PURPOSE: To demonstrate that early childhood speech sound disorders (SSD) and later school-age reading, written expression, and spelling skills are influenced by shared endophenotypes that may be in part genetic. METHOD: Children with SSD and their siblings were assessed at early childhood (ages 4-6 years) and followed at school age (7-12 years). The relationship of shared endophenotypes with early childhood SSD and school-age outcomes and the shared genetic influences on these outcomes were examined. RESULTS: Structural equation modeling demonstrated that oral motor skills, phonological awareness, phonological memory, vocabulary, and speeded naming have varying influences on reading decoding, spelling, spoken language, and written expression at school age. Genetic linkage studies demonstrated linkage for reading, spelling, and written expression measures to regions on chromosomes 1, 3, 6, and 15 that were previously linked to oral motor skills, articulation, phonological memory, and vocabulary at early childhood testing. CONCLUSIONS: Endophenotypes predict school-age literacy outcomes over and above that predicted by clinical diagnoses of SSD or language impairment. Findings suggest that these shared endophenotypes and common genetic influences affect early childhood SSD and later school-age reading, spelling, spoken language, and written expression skills.
PURPOSE: To demonstrate that early childhood speech sound disorders (SSD) and later school-age reading, written expression, and spelling skills are influenced by shared endophenotypes that may be in part genetic. METHOD:Children with SSD and their siblings were assessed at early childhood (ages 4-6 years) and followed at school age (7-12 years). The relationship of shared endophenotypes with early childhood SSD and school-age outcomes and the shared genetic influences on these outcomes were examined. RESULTS: Structural equation modeling demonstrated that oral motor skills, phonological awareness, phonological memory, vocabulary, and speeded naming have varying influences on reading decoding, spelling, spoken language, and written expression at school age. Genetic linkage studies demonstrated linkage for reading, spelling, and written expression measures to regions on chromosomes 1, 3, 6, and 15 that were previously linked to oral motor skills, articulation, phonological memory, and vocabulary at early childhood testing. CONCLUSIONS: Endophenotypes predict school-age literacy outcomes over and above that predicted by clinical diagnoses of SSD or language impairment. Findings suggest that these shared endophenotypes and common genetic influences affect early childhood SSD and later school-age reading, spelling, spoken language, and written expression skills.
Authors: Catherine M Stein; Barbara Truitt; Fenghua Deng; Allison Avrich Ciesla; Feiyou Qiu; Peronne Joseph; Rekha Raghavendra; Jeremy Fondran; Robert P Igo; Jessica Tag; Lisa Freebairn; H Gerry Taylor; Barbara A Lewis; Sudha K Iyengar Journal: Psychiatr Genet Date: 2014-10 Impact factor: 2.458
Authors: Barbara A Lewis; Lisa Freebairn; Jessica Tag; Robert P Igo; Allison Ciesla; Sudha K Iyengar; Catherine M Stein; H Gerry Taylor Journal: Am J Speech Lang Pathol Date: 2019-10-10 Impact factor: 2.408
Authors: Crysten M Skebo; Barbara A Lewis; Lisa A Freebairn; Jessica Tag; Allison Avrich Ciesla; Catherine M Stein Journal: Lang Speech Hear Serv Sch Date: 2013-07-05 Impact factor: 2.983
Authors: Erin Redle; Jennifer Vannest; Thomas Maloney; Rebecca K Tsevat; Sarah Eikenberry; Barbara Lewis; Lawrence D Shriberg; Jean Tkach; Scott K Holland Journal: Brain Res Date: 2014-12-04 Impact factor: 3.252