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Sayyedin S Y, Farid M, Jazayeri R. Investigation of frequency of genetic causes of intellectual disability in Alborz province. aumj 2025; 14 (1) :92-98
URL: http://aums.abzums.ac.ir/article-1-1829-en.html
URL: http://aums.abzums.ac.ir/article-1-1829-en.html
1- Faculty of Medicine, Alborz University of Medical Sciences, Karaj, Iran
2- Department of Social Medicine, Faculty of Medicine, Alborz University of Medical Sciences, Karaj, Iran
3- Department of Genetics, Faculty of Medicine, Alborz University of Medical Sciences, Karaj, Iran ,roshanakjazayeri@gmail.com
2- Department of Social Medicine, Faculty of Medicine, Alborz University of Medical Sciences, Karaj, Iran
3- Department of Genetics, Faculty of Medicine, Alborz University of Medical Sciences, Karaj, Iran ,
Abstract: (896 Views)
Objective: Intellectual disability has genetic causes in over 50% of cases. This study aimed to determine the frequency of genetic causes of intellectual disability and to assist in genetic counseling and prenatal diagnosis of this condition in Karaj city.
Methods: In this cross-sectional descriptive study, 390 cases with at least one instance of intellectual disability among first-degree or more distant relatives were examined. Information regarding the probable inheritance pattern, gender, family history, parental consanguinity, clinical diagnosis, prenatal diagnosis, type, and results of genetic testing was extracted. Data were entered into SPSS software version 23. Descriptive statistics, including central tendency and dispersion measures, along with tables and charts, were used for analysis.
Results: The highest frequency of inheritance patterns was observed in sporadic cases that do not follow any of the common and recognized patterns (autosomal dominant, autosomal recessive, X-linked, and chromosomal). Following this, the most common inheritance pattern was autosomal recessive, accounting for 143 individuals (36.7% of participants). The number of individuals with chromosomal, autosomal dominant, and X-linked inheritance patterns were 11 (2.8%), 10 (2.6%), and 3 (0.8%), respectively, indicating that X-linked inheritance had the lowest frequency.
Conclusion: Based on the results of this study, intellectual disability is highly heterogeneous, with autosomal recessive inheritance being a common genetic cause of intellectual disability in Karaj County. Therefore, genetic counseling is crucial in preventing intellectual disabilities in families with a history of disabilities.
Methods: In this cross-sectional descriptive study, 390 cases with at least one instance of intellectual disability among first-degree or more distant relatives were examined. Information regarding the probable inheritance pattern, gender, family history, parental consanguinity, clinical diagnosis, prenatal diagnosis, type, and results of genetic testing was extracted. Data were entered into SPSS software version 23. Descriptive statistics, including central tendency and dispersion measures, along with tables and charts, were used for analysis.
Results: The highest frequency of inheritance patterns was observed in sporadic cases that do not follow any of the common and recognized patterns (autosomal dominant, autosomal recessive, X-linked, and chromosomal). Following this, the most common inheritance pattern was autosomal recessive, accounting for 143 individuals (36.7% of participants). The number of individuals with chromosomal, autosomal dominant, and X-linked inheritance patterns were 11 (2.8%), 10 (2.6%), and 3 (0.8%), respectively, indicating that X-linked inheritance had the lowest frequency.
Conclusion: Based on the results of this study, intellectual disability is highly heterogeneous, with autosomal recessive inheritance being a common genetic cause of intellectual disability in Karaj County. Therefore, genetic counseling is crucial in preventing intellectual disabilities in families with a history of disabilities.
Keywords: Intellectual disability, Genetic Causes, Genetic Counseling, Autosomal Recessive Inheritance, Prenatal Diagnosis
Type of Study: Original |
Subject:
Special
Received: 2024/07/09 | Accepted: 2024/08/10 | Published: 2024/12/30
Received: 2024/07/09 | Accepted: 2024/08/10 | Published: 2024/12/30
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