[Home ] [Archive]   [ فارسی ]  
:: Main :: About :: Current Issue :: Archive :: Search :: Submit :: Contact ::
Main Menu
Home::
Journal Information::
Indexing Sources::
Editorial Board::
Executive Members::
Articles Archive::
Instruction to Authors::
Peer-Review::
Contact Us::
Site Facilities::
::
Search in website

Advanced Search
Receive site information
Enter your Email in the following box to receive the site news and information.
:: Volume 26, Issue 1 (3-2024) ::
J Gorgan Univ Med Sci 2024, 26(1): 1-16 Back to browse issues page
The Role of Genetic Counseling in the Prevention of Intellectual Disability and Deafness: Two Common Disabilities in Iran
Fatemeh Shahraki1 , Morteza Oladnabi * 2
1- M.Sc in Genetics, Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran.
2- Associate Professor, Gorgan Congenital Malformations Research Center, Department of Human Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran. , oladnabidozin@yahoo.com
Abstract:   (885 Views)

According to the US Centers for Disease Control and Prevention (CDC) definition, genetic counseling is a process in which information is presented about how genetic conditions affect a patient or his/her family. A genetic counselor collects a patient’s personal and family health history to promote the family’s awareness and perception of specific genetic diseases, testing risks and advantages, disease management, and assessment of available therapeutic options. Intellectual disability (ID) and deafness are two common disabilities with considerable impacts on the quality of life of patients and their families. The present research has investigated the role of genetic counseling in the screening and prevention of deafness and ID based on the studies published in the Web of Science, PubMed, and Google Scholar databases between 2015 and 2023. Genetic counseling can be employed as an influential tool in screening, early diagnosis, and prevention of ID and deafness. Considering that many cases of ID and deafness are rooted in individual genetics, genetic counseling can help lessen the risk factors of developing these disabilities and improve the quality of individual and family life. The effect of genetic counseling, as an influential tool, on screening, early diagnosis, and prevention of ID and hearing loss is also assessed.

Keywords: Genetic Counseling [MeSH], Intellectual Disability [MeSH], Hearing Loss [MeSH], Hearing Impairment [MeSH], Iran [MeSH]
Article ID: Vol26-01
Full-Text [PDF 1180 kb]   (1678 Downloads)    
Type of Study: Review Article | Subject: Genetic
References
1. Retief M, Letšosa R. Models of disability: A brief overview. Theological Studies. 2018;74(1):a4738. doi: 10.4102/hts.v74i1.4738. [Link] [DOI]
2. O'Leary L, Cooper SA, Hughes-McCormack L. Early death and causes of death of people with intellectual disabilities: A systematic review. J Appl Res Intellect Disabil. 2018 May;31(3):325-42. doi: 10.1111/jar.12417. [DOI] [PubMed]
3. Soltani S, Khosravi B, Salehiniya H. Prevalence of Disability in Iran. Iran J Public Health. 2015 Oct;44(10):1436-37. [PubMed]
4. Mehregan H, Najmabadi H, Kahrizi K. Genetic Studies in Intellectual Disability and Behavioral Impairment. Arch Iran Med. 2016 May;19(5):363-75. [PubMed]
5. Kazeminasab S, Taskiran II, Fattahi Z, Bazazzadegan N, Hosseini M, Rahimi M, et al. CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):691-99. doi: 10.1002/ajmg.b.32648. [DOI] [PubMed]
6. Patel DR, Cabral MD, Ho A, Merrick J. A clinical primer on intellectual disability. Transl Pediatr. 2020 Feb;9(Suppl 1):S23-S35. doi: 10.21037/tp.2020.02.02. [DOI] [PubMed]
7. Jeevanandam L. Perspectives of intellectual disability in Asia: epidemiology, policy, and services for children and adults. Curr Opin Psychiatry. 2009 Sep;22(5):462-68. doi: 10.1097/YCO.0b013e32832ec056. [DOI] [PubMed]
8. Khodabakhshi-Koolaee A, Aghakhani Koshki M, Kalhor N. [Analysis the experiences of mothers in caring of a disabled child: A phenomenological Study]. JPEN 2019;6(2):68-75. [Article in Persian] [Link]
9. Dastaviz F, Hashemi-Soteh MB, Aghabararian P, Zareei S, Dorgaleleh S, Rajabi Vandchali M, et al. Genetic Counseling for Families with Sporadic Intellectual Disability in North of Iran: A Retrospective Study. International Journal of Pediatrics. 2020;8(8):11709-18. doi: 10.22038/ijp.2020.47310.3840. [Link] [DOI]
10. Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, et al. Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet. 2017 Feb;25(2):176-82. doi: 10.1038/ejhg.2016.146. [DOI] [PubMed]
11. Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, et al. Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules. Am J Hum Genet. 2016 Jan;98(1):149-64. doi: 10.1016/j.ajhg.2015.11.024. [DOI] [PubMed]
12. Katz DI, Bernick C, Dodick DW, Mez J, Mariani ML, Adler CH, et al. National Institute of Neurological Disorders and Stroke Consensus Diagnostic Criteria for Traumatic Encephalopathy Syndrome. Neurology. 2021 May;96(18):848-63. doi: 10.1212/WNL.0000000000011850. [DOI] [PubMed]
13. Abdelaziz AW, Abdelmageed RI. An overview of non-genetic intellectual disability among Egyptian children and adolescents. Children and Youth Services Review. 2021 Aug; 127: 106068. doi: 10.1016/j.childyouth.2021.106068. [Link] [DOI]
14. Gordon-Lipkin E, Hoon A, Pardo CA. Prenatal cytomegalovirus, rubella, and Zika virus infections associated with developmental disabilities: past, present, and future. Dev Med Child Neurol. 2021 Feb;63(2):135-43. doi: 10.1111/dmcn.14682. [DOI] [PubMed]
15. Leonard H, Glasson E, Nassar N, Whitehouse A, Bebbington A, Bourke J, et al. Autism and intellectual disability are differentially related to sociodemographic background at birth. PLoS One. 2011 Ma;6(3):e17875. doi: 10.1371/journal.pone.0017875. [DOI] [PubMed]
16. Mann JR, Pan C, Rao GA, McDermott S, Hardin JW. Children born to diabetic mothers may be more likely to have intellectual disability. Matern Child Health J. 2013 Jul;17(5):928-32. doi: 10.1007/s10995-012-1072-1. [DOI] [PubMed]
17. Madlensky L, Trepanier AM, Cragun D, Lerner B, Shannon KM, Zierhut H. A Rapid Systematic Review of Outcomes Studies in Genetic Counseling. J Genet Couns. 2017 Jun;26(3):361-78. doi: 10.1007/s10897-017-0067-x. [DOI] [PubMed]
18. Hashemi-Soteh MB, Nejad AV, Ataei G, Tafazoli A, Ghasemi D, Siamy R. Knowledge and attitude toward genetic diseases and genetic tests among pre-marriage individuals: A cross-sectional study in northern Iran. Int J Reprod Biomed. 2019 Sep;17(8):543-50. doi: 10.18502/ijrm.v17i8.4819. [DOI] [PubMed]
19. Nouri N, Nouri N, Tirgar S, Soleimani E, Yazdani V, Zahedi F, et al. Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations. J Med Ethics Hist Med. 2017 Dec;10:12. [PubMed]
20. Maya I, Sharony R, Yacobson S, Kahana S, Yeshaya J, Tenne T, et al. When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations. Genet Med. 2018; 20:128-31. doi: 10.1038/gim.2017.89. [Link] [DOI]
21. Maya I, Sharony R, Yacobson S, Kahana S, Yeshaya J, Tenne T, et al. When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations. Genet Med. 2018 Jan;20(1):128-31. doi: 10.1038/gim.2017.89. [DOI] [PubMed]
22. Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW. Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022 May;149(5):e2022057010. doi: 10.1542/peds.2022-057010. [DOI] [PubMed]
23. Hagerman R, Berry-Kravis E, Hazlett H, Bailey DB, Moine H, Kooy RF, et al. Fragile X syndrome. Nat Rev Dis Primers. 2017;3:17065. doi: 10.1038/nrdp.2017.65. [Link] [DOI]
24. Kaufmann WE, Kidd SA, Andrews HF, Budimirovic DB, Esler A, Haas-Givler B, et al. Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. Pediatrics. 2017 Jun;139(Suppl 3):S194-S206. doi: 10.1542/peds.2016-1159F. [DOI] [PubMed]
25. Banerjee A, Miller MT, Li K, Sur M, Kaufmann WE. Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. Brain. 2019 Feb;142(2):239-48. doi: 10.1093/brain/awy323. [DOI] [PubMed]
26. Shah RR, Bird AP. MeCP2 mutations: progress towards understanding and treating Rett syndrome. Genome Med. 2017;9:17. doi: 10.1186/s13073-017-0411-7. [Link] [DOI]
27. Sharifinya A, Oladnabi M. [A review on the genetics of autosomal recessive primary microcephaly]. J Gorgan Univ Med Sci 2019; 21(4):1-13. [Article in Persian] [Link]
28. Tan TY, Sedmík J, Fitzgerald MP, Halevy RS, Keegan LP, Helbig I, et al. Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet. 2020 Apr; 106(4): 467-83. doi: 10.1016/j.ajhg.2020.02.015. [DOI] [PubMed]
29. Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, et al. Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2019 Jul;24(7):1027-39. doi: 10.1038/s41380-017-0012-2. [DOI] [PubMed]
30. Leite AJDC, Pinto IP, Leijsten N, Ruiterkamp-Versteeg M, Pfundt R, de Leeuw N, et al. Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil. PLoS One. 2022 Apr; 17(4):e0266493. doi: 10.1371/journal.pone.0266493. [DOI] [PubMed]
31. Toft CLF, Diemer T, Ingerslev HJ, Pedersen IS, Adrian SW, Kesmodel US. Patients' choices and opinions on chorionic villous sampling and non-invasive alternatives for prenatal testing following preimplantation genetic testing for hereditary disorders: A cross-sectional questionnaire study. Prenat Diagn. 2022 Feb;42(2):212-25. doi: 10.1002/pd.6088. [DOI] [PubMed]
32. Rabiee M, Jouhari Z, Pirasteh A. Knowledge of Prenatal Screening, Down Syndrome, Amniocentesis, and Related Factors among Iranian Pregnant Women: A Cross-Sectional Study. Int J Community Based Nurs Midwifery. 2019 Apr;7(2):150-60. doi: 10.30476/IJCBNM.2019.44886. [DOI] [PubMed]
33. Fan Y, Wu Y, Wang L, Wang Y, Gong Z, Qiu W, et al. Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions. BMC Med Genomics. 2018 May;11(1):49. doi: 10.1186/s12920-018-0368-4. [DOI] [PubMed]
34. Oladnabi M, Musante L, Larti F, Hu H, Abedini SS, Wienker T, et al. New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families. Arch Iran Med. 2015 Mar;18(3):179-84. [PubMed]
35. Lee JS, Hwang H, Kim SY, Kim KJ, Choi JS, Woo MJ, et al. Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability. Ann Lab Med. 2018 Sep;38(5):473-80. doi: 10.3343/alm.2018.38.5.473. [DOI] [PubMed]
36. Ilyas M, Mir A, Efthymiou S, Houlden H. The genetics of intellectual disability: advancing technology and gene editing. F1000Res. 2020 Jan;9:F1000 Faculty Rev-22. doi: 10.12688/f1000research.16315.1. [DOI] [PubMed]
37. Vrijenhoek T, Middelburg EM, Monroe GR, van Gassen KLI, Geenen JW, Hövels AM, et al. Whole-exome sequencing in intellectual disability; cost before and after a diagnosis. Eur J Hum Genet. 2018 Nov;26(11):1566-71. doi: 10.1038/s41431-018-0203-6. [DOI] [PubMed]
38. Trpchevska N, Freidin MB, Broer L, Oosterloo BC, Yao S, Zhou Y, et al. Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss. Am J Hum Genet. 2022 Jun; 109(6):1077-91. doi: 10.1016/j.ajhg.2022.04.010. [DOI] [PubMed]
39. Hajilari M, Oladnabi M, Kianmehr A, Taziki MH, Zamiri Abdollahi F. Hereditary Hearing Loss and Consanguinity in Turkmen Population of Iran: A Retrospective Study. International Journal of Pediatrics. 2019;7(11):10323-34. doi: 10.22038/ijp.2019.41740.3519. [Link] [DOI]
40. Mehrjoo Z, Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Ardalani F, et al. Distinct genetic variation and heterogeneity of the Iranian population. PLoS Genet. 2019 Sep;15(9):e1008385. doi: 10.1371/journal.pgen.1008385. [DOI] [PubMed]
41. Batool S, Khan MA, Asghar A, Naseer B, Waheed S, Hussain B. Prevalence of Hearing Loss in Children of Parents with Consanguineous Marriages. Pakistan Journal of Medical & Health Sciences. 2022;16(10):649-51. doi: 10.53350/pjmhs221610649. [Link] [DOI]
42. Oxenham AJ. How We Hear: The Perception and Neural Coding of Sound. Annu Rev Psychol. 2018 Jan;69:27-50. doi: 10.1146/annurev-psych-122216-011635. [DOI] [PubMed]
43. Korver AM, Smith RJ, Van Camp G, Schleiss MR, Bitner-Glindzicz MA, Lustig LR, et al. Congenital hearing loss. Nat Rev Dis Primers. 2017 Jan;3:16094. doi: 10.1038/nrdp.2016.94. [DOI] [PubMed]
44. Nieman CL, Oh ES. Hearing Loss. Ann Intern Med. 2020 Dec;173(11):ITC81-ITC96. doi: 10.7326/AITC202012010. [DOI] [PubMed]
45. Oladnabi M, Hasheminasabgorji E, Mohammadi M, Lotfi S, Hamlevar J, Dastaviz F, et al. [Hereditary and Non-hereditary Pattern of Deafness in Golestan Province, Iran]. J Mazandaran Univ Med Sci 2021;31(199):174-78. [Article in Persian] [Link]
46. Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Sellars E, Nezhadi SH, et al. Iranome: A catalog of genomic variations in the Iranian population. Hum Mutat. 2019 Nov;40(11):1968-84. doi: 10.1002/humu.23880. [DOI] [PubMed]
47. Koffler T, Ushakov K, Avraham KB. Genetics of Hearing Loss: Syndromic. Otolaryngol Clin North Am. 2015 Dec;48(6):1041-61. doi: 10.1016/j.otc.2015.07.007. [DOI] [PubMed]
48. Wémeau JL, Kopp P. Pendred syndrome. Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):213-24. doi: 10.1016/j.beem.2017.04.011. [DOI] [PubMed]
49. Mey K, Bille M, Rye Rasmussen SH, Tranebjærg L, Cayé-Thomasen P. The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct. Otol Neurotol. 2019 Mar;40(3):e178-e185. doi: 10.1097/MAO.0000000000002140. [DOI] [PubMed]
50. Mathur PD, Yang J. Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. Hear Res. 2019 Apr;375:14-24. doi: 10.1016/j.heares.2019.02.007. [DOI] [PubMed]
51. Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R. Treacher Collins Syndrome: Genetics, Clinical Features and Management. Genes (Basel). 2021 Sep;12(9):1392. doi: 10.3390/genes12091392. [DOI] [PubMed]
52. Li X, Su Y, Huang S, Gao B, Zhang D, Wang X, et al. Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome. Acta Otolaryngol. 2019 Jul;139(7):567-75. doi: 10.1080/00016489.2019.1612530. [DOI] [PubMed]
53. Gettelfinger JD, Dahl JP. Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics. J Pediatr Genet. 2018 Mar;7(1):1-8. doi: 10.1055/s-0037-1617454. [DOI] [PubMed]
54. Shearer AE, Hildebrand MS, Schaefer AM, Smith RJH. Genetic Hearing Loss Overview. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al. Gene Reviews. Seattle (WA): University of Washington. 1999. [PubMed]
55. Sheffield AM, Smith RJH. The Epidemiology of Deafness. Cold Spring Harb Perspect Med. 2019 Sep;9(9):a033258. doi: 10.1101/cshperspect.a033258. [DOI] [PubMed]
56. Chang KW. Genetics of Hearing Loss--Nonsyndromic. Otolaryngol Clin North Am. 2015 Dec;48(6):1063-72. doi: 10.1016/j.otc.2015.06.005. [DOI] [PubMed]
57. Beheshtian M, Babanejad M, Azaiez H, Bazazzadegan N, Kolbe D, Sloan-Heggen C, et al. Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review. Arch Iran Med. 2016 Oct;19(10):720-28. [PubMed]
58. Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016 Apr;135(4):441-50. doi: 10.1007/s00439-016-1648-8. [DOI] [PubMed]
59. Babanejad M, Beheshtian M, Jamshidi F, Mohseni M, Booth KT, Kahrizi K, et al. Genetic etiology of hearing loss in Iran. Hum Genet. 2022 Apr;141(3-4):623-31. doi: 10.1007/s00439-021-02421-w. [DOI] [PubMed]
60. Hajilari M, Sharifinya A, Khosravi T, Kianmehr A, Taziki MH, Khosravi A, et al. Frequency of c.35delG Mutation in GJB2 gene in Patients with Autosomal Recessive Non-Syndromic Hearing Loss of Five Ethnic Groups in Golestan, Iran. International Journal of Pediatrics. 2023;11(1):17286-98. doi: 10.22038/ijp.2023.69158.5122. [Link] [DOI]
61. Ghasemnejad T, Shekari Khaniani M, Zarei F, Farbodnia M, Mansoori Derakhshan S. An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population. Int J Pediatr Otorhinolaryngol. 2017 Jun;97:113-26. doi: 10.1016/j.ijporl.2017.04.007. [DOI] [PubMed]
62. Ceylan S, Şahin M, Öğüt MF. Comparison of CE-Chirp and Click Auditory Brainstem Response Methods in Patients with Unilateral Total Hearing Loss. Meandros Med Dent J 2021;22(3):235-41. [Link]
63. Xia W, Hu J, Ma J, Huang J, Wang X, Jiang N, et al. Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss. Clin Genet. 2019 Oct;96(4):300-308. doi: 10.1111/cge.13590. [DOI] [PubMed]
Send email to the article author


XML   Persian Abstract   Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Shahraki F, Oladnabi M. The Role of Genetic Counseling in the Prevention of Intellectual Disability and Deafness: Two Common Disabilities in Iran. J Gorgan Univ Med Sci 2024; 26 (1) :1-16
URL: http://goums.ac.ir/journal/article-1-4374-en.html


Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Volume 26, Issue 1 (3-2024) Back to browse issues page
مجله دانشگاه علوم پزشکی گرگان Journal of Gorgan University of Medical Sciences
Persian site map - English site map - Created in 0.04 seconds with 36 queries by YEKTAWEB 4657