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Genetic and Environmental Influences on Autism Spectrum Disorder: A Multi-Center Study Exploring Gene-Environment Interactions and Biomarkers in Indonesia Vita Amanda; Rashidah Unaib Al-Zayid; Winata Putri; Sonya Syarifah; Tiffany Gabriele; Leonardo Simanjuntak; Cinthya Callathea
Sriwijaya Journal of Neurology Vol. 1 No. 2 (2023): Sriwijaya Journal of Neurology
Publisher : Phlox Institute: Indonesian Medical Research Organization

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.59345/sjn.v1i1.30

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental condition with a complex etiology involving genetic and environmental factors. This multi-center study investigated gene-environment interactions and potential biomarkers associated with ASD in the Indonesian population. Methods: Children diagnosed with ASD (n=500) and age-matched typically developing controls (n=500) were recruited across five major Indonesian cities. Whole-exome sequencing targeted genotyping, and environmental risk factor assessments were conducted. Biomarker analyses included cytokine levels, oxidative stress markers, and neurotransmitters. Results: Genetic analysis revealed both rare and common variants associated with ASD risk, including variants in CHD8, SCN2A, NRXN1, and novel genes. Prenatal exposures (maternal medication use, infections), perinatal complications (preterm birth, low birth weight), and postnatal factors (pesticide exposure, air pollution) were associated with increased ASD risk. Children with ASD exhibited elevated inflammatory markers (TNF-α, IL-6, IL-1β), increased oxidative stress (higher MDA, lower GSH), and altered neurotransmitter levels (lower serotonin and dopamine) compared to controls. Conclusion: This study provides insights into the interplay of genetic and environmental factors contributing to ASD risk in Indonesia. The identified genetic variants, environmental risk factors, and potential biomarkers may contribute to our understanding of ASD etiology and inform the development of targeted interventions and early detection strategies.

Impact of Maternal Anxiety and Stress During Pregnancy on Fetal Neurodevelopment: A Longitudinal Cohort Study in Jakarta, Indonesia Leonardo Simanjuntak; Tomiola Owkwulu; Tanvir Ahmed; Reza Andrianto; Lestini Wulansari
Scientia Psychiatrica Vol. 6 No. 1 (2025): Scientia Psychiatrica
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/scipsy.v6i1.182

Introduction: Maternal anxiety and stress during pregnancy are increasingly recognized as significant factors influencing fetal neurodevelopment. This study investigated the impact of maternal anxiety and stress levels during pregnancy on various aspects of fetal neurodevelopment in a cohort of pregnant women in Jakarta, Indonesia. Methods: A longitudinal cohort study was conducted at three major hospitals in Jakarta, involving 500 pregnant women in their first trimester. Maternal anxiety and stress levels were assessed using the State-Trait Anxiety Inventory (STAI) and the Perceived Stress Scale (PSS) at three time points: first trimester (10-14 weeks), second trimester (20-24 weeks), and third trimester (30-34 weeks). Fetal neurodevelopment was assessed using fetal movement counting, fetal heart rate variability (using Doppler ultrasound), and later, infant neurodevelopmental assessments at 6 and 12 months postpartum using the Bayley Scales of Infant Development III. Data analysis involved correlation and regression analyses to examine the relationship between maternal anxiety/stress and fetal/infant neurodevelopmental outcomes. Results: The study found a significant positive correlation between maternal anxiety and stress levels across all trimesters. Higher maternal anxiety and stress, particularly in the second and third trimesters, were associated with reduced fetal movement counts (p < 0.05) and altered fetal heart rate variability patterns (p < 0.01). Furthermore, higher maternal anxiety and stress during pregnancy were associated with lower scores on the cognitive and motor scales of the Bayley Scales at both 6 and 12 months (p < 0.001). Specifically, maternal anxiety in the third trimester was the strongest predictor of lower cognitive scores at 12 months. Conclusion: Maternal anxiety and stress during pregnancy, particularly in the second and third trimesters, have a demonstrable impact on fetal neurodevelopment and subsequent infant development. These findings highlight the importance of screening for and managing maternal anxiety and stress during pregnancy to promote optimal fetal and infant neurodevelopment. Interventions targeting stress reduction and anxiety management should be integrated into routine prenatal care.

Reading the Epigenetic Clock: A Comparative Analysis of DNA Methylation Markers for Age Estimation in Semen, Saliva, and Touch DNA Febria Suryani; Bryan Helsey; Leonardo Simanjuntak; Karina Chandra; Mustafa Mahmud; Lisha Sandrina; Ahmad Erza
Sriwijaya Journal of Forensic and Medicolegal Vol. 3 No. 1 (2025): Sriwijaya Journal of Forensic and Medicolegal
Publisher : Phlox Institute: Indonesian Medical Research Organization

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.59345/sjfm.v3i1.233

Introduction: The capacity to predict an individual's age from biological evidence constitutes a significant advancement in forensic intelligence. DNA methylation, a stable epigenetic mark, provides a molecular basis for "epigenetic clocks." However, the operational reliability of these clocks necessitates rigorous validation across diverse biological samples and populations, particularly for challenging, low-template touch DNA evidence. Methods: Following approval from the Ethical Committee of CMHC Indonesia (No. 128/EC/CMHC/2023), we recruited 150 healthy Indonesian male volunteers aged 18-65. Semen, saliva, and high-yield standardized touch DNA samples were collected. DNA was extracted, quantified fluorometrically, and subjected to bisulfite conversion with efficiency controls. The methylation levels of a curated five-CpG panel (ELOVL2, FHL2, TRIM59, KCNQ1DN, C1orf132) were quantified using a rigorously controlled pyrosequencing workflow. Body-fluid-specific age prediction models were developed using multiple linear regression, validated with 10-fold cross-validation, and assessed for statistical assumptions including multicollinearity. Results: The models for semen and saliva demonstrated high predictive accuracy, yielding Mean Absolute Deviation (MAD) values of 3.19 years (R²=0.94) and 3.55 years (R²=0.92), respectively. The model developed from high-yield touch DNA was less precise but still highly informative, with a MAD of 5.49 years (R²=0.85). All models satisfied the assumptions of linear regression, with Variance Inflation Factors below 2.5 indicating low multicollinearity. The 95% prediction intervals were narrowest for semen, reflecting its superior precision. Conclusion: This study validates a robust, targeted epigenetic panel for age prediction in a Southeast Asian population. We present highly accurate, tissue-specific models for semen and saliva, suitable for immediate consideration in forensic casework. The touch DNA model, while requiring cautious interpretation, provides a valuable framework for generating investigative leads from trace evidence. Our findings underscore the critical importance of tissue-specific modeling and provide a detailed methodological and statistical blueprint for the responsible implementation of forensic age estimation.

Structural Divergence in Reproductive Agency: Unraveling the 'Matrilineal Buffer' Against Contraceptive Discontinuation in Indonesia Using Multi-Group SEM Leonardo Simanjuntak; Cinthya Callathea; Desiree Montesinos; Firzan Dahlan
Open Access Indonesia Journal of Social Sciences Vol. 8 No. 2 (2025): Open Access Indonesia Journal of Social Sciences
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/oaijss.v8i2.299

Despite the historical success of Indonesia's family planning program, the contraceptive prevalence rate (CPR) has stagnated, driven largely by high rates of contraceptive discontinuation (29%). Conventional demographic analyses often attribute this to biomedical side effects, overlooking the structural influence of kinship systems and the potential confounding role of socioeconomic status. This study aims to analyze the structural pathways linking patriarchal gender norms to contraceptive discontinuation, mediated by reproductive autonomy, while explicitly controlling for educational attainment. We compare Indonesia’s two dominant cultural groups: the matrilineal Minangkabau and the patriarchal Javanese. A comparative cross-sectional study was conducted with 1,450 married women of reproductive age in West Sumatra (Minangkabau, n=725) and Central Java (Javanese, n=725). We employed Multi-Group Structural Equation Modeling (MG-SEM) with a rigorous invariance testing protocol. The model tested the "Patriarchal Norms → Reproductive Autonomy → Discontinuation Propensity" pathway, adjusting for age and education level. Measurement invariance (Configural and Metric) was established, allowing for valid group comparisons. The Minangkabau group exhibited significantly higher education levels (p<0.001). However, even after controlling for education, the structural analysis revealed a distinct divergence. Among Javanese women, patriarchal norms significantly suppressed autonomy (β = -0.58, p < 0.001), leading to higher discontinuation propensity. Conversely, Minangkabau women displayed a "Matrilineal Buffer"; the path from patriarchal norms to autonomy was non-significant (β = -0.09, p > 0.05), suggesting that cultural leverage protects decision-making power regardless of internalized gender norms. In conclusion, the mechanism of contraceptive discontinuation is culturally distinct. The "Matrilineal Buffer" is a robust structural phenomenon that persists independent of educational advantages. Interventions in patriarchal settings must dismantle barriers to female autonomy, while programs in matrilineal settings should focus on quality of care.

Structural Divergence in Reproductive Agency: Unraveling the 'Matrilineal Buffer' Against Contraceptive Discontinuation in Indonesia Using Multi-Group SEM Leonardo Simanjuntak; Cinthya Callathea; Desiree Montesinos; Firzan Dahlan
Open Access Indonesia Journal of Social Sciences Vol. 8 No. 2 (2025): Open Access Indonesia Journal of Social Sciences
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/oaijss.v8i2.299

Despite the historical success of Indonesia's family planning program, the contraceptive prevalence rate (CPR) has stagnated, driven largely by high rates of contraceptive discontinuation (29%). Conventional demographic analyses often attribute this to biomedical side effects, overlooking the structural influence of kinship systems and the potential confounding role of socioeconomic status. This study aims to analyze the structural pathways linking patriarchal gender norms to contraceptive discontinuation, mediated by reproductive autonomy, while explicitly controlling for educational attainment. We compare Indonesia’s two dominant cultural groups: the matrilineal Minangkabau and the patriarchal Javanese. A comparative cross-sectional study was conducted with 1,450 married women of reproductive age in West Sumatra (Minangkabau, n=725) and Central Java (Javanese, n=725). We employed Multi-Group Structural Equation Modeling (MG-SEM) with a rigorous invariance testing protocol. The model tested the "Patriarchal Norms → Reproductive Autonomy → Discontinuation Propensity" pathway, adjusting for age and education level. Measurement invariance (Configural and Metric) was established, allowing for valid group comparisons. The Minangkabau group exhibited significantly higher education levels (p<0.001). However, even after controlling for education, the structural analysis revealed a distinct divergence. Among Javanese women, patriarchal norms significantly suppressed autonomy (β = -0.58, p < 0.001), leading to higher discontinuation propensity. Conversely, Minangkabau women displayed a "Matrilineal Buffer"; the path from patriarchal norms to autonomy was non-significant (β = -0.09, p > 0.05), suggesting that cultural leverage protects decision-making power regardless of internalized gender norms. In conclusion, the mechanism of contraceptive discontinuation is culturally distinct. The "Matrilineal Buffer" is a robust structural phenomenon that persists independent of educational advantages. Interventions in patriarchal settings must dismantle barriers to female autonomy, while programs in matrilineal settings should focus on quality of care.

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