Publications by authors named "Saba F Elhag"
Article Synopsis
- Autism spectrum disorder (ASD) prevalence in Qatar is around 1.1%, but genetic research in the region is limited; the BARAKA-Qatar Study aims to create a biorepository for ASD families to facilitate future research.
- * Whole-genome sequencing (WGS) analysis of 100 families revealed potentially pathogenic variants in 27% of them, with a notable contribution from dominant and homozygous variants, particularly in consanguineous families.
- * The study also identified 28 new candidate genes related to ASD, emphasizing the importance of including under-represented populations in genetic research to understand the disorder better.
Background: Psychotic experiences are reported in the general population. The Questionnaire for Psychotic Experiences (QPE) was created to test the phenomenological features of these experiences and compare them with those reported in patients with psychiatric and other medical conditions. The aim of this study was to test the psychometric properties of the Arabic version of the QPE.
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- Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that is challenging to diagnose clinically, especially in differentiating severity levels.
- Researchers conducted a study that identified specific circulating non-coding RNAs (cir-ncRNAs) in plasma, which are linked to ASD and could serve as potential biomarkers for diagnosis.
- The findings suggest that these cir-ncRNAs could help create more targeted treatments for individuals with ASD by distinguishing between severe and mild symptoms.
15q deletions have been described in association with intellectual disability and autism spectrum disorder (ASD). Previous reports have supported the role of 15q24 low copy repeats (LCRs) in mediating alternatively sized genomic rearrangements. Based on our reported finding of a 15q24 deletion coinciding with two LCR regions in a patient with epilepsy and ASD, we recommend that patients with 15q24 deletions be evaluated for ASD for early institution of therapy.
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