Bilal Haider and colleagues found that Cntnap2 knockout mice exhibited deficits in visual perception and that these were associated with diminished excitation and elevated inhibition in the visual cortex.
Research Highlights
Highlights of SFARI-funded papers, selected by the SFARI science team.
Michael Platt and colleagues found that monkeys create complex internal representations of social situations and uncovered neural circuitry supporting social cooperation.
Fetal responses to maternal infection may help explain prevalence of autism in males
Jun Huh and colleagues found that maternal immune responses to infection may at least partially explain sex-specific differences in autism risk.
Excessive dendritic spine clusters in MECP2 duplication syndrome mouse model
Stelios Smirnakis and Huda Zoghbi observed an increase in the formation and stabilization of dendritic spine clusters in the cortex of MECP2 duplication syndrome mice.
Large cohorts aid in genotype-phenotype analyses
Evan Eichler and colleagues used targeted sequencing in large neurodevelopmental cohorts, including SPARK, to identify new risk genes and relate genotype to phenotypic presentation.
Sensory habituation is reduced in autism
Pawan Sinha and colleagues found that sensory habituation is reduced in autism, and furthermore, that this reduction correlates with behavioral assessments of social communication and sensory difficulties.
Impaired long-range communication and reduced anxiety-related behavior in Pogz deficient mice
Vikaas Sohal and John Rubenstein found that Pogz heterozygous mice exhibited reduced anxiety-related avoidance behavior and that this correlated with impaired communication between the ventral hippocampus and medial prefrontal cortex.
Pupil responses predict reward sensitivity and autism status
Vanessa Troiani and colleagues demonstrated a linear relationship between pupil dilation, reward/punishment sensitivity and individual ASD diagnostic status.
Cellular system to screen ASD risk gene function
Robi Mitra and colleagues have developed a scalable CRISPR/Cas9 RNA sequencing assay in a human neuronal differentiation cell model, enabling high-throughput assessments of how repression of ASD risk genes affects transcription and neuronal differentiation.
Mitochondrial deficiency and fragile X syndrome
Elizabeth Jonas and colleagues identified a molecular mechanism underlying the contributions of mitochondrial dysfunction to the synaptic and behavioral features associated with fragile X syndrome.
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