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The impacts of "noisier" brains Even though the research was performed on fruit flies, there are many analogues between flies and humans that lead to insights into human brain diseases. Prof. Emre Yaksi (Kavli Institute for Systems Neuroscience at NTNU): "The Fragile X protein in fruit flies is very similar to the Fragile X protein in humans. Our research indicates that patients with Fragile X syndrome have 'noisier' brains, impairing their ability to manage and understand the flow of information and making it more difficult to interact with the world. This may explain why many patients show anxiety, have learning and communication difficulties and may fall on the autism spectrum." Building research tech from scratch To achieve the research goals of the project, new approaches to working with model organisms were built from the ground up at KU Leuven, including the technology to perform electrophysiological recordings and process images of individ...

A new study led by researchers at McGill University, the University of Edinburgh and Université de Montréal has found that metformin improves social, behavioural and morphological defects in Fragile X mice. Fragile X syndrome is a genetic disease caused by defects in the Fragile X Mental Retardation 1 gene (FMR1), which triggers excess production of protein in the brain, as well as dysregulated connections between neurons and changes in behaviour. The condition leads to impairments in speech and language, behaviour and social interaction. It affects about 1 in 5,000 boys and 1 in 6,000 girls and is often co-diagnosed with autism, anxiety disorders and seizures. Fragile X mice -- animals that display symptoms associated with the disease such as increased grooming and decreased socialization -- showed normal brain connections and behavioural patterns after 10 days of injection with metformin. Nahum Sonenberg , James McGill Professor at McGill's Biochemistry Department and co-...

"These results are very exciting as they provide very robust associations with intelligence. The genes we detect are involved in the regulation of cell development, and are specifically important in synapse formation, axon guidance and neuronal differentiation. These findings for the first time provide clear clues towards the underlying biological mechanisms of intelligence," says Danielle Posthuma , Principal Investigator of the study. The study also showed that the genetic influences on intelligence are highly correlated with genetic influences on educational attainment, and also, albeit less strongly, with smoking cessation, intracranial volume, head circumference in infancy, autism spectrum disorder and height. Inverse genetic correlations were reported with Alzheimer's disease, depressive symptoms, smoking history, schizophrenia, waist-to-hip ratio, body mass index, and waist circumference. "These genetic correlations shed light on common biological pathwa...

Since 2015, the Institute has produced a National Autism Indicators Report. The past two reports showed that adults with autism have difficulty transitioning into jobs. This year's version, "National Autism Indicators Report: Developmental Disability Services and Outcomes in Adulthood," delved into the lives and needs of adults with autism who use development disability services -- an estimated 111,000 nationwide. "Billions are spent each year on services for people on the autism spectrum ," said Paul Shattuck, PhD, associate professor in Drexel's Dornsife School of Public Health and director of the Autism Institute's Life Course Outcomes program, which produces the annual reports. "Relatively little is spent trying to understand the types and amount of services people need, as well as the services they actually end up getting or the outcomes of them. This latest National Autism Indicators Report continues our tradition of publishing dashboard-l...

Autism is characterized by difficulties in social functioning. Individuals with autism are generally less sensitive to social information, which can influence their interactions with others as they may overlook social cues. Research has shown that the neuropeptide oxytocin, known to be involved in childbirth and mother-child bonding, also has the potential to improve social information processing in youth with autism. In a recent study published in the journal  Translational Psychiatry , 17 adult men with autism were given a low dose of intranasal oxytocin, a higher dose of intranasal oxytocin, or a placebo over three separate visits. A novel nasal spray device developed by OptiNose AS, which is designed to improve nose-to-brain molecule delivery, was used to deliver the treatment. After each spray administration, the participants were asked about the emotional intensity of a series of facial images. Consistent with past research in healthy adults, the researchers found evide...

The research, published May 23 in the  Journal of Neuroscience , sheds light on how an excess, or absence, of genetic material on a particular chromosome affects neural development. "Notably, the opposing anatomical patterns we observed were most prominent in brain regions important for social functioning," said Carrie Bearden, lead author of the study and a professor of clinical psychology at UCLA. "These findings provide clues into differences in brain development that may predispose to schizophrenia or autism." Bearden's earlier research had focused on children with abnormalities caused by missing sections of genetic material on chromosome 22, in a location known as 22q11.2. The disorder, called 22q11.2-deletion syndrome, can cause developmental delays, heart defects and distinct facial features. It also confers the highest-known genetic risk for schizophrenia. Then she learned that people with 22q duplication -- abnormal repetition, or duplication, ...