Genetic and Environmental Risk Factors for Autism Spectrum Disorder in Saudi Arabia: A Systematic Review
Bibliographic record
Abstract
AIM: This study aimed to systematically synthesize evidence on the genetic and environmental risk factors associated with autism spectrum disorder (ASD) in the Saudi population. BACKGROUND: ASD is a complex neurodevelopmental disorder with a strong etiological basis in genetic and environmental interactions. The high rate of consanguinity in Saudi Arabia may amplify the burden of recessive genetic variants, making the investigation of region-specific risk factors a critical public health priority. MATERIALS AND METHODS: This systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A comprehensive search across PubMed, Web of Science, Scopus, and ScienceDirect was performed to identify studies on ASD risk factors in Saudi Arabia. Two independent reviewers screened records, extracted data, and assessed the risk of bias using the Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) tool and the Newcastle-Ottawa Scale (NOS). RESULTS: Thirteen studies met the inclusion criteria. Genetic analyses revealed significant risk associations with specific Y-chromosome haplotypes, NR4A2 loss-of-function variants, TBX1 copy number variations (CNVs), and MTHFR single-nucleotide polymorphisms (SNPs). Key environmental risk factors identified were prenatal phthalate exposure, maternal stress, vitamin D deficiency, and consanguinity. Several studies also implicated neuroinflammatory markers (e.g., PGE2, IFN-γ) and lipid metabolism dysregulation in the disorder's pathophysiology. CONCLUSION: The etiology of ASD in Saudi Arabia is characterized by a complex interplay between genetic predisposition, often exacerbated by consanguinity, and prenatal environmental exposures. While these findings are consistent with global research, they highlight distinct regional patterns. Future investigations should employ larger, balanced cohorts and integrate epigenetic and prospective designs to facilitate the development of targeted preventive and therapeutic strategies.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.006 | 0.023 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.005 | 0.006 |
| Bibliometrics | 0.009 | 0.008 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".