Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies.

ABSTRACT: Rare diseases impact up to 400 million individuals globally. Of the thousands of known rare diseases, many are rare neurodevelopmental disorders (RNDDs) impacting children. RNDDs have proven to be difficult to assess epidemiologically for several reasons. The rarity of them makes it difficult to observe them in the population, there is clinical overlap among many disorders, making it difficult to assess the prevalence without genetic testing, and data have yet to be available to have accurate counts of cases. Here, we utilized large sequencing cohorts of individuals with rare, de novo monogenic disorders to estimate the prevalence of variation in over 11,000 genes among cohorts with developmental delay, autism spectrum disorder, and/or epilepsy. We found that the prevalence of many RNDDs i

SUBMITTER: Gillentine MA 

PROVIDER: S-EPMC9687899 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature