The developmental genetic architecture of vocabulary skills during the first three years of life: Capturing emerging associations with later-life reading and cognition

Abstract

Individual differences in early-life vocabulary measures are heritable and associated with subsequent reading and cognitive abilities, although the underlying mechanisms are little understood. Here, we (i) investigate the developmental genetic architecture of expressive and receptive vocabulary in toddlerhood and (ii) assess origin and developmental stage of emerging genetic associations with mid-childhood verbal and non-verbal skills.Studying up to 6,524 unrelated children from the population-based Avon Longitudinal Study of Parents and Children (ALSPAC) cohort, we dissected the phenotypic variance of longitudinally assessed early-life vocabulary measures (15-38 months) and later-life reading and cognitive skills (7-8 years) into genetic and residual components, by fitting multivariate structural equation models to genome-wide genetic-relationship matrices.Our findings show that the genetic architecture of early-life vocabulary is dynamic, involving multiple distinct genetic factors. Two of them are developmentally stable and contribute to genetic variation in mid-childhood skills: Genetic links with later-life verbal abilities (reading, verbal intelligence) emerged with expressive vocabulary at 24 months. The underlying genetic factor explained 10.1% variation (path coefficient: 0.32(SE=0.06)) in early language, but also 6.4% (path coefficient: 0.25(SE=0.12)) and 17.9% (path coefficient: 0.42(SE=0.13)) variation in mid-childhood reading and verbal intelligence, respectively. An independent stable genetic factor was identified for receptive vocabulary at 38 months, explaining 2.1% (path coefficient: 0.15(SE=0.07)) phenotypic variation. This genetic factor was also linked to both verbal and non-verbal cognitive abilities in mid-childhood, accounting for 24.7% of the variation in non-verbal intelligence (path coefficient: 0.50(SE=0.08)), 33.0% in reading (path coefficient: 0.57(SE=0.07)) and 36.1% in verbal intelligence (path coefficient: 0.60(0.10)), corresponding to the majority of genetic variance (≥66.4%).Thus, the genetic foundations of mid-childhood reading and cognition are diverse. They involve at least two independent genetic factors that emerge at different developmental stages during early language development and may implicate differences in cognitive processes that are already detectable during toddlerhood.Author summaryDifferences in the number of words young children produce (expressive vocabulary) and understand (receptive vocabulary) can be partially explained by genetic factors, and are related to reading and cognitive abilities later in life. Here, we studied genetic influences underlying word production and understanding during early development (15-38 months) and their genetic relationship with mid-childhood reading and cognitive skills (7-8 years), based on longitudinal phenotype measures and genome-wide genetic data from up to 6,524 unrelated children. We showed that vocabulary skills assessed at different stages during early development are influenced by distinct genetic factors, two of which also contribute to genetic variation in mid-childhood skills, suggesting developmental stability: Genetic sources emerging for word production skills at 24 months were linked to subsequent verbal abilities, including mid-childhood reading and verbal intelligence performance. A further independent genetic factor was identified that related to word comprehension at 38 months and also contributed to variation in later verbal as well as non-verbal abilities during mid-childhood. Thus, the genetic foundations of mid-childhood reading and cognition involve at least two independent genetic factors that emerge during early-life langauge development and may implicate differences in overarching cognitive mechanisms.

Entwicklungsstörungen des Sprechens oder der Sprache nach ICD-11

“…Als Beispiel seien hier genetische Diagnosen genannt. Sehr viele Sprach-und Sprechstörungen sind durch genetische Risikofaktoren entweder direkt verursacht oder zumindest in ihrer Ausprägung beeinfl usst (Hildebrand et al, 2020;Verhoef, Shapland, Fisher, Dale & St Pourcain, 2021 eines Hörtests noch nachweisbar ist und gleichzeitig eine Sprech-oder Sprachstörung vorliegt, sollte hier eine 6E60.0 SSSS diagnostiziert werden. Wenn nach Sanierung des Paukenergusses und unauff älligem Hörtest weiterhin eine Sprech-oder Sprachstörung vorliegt, so ist von einer 6A01 ESS auszugehen und die Diagnose wäre entsprechend zu ändern und zu spezifi zieren.…”