Sureni V. Mullegama received the ACMG Foundation/PerkinElmer Diagnostics Travel Award for her platform presentation on Diagnostic Utility of Clinical Exome Sequencing in Autism Spectrum Disorder. She is currently a second year ABMGG Clinical Molecular Genetics Fellow at UCLA.
The U.S. National Institutes of Health now requires funding applicants to consider sex as a variable in proposed research, aiming to address disparities in health outcomes. However, some scientists express concerns about the policy's potential impact on research costs and data quality.
Researchers found activation of maternal immune system during pregnancy alters expression of key genes and processes associated with autism, leading to potential neurological repercussions. MIA-induced effects involve single genes and pathways essential for early fetal neurodevelopment.
Researchers found that maternal immune activation alters the activity of multiple genes and pathways in the fetus's brain, including those important for autism development. This effect may be similar to known biology behind conditions like autism.
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A new study finds that deaths in autistic individuals increased 700 percent in the past 16 years, mostly due to injuries. Swimming classes are recommended immediately after diagnosis to prevent drowning-related fatalities.
Researchers at Mie University have found a potential cause of auditory hypersensitivity in autistic model animals, leading to a more precise diagnosis method. The 'inhibitory' pathway abnormality is linked to sound localization skills, enabling clearer and more accurate assessments.
A new study by Waisman Center researchers provides a detailed picture of the daily experiences of couples raising a child with ASD, revealing both challenges and strengths. Despite lower closeness to partners, parents of children with ASD reported no increase in negative interactions or feeling unsupported.
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Researchers at the University of Queensland found that pregnant mice treated with vitamin D supplements did not develop autism traits in their offspring. Vitamin D is crucial for brain development and maintaining healthy bones, but its role in preventing autism remains unclear.
A new analysis method accurately predicts whether a child has autism by analyzing metabolic biomarkers, offering hope for earlier diagnosis. The method, developed by Rensselaer Polytechnic Institute researchers, correctly classified 97.6% of children with autism and 96.1% of neurotypical children.
Researchers at Rensselaer Polytechnic Institute developed an algorithm that accurately predicts whether a child is on the Autism spectrum of disorder based on levels of metabolites found in a blood sample. The algorithm, which uses big data techniques, correctly identified 96.1% of neurotypical participants and 97.6% of children with ASD.
Researchers identified a gene link to impaired sociability in autism and found its neural circuit mechanism. The study suggests a 'toggle switch' that can be turned on or off to regulate sociability, potentially leading to new treatments for patients with autism. Seizures were also found to impair sociability by repressing specific genes.
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A study found a link between defects in non-coding DNA and severe language impairment, as well as other neurodevelopmental disorders. Variants in the 3'UTRome region of the genome were associated with changes in protein expression, which may contribute to these conditions.
A new perspective paper warns that the potential repeal of the Affordable Care Act poses a threat to critical mental and behavioral health services for people with autism and other disabilities. The author, David S. Mandell, calls on the scientific community to use evidence to guide policy in this area.
A team of researchers from Michigan State University identified a single protein, ADCY1, responsible for many behavioral and molecular abnormalities in Fragile X syndrome. By reducing the expression of this protein, they eliminated autism-like behaviors and improved neuron signaling.
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Researchers at Johns Hopkins Bloomberg School of Public Health warn that renewed focus on debunked autism-vaccine links diverts attention from growing threats to healthcare services. The Affordable Care Act and Individuals with Disabilities Education Act are under attack, posing a serious risk to essential protections.
Scientists at the University of Sussex have discovered concrete links between autism and synaesthesia, highlighting heightened sensory sensitivity in both groups. The study suggests that sensory traits often seen in autism are also present in synaesthetes.
A recent study found that a combination of genetic predisposition, early stress, and male sex increases the risk of social avoidance in individuals with autism. The researchers tested this theory using mice and found evidence supporting the idea that these three factors build on each other to produce the social avoidance characteristic...
Researchers found mindfulness therapy to be effective in reducing depression, anxiety, and rumination in adults with autism spectrum disorder (ASD). Nei Yang Gong therapy also showed positive effects on self-control in children with ASD. The review of 16 studies highlights the potential for mind-body therapies in treating ASD symptoms.
A study found that many toddlers diagnosed with autism at two years of age had a substantially greater amount of extra-axial cerebrospinal fluid at six and 12 months of age, before diagnosis was possible. The more CSF at six months, the more severe the autism symptoms were at two years of age.
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The study identified 61 genetic variations that affect autism risk, including copy number variations and chromosomal abnormalities. Many of these variations were found in areas of the genome once considered 'junk DNA,' suggesting a crucial role in controlling gene activity during brain development.
Researchers found that altered CSF distribution in high-risk infants can predict ASD, with 70% accuracy. Increased subarachnoid CSF at six months is associated with more severe autism symptoms.
Researchers are studying novice drivers with autism to determine if specialized training can improve their driving skills and reduce collisions. They will use a high-tech driving simulator and on-road driving to compare the performance of drivers with and without autism.
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Researchers found that adults with autism process unrelated words similarly to those without the disorder, using distinct learning strategies. The study suggests that adults with autism use an alternative mechanism to process language, resulting in a different pattern in the brain.
A new study by MIT scholars found that voters in the US heavily rely on their pre-existing views when deciding if politicians' statements are true or not. The study used Trump's statements during the 2016 presidential primaries to examine how partisanship and prior beliefs interact with evaluations of objective fact.
A study published in the Journal of Autism and Developmental Disorders found that adolescents with autism are four times more likely to visit the emergency department than their non-autistic peers. The research suggests that youth with autism may need better access to primary care and specialist services.
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Researchers found that genetic variants linked to autism spectrum disorders are also associated with enhanced cognition and intellectual achievement, suggesting positive selection during human evolution. The study analyzed over 5,000 cases of ASD and identified common variants that contribute to both conditions.
In South Carolina, a two-tiered screening process identified children with autism spectrum disorder eligible for early intensive behavioral therapy, leading to a significant increase in treatment. This policy change demonstrates the importance of early intervention in improving social interaction and communication among children with ASD.
Researchers uncovered 91 genes linked to neurodevelopmental disorders, including 38 previously unknown risk factors. The study found overlap between conditions like autism and intellectual impairments, with some genes associated with both. Additional findings suggest less severe mutations may cause autism without intellectual disability.
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A study by Columbia University's Mailman School of Public Health and the Norwegian Institute of Public Health found that women infected with genital herpes during early pregnancy had twice the odds of giving birth to a child later diagnosed with autism spectrum disorder. The researchers suggested that the mother's immune response to HS...
Recent immune research advances the understanding of autism spectrum disorder (ASD), highlighting the role of immune dysregulation in its development. Therapies targeting the immune system may also have benefits beyond ASD, such as preventing attention-deficit/hyperactivity disorder.
A new study uses magnetic resonance imaging to identify infants at high risk for developing autism by age two, with over 90% accuracy. The research found that rapid growth of the brain's surface area is a key indicator of autism risk.
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A new study found significant improvements in social cognition and autistic mannerisms of young subjects after outdoor adventure activities. The research suggests a promising treatment for autism spectrum disorder, with potential benefits for children's social communication skills.
Researchers used MRI to identify differences in brain development among high-risk infants, finding that those with autism showed faster brain growth rates between 6-12 months. These early brain changes can help predict autism diagnosis at age 2 years.
A study published in Nature used MRI scans to identify infants at high risk of developing autism as toddlers. The researchers found that brain overgrowth in the first year of life was linked to increased growth rate of overall brain volume in the second year, and this was associated with emerging autistic social deficits.
A study published in Nature found that brain imaging biomarkers at 6 and 12 months can accurately predict which infants will develop autism spectrum disorder by 24 months. The predictive power of the findings may inform the development of a diagnostic tool for ASD, potentially intervening earlier to improve outcomes.
A new study published in Research in Autism Spectrum Disorders found an inverse correlation between brain stem volume and aggression in children with autism. The researchers discovered that a smaller brain stem is associated with greater aggression, suggesting a potential target for treatment.
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Research suggests that characteristically male brain anatomy is associated with a higher probability of autism spectrum disorder (ASD) in males. The study found that biological females with more typical male brain anatomy were about three times more likely to have ASD than those with characteristically female brain anatomy.
A study by Rosalind Franklin University of Medicine and Science identifies a specific brain circuit in the amygdala as crucial for empathy, providing hope for new treatments of social difficulties in autism. The findings suggest that targeting this region may help individuals with autism spectrum disorder develop social abilities.
A federal law aimed at ensuring equal insurance benefits for physical and mental health care has led to modest increases in healthcare utilization among children with autism spectrum disorder. Despite these gains, researchers highlight the need for stronger enforcement of the parity law to ensure adequate access to services.
Neuroscientist David Heeger proposes a new theory that explains how the brain uses prediction and inference to make decisions. The brain's neural network can process sensory input in a feedforward manner, but also runs in a feedback mode to generate predictions, and combines both modes for optimal performance.
Research from Penn State College of Medicine found that Medicaid waivers improving access to home and community-based services for children with autism also support parental employment. Waiver programs with increased cost limits and enrollment limits helped lower-income households, while those with higher limits benefited higher-income...
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Researchers suggest that universal screening at 18 months and 24 months can help diagnose ASD earlier, reducing disparities among disadvantaged communities. The new policies aim to improve outcomes for relationships and careers.
A study by NYU's Steinhardt School found that adults with autism view their interests positively, believing they should be encouraged. These interests also alleviate anxiety in 92% of respondents and are used as strengths in career paths and educational settings.
A new study found that negative first impressions formed by potential social partners may reduce the quality of social experiences for people with autism. People with autism were rated similarly on trustworthiness and intelligence but less favorably on likeability and awkwardness.
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A study by NYU's Steinhardt School of Culture, Education, and Human Development found that adults with autism view their interests positively and believe they should be encouraged. Many participants reported anxiety relief through engaging in their preferred interests, highlighting the potential benefits of utilizing these strengths.
NAP, a fragment of activity-dependent neuroprotective protein, enhances Tau-microtubule interactions to block neurofibrillary tangles in Alzheimer's disease. This stabilizes microtubules and protects biological material transport in nerve cells.
Recent research from the University of Maryland found that autism-related neural defects begin early in mammalian development, when key neurons form their first circuits. This study could lead to a stronger understanding of autism and possible early intervention strategies.
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Researchers created a genetically modified rat model of autism and intellectual disability to study Phelan-McDermid syndrome. The study found that oxytocin improved social memory, attention, and nerve cell activity in the rat model.
A Kaiser Permanente study found that children exposed to complications before or during birth were at a higher risk of developing autism spectrum disorder. Children with birth asphyxia and preeclampsia had a significantly increased risk, with a 10-44% greater risk compared to those without perinatal complications.
Researchers have discovered 30 genes as potential therapeutic targets for reversing Rett syndrome, a severe form of an autism spectrum disorder affecting approximately 15,000 girls and women globally. The study, led by Dr. Antonio Bedalov at Fred Hutchinson Cancer Center, aims to reactivate the silenced MeCP2 gene in affected individuals.
A new study led by TSRI researchers discovered early brain changes in patients with Fragile X syndrome, a disorder affecting brain development. The study found that the mutation on the X chromosome triggers genome-wide DNA methylation changes, which may help explain similarities with autism spectrum disorder.
Reducing Pcdh10 function leads to impaired social behavior and altered amygdala circuitry, but treatment with d-cycloserine improves social interactions. The study suggests a possible target for autism treatment and parallels the male predominance of ASD in humans.
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A new study by UC San Francisco researchers reveals that distinct sets of genetic defects in a single neuronal protein can cause either infantile epilepsy or autism spectrum disorders. The study identifies SCN2A as the human gene with the strongest evidence for a causal role in driving ASDs.
The 11th Annual Autism Conference will showcase notable research on sex education for teenagers with autism, promoting safety and understanding. The event will also feature studies on complex social play in children with autism and better approaches to measuring outcomes, aiming to improve the lives of individuals with autism.
A small group of children with autism and moderate to severe gastrointestinal problems showed significant improvements in behavioral and gastrointestinal symptoms after receiving a fecal transplant. Parents reported positive changes that lasted at least eight weeks after treatment, while doctor-reported symptoms decreased by 22-24%.
A study published in the journal Microbiome shows that fecal microbial transplants can improve gastrointestinal symptoms associated with autism spectrum disorders by 80%, while also improving social skills and sleep habits by 20-25%. The treatment, which involves transferring live gut bacteria from a healthy donor to a recipient, has s...
New studies by researchers at UCSF suggest that genetic variants affecting physical traits in men and women are linked to different disease risks. Autism risk is associated with genetic variants known to contribute differently to physical traits in boys and girls.
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Researchers found an altered blood-brain barrier and increased intestinal permeability in individuals with autism, supporting the hypothesis that impaired barriers contribute to ASD. The study also revealed reduced expression of barrier-forming cellular components and higher expression of molecules increasing intestinal permeability in...
Researchers found a relationship between increased cortisol response to stress and gastrointestinal symptoms in children with autism. Individuals with autism who experienced frequent constipation and abdominal pain had greater cortisol levels in response to stress.
Research reveals that genes affecting social communication in children overlap with those for autism and schizophrenia, but influence risk differently at various stages of development. This study provides new insights into the genetic basis of psychiatric disorders and their relationship to social competence.
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