Validated screening and diagnostic tools for autism spectrum disorder for use in Arabic-speaking individuals are scarce. This study validated the Arabic version of the Social Communication Questionnaire. The total study sample included 206 children with autism spectrum disorder and 206 typically developing children (73.8% male; mean age: 8.5 (standard deviation = 2.6) years). The mean Social Communication Questionnaire total score was significantly higher in autism spectrum disorder children than in typically developing children (p < 0.0001). Scores on the three Social Communication Questionnaire subscales also differed significantly between the groups (p < 0.001). Of the 39 items, 37 were endorsed significantly more often in the autism spectrum disorder group. The total Social Communication Questionnaire score did not vary by age or gender. Internal consistency was excellent (alpha = 0.92). In the receiver operating characteristic analysis, the area under the curve for the total score showed excellent discrimination between autism spectrum disorder and typically developing children (area under the curve = 0.95; 95% confidence interval: 0.93–0.97). The areas under the curve for the scale subscores were 0.923 (95% confidence interval: 0.898–0.949) for the social interaction score, 0.872 (95% confidence interval: 0.838–0.905) for the communication score, and 0.856 (95% confidence interval: 0.819–0.893) for the repetitive behaviors score. The findings support the use of the Arabic Social Communication Questionnaire to successfully differentiate children with clinically diagnosed autism spectrum disorder using the established cutoff value for the English version.

The primary objectives of this study were to evaluate the structure and age‐related stability of social attention in English and Arabic‐speaking youth and to compare social attention between children with autism spectrum disorder (ASD), other developmental disabilities (DD), and typically‐developing controls. Eye‐tracking data were collected from US ( N = 270) and Qatari ( N = 242) youth ages 1–17, including children evaluated for possible ASD. Participants viewed 44 stimuli from seven social paradigms. Fixation was computed for areas of interest within each stimulus. Latent variable models examined the structure of social attention. Generalized estimating equation models examined the effect of age, sex, culture, and diagnostic group on social attention. The best‐fitting model included a general social attention factor and six specific factors. Cultural differences in social attention were minimal and social attention was stable across age ( r = 0.03), but females showed significantly greater social attention than males (d = 0.28). Social attention was weaker in DD (d = −0.17) and lowest in ASD (d = −0.38) relative to controls. Differences were of sufficient magnitude across areas‐of‐interest to reliably differentiate DD from controls (AUC = 0.80) and ASD‐only from all other cases (AUC = 0.76). A social attention dimension that represents an early‐life preference for socially salient information was identified. This preference was cross‐culturally consistent and stable across development but stronger in females and weaker in DD, especially ASD. Given rapid and easy‐to‐collect remote eye tracking administration, social attention measurement may be useful for developmental monitoring. Acquisition of population norms, analogous to height/weight/head circumference, might enhance early screening and tracking of neurodevelopment. Lay Summary: This research found that social attention is a single dimension of behavior that represents a strong preference for social stimuli, is consistent across cultures, stable across age, and stronger in females. Children with developmental disabilities had lower levels of social attention than neurotypical children and children with autism spectrum disorder had the lowest levels of social attention.

Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by abnormalities in language and social communication with substantial clinical heterogeneity. Genetic factors play an important role in ASD with heritability estimated between 70% to 80%. Genome-wide association studies (GWAS) have identified multiple loci associated with ASD. However, most studies were performed on European populations and little is known about the genetic architecture of ASD in Middle Eastern populations. Here, we report the first GWAS of ASD in the Middle eastern population of Qatar. We analyzed 171 families with ASD, using linear mixed models adjusting for relatedness and other confounders. Results showed that common single nucleotide polymorphisms (SNP) in seven loci are associated with ASD (p < 1 × 10⁻⁵). Although the identified loci did not reach genome-wide significance, many of the top associated SNPs are located within or near genes that have been implicated in ASD or related neurodevelopmental disorders. These include GORASP2, GABBR2, ANKS6, THSD4, ERCC6L, ARHGEF6, and HDAC8. Additionally, three of the top associated SNPs were significantly associated with gene expression. We also found evidence of association signals in two previously reported ASD-susceptibility loci (rs10099100 and rs4299400). Our results warrant further functional studies and replication to provide further insights into the genetic architecture of ASD.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication, restricted interests, and repetitive behaviors. Despite considerable research efforts, the genetic complexity of ASD remains poorly understood, complicating diagnosis and treatment, especially in the Arab population, with its genetic diversity linked to migration, tribal structures, and high consanguinity. To address the scarcity of ASD genetic data in the Middle East, we conducted genome sequencing (GS) on 50 ASD subjects and their unaffected parents. Our analysis revealed 37 single-nucleotide variants from 36 candidate genes and over 200 CGG repeats in the FMR1 gene in one subject. The identified variants were classified as uncertain, likely pathogenic, or pathogenic based on in-silico algorithms and ACMG criteria. Notably, 52% of the identified variants were homozygous, indicating a recessive genetic architecture to ASD in this population. This finding underscores the significant impact of high consanguinity within the Qatari population, which could be utilized in genetic counseling/screening program in Qatar. We also discovered single nucleotide variants in 13 novel genes not previously associated with ASD: ARSF, BAHD1, CHST7, CUL2, FRMPD3, KCNC4, LFNG, RGS4, RNF133, SCRN2, SLC12A8, USP24, and ZNF746. Our investigation categorized the candidate genes into seven groups, highlighting their roles in cognitive development, including the ubiquitin pathway, transcription factors, solute carriers, kinases, glutamate receptors, chromatin remodelers, and ion channels.

Autism spectrum disorder (ASD) is an umbrella term that encompasses several disabling neurodevelopmental conditions. These conditions are characterized by impaired manifestation in social and communication skills with repetitive and restrictive behaviors or interests. Thus far, there are no approved biomarkers for ASD screening and diagnosis; also, the current diagnosis depends heavily on a physician’s assessment and family’s awareness of ASD symptoms. Identifying blood proteomic biomarkers and performing deep blood proteome profiling could highlight common underlying dysfunctions between cases of ASD, given its heterogeneous nature, thus laying the foundation for large-scale blood-based biomarker discovery studies. This study measured the expression of 1196 serum proteins using proximity extension assay (PEA) technology. The screened serum samples included ASD cases (n = 91) and healthy controls (n = 30) between 6 and 15 years of age. Our findings revealed 251 differentially expressed proteins between ASD and healthy controls, of which 237 proteins were significantly upregulated and 14 proteins were significantly downregulated. Machine learning analysis identified 15 proteins that could be biomarkers for ASD with an area under the curve (AUC) = 0.876 using support vector machine (SVM). Gene Ontology (GO) analysis of the top differentially expressed proteins (TopDE) and weighted gene co-expression analysis (WGCNA) revealed dysregulation of SNARE vesicular transport and ErbB pathways in ASD cases. Furthermore, correlation analysis showed that proteins from those pathways correlate with ASD severity. Further validation and verification of the identified biomarkers and pathways are warranted.

Abnormal eye gaze is a hallmark characteristic of autism spectrum disorder (ASD). The primary aim of the present research was to develop an Arabic version of an objective measure of ASD, the “autism index” (AI), based on eye gaze tracking to social and nonsocial stimuli validated initially in the United States. The initial phase of this study included the translation of English language eye‐tracking stimuli into stimuli appropriate for an Arabic‐speaking culture. During the second phase, we tested it on a total of 144 children with ASD, and 96 controls. The AI had excellent internal consistency and test–retest reliability. Moreover, the AI showed good differentiation of ASD from control cases (AUC = 0.730, SE = 0.035). The AI was significantly positively correlated with SCQ total raw scores (r = 0.46, p < 0.001). ADOS‐2 scores were only available in the ASD group and did not show a significant relationship with AI scores (r = 0.10, p = 0.348), likely due to the restricted range. The AI, when implemented using Arabic‐translated stimuli in a Qatari sample, showed good diagnostic differentiation and a strong correlation with parent‐reported ASD symptoms. Thus, the AI appears to have cross‐cultural validity and may be useful as a diagnostic aide to inform clinical judgment and track ASD symptom levels as part of the evaluation process.