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Led by researchers within the Center for Autism Spectrum Disorders at Children's National Health System, the National Institute of Mental Health, and The George Washington University, the study is the largest to date examining executive function-including the ability to make a plan, get organized, and follow through on the plan as needed-and adaptive skills-ability to perform basic daily tasks like getting up and dressed or making small talk- in women and girls with ASD. "Our goal was to look at real world skills, not just the diagnostic behaviors we use clinically to diagnose ASD, to understand how people are actually doing in their day to day lives," says Allison Ratto Ph.D., , a psychologist in the Center for Autism Spectrum Disorders at Children's National and one of the study's authors. "When parents were asked to rate a child's day-to-day functioning, it turns out that girls were struggling more with these independence skills. This was surprisi...

A new study, published online in  Pediatric Neurology , evaluated children with TSC, which causes malformations and tumors in the brain and other vital organs and has a high prevalence of autism spectrum disorders (ASD). "Single gene syndromes with a high prevalence of neurodevelopmental disorders, such as TSC, provide unique opportunities to investigate the underlying biology a nd identify potential treatments for ASD," says Jamie Capal, MD, a neurodevelopmental and autism specialist in the Division of Neurology at Cincinnati Children's Hospital Medical Center and lead author of the study. "These disorders provide populations in which ASD symptoms can be identified and measured before the formal diagnosis of ASD is made." Capal led the study of 79 children up to 24 months old. These children with TSC are part of a larger group of children enrolled in the TSC Autism Center of Excellence Research Network (TACERN). This is a multicenter study to identify bio...

Over the past decade, mutations to more than 60 different genes have been linked with autism spectrum disorder (ASD), including spontaneous , non-inherited (de novo) mutations. But much of autism still remains unexplained. The study, led by first author Elaine Lim, PhD, of Boston Children's, and senior author Christopher Walsh, MD, PhD, of Boston Children's and the Broad Institute, delved into an emerging category of de novo mutations: those found in only a subset of our cells. De novo mutations can occur in a parent's sperm or egg, or they can occur after fertilization, arising in an embryonic cell. These are known as post-zygotic mutations or PZMs (also known as somatic mutations). The later PZMs occur during embryonic development, the fewer cells will carry them, making them harder to detect. "If the mutation is in a very small fraction of all cells, it will be missed by whole-exome sequencing," says Lim. Finding post-zygotic mutations To find PZMs,...

A study published July 3 in  eLife  by Harvard Medical School researchers Michael Arcaro and Margaret Livingstone suggests that the answer could be both. The team's findings reveal that a primitive blueprint of organization is already present in the brains of primates just a few days after birth and appears to get gradually filled in with age and experience. The findings, the scientists say, not only shed light on a long-standing conundrum in neurobiology, but could also explain some features of neurodevelopmental disorders such as autism, which often involve avoidance of certain visual stimuli, and highlight the importance of correcting visual deficits in infants as early as possible to ensure normal brain development. Livingstone, the HMS Takeda Professor of Neurobiology, has worked for decades to decipher organization in the brain's visual system. In their newly published experiments, she and Arcaro attempted to gain a better understanding of this system in four m...

However, the researchers stress that the absolute risk of autism was small, so these results should not be considered alarming. Depression is common in women of childbearing age, and in Europe 3-8% of pregnant women are prescribed antidepressants during pregnancy. Several studies have reported associations between antidepressant use during pregnancy and autism in offspring. But it is not clear whether this is due to the underlying illness, antidepressant drugs, or other unmeasured factors. Such factors (known as confounding) can introduce bias and affect the results of a study, making it difficult to draw firm conclusions about cause and effect. In a bid to minimise the effects of confounding -- and better understand the reasons behind this association -- a research team led by Dheeraj Rai at the University of Bristol applied a range of analytical methods to a large Swedish population. They analysed data from 254,610 individuals aged 4-17, including 5,378 with autism, livi...

Theresa Van Lith, assistant professor of art therapy in FSU's Department of Art Education, led a study that surveyed art therapists working with children with ASD to develop a clearer understanding of their techniques and approaches. The study was published this month in the journal Arts in Psychotherapy. "I had noticed that is there is a high number of art therapists working with people who have autism, but I wanted to understand what their practice wisdoms were in terms of how they go about facilitating art therapy sessions," Van Lith said. "We want to make it a transparent process for the client or the parents of a client, so they know what to expect." The Center for Disease Control and Prevention estimates that one in 68 children is diagnosed with Autism Spectrum Disorder by age 8 each year. As that population grows, more parents and educators are seeking out art therapists to address social development and sensory issues that generally accompany ASD....

The  ARID1B  gene is one of the most commonly mutated genes in patients with intellectual disability and autism spectrum disorders, but scientists have not yet discerned if and how defects in the  ARID1B  gene contribute to these clinical manifestations. To understand how reduced levels of the protein product of the gene might cause these disorders, a team of researchers led by Dr. Hao Zhu and including graduate student Cemre Celen genetically modified mice to carry a mutation in one of two copies of the  ARID1B  gene. This mutation replicates the genetics of Coffin-Siris syndrome, a disorder that some patients with defects in the  ARID1B  gene have that is characterized by speech and social development problems, intellectual disability, and delayed physical growth. The hope is that by understanding the molecular basis of Coffin-Siris syndrome, scientists will gain a deeper understanding of more common diseases involving intellectual and soc...

"These findings build upon a growing field of research that show that eye movement could serve as a window into a part of the brain that plays a role in a number of neurological and development disorders, such as Autism," said John Foxe, Ph.D., director of the University of Rochester Medical Center Del Monte Neuroscience Institute and co-author of the study. ASD is characterized by a wide range of symptoms that can vary in severity from person to person. This unpredictability not only presents a challenge for diagnosis, but also how best to devise a course of treatment. Identifying the specific phenotype of the disorder is, therefore, an essential first step to providing effective care. Eye movements and the mechanisms by which the brain controls and processes what we choose to look at have been a major focus of neuroscience researchers for decades. The rapid eye movements we make when we shift our attention from one object to another, known as saccades , are essential...

utism spectrum disorder affects an estimated one in 68 children in the United States , causing a wide range of symptoms. While some individuals with the disorder have average or above-average reasoning, memory, attention and language skills, others have intellectual disabilities. Researchers have worked to understand the root of these cognitive differences in the brain and why autism spectrum disorder symptoms are so diverse. An electroencephalogram, or EEG , is a test that detects electrical activity in a person's brain using small electrodes that are placed on the scalp. It measures different aspects of brain activity including peak alpha frequency, which can be detected using a single electrode in as little as 40 seconds and has previously been linked to cognition in healthy individuals. The researchers performed EEGs on 97 children ages 2 to 11; 59 had diagnoses of autism spectrum disorder and 38 did not have the disorder. The EEGs were taken while the children were awak...

In particular, the parts of our brains that enable us to use tools and visualize and locate objects owe some of their lineage to Neanderthal-derived gene variants that are part of our genomes and affect the shape of those structures -- to the extent that an individual harbors the ancient variants. But this may involve trade-offs with our social brain. The evidence from MRI scans suggests that such Neanderthal-derived genetic variation may affect the way our brains work today -- and may hold clues to understanding deficits seen in schizophrenia and autism-related disorders, say the researchers. Dr. Berman, Michael Gregory, M.D., of the NIMH Section on Integrative Neuroimaging, and colleagues, report on their magnetic resonance imaging (MRI) study published online, July 24, 2017 in the journal  Scientific Reports . During their primordial migration out of Africa, ancestors of present-day humans are thought to have interbred with Neanderthals, whose brain characteristics can b...