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.
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.
Empirical evidence concerning sensory responsivity in young children who later develop autism spectrum disorder (ASD) remains relatively limited. It is unclear whether specific patterns or aspects of sensory responsivity underlay the emergence of the disorder. The goals of this study were to (a) examine whether social versus non‐social context impacted the expression of sensory responsivity in infants at high risk for ASD, and (b) examine if sensory responsivity in social or non‐social contexts was associated with severity of ASD symptoms. The Sensory Experiences Questionnaire 2.1 was collected for 338 infants (131 females, 207 males) at high‐risk for ASD at 12 and/or 24 months of age. High‐risk toddlers meeting diagnostic criteria for ASD (n = 75) showed elevated sensory responsivity in both social and non‐social contexts at 12 months of age and differences widened over the second year of life. Individuals with ASD demonstrate higher responsivity in both contexts suggestive of generalized atypical sensory responsivity in ASD. Lay Summary Behaviors such as avoiding or noticing sensory input (e.g., sounds, touches) are often different in individuals with autism spectrum disorder (ASD) than those without. The reason for this is widely unknown. The findings from this study show that in toddlers, sensory responsivity increased in both social and non‐social situations. Therefore, the setting of sensory input does not explain these differences.
Background Unusual responses to sensory stimuli are considered a diagnostic symptom of autism spectrum disorder with mounting research efforts put towards understanding, characterizing, and treating such symptoms. Methods This paper examines self and caregiver report tools used to measure sensory features in ASD through a systematic review of the psychometric evidence for their use. A total of 31 empirical papers were reviewed across 20 assessment tools. Substantial differences were identified in the specific sensory features defined across assessment tools. Sensory assessment questionnaires were evaluated against quality psychometric evidence criteria to provide a use recommendation. Results Five assessments were identified to be “appropriate with conditions,” while no sensory assessment tools were identified to have sufficient quality psychometric evidence to provide a recommendation of “Appropriate” for measuring sensory features in ASD. Conclusion Evidence from this review highlights potentially significant shortcomings among the current methods used to measure sensory features in ASD and suggests the need for more efforts in developing psychometrically sound sensory assessment tools for use in ASD populations.
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