Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children in Qatar was recently estimated to be 1.1%, though the genetic architecture underlying ASD both in Qatar and the greater Middle East has been largely unexplored. Here, we describe the first genomic data release from the BARAKA-Qatar Study-a nationwide program building a broadly consented biorepository of individuals with ASD and their families available for sample and data sharing and multi-omics research. METHODS: In this first release, we present a comprehensive analysis of whole-genome sequencing (WGS) data of the first 100 families (372 individuals), investigating the genetic architecture, including single-nucleotide variants (SNVs), copy number variants (CNVs), tandem repeat expansions (TREs), as well as mitochondrial DNA variants (mtDNA) segregating with ASD in local families. RESULTS: Overall, we identify potentially pathogenic variants in known genes or regions in 27 out of 100 families (27%), of which 11 variants (40.7%) were classified as pathogenic or likely-pathogenic based on American College of Medical Genetics (ACMG) guidelines. Dominant variants, including de novo and inherited, contributed to 15 (55.6%) of these families, consisting of SNVs/indels (66.7%), CNVs (13.3%), TREs (13.3%), and mtDNA variants (6.7%). Moreover, homozygous variants were found in 7 families (25.9%), with a sixfold increase in homozygous burden in consanguineous versus non-consanguineous families (13.6% and 1.8%, respectively). Furthermore, 28 novel ASD candidate genes were identified in 20 families, 23 of which had recurrent hits in MSSNG and SSC cohorts. CONCLUSIONS: This study illustrates the value of ASD studies in under-represented populations and the importance of WGS as a comprehensive tool for establishing a molecular diagnosis for families with ASD. Moreover, it uncovers a significant role for recessive variation in ASD architecture in consanguineous settings and provides a unique resource of Middle Eastern genomes for future research to the global ASD community.

A study to evaluate the impact of COVID-19 on Lifestyle of Medical students.

Background: Stressful situations are often linked with poor health and lifestyle behaviors (e.g., unhealthy diet, limited physical activity, poor sleep quality etc.). Subsequent to the nationwide lockdown in Pakistan due to COVID-19 pandemic, medical students experienced substantial lifestyle changes along with academic stresses. The goal of this study was to measure the impact that the COVID-19 lockdown had on lifestyle like sleep, physical activity and nutrition, substance abuse, dealing with finances, spirituality and family life, with respect to a sample of Pakistani medical students. Methods: This cross- sectional online study involving 1100 medical students (68.7% females) from five medical colleges in Pakistan, used self-administered questionnaire to evaluate the impact of pandemic related restrictions on lifestyle of medical students in Pakistan from August- September 2020. Parameters such as physical activity, sleep, nutrition, smoking and substance abuse, family life, finances, internet use and spirituality were studied. Results: Fifty-nine percent of medical students reported a significant effect of lockdown on their physical activity. Only 5.8% people clearly followed or adhered to a routine during the pandemic. About 54.6% students have found that physical activity and exercise significantly reduced their anxiety. More than half of respondents reported increase in screen time, weight gain and poor sleep with 3.1% of students stating an increased use of sleeping pills to fall asleep Another 18.3% students had an increased worry regarding COVID19 based on the information they received on internet. No significant increase in substance uses and alcohol use or family conflicts among students post pandemic was noted. Conclusion: Our findings underscore that COVID-19 pandemic has led to undesired changes in health and lifestyle habits of medical students, which may, to some extent, be responsible for higher negative impact. Hence it is important for medical colleges to start awareness campaigns to tackle challenges for medical students physical and emotional well-being.

International perspective on integrated care models in child and adult mental health.

The dearth of child and adolescent mental health services (CAMHS) is a global problem. Integrating CAMHS in primary care has been offered as a solution. We sampled integrated care perspectives from colleagues around the world. Our findings include various models of integrated care namely: the stepped care model in Australia; shared care in the United Kingdom (UK) and Spain; school-based collaborative care in Qatar, Singapore and the state of Texas in the US; collaborative care in Canada, Brazil, US, and Uruguay; coordinated care in the US; and, developing collaborative care models in low-resource settings, like Kenya and Micronesia. These findings provide insights into training initiatives necessary to build CAMHS workforce capacity using integrated care models, each with the ultimate goal of improving access to care. Despite variations and progress in implementing integrated care models internationally, common challenges exist: funding within complex healthcare systems, limited training mechanisms, and geopolitical/policy issues. Supportive healthcare policy, robust training initiatives, ongoing quality improvement and measurement of outcomes across programs would provide data-driven support for the expansion of integrated care and ensure its sustainability.

Multidimensional impacts of coronavirus pandemic in adolescents in Pakistan: A cross sectional research.

BACKGROUND: COVID-19 has posed unique challenges for adolescents in different dimensions of their life including education, home and social life, mental and physical health. Whether the impact is positive or negative, its significance on the overall shaping of adolescents' lives cannot be overlooked. The aim of the present study was to explore impacts of the pandemic on the adolescents' everyday lives in Pakistan. METHODS: Following ethical approval, this cross-sectional study was conducted through September to December, 2020 via an online survey on 842 adolescents with the mean age of 17.14 ± SD 1.48. Socio-demographic data and Epidemic Pandemic Impact Inventory-Adolescent Adaptation (EPII-A) was used to assess the multi-dimensional effects of the pandemic. RESULTS: Among the 842 participants, 84% were girls. Education emerged as the most negatively affected Pandemic domain (41.6-64.3%). Most of the adolescents (62.0-65.8%) had reported changes in responsibilities at home including increased time spent in helping family members. Besides, increase in workload of participants and their parents was prominent (41.8% & 47.6%). Social activities were mostly halted for approximately half (41-51%) of the participants. Increased screen time, decreased physical activity and sedentary lifestyle were reported by 52.7%, 46.3% and 40.7% respectively. 22.2-62.4% of the adolescents had a direct experience with quarantine, while 15.7% experienced death of a close friend or relative. Positive changes in their lives were endorsed by 30.5-62.4% respondents. Being male and older adolescents had significant association with negative impact across most domains (p<0.05). CONCLUSIONS: Results have shown that COVID-19 exert significant multidimensional impacts on the physical, psycho-social, and home related domains of adolescents that are certainly more than what the previous researches has suggested.

The effects of Covid-19 on Medical Education.

Since the start of January 2019, COVID-19 has caused unparalleled disruption to all aspects of life globally, including the delivery of medical education. Each university and institution have a different approach on how medicine, as a course, is taught and delivered, however, generally there is a consensus that in the earlier years, more emphasis should be given to the acquisition of theoretical and scientific knowledge, including anatomy and physiology. In the later years, medical students are then expected to apply their theoretical knowledge in a practical setting by attending various placements and interacting with patients and other healthcare professionals. The duality of this approach results in doctors who are both competent in their knowledge of the basic sciences whilst being good clinicians with sound practical and inter-personal skills. Covid-19 causes an unprecedented interruption to all students, however with courses such as Medicine, whereby a practical element is crucial, the adaptation to deliver the course effectively is more of a challenge. Clinical rotations were cancelled during the start of the pandemic due to concerns about the students and their families contracting the virus and also for the protection of the vulnerable patients in hospitals. In this manuscript we have explored the adaptations made in order to deliver medical education and evaluate the effectiveness of these methods. We will also be discussing the implications and limitations of these methods.

Gender and Racial Disparities among US Psychiatry Residents: A Review of Trends.

Diversity provides better patient outcomes, reduces physician burnout, and therefore lessens the burden of the healthcare system. In this study, we explore the gender and racial trends in the recruitment of medical graduates into US psychiatry residency programs. Retrospective data analysis was performed utilizing the data from the Accreditation Council for Graduate Medical Education (ACGME) Data's annual Resource Books from the year 2007 to 2018. Demographic data, including gender and race, were extracted for psychiatry residents. Gender was categorized as Male, Female, and Not Reported. Race/ethnicity was categorized as White (Non-Hispanic), Asian/Pacific Islander, Hispanic, Black/African-American (Non-Hispanic), Native American/Alaskan, Others (not in the aforementioned categories), and Unknown. Female psychiatry residents relatively decreased by 2.6% whereas male psychiatry residents relatively increased by 15.5% from 2007 to 2018. Between the years 2011 and 2018, there was a relative increase in African American/Black and Native American/Alaskan psychiatry residents by 5.5% and 1%, respectively, whereas the Asian/Pacific Islanders, White (Non-Hispanic), and Hispanic/Latino psychiatry residents relatively decreased by 5.1%, 2.3%, and 1.7%, respectively. Despite the overall increase of women and ethnic minorities in US medical schools, women and racial minorities remain significantly under-represented in psychiatry residency programs in the US.

Predictors of Psychological Distress in Health Care Staff in Qatar during COVID-19 Pandemic.

BACKGROUND & OBJECTIVE: The Coronavirus disease 2019 (COVID-19) pandemic has caused widespread psychological distress. The aims of the study were a) to assess mental health symptoms experienced by expatriate hospital staff and b) to determine the impact of staff wellbeing interventions specific to pandemic related stress. METHODS: The study was conducted from June 2020 until August 2020. A 16-question survey was disseminated online via Survey Monkey to assess the mental health needs of hospital staff during the pandemic. Based on results, a virtual, tiered mental health support model was developed, and staff feedback was collected. RESULTS: Almost 46.2% of respondents (N: 1001) reported at least one mental health symptom in the initial survey. The most common symptoms were anxiety, low mood and feelings of isolation. Being single and in poor health status were predictors of developing mental health symptoms (P <0.01). Female gender was a predictor for experiencing fear of getting infected. Time constraints at work was the most common reason for not accessing mental health support. CONCLUSIONS: As in other parts of the world, hospital staff in Qatar experienced mental health symptoms and significant fear related to the COVID-19 Pandemic. Being single and in poor health status were risk factors. Mental health interventions at work must take into account time constraints experienced by staff.

Genetic variations influence brain changes in patients with attention-deficit hyperactivity disorder.

Attention-deficit hyperactivity disorder (ADHD) is a neurological and neurodevelopmental childhood-onset disorder characterized by a persistent pattern of inattentiveness, impulsiveness, restlessness, and hyperactivity. These symptoms may continue in 55-66% of cases from childhood into adulthood. Even though the precise etiology of ADHD is not fully understood, it is considered as a multifactorial and heterogeneous disorder with several contributing factors such as heritability, auxiliary to neurodevelopmental issues, severe brain injuries, neuroinflammation, consanguineous marriages, premature birth, and exposure to environmental toxins. Neuroimaging and neurodevelopmental assessments may help to explore the possible role of genetic variations on ADHD neuropsychobiology. Multiple genetic studies have observed a strong genetic association with various aspects of neuropsychobiological functions, including neural abnormalities and delayed neurodevelopment in ADHD. The advancement in neuroimaging and molecular genomics offers the opportunity to analyze the impact of genetic variations alongside its dysregulated pathways on structural and functional derived brain imaging phenotypes in various neurological and psychiatric disorders, including ADHD. Recently, neuroimaging genomic studies observed a significant association of brain imaging phenotypes with genetic susceptibility in ADHD. Integrating the neuroimaging-derived phenotypes with genomics deciphers various neurobiological pathways that can be leveraged for the development of novel clinical biomarkers, new treatment modalities as well as therapeutic interventions for ADHD patients. In this review, we discuss the neurobiology of ADHD with particular emphasis on structural and functional changes in the ADHD brain and their interactions with complex genomic variations utilizing imaging genetics methodologies. We also highlight the genetic variants supposedly allied with the development of ADHD and how these, in turn, may affect the brain circuit function and related behaviors. In addition to reviewing imaging genetic studies, we also examine the need for complementary approaches at various levels of biological complexity and emphasize the importance of combining and integrating results to explore biological pathways involved in ADHD disorder. These approaches include animal models, computational biology, bioinformatics analyses, and multimodal imaging genetics studies.

Reducing the stigma of mental health disorders with a focus on low- and middle-income countries.

Mental health disorders are a burgeoning global public health challenge, and disproportionately affect the poor. Low- and middle-income countries (LMICs) bear 80 % of the mental health disease burden. Stigma associated with mental health results in delayed help seeking, reduced access to health services, suboptimal treatment, poor outcomes and an increased risk of individuals' human rights violations. Moreover, widespread co-occurrence of physical comorbidities such as noncommunicable diseases with mental health disorders makes the treatment of both conditions challenging and worsens prognosis. This paper explores various aspects of stigma towards mental health with a focus on LMICs and assesses measures to increase help-seeking and access to and uptake of mental health services. Stigma impacts persons living with mental illness, their families and caregivers and healthcare professionals (mental health professionals, non-psychiatric specialists and general practitioners) imparting mental health care. Cultural, socio-economic and religious factors determine various aspects of mental health in LMICs, ranging from perceptions of health and illness, health seeking behavior, attitudes of the individuals and health practitioners and mental health systems. Addressing stigma requires comprehensive and inclusive mental health policies and legislations; sustainable and culturally-adapted awareness programs; capacity building of mental health workforce through task-shifting and interprofessional approaches; and improved access to mental health services by integration with primary healthcare and utilizing existing pathways of care. Future strategies targeting stigma reduction must consider the enormous physical comorbidity burden associated with mental health, prioritize workplace interventions and importantly, address the deterioration of population mental health from the COVID-19 pandemic.

Novel mutant camelina and jatropha as valuable feedstocks for biodiesel production.

Novel mutant camelina has become a crop of interest inspired by its short growing season, low harvesting costs and high oil composition. Despite those advantages, limited research has been done on novel mutant lines to determine applicability for biodiesel production. Jatropha is an extremely hardy, frugal and high oil yielding plant species. The major aim of the present study was not only to compare biodiesel production from jatropha and camelina but was also to test the efficacy of camelina mutant lines (M6 progenies) as superior feedstock. The biodiesel yield from camelina oil and jatropha oil was 96% and 92%, respectively. The gas chromatographic analysis using flame ionization detector (GC-FID) showed that mutant camelina oil biodiesel sample contain major amount of oleic acid (46.54 wt%) followed by linolenic acid (20.41 wt%) and linoleic acid (16.55 wt%). Jatropha biodiesel found to contain major amount of oleic acid (45.03 wt%) followed by linoleic acid (25.07 wt%) and palmitic acid (19.31 wt%). The fuel properties of produced biodiesel were found in good agreement with EN14214 and ASTM D6751 standards. The mutant camelina lines biodiesel have shown comparatively better fuel properties than jatropha. It has shown low saponification value (120.87-149.35), high iodine value (130.2-157.9) and better cetane number (48.53-59.35) compared to jatropha biodiesel which have high saponification value (177.39-198.9), low iodine value (109.7-123.1) and lesser cetane number (47.76-51.26). The results of the present student of utilizing novel mutant camelina lines for biodiesel production are quite promising and are helpful in turning out the outcomes of the previous studies suggesting that C. sativa biodiesel presents serious drawbacks for biodiesel applications.

A World Psychiatric Association Initiative to Increase Interest in Psychiatry as a Career in Qatar Medical Students: A Pilot Study.

INTRODUCTION: The World Health Organization identified a chronic shortage of psychiatrists in Low- Middle- and High-Income Countries. In Qatar, the situation is dire with reports there is one psychiatrist per 170,000 people in the population. A one-day, student-led mental-health conference was held in Doha, Qatar under the auspices of the World Psychiatric Association with the aim of increasing interest in psychiatry as a career. SUBJECTS AND METHODS: In this single-arm, pre-post comparison study, a questionnaire assessing interest in psychiatry as a career was administered on participants before and after attending the conference. Demographic information was obtained and response items were on a 5-point Likert scale. Statistical analysis was performed using a two-sample t-test with a significant p-value set at <0.05. RESULTS: The conference was attended by 102 individuals. Fifty-four attendees completed the pre-conference survey (53% response rate) and 36 participants completed the post-conference survey (35% response rate). Data for the 36 matched pre-post responses were included in our analyses. The average age of respondents was 22 years and 81% were female. There was improvement in post-conference results however these changes were not statistically significant. CONCLUSION: To the best of our knowledge this is the first intervention study on increasing interest in psychiatry as a career carried out in Qatar. It is likely that psychiatry enthusiasts attended the conference and therefore their interest in this medical specialty was already high as corroborated by the favorable pre-conference survey results. This might explain why there was a lack of statistical significance in comparison to post- intervention scores. We recommend that such an event be integrated into the medical school curricula throughout Qatar to include students with low baseline interest in psychiatry. Further research in this area with more robust methodology is urgently needed to help narrow the pervasive treatment gap.

Genetics of structural and functional brain changes in autism spectrum disorder.

Autism spectrum disorder (ASD) is a neurological and developmental disorder characterized by social impairment and restricted interactive and communicative behaviors. It may occur as an isolated disorder or in the context of other neurological, psychiatric, developmental, and genetic disorders. Due to rapid developments in genomics and imaging technologies, imaging genetics studies of ASD have evolved in the last few years. Increased risk for ASD diagnosis is found to be related to many specific single-nucleotide polymorphisms, and the study of genetic mechanisms and noninvasive imaging has opened various approaches that can help diagnose ASD at the nascent level. Identifying risk genes related to structural and functional changes in the brain of ASD patients provide a better understanding of the disease's neuropsychiatry and can help identify targets for therapeutic intervention that could be useful for the clinical management of ASD patients.

Obsessive-compulsive disorder in children and adolescents: epidemiology, diagnosis and management.

Obsessive-compulsive disorder (OCD) can be found in about 4% of the general population and is characterized by various compulsions and obsessions that interfere with the person's quality of life from a mild to severe degree. The following discussion reflects on current concepts in this condition, including its epidemiology and etiologic underpinnings (behavioral, neurological, immunological, gastroenterological, as well as genetic). The interplay of PANS and PANDAS are included in this review. In addition, the core concepts of OCD diagnosis, differential diagnosis, and co-morbidities are considered. It is stressed that the quality of life for persons with pediatric OCD as well as for family members can be quite limited and challenged. Thus, principles of management are presented as a guide to improve the quality of life for these persons as much as possible.

Self-Stigmatization in children receiving mental health treatment in Lahore, Pakistan.

INTRODUCTION: Self-stigma has a negative impact on the lives of children with mental health illnesses. It is a massive obstacle in the way of seeking professional help and poses a challenge to clinician's efforts to timely intervene and provide treatment. AIM: The aim of our study was to measure the stigma associated with mental illness in children with a variety of psychiatric diagnoses. METHODS: Following Institutional Review Board approval, an interviewer-based questionnaire was administered to children (aged 8-12 years), receiving treatment in Child Psychiatry Department at a tertiary care hospital in Lahore. The questionnaire comprised of Demographic Information Form and Paediatric Self-Stigmatization Scale (PaedS). In addition, parent / caregiver also completed a modified sub scale of the PaedS measuring the children's rejection by others due to their mental health difficulties. RESULTS: 110 children with various psychiatric problems, were interviewed with a mean age of 10 years + 1.7. Widespread presence of self-stigmatization was found in these children with particularly high scores for the scales of Societal Devaluation (2.6 + 0.54), Secrecy (2.85 + 0.59) and Self stigma (2.7 + 0.70). Almost two third of parents also answered in affirmative to statements about their children rejection by others due to their mental health difficulties. Children with emotional/ behavioral difficulties had statistically significant scores on secrecy and personal rejection subscales (P value<.05). CONCLUSIONS: Significant self-stigmatization amongst the children diagnosed with mental health illnesses in Lahore, Pakistan emphasize negative societal attitudes, which need to be addressed effectively in a timely manner.