Disability in children: a global problem needing a well-coordinated global action.
Ontology highlight
ABSTRACT:
SUBMITTER: Olusanya BO
PROVIDER: S-EPMC8883278 | biostudies-literature | 2022 Feb
REPOSITORIES: biostudies-literature
Publications
Disability in children: a global problem needing a well-coordinated global action.
Olusanya Bolajoko O BO Halpern Ricardo R Cheung Vivian G VG Nair M K C MKC Boo Nem Yun NY Hadders-Algra Mijna M
BMJ paediatrics open 20220201 1
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Project description:Extensive, yet disparate, research exists elucidating structural anomalies in individuals with Reading Disability (RD) or ADHD. Despite ADHD and RD being highly comorbid, minimal research has attempted to determine shared patterns of morphometry between these disorders. In addition, there is no published research examining the morphometry of comorbid RD and ADHD (RD/ADHD). Hence, we conducted voxel-based morphometry on the MRI scans of 106 children, ages 8-12 years, with RD, ADHD, or RD/ADHD, and typically developing controls. We found right caudate and superior frontal regions in both RD and ADHD, along with areas specific to RD and to ADHD that are consistent with current theories on these disorders. Perhaps most importantly, we found a potential neurobiological substrate for RD/ADHD. Further, our findings illustrate both shared and specific contributors to RD/ADHD, supporting two current theories on the comorbidity of RD and ADHD, thereby facilitating future work on potential etiologies of RD/ADHD.
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Project description:BackgroundGlobal developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the identification of pathogenic variants and genes related to developmental delay. This study aimed to evaluate the yield of whole exome sequencing (WES) and neurodevelopmental disorder gene panel sequencing in a pediatric cohort from Ukraine. Additionally, the study computationally predicted the effect of variants of uncertain significance (VUS) based on recently published genetic data from the country's healthy population.MethodsThe study retrospectively analyzed WES or gene panel sequencing findings of 417 children with global developmental delay, intellectual disability, and/or other symptoms. Variants of uncertain significance were annotated using CADD-Phred and SIFT prediction scores, and their frequency in the healthy population of Ukraine was estimated.ResultsA definitive molecular diagnosis was established in 66 (15.8%) of the individuals. WES diagnosed 22 out of 37 cases (59.4%), while the neurodevelopmental gene panel identified 44 definitive diagnoses among the 380 tested patients (12.1%). Non-diagnostic findings (VUS and carrier) were reported in 350 (83.2%) individuals. The most frequently diagnosed conditions were developmental and epileptic encephalopathies associated with severe epilepsy and GDD/ID (associated genes ARX, CDKL5, STXBP1, KCNQ2, SCN2A, KCNT1, KCNA2). Additionally, we annotated 221 VUS classified as potentially damaging, AD or X-linked, potentially increasing the diagnostic yield by 30%, but 18 of these variants were present in the healthy population of Ukraine.ConclusionsThis is the first comprehensive study on genetic causes of GDD/ID conducted in Ukraine. This study provides the first comprehensive investigation of the genetic causes of GDD/ID in Ukraine. It presents a substantial dataset of diagnosed genetic conditions associated with GDD/ID. The results support the utilization of NGS gene panels and WES as first-line diagnostic tools for GDD/ID cases, particularly in resource-limited settings. A comprehensive approach to resolving VUS, including computational effect prediction, population frequency analysis, and phenotype assessment, can aid in further reclassification of deleterious VUS and guide further testing in families.
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Project description:BackgroundTens of millions of children lack adequate care, many having been separated from or lost one or both parents. Despite the problem's severity and its impact on a child's lifelong health and wellbeing, the care of vulnerable children-which includes strengthening the care of children within families, preventing unnecessary family separation, and ensuring quality care alternatives when reunification with the biological parents is not possible or appropriate-is a low global priority. This analysis investigates factors shaping the inadequate global prioritization of the care of vulnerable children. Specifically, the analysis focuses on factors internal to the global policy community addressing children's care, including how they understand, govern, and communicate the problem.MethodsDrawing on agenda setting scholarship, we triangulated among several sources of data, including 32 interviews with experts, as well as documents including peer-reviewed literature and organizational reports. We undertook a thematic analysis of the data, using these to create a historical narrative on efforts to address children's care, and specifically childcare reform.ResultsDivisive disagreements on the definition and legitimacy of deinstitutionalization-a care reform strategy that replaces institution-based care with family-based care-may be hindering priority for children's care. Multiple factors have shaped these disagreements: a contradictory evidence base on the scope of the problem and solutions, divergent experiences between former Soviet bloc and other countries, socio-cultural and legal challenges in introducing formal alternative care arrangements, commercial interests that perpetuate support for residential facilities, as well as the sometimes conflicting views of impacted children, families, and the disability community. These disagreements have led to considerable governance and positioning difficulties, which have complicated efforts to coordinate initiatives, precluded the emergence of leadership that proponents universally trust, hampered the engagement of potential allies, and challenged efforts to secure funding and convince policymakers to act.ConclusionIn order to potentially become a more potent force for advancing global priority, children's care proponents within international organizations, donor agencies, and non-governmental agencies working across countries will need to better manage their disagreements around deinstitutionalization as a care reform strategy.
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Project description:Objective: The purpose of this study was to search for differential metabolites in urine organic acids, and to characterize metabolic features that can be used to identify metabolites for exploration of global developmental delay (GDD)/intellectual disability (ID) etiology and pathogenesis. Methods: We screened positive test results that could explain GDD/ID from 1,253 cases, and the major differential metabolites in 132 urine organic acids from the 1,230 cases with negative results (863 GDD cases, 367 ID cases), and 100 typically developing children (TD). Non-supervisory principal component analysis and orthogonal partial least squares discriminant analysis were used to develop models to distinguish GDD/ID from TD children, and to detect major differential metabolites. Results: We get 23 positive results that could identify the cause of GDD/ID from 1253 cases diagnosed with GDD/ID. Among 1,230 negative results, we get the differential metabolites of the GDD group and the ID group had the same trend compared with the TD group. Twenty four differential metabolites were obtained from the GDD group, and 25 from the ID group (VIP > 1.0, p < 0.01). These differential metabolites were mainly related to the following pathways: the synthesis and degradation of ketone bodies, citrate cycle, alanine, aspartate and glutamate metabolism, pyrimidine metabolism, butanoate metabolism, pyruvate metabolism, fatty acid biosynthesis, valine, leucine and isoleucine degradation. Conclusion: The use of metabolomics research methods to detect urine organic acids of children with GDD/ID can discover differential metabolites, which might be valuable for future research on the etiology, pathogenesis, prognosis and possible interventions of GDD/ID. The significantly altered differential metabolites indicators could therefore be potential diagnostic biomarkers for GDD/ID.
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Project description:The peptidoglycan (PG) cell wall constitutes the main defense barrier of bacteria against environmental insults and acts as communication interface. The biochemistry of this macromolecule has been well characterized throughout the years but recent discoveries have unveiled its chemical plasticity under environmental stresses. Non-canonical D-amino acids (NCDAA) are produced and released to the extracellular media by diverse bacteria. Such molecules govern cell wall adaptation to challenging environments through their incorporation into the polymer, a widespread capability among bacteria that reveals the inherent catalytic plasticity of the enzymes involved in the cell wall metabolism. Here, we analyze the recent structural and biochemical characterization of Bsr, a new family of broad spectrum racemases able to generate a wide range of NCDAA. We also discuss the necessity of a coordinated action of PG multispecific enzymes to generate adequate levels of modification in the murein sacculus. Finally, we also highlight how this catalytic plasticity of NCDAA-incorporating enzymes has allowed the development of new revolutionary methodologies for the study of PG modes of growth and in vivo dynamics.
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Project description:Polychlorinated biphenyls (PCBs), "famous" as persistent organic pollutants (POPs), have been managed nationally since the 1970s and globally under the Stockholm Convention on POPs since 2004, requiring environmentally sound management (ESM) of PCBs by 2028. At most, 30% of countries are on track to achieve ESM by 2028. Globally over 10 million tonnes of PCB-containing materials remain, mostly in countries lacking the ability to manage PCB waste. Canada (Ontario) and Czechia, both parties to the Stockholm Convention, are close to achieving the 2028 goal, having reduced their stocks of pure PCBs by 99% in the past 10 years. In contrast, the USA, not a party to the Stockholm Convention, continues to have a substantial but poorly inventoried stock of PCBs and only ∼3% decrease in mass of PCBs since 2006. PCB management, which depends on Stockholm Convention support and national compliance, portends major challenges for POP management. The failure to manage global PCB stocks >30 years after the end of production highlights the urgent need to prioritize reducing production and use of newer, more widely distributed POPs such as chlorinated paraffins and per- and polyfluorinated alkyl substances, as these management challenges are unlikely to be resolved in the coming decades.
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Project description:BackgroundHuman pediculosis is caused by hematophagous lice, which are transmitted between individuals via direct and/or indirect contact. Despite the public health importance of louse infestation, information concerning the global burden of pediculosis and the epidemiological landscape of louse-borne diseases is limited. The aim of this review was to summarize the biology, epidemiology, diagnosis, and control of lice infestation in humans. We also discussed the latest advances in molecular taxonomy and molecular genetics of lice.MethodsWe searched five electronic bibliographic databases (PubMed, ScienceDirect, CNKI, VIP Chinese Journal Database, and Wanfang Data) and followed a standard approach for conducting scoping reviews to identify studies on various aspects of human lice. Relevant information reported in the identified studies were collated, categorized, and summarized.ResultsA total of 282 studies were eligible for the final review. Human pediculosis remains a public health issue affecting millions of people worldwide. Emerging evidence suggests that head lice and body lice should be considered conspecific, with different genotypes and ecotypes. Phylogenetic analysis based on mitochondrial (mt) cytb gene sequences identified six distinct clades of lice worldwide. In addition to the direct effect on human health, lice can serve as vectors of disease-causing pathogens. The use of insecticides plays a crucial role in the treatment and prevention of louse infestation. Genome sequencing has advanced our knowledge of the genetic structure and evolutionary biology of human lice.ConclusionsHuman pediculosis is a public health problem affecting millions of people worldwide, particularly in developing countries. More progress can be made if emphasis is placed on the use of emerging omics technologies to elucidate the mechanisms that underpin the physiological, ecological, and evolutionary aspects of lice.
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