The advent of long-read sequencing offers a new assessment method of detecting genomic structural variation (SV) in numerous rare genetic diseases. For autism spectrum disorders (ASD) cases where pathogenic variants fail to be found in the protein-coding genic regions along chromosomes, we proposed a scalable workflow to characterize the risk factor of SVs impacting non-coding elements of the genome. We applied whole-genome sequencing on an Emirati family having three children with ASD using long and short-read sequencing technology. A series of analytical pipelines were established to identify a set of SVs with high sensitivity and specificity. At 15-fold coverage, we observed that long-read sequencing technology (987 variants) detected a significantly higher number of SVs when compared to variants detected using short-read technology (509 variants) (p-value < 1.1020 × 10⁻⁵⁷). Further comparison showed 97.9% of long-read sequencing variants were spanning within the 1–100 kb size range (p-value < 9.080 × 10⁻⁶⁷) and impacting over 5000 genes. Moreover, long-read variants detected 604 non-coding RNAs (p-value < 9.02 × 10⁻⁹), comprising 58% microRNA, 31.9% lncRNA, and 9.1% snoRNA. Even at low coverage, long-read sequencing has shown to be a reliable technology in detecting SVs impacting complex elements of the genome.

The COVID-19 pandemic originated in Wuhan, China on December 31 ^st and spread into international borders, leading to a public health crisis and complete shutdown of countries. The strict quarantine measures taken by governments kept a large number of people, around the world, in isolation and affected many aspects of people’s lives. These unprecedented changes triggered a wide variety of psychological problems ranging from panic disorders, anxiety and depression. In this study, we aim to explore anxiety levels among parents, teachers and the general community amid the COVID-19 pandemic in the UAE, as well as identify emotional and anxiety disorders in children. Using a web-based cross-sectional survey we collected data from 2,200 self-selected assessed volunteers. Demographic information, knowledge and beliefs about COVID-19, generalized anxiety disorder (GAD) using the (GAD-7) scale, emotional problems in children using the strengths and difficulties questionnaire (SDQ), worry and fear about COVID-19, coping mechanisms and general health information were collected. The overall prevalence of GAD in the general population was 71% with younger people (59.8%) and females (51.7%) reporting the highest levels of anxiety. Parents who were teachers reported the highest percentage of emotional problems in children (26.7%) compared to parents only (14.6%) or teachers only (4.7%). Multivariate logistic regression for GAD-7 score showed that females, participants who felt public fear was justifiable, persons who worried about COVID-19, persons who intended to take the COVID-19 vaccine and smokers were all associated with anxiety. Multivariate logistic regression for SDQ showed parents who had severe anxiety levels were 7 times more likely to report more emotional problems in their children (OR=7.00, 95% CI, 3.45 to 14.0) than less anxious parents. Findings suggest the urgency of policy makers to develop effective screening and coping strategies for parents and teachers and more specifically for vulnerable children.

Sedation After a Trial of Mixed Amphetamine Salts in a Boy with Attention-Deficit/Hyperactivity Disorder - Article abstract #928269

Introduction: Autism spectrum disorder (ASD) is a heterogeneous disorder characterized by deficits in social-emotional reciprocity and associated behavioral symptoms. The goal of this study was to examine perinatal risk factors for ASD and their correlates in a tertiary care hospital in Dubai, United Arab Emirates (UAE). Methods: We conducted a case-control study of 87 children diagnosed with ASD using the DSM-5 criteria, who were born between 1999 and 2014, and diagnosed between 2014 and 2016, and 134 age- and gender-matched control subjects. Data were collected from hospital medical records. Associations between ASD and maternal, birth, and neonatal risk factors were examined using logistic regression analysis. Results: Maternal fever was associated with ASD (p = 0.018), with 0% in the control group and 5% in the cases. Multivariate logistic regression analysis revealed a trend for an association between high birthweight (>4,000 g) and ASD (95% CI: 0.76–59.93, p = 0.086). Conclusion: The data affirmed the established gender difference of approximately four males to one female and supported previous findings associating ASD with prematurity. Larger representative studies are further required to explore risk factors for ASD in the UAE.

Background: Atypical antipsychotics (AAP) are commonly prescribed to children and adolescents and are associated with important adverse effects including weight gain and metabolic syndrome. Nonalcoholic fatty liver disease (NAFLD) is not only the most common pediatric liver disease but is also associated with serious complications including liver cirrhosis. Objective: Given that NAFLD and AAP are associated with metabolic syndrome, we aim to comprehensively examine the association between AAP and NAFLD in children and adolescents. Methods: We will conduct a systematic review of studies exploring NAFLD in subjects younger than 18 years on AAP published in English between 1950 and 2020 following the PRISMA (Preferred Reporting items for Systematic Reviews and Meta-Analysis) guidelines. Results: A PRISMA flowchart will be used present the study results after comprehensively reviewing studies on NAFLD in children and adolescents taking AAP. The first and second systematic searches will be conducted during December 2021. The results are expected to be published in June 2022. Conclusions: This research project will serve as a foundation for future studies and assist in devising interventions and reforming clinical guidelines for using AAP to ensure improved patient safety. International Registered Report Identifier (IRRID): PRR1-10.2196/20168