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.
Research Highlights
Highlights of SFARI-funded papers, selected by the SFARI science team.
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.
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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.
Altered immune molecules during pregnancy and in the umbilical cord at birth predict later autism diagnoses
Ian Lipkin, Mady Hornig and colleagues showed that levels of immune molecules in mothers during pregnancy and in cord blood at birth are highly predictive of later autism diagnoses.
Synaptic imbalance and disrupted homeostatic plasticity in cortical circuits of Chd8 haploinsufficient mice
Laura Andreae, M. Albert Basson and collaborators showed that Chd8 haploinsufficiency in mice was linked to changes in excitation/inhibition balance and disrupted homeostatic plasticity of prefrontal circuits.
Alterations in sound processing in Cntnap2 rats provide insights into mechanisms of language-related disorders
SFARI Investigator Susanne Schmid and colleagues showed that loss of Cntnap2 in rats leads to immature-like delays in auditory cortex sound processing and overactive auditory neurons.
New genetic analyses provide estimates of de novo mutations in low- and high-risk families with autism
Ivan Iossifov, Michael Wigler and colleagues provided a detailed comparison of simplex and multiplex families with autism, supporting the view that de novo mutations are a more frequent cause of autism in low- than in high-risk families.
Study finds placental hormone is critical for fetal brain development
Anna Penn and colleagues showed that loss of the supply of the hormone allopregnanolone (ALLO) from the placenta leads to cerebellar brain and behavioral deficits in male offspring.
Human derived 3D brain cultures provide insights into brain size changes in 16p11.2 conditions
SFARI Investigators Lilia Iakoucheva and Alysson Muotri and colleagues utilized 3D organoid brain cultures to demonstrate how defects in neuron migration are affected in 16p11.2 deletion and duplication conditions.
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