Parent Strategies Among Latino Parents of Children with Down Syndrome Following a Parent-Mediated Social Communication Intervention

Latino families of children with Down syndrome (DS) are underrepresented in social communication interventions. It is unclear whether interventions that primarily include non- Latino White, middle-class families also lead to positive social communication outcomes among children from culturally diverse backgrounds. The current study included a Latino sample (n=34) to assess to what extent parents of children with DS acquired the strategies of the parent- mediated social communication intervention, JASPER, and whether parent’s level of education and primary language spoken at home (Spanish vs. English) influenced strategy uptake. The study also assessed language outcomes, measured using the Preschool Language Scale-5 (PLS-5; Zimmerman et al., 2011) and number of different word roots (NDWR) coded from a natural language sample, following intervention. Results suggest that parents of children with DS in the JASPER condition reached fidelity levels that were comparable to autism spectrum disorder samples. The intervention improved children’s NDWR significantly but did not have any effects on their PLS-5 scores

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder (DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we analyzed de novo variants (DNVs) from 15,560 ASD (6,557 from SPARK) and 31,052 DD trios independently and also combined as broader neurodevelopmental disorders (NDDs) using three models. We identify 615 NDD candidate genes (false discovery rate [FDR] < 0.05) supported by ≥1 models, including 138 reaching Bonferroni exome-wide significance (P < 3.64e-7) in all models. The genes group into five functional networks associating with different brain developmental lineages based on single-cell nuclei transcriptomic data. We find no evidence for ASD-specific genes in contrast to 18 genes significantly enriched for DD. There are 53 genes that show mutational bias, including enrichments for missense (n = 41) or truncating (n = 12) DNVs. We also find 10 genes with evidence of male- or female-bias enrichment, including 4 X chromosome genes with significant female burden (DDX3X, MECP2, WDR45, and HDAC8). This large-scale integrative analysis identifies candidates and functional subsets of NDD genes