Association between genes regulating neural pathways for quantitative traits of speech and language disorders
Year: 2021
Type: article
Study design: Observational Study
Abstract: Speech sound disorders (SSD) manifest as difficulties in phonological memory and awareness, oral motor function, language, vocabulary, reading, and spelling. Families enriched for SSD are rare, and typically display a cluster of deficits. We conducted a genome-wide association study (GWAS) in 435 children from 148 families in the Cleveland Family Speech and Reading study (CFSRS), examining 16 variables representing 6 domains. Replication was conducted using the Avon Longitudinal Study of Parents and Children (ALSPAC). We identified 18 significant loci (combined p < 10 −8 ) that we pursued bioinformatically. We prioritized 5 novel gene regions with likely functional repercussions on neural pathways, including those which colocalized with differentially methylated regions in our sample. Polygenic risk scores for receptive language, expressive vocabulary, phonological awareness, phonological memory, spelling, and reading decoding associated with increasing clinical severity. In summary, neural-genetic influence on SSD is primarily multigenic and acts on genomic regulatory elements, similar to other neurodevelopmental disorders.
Source: npj Genomic Medicine
Institutions: Case Western Reserve University, North Bristol NHS Trust, University of Bristol, Icahn School of Medicine at Mount Sinai, Nationwide Children's Hospital, University Hospitals Cleveland Medical Center, Rainbow Babies & Children's Hospital, The Ohio State University, James J. Peters VA Medical Center, Cleveland Hearing & Speech Center
Language: English
Subfield: Developmental and Educational Psychology
Field: Psychology
Domain: Social Sciences
Open Access status: gold
Estimated APC paid: $3,490
Awards: G1684393010, G1793884970, Genetic causes of developmental speech sound disorder in families, The Avon Longitudinal Study of Parents and Children (ALSPAC): A multi-generation, longitudinal resource, The Avon Longitudinal Study of Parents and Children (ALSPAC): A multi- generation, longitudinal resource focusing on life course health and well- being., G3987754321, The Avon Longitudinal Study of Parents and Children: An international resource for population
genomics and lifecourse epidemiology. Core Programme Support 2011-2015 and Core programme support 2014-2019, G5313676757, G6940952066, Biological and Behavioral Markers of Persistent Speech Sound Disorders
OpenAlex ID: W3130491115