center, Golestan University of Medical Sciences, Gorgan, Iran.

Abstract

Background
Intellectual Disability (ID) is a heterogeneous disorder, in which at least 600 genes participate. The present study aimed to identify the effect 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 a sporadic mental disability referred for genetic consultation to the Welfare Center of Sari city, North of Iran.
Results: About 41.05% (n=62) of the cases were consanguinity marriage. In this study, other diseases were also observed with ID. The following four types of consultations were also reviewed, most of which were Diagnostic Counseling (DC) (60%). According to the inheritance pattern analysis, the share of non-hereditary cases was higher compared to the share of hereditary and unknown cases. The results of the present study showed a significant difference between consanguinity marriages and potential genetic etiology ID (P=0.012). Besides, 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 in our society. Therefore, given the high cost of genetic tests and socio-economic problems, it is wise to include genetic counseling to prevent many diseases such as mental disability before birth.

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