The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for ASD.
This study examined gender differences in the relationship between dispositional optimism, coping, and depressive symptoms of Hispanic mothers (n = 46) and fathers (n = 43) of children with autism spectrum disorder. Coping was hypothesized to mediate the relationship between optimism and depressive symptoms. The results revealed that mothers reported greater depressive symptoms and greater use of positive and support coping than fathers; however, both mothers and fathers reported similar levels of optimism and use of avoidant coping. In addition, positive and avoidant coping strategies mediated the association between optimism and depressive symptoms for both mothers and fathers. Clinical implications for this study include interventions for improving optimistic outlooks as well as interventions that improve parents' coping skills and therefore reduce negative outcomes.
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.
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