A hospital-based registry of children with intellectual disability

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Abstract Approximately 2% of the Indian population experiences some degree of intellectual disability (ID). In terms of disability-adjusted life-years, ID accounts for 10.8% of the burden of mental disorders in India, ranking third after depressive disorders and anxiety disorders. It is crucial to diagnose modifiable causes of intellectual disability to enable prevention and early management. AIIMS Kalyani caters to a substantial number of children with intellectual disabilities and has established specialized services such as the Genetics Clinic, Autism Clinic, and a Molecular Diagnostic Laboratory. At least twenty new children visit these facilities every month. The research seeks to establish a hospital-based registry for these children to identify perinatal events and metabolic causes contributing to their condition. Syndromic etiologies will be ruled out through dysmorphology assessments and ancillary genetic testing, while hypoxic ischemic encephalopathy will be evaluated using MRI brain scans. Screening for inborn errors of metabolism (IEMs) will be conducted for other children using Tandem Mass Spectrometry.
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A hospital-based registry of children with intellectual disability | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Method Article A hospital-based registry of children with intellectual disability Atanu Kumar Dutta, Kalyan Goswami, Sibasish Sahoo, Niladri Sekhar Bhunia, and 2 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-6919519/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Approximately 2% of the Indian population experiences some degree of intellectual disability (ID). In terms of disability-adjusted life-years, ID accounts for 10.8% of the burden of mental disorders in India, ranking third after depressive disorders and anxiety disorders. It is crucial to diagnose modifiable causes of intellectual disability to enable prevention and early management. AIIMS Kalyani caters to a substantial number of children with intellectual disabilities and has established specialized services such as the Genetics Clinic, Autism Clinic, and a Molecular Diagnostic Laboratory. At least twenty new children visit these facilities every month. The research seeks to establish a hospital-based registry for these children to identify perinatal events and metabolic causes contributing to their condition. Syndromic etiologies will be ruled out through dysmorphology assessments and ancillary genetic testing, while hypoxic ischemic encephalopathy will be evaluated using MRI brain scans. Screening for inborn errors of metabolism (IEMs) will be conducted for other children using Tandem Mass Spectrometry. Pediatrics Intellectual disability Inborn errors of metabolism Tandem Mass Spectrometry Full Text Additional Declarations The authors declare no competing interests. Supplementary Files CRF1.pdf Case Record Form Picture1.png Graphical abstract Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. 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