Browsing by Author "Albanna, Ammar"

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Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort
(2022) Nassir, Nasna; Al Shaibani, Shaiban; Ahmed, Awab; Tayoun, Ahmad Abou; Uddin, Mohammed; Albanna, Ammar
Abstract: Copy number variations (CNVs) are highly implicated in the etiology of neurodevelopmental disorders (NDDs), and chromosomal microarray analysis (CMA) has been recommended as a frst-tier test for many NDDs. We undertook a study to identify clinically relevant CNVs and genes in an ethnically homogenous population of the United Arab Emirates. We genotyped 98 patients with NDDs using genome-wide chromosomal microarray analysis, and observed 47.1% deletion and 52.9% duplication CNVs, of which 11.8% are pathogenic, 23.5% are likely pathogenic, and 64.7% VOUS. The average size of copy number losses (3.9 Mb) was generally higher than of gains (738.4 kb). Analysis of VOUS CNVs for constrained genes (enrichment for brain critical exons and high pLI genes) yielded 7 unique genes. Among these 7 constrained genes, we propose FNTA and PXK as potential candidate genes for neurodevelopmental disorders, which warrants further investigation. Thirty-two overlapping CNVs (Decipher and ClinVar) containing the FNTA gene were previously identifed in NDD patients and 6 overlapping CNVs (Decipher and ClinVar) containing the PXK gene were previously identifed in NDD patients. Our study supports the utility of CMA for CNV profling which aids in precise genetic diagnosis and its integration into therapeutics and management of NDD patients.
Effectiveness of collaborative tele-mental health care for children with attention deficit hyperactivity disorder in United Arab Emirates
(2023) Albanna, Ammar; Alhashmi, Deena; Lakshmanan, Jeyaseelan
Background: Attention deficit hyperactivity disorder is a common neurodevelopmental disorder. Accessing services for this disorder is a worldwide challenge and requires innovative interventions. Aims: We aimed to investigate the effectiveness of tele-collaborative care for attention deficit hyperactivity disorder in primary health care centres in Dubai. Methods: Six trained physicians started collaborative care clinics across Dubai. Eligible children aged 6–12 years attending primary health care centres with attention deficit hyperactivity disorder were randomly selected to receive telehealth collaborative care, or standard treatment. Baseline assessments were conducted using the Vanderbilt Behavioral Assessment Scale, the Columbia Impairment Scale, the Childhood Behavior Checklist, and the Strength and Difficulties Questionnaire. Waiting times and clinical and functional outcomes were measured in both groups and compared. Continuous variables were presented as means and standard deviations, categorical variables such as sex were presented as numbers and percentages, and continuous outcome variables were compared using the Student t-test. Results: Among the referred children (n = 112), 11 boys and 6 girls met the eligibility criteria (mean age 7.8 years). The dropout rate at 6 months in the control group was 80%, compared with 50% in the intervention group. The mean waiting time was significantly shorter in the intervention group (1.3 weeks) than the control group (7.1 weeks); P = 0.026. The mean difference in the Childhood Behavior Checklist total score over time was significantly higher in the intervention group (P = 0.042), but the mean difference in the Vanderbilt scale was not significant. Conclusion: Tele-collaborative care for children with attention deficit hyperactivity disorder within primary health care is feasible.
An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder
(2020) Albanna, Ammar; Uddin, Mohammed
Abstract: This study explored the physical and clinical phenotype of Bangladeshi children with autism spectrum disorder (ASD). A totally of 283 children who were referred for screening and administered Module 1 of the Autism Diagnostic Observation Schedule (ADOS) were included. Overall, 209 met the ADOS algorithmic cutof for ASD. A trend for greater weight and head circumference was observed in children with ASD versus non-ASD. Head circumference was signifcantly (p<0.03) larger in ASD males compared with non-ASD males. A trend was also observed for symptom severity, higher in females than males (p=0.068), with further analyses demonstrating that social reciprocity (p<0.014) and functional play (p<0.03) were signifcantly more impaired in ASD females than males. The fndings help understand sex diferences in ASD.
Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
(2021) Begum, Ghausia; Albanna, Ammar; Bankapur, Asma; Berdiev, Bakhrom; Karuvantevida, Noushad; Alhashmi, Deena; Alsheikh-Ali, Alawi; Uddin, Mohammed; Nassir, Nasna; Tambi, Richa
Abstract: 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.
Nonalcoholic Fatty Liver Disease in Children and Adolescents Taking Atypical Antipsychotic Medications: Protocol for a Systematic Review and Meta-analysis
(2022) Hatem, Reem; Nawaz, Faisal A; Almoosa, Mohammad; Albanna, Ammar; Al-Sharif, Ghadah A
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.
The psychological impact of the COVID-19 pandemic on adults and children in the United Arab Emirates: a nationwide crosssectional study
(2021) Albanna, Ammar
Background: The psychosocial impact of previous infectious disease outbreaks in adults has been well documented, however, there is limited information on the mental health impact of the COVID-19 pandemic on adults and children in the United Arab Emirate (UAE) community. The aim of this study was to explore anxiety levels among adults and children in the UAE and to identify potential risk and protective factors for well-being during the COVID-19 pandemic. Methods: Using a web-based cross-sectional survey we collected data from 2200 self-selected, assessed volunteers and their children. 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. Descriptive analysis was carried out to summarize demographic and participant characteristics, Chi-square analysis to explore associations between categorical variables and anxiety levels and multivariable binary logistic regression analysis to determine predictors of anxiety levels in adults and emotional problems in children. Results: The overall prevalence of GAD in the general population was 71% with younger people (59.8%) and females (51.7%) reporting highest levels of anxiety. Parents who were teachers reported the highest percentage of emotional problems in children (26.7%). Adjusted multivariable logistic regression for GAD-7 scores showed that being female, high levels of worry associated with COVID-19, intention to take the COVID-19 vaccine and smoking were associated with higher levels of anxiety. Adjusted multivariable logistic regression for SDQ showed that higher emotional problems were reported for children in lower and higher secondary education, and parents who had severe anxiety were seven times more likely to report emotional problems in their children. Conclusions: This study reports the psychological impact of COVID-19 among adults and children in the UAE and highlights the significant association between parental and child anxiety. Findings suggest the urgency for policy makers to develop effective screening and coping strategies for parents and especially children.
Sedation After a Trial of Mixed Amphetamine Salts in a Boy with Attention-Deficit/ Hyperactivity Disorder
(2020) Albanna, Ammar
Background: Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder that manifests in early childhood. Pharmacotherapy, including psychostimulants, is considered the cornerstone of ADHD man¬agement. Although stimulants have been associated with adverse effects, sedation following the administra-tion of an amphetamine-based stimulant is an extremely rare adverse effect. Case Report: We report the case of a 6-year-old boy presenting with ADHD and a history of autism spectrum disorder (ASD). After discussing treatment options with his parents, he was started on a low dose of a methylphenidate med¬ication. He was unable to tolerate the medication due to anorexia, insomnia, and irritability despite multiple adjustments in the dosages. A trial of immediate-release mixed amphetamine salts was initiated, starting from a low dose. The boy developed sedation and lethargy shortly after the administration of this medication. Conclusions: Sedation is a rare adverse drug reaction to mixed amphetamine salts. Clinicians should proactively monitor for the possible adverse effects in patients with ASD and ADHD, including unexpected symptoms such as se¬dation. Reporting of adverse drug reactions should be encouraged to promote the post-marketing surveillance of medications.
Single-cell transcriptome identifes molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells
(2021) Nassir, Nasna; Bankapur, Asma; Ali, Abdulrahman; Ahmed, Awab; Inuwa, Ibrahim M.; Shabestari, Seyed Ali Safzadeh; Albanna, Ammar; Berdiev, Bakhrom; Uddin, Mohammed
Background: In recent years, several hundred autism spectrum disorder (ASD) implicated genes have been discov ered impacting a wide range of molecular pathways. However, the molecular underpinning of ASD, particularly from the point of view of ‘brain to behaviour’ pathogenic mechanisms, remains largely unknown. Methods: We undertook a study to investigate patterns of spatiotemporal and cell type expression of ASD-impli cated genes by integrating large-scale brain single-cell transcriptomes (>million cells) and de novo loss-of-function (LOF) ASD variants (impacting 852 genes from 40,122 cases). Results: We identifed multiple single-cell clusters from three distinct developmental human brain regions (ante rior cingulate cortex, middle temporal gyrus and primary visual cortex) that evidenced high evolutionary constraint through enrichment for brain critical exons and high pLI genes. These clusters also showed signifcant enrichment with ASD loss-of-function variant genes (p<5.23 × 10–11) that are transcriptionally highly active in prenatal brain regions (visual cortex and dorsolateral prefrontal cortex). Mapping ASD de novo LOF variant genes into large-scale human and mouse brain single-cell transcriptome analysis demonstrate enrichment of such genes into neuronal sub types and are also enriched for subtype of non-neuronal glial cell types (astrocyte, p<6.40× 10–11, oligodendrocyte, p<1.31× 10–09). Conclusion: Among the ASD genes enriched with pathogenic de novo LOF variants (i.e. KANK1, PLXNB1), a subgroup has restricted transcriptional regulation in non-neuronal cell types that are evolutionarily conserved. This association strongly suggests the involvement of subtype of non-neuronal glial cells in the pathogenesis of ASD and the need to explore other biological pathways for this disorder.