Studies by two different research teams — one led by Ethan Greenblatt and the other by Emily Osterweil — both suggest that FXS cells under-synthesize large proteins, findings that suggest a new point of view on a fundamental problem.
Research Highlights
Highlights of SFARI-funded papers, selected by the SFARI science team.
Genevieve Konopka and colleagues coupled brain imaging with measures of gene expression to reveal that gene expression patterns in the cortex that typically underlie functional brain activity in neurotypical individuals are affected in people with autism.
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A bidirectional switch affecting phosphorylation of Shank3 influences homeostatic synaptic plasticity
Gina Turrigiano and colleagues showed that the phosphorylation state of the autism-associated synaptic scaffold protein Shank3 can bias synapses toward upward or downward homeostatic plasticity.
Decoding of emotional vocal cues by the auditory cortex correlates with social communication abilities in children
Vinod Menon and colleagues showed that a subregion of the auditory cortex decodes emotional cues in a communication partner’s voice and that this predicts social communication abilities in children.
Machine learning reveals autism-specific variation in brain anatomy and its relationship to autism traits
Joshua K. Hartshorne, Stefano Anzellotti and colleagues used machine learning to disentangle variations in neuroanatomy that are specific to autism from variations common to the general population.
Newly identified hypothalamic cells offer insight into the relationship between fever and autism
Catherine Dulac and her collaborators identified a population of cells in the hypothalamus that generate fever and influence the activity of brain areas associated with behavior during sickness, with implications for the effects of fever on social behavior in autism.
New assessment tool provides a remote telehealth approach to facilitate autism diagnosis during COVID-19 and beyond
So Hyun Kim, Catherine Lord and colleagues developed a new telehealth approach to autism assessment — the Brief Observation of Symptoms of Autism (BOSA) — for use during COVID-19 and beyond.
Oxytocin regulates changes in social brain circuits connectivity in a Cntnap2 mouse model of autism
Daniel Geschwind and colleagues showed that Cntnap2 knockout mice exhibit alterations in brain-wide connectivity related to social behaviors and that oxytocin within the nucleus accumbens regulates changes in connectivity.
Loss of Tsc1 in striatal neurons may contribute to altered motor behaviors in tuberous sclerosis complex and autism
Helen Bateup and colleagues showed that a loss of Tsc1 from striatal direct pathway neurons altered synaptic function and enhanced motor routine learning in mice. These findings suggest that changes in select types of striatal neurons may underlie altered motor behaviors in individuals with tuberous sclerosis complex and autism.
Machine-learning model provides estimates of cognitive ability for large-scale autism studies
Yufeng Cheng, Wendy Chung, Chang “April” Shu and their colleagues used machine-learning models to develop a method for large-scale studies to estimate cognitive ability in individuals with autism for whom formal IQ tests are not available.
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