AN INSIGHT INTO GENETIC CONDITIONS ASSOCIATED WITH INTELLECTUAL DISABILITY IN INDONESIAN POPULATION

Abstract Introduction Being one of the major contributors to morbidity and life-long disability, intellectual disability (ID) brings challenges to the affected individuals, their families, and the community at large. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) lists three main criteria for intellectual disability: 1) A general mental impairment that affects adaptive functioning in three areas, including conceptual, social, and practical skills, 2) occur before the age of 18 and 3) have an IQ below 70.1 Leaning on the definition, the Ministry of Health, Indonesia reported that there are estimated 38,545 or 3.3% children aged 5-17 years old with intellectual impairments enrolled in special schools in Indonesia.2,3 ID itself can be present alone (non-syndromic ID/NSID), or it can be accompanied by other morphological anomalies, multisystem disorders, epilepsy, autism, or other neuropsychiatric and/or neurobehavioral issues, signifying the involvement of multifactorial etiologies, including genetics.4 Understanding the causes, is crucial for diagnosing and managing the condition.5 Objective This review aims to briefly provide several related genetic conditions for ID discovered in the Indonesian population. Methods Literature studies search relevant articles using PubMed and Google Scholar using the terms ‘intellectual disability’, ‘genetics', and ‘Indonesian population’. Results Based on the literature search we conducted, there are several genetic disorders that are associated ID in the Indonesian population, namely Duchenne Muscular Dystrophy (DMD), Autism Spectrum Disorder (ASD), Fragile X Syndrome (FXS), Down Syndrome (DS), Apert Syndrome, And Subtelomeric Chromosomal Rearrangements. FXS, ASD, and DS are the three most commonly found genetic conditions associated with ID among Indonesia's population. 3,6 Conclusions Data on the prevalence of genetic disorders associated with intellectual disability in Indonesia do not describe the actual incidence because there are only a few studies investigating genetic disorders related to intellectual disability.7 There is not much research on genetics related to intellectual disability in Indonesia, implying further research is needed. References Quach TT, Stratton HJ, Khanna R, Kolattukudy PE, Honnorat J, Meyer K, et al. Intellectual disability: dendritic anomalies and emerging genetic perspectives. Acta Neuropathol. 2021; 141(2): 139–158. Ismandari F. Situasi Disabilitas. Pusat Data dan Informasi Kementrian Kesehatan RI. 2019;1-10. Ministry of Health Republic Indonesia. Laporan Nasional Riset Kesehatan Dasar 2018. http://repository.bkpk.kemkes.go.id/3514/1/Laporan%20Riskesdas%202018%20Nasional.pdf (accessed October 5, 2022). (in Indonesian) Maia N, Nabais Sa MJ, Pires MM, de Brouwer APM, Jorge P. Intellectual disability genomics: current state, pitfalls, and future challenges. BMC Genomics. 2021; 22: 909. https://doi.org/10.1186/s12864-021-08227-4 Tomac V, Puseljic S, Skrlec I, Andelic M, Kos M, Wagner J. Etiology and the Genetic Basis of Intellectual Disability in the Pediatric Population. SEEMEDJ. 2017; 1(1). Sihombing NRB, Winarni TI, Utari A, Van Bokhoven H, Hagerman RJ, Faradz SMH. Surveillance and prevalence of fragile X syndrome in Indonesia. Intractable &Rare Diseases Research. 2021; 10(1):11-16. Sihombing NRB, Winarni TI, de Leeuw N, van Bon B, van Bokhoven H, Faradz SM. Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia. Intractable Rare Dis Res. 2023 May;12(2):104-113. doi: 10.5582/irdr.2023.01001. PMID: 37287653; PMCID: PMC10242398.