Enhancing early detection of neurological and developmental disorders and provision of intervention in low-resource settings in Uttar Pradesh, India: study protocol of the G.A.N.E.S.H. programme

Introduction Around 9% of India’s children under six are diagnosed with neurodevelopmental disorders. Low-resource, rural communities often lack programmes for early identification and intervention. The Prechtl General Movement Assessment (GMA) is regarded as the best clinical tool to predict cerebral palsy in infants <5 months. In addition, children with developmental delay, intellectual disabilities, late detected genetic disorders or autism spectrum disorder show abnormal general movements (GMs) during infancy. General Movement Assessment in Neonates for Early Identification and Intervention, Social Support and Health Awareness (G.A.N.E.S.H.) aims to (1) provide evidence as to whether community health workers can support the identification of infants at high-risk for neurological and developmental disorders and disabilities, (2) monitor further development in those infants and (3) initiate early and targeted intervention procedures.Methods This 3-year observational cohort study will comprise at least 2000 infants born across four districts of Uttar Pradesh, India. Community health workers, certified for GMA, video record and assess the infants’ GMs twice, that is, within 2 months after birth and at 3–5 months. In case of abnormal GMs and/or reduced MOSs, infants are further examined by a paediatrician and a neurologist. If necessary, early intervention strategies (treatment as usual) are introduced. After paediatric and neurodevelopmental assessments at 12–24 months, outcomes are categorised as normal or neurological/developmental disorders. Research objective (1): to relate the GMA to the outcome at 12–24 months. Research objective (2): to investigate the impact of predefined exposures. Research objective (3): to evaluate the interscorer agreement of GMA.Ethics and dissemination G.A.N.E.S.H. received ethics approval from the Indian Government Chief Medical Officers of Varanasi and Mirzapur and from the Ramakrishna Mission Home of Service in Varanasi. GMA is a worldwide used diagnostic tool, approved by the Ethics Committee of the Medical University of Graz, Austria (27-388 ex 14/15). Apart from peer-reviewed publications, we are planning to deploy G.A.N.E.S.H. in other vulnerable settings

Long Non-coding RNAs in a Single-Cell Type: Function and Subcellular Localization

After the conclusion of the human genome project, the annotated genes varied among 26,000 and 39,000. However, this gene count is significantly smaller than what was observed later in 2012 when it was evidenced that most of the human genome is transcribed. The vast majority of the transcribed genome does not code for translated RNAs that are involved in the protein synthesis, but comprises non-coding RNAs. This is true not only for the human genome but also for most of the mammalian genomes. Among non-coding RNAs, the most abundant are long non-coding RNAs (lncRNAs). They are emerging as important players in the regulation of several aspects of cellular biology. For instance, they are involved in cell differentiation, normal functioning of differentiated cells, and also involved in the development of pathological conditions such as tumors. They present an expression that is more cell-specific than coding RNAs and for this reason, it is important to study them in single cells instead of using bulk tissues or a cell population. Recent improvements in techniques that allow genomic and transcriptomic analyses of single cells and those for fluorescence amplification have given a considerable boost in the comprehension of cell specificity, subcellular localization, and function of lncRNAs. The purpose of this chapter is to discuss different methods that are available to detect RNA expression using a single cell approach evidencing the advantages and disadvantages of each of them. We will consider how the analysis of single cells has contributed to the better comprehension of lncRNA functions and how it was involved in proposing new paradigms. To conclude the chapter, we will consider published databases to retrieve information on genomic and transcriptomic experiments on single cells