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Hearing impairment (HI) is a heterogeneous condition that affects many individuals globally with different age groups. HI is a genetically and phenotypically heterogeneous disorder. Over the last several years, many genes/loci causing rare autosomal recessive and dominant forms of hearing impairments have been identified, involved in various aspects of ear development. In the current study, two affected individuals of a consanguineous family exhibiting autosomal recessive nonsyndromic hearing impairment (AR-NSHI) were clinically and genetically characterized. The single affected individual (IV-2) of the family was subjected to whole-exome sequencing (WES) accompanied by traditional Sanger sequencing. Clinical examinations using air conduction audiograms of both the affected individuals showed profound hearing loss across all frequencies. WES revealed a homozygous missense variant (c.44G>C) in the SIX5 gene located on chromosome 19q13.32. We report the first case of autosomal recessive NSHI due to a biallelic missense variant in the SIX5 gene. This report further supports the evidence that the SIX5 variant might cause profound HI and supports its vital role in auditory function. Identification of novel candidate genes might help in application of future gene therapy strategies that may be implemented for NSHI, such as gene replacement using cDNA, gene silencing using RNA interference, and gene editing using the CRISPR/Cas9 system.

The present study aims to: a) systematically map the of birth cohort studies from the South Asian region b) examine the major research foci and landmark contributions from these cohorts using reproducible scientometric techniques and c) offer recommendations on establishing new birth cohorts in Pakistan, building upon the strengths, weaknesses and gaps of previous cohorts. Bibliographic records for a total of 260 articles, published during through December 2018, were retrieved from the Web of Science (core database). All data were analysed using Microsoft Excel (2013), Web of Science platform and CiteSpace. A series of network analysis were then run for each time-period using the link reduction method and pathfinder network scaling. The co-cited articles were clustered into their homogeneous research clusters. The clusters were named using the Latent Semantic Indexing (LSI) method that utilized author keywords as source of names for these clusters. The scientometric analyses of original research output from these birth cohorts also paint a pessimistic landscape in Pakistan- where Pakistani sites for birth cohorts contributed only 31 publications; a majority of these utilized the MAL-ED birth cohort data. A majority of original studies were published from birth cohorts in India (156), Bangladesh (63), and Nepal (15). Out of these contributions, 31 studies reported data from multiple countries. The three major birth cohorts include prospective and multi-country MAL-ED birth cohort and The Pakistan Early Childhood Development Scale Up Trial, and a retrospective Maternal and infant nutrition intervention cohort. In addition to these, a few small-scale birth cohorts reported findings pertaining to neonatal sepsis, intrauterine growth retardation and its effects on linear growth of children and environmental enteropathy.

INTRODUCTION:In recent years, several non-specialist mediated interventions have been developed and tested to address problematic symptoms associated with autism. These can be implemented with a fraction of cost required for specialist delivered interventions. This review represents a robust evidence of clinical effectiveness of these interventions in improving the social, motor and communication deficits among children with autism. METHODS:An electronic search was conducted in eight academic databases from their inception to 31st December 2018. A total of 31 randomized controlled trials were published post-2010 while only 2 were published prior to it. Outcomes pertaining to communication, social skills and caregiver-child relationship were meta-analyzed when reported in > 2 studies. RESULTS:A significant improvement was noted in child distress (SMD = 0.55), communication (SMD = 0.23), expressive language (SMD = 0.47), joint engagement (SMD = 0.63), motor skills (SMD = 0.25), parental distress (SMD = 0.33) parental self-efficacy (SMD = 0.42) parent-child relationship (SMD = 0.67) repetitive behaviors (SMD = 0.33), self-regulation (SMD = 0.54), social skills (SMD = 0.53) symptom severity (SMD = 0.44) and visual reception (SMD = 0.29). CONCLUSION:Non-specialist mediated interventions for autism spectrum disorder demonstrate effectiveness across a range of outcomes for children with autism and their caregivers.

Internet and social media participation open doors to a plethora of positive opportunities for the general public. However, in addition to these positive aspects, digital technology also provides an effective medium for spreading hateful content in the form of cyberbullying, bigotry, hateful ideologies, and harassment of individuals and groups. This research aims to investigate the growing body of online hate research (OHR) by mapping general research indices, prevalent themes of research, research hotspots, and influential stakeholders such as organizations and contributing regions. For this, we use scientometric techniques and collect research papers from the Web of Science core database published through March 2019. We apply a predefined search strategy to retrieve peer-reviewed OHR and analyze the data using CiteSpace software by identifying influential papers, themes of research, and collaborating institutions. Our results show that higher-income countries contribute most to OHR, with Western countries accounting for most of the publications, funded by North American and European funding agencies. We also observed increased research activity post-2005, starting from more than 50 publications to more than 550 in 2018. This applies to a number of publications as well as citations. The hotbeds of OHR focus on cyberbullying, social media platforms, co-morbid mental disorders, and profiling of aggressors and victims. Moreover, we identified four main clusters of OHR: (1) Cyberbullying, (2) Sexual solicitation and intimate partner violence, (3) Deep learning and automation, and (4) Extremist and online hate groups, which highlight the cross-disciplinary and multifaceted nature of OHR as a field of research. The research has implications for researchers and policymakers engaged in OHR and its associated problems for individuals and society.

IntroductionPregnancy is generally viewed as a time of fulfillment and joy; however, for many women it can be a stressful event. In South Asia it is associated with cultural stigmas revolving around gender discrimination, abnormal births and genetic abnormalities.MethodologyThis cross-sectional study was done at four teaching hospitals in Lahore from February, 2014 to June, 2014. A total of 500 pregnant women seen at hospital obstetrics and gynecology departments were interviewed with a questionnaire consisting of three sections: demographics, the Hospital Anxiety and Depression Scale (HADS) and the Social Provisions Scale (SPS). Pearson's chi-squared test, bivariate correlations and multiple linear regression were used to analyze associations between the independent variables and scores on the HADS and SPS.ResultsMean age among the 500 respondents was 27.41 years (5.65). Anxiety levels in participants were categorized as normal (145 women, 29%), borderline (110, 22%) or anxious (245, 49%). Depression levels were categorized as normal (218 women, 43.6%), borderline (123, 24.6%) or depressed (159, 31.8%). Inferential analysis revealed that higher HADS scores were significantly associated with lower scores on the SPS, rural background, history of harassment, abortion, cesarean delivery and unplanned pregnancies (P < .05). Social support (SPS score) mediated the relationship between the total number of children, gender of previous children and HADS score. Women with more daughters were significantly more likely to score higher on the HADS and lower on the SPS, whereas higher numbers of sons were associated with the opposite trends in the scores (P < .05).ConclusionBecause of the predominantly patriarchal sociocultural context in Pakistan, the predictors of antenatal anxiety and depression may differ from those in developed countries. We therefore suggest that interventions designed and implemented to reduce antenatal anxiety and depression should take into account these unique factors.