Author Archives: Jessica

Research: “Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs”

This study by researchers from Harvard Medical School examined tactile deficits in four groups of mice harboring different genetic mutations, as well as the relationship between tactile deficits, anxiety, and social behavior. The study also focused on the role of … Continue reading

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Research: “SHANK3 controls maturation of social reward circuits in the VTA”

The dopamine (DA) neurons of the ventral segmental area (VTA) modify some brain regions that control social and repetitive behaviors. Since SHANK3 coordinates excitatory synaptic function, this study examines the effect of decreased SHANK3 levels in the VTA on social … Continue reading

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Research: “Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations”

Phelan-McDermid syndrome (PMS) is a disorder caused by a deletion in chromosome 22 which results in an impaired functioning of the SHANK3 gene. Individuals with PMS typically have a delay in growth and may have a concurrent diagnosis of autism … Continue reading

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Research: “Touchscreen Learning Deficits and Normal Social Approach Behavior in the Shank3B Model of Phelan-McDermid Syndrome and Autism”

Deletions and mutations in SHANK3 gene cause Phelan McDermid Syndrome (PMS) and have also been associated with autism spectrum disorder (ASD) and intellectual disabilities. Using a mouse model of Shank3 deletions, this study examines the hypothesis that deficits of SHANK3 … Continue reading

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Research “Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism”

Studies have suggested that behavioral deficiencies in autism spectrum disorder (ASD) can be attributed to abnormal neural connectivity. However, the molecular and neural mechanisms underlying ASD are still unknown. In this study by researchers at Duke University, researchers eliminated exons … Continue reading

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Research: “Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding”

Fragile X syndrome is a genetic syndrome caused by expanded codon repeat sequences within the FMR1 gene on the X chromosome. The syndrome is associated with neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). … Continue reading

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Seaver Center Research: “Brief Report: Sensory Reactivity in Children with Phelan-McDermid Syndrome”

In this study, Seaver Autism Center researchers compared sensory reactivity in children with Phelan-McDermid Syndrome (PMS) to children with idiopathic ASD (iASD). This study is the first to demonstrate differences in sensory reactivity between children with PMS and iASD, helping to … Continue reading

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Research: “Micro-electrode array recordings reveal reductions in both excitation and inhibition in cultured cortical neuron networks lacking Shank3”

In this study by researchers at the Massachusetts Institute of Technology, researchers aimed to explore the use of a micro-electrode array (MEA) as an assay to help identify the electrical network phenotypes associated with risk genes for autism spectrum disorder (ASD). Researchers … Continue reading

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Seaver Center Research: “Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome”

This study by researchers at the Seaver Autism Center examined the differences in brain function between individuals affected by Phelan-McDermid Syndrome (PMS) and those with idiopathic ASD. The researchers found that children with PMS responded differently to communicative vocal sounds … Continue reading

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Research: “Hippocampal Transcriptomic and Proteomic Alterations in the BTBR Mouse Model for Autism Spectrum Disorder”

Currently, the etiology of autism spectrum disorder (ASD) is unclear, and therefore no appropriate “cure” exists. Gene mutations have been found to play a role in the onset of ASD. Mouse models are useful and reliable in studying the cause of disorders … Continue reading

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