Genetic causes of intellectual disability in a birth cohort: a population-based study

American Journal of Medical Genetics. Part a
Simone M KaramMaureen Black

Abstract

Intellectual disability affects approximately 1-3% of the population and can be caused by genetic and environmental factors. Although many studies have investigated the etiology of intellectual disability in different populations, few studies have been performed in middle-income countries. The present study estimated the prevalence of genetic causes related to intellectual disability in a cohort of children from a city in south Brazil who were followed from birth. Children who showed poor performance in development and intelligence tests at the ages of 2 and 4 were included. Out of 4,231 liveborns enrolled in the cohort, 214 children fulfilled the inclusion criteria. A diagnosis was established in approximately 90% of the children evaluated. Genetic causes were determined in 31 of the children and 19 cases remained unexplained even after extensive investigation. The overall prevalence of intellectual disability in this cohort due to genetic causes was 0.82%. Because this study was nested in a cohort, there were a large number of variables related to early childhood and the likelihood of information bias was minimized by collecting information with a short recall time. This study was not influenced by selection bias, allowing id...Continue Reading

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Citations

Jan 15, 2016·Journal of Human Genetics·Bo TanLingqian Wu
Aug 25, 2018·Journal of Intellectual Disability Research : JIDR·A FinkelsteinA Tenenbaum
Sep 14, 2020·Journal of Neurology·Jonathan D SantoroMichael S Rafii
Jun 17, 2021·Einstein·Kevin Francisco Durigon MeneghiniRafaely Severo
Sep 2, 2021·Delaware Journal of Public Health·Louis E BartosheskyCharmaine Wright
Sep 23, 2021·Disability and Rehabilitation·Kelly McDonaghHannah Durand

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Methods Mentioned

BETA
Feature Extraction
PCR
electrophoresis
exome sequencing

Software Mentioned

Agilent Genomic Workbench Lite Edition
Feature Extraction

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