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The study, led by scientists at Fred Hutchinson Cancer Research Center in Seattle, will be published January 30 in the  Proceedings of the National Academy of Sciences . There are currently no treatments specific to Rett syndrome, which affects approximately 15,000 girls and women in the U.S. and 350,000 around the world. Girls with Rett syndrome are born healthy and seem like any other baby up to one or two years of age. But then they start missing milestones and backslide in development. "They have this period of normal development, and then it's taken away from them," said Dr. Antonio Bedalov, who led the study and is a clinical researcher at Fred Hutch. "It's devastating for the families." The disorder is tied to a genetic defect in the MeCP2 gene, which is carried on the X chromosome. Girls, of course, have two copies of this chromosome but one X is silenced in every cell. Even though, on average, half of a girl's cells will produce the heal...

"We're the first to see that these changes happen very early in brain development," said TSRI Professor Jeanne Loring, who led the study, published this week in the journal  Brain . "This may be the only way we'll be able to identify possible drug treatments to minimize the effects of the disorder." Fragile X syndrome typically occurs when the Fragile X Mental Retardation (FMR1) gene on the X chromosome is epigenetically silenced. People born with the syndrome can show symptoms of hyperactivity, seizures and intellectual disability. Other Fragile X symptoms, such as delayed speech and problems with social interactions, resemble symptoms of autism spectrum disorder. To better understand the biology of this syndrome and the possibility for early treatment, scientists need to know how the brain of a person with Fragile X syndrome develops -- starting with the first weeks in the womb. The problem is that it has been impossible to study the brain so early i...

An important new Tel Aviv University study published in  Molecular Psychiatry  pinpoints the mechanism harnessed by the drug candidate NAP to block the formation of these harmful neurofibrillary tangles. It facilitates the interaction of Tau with microtubules, the minitubes that serve as "train tracks" for essential movement of biological material in nerve cells. "Abnormal Tau proteins form tangles that contribute to the progression of Alzheimer's disease," said Prof. Illana Gozes, who led the research for the study. "We showed here, for the first time, that the drug candidate NAP augmented microtubule movement in nerve cells. At the molecular level, NAP, a fragment of activity-dependent neuroprotective protein (ADNP), enhanced Tau-microtubule interactions that block the recruitment of Tau to the tangles observed in Alzheimer's disease and related disorders." Prof. Gozes is the incumbent of the Lily and Avraham Gildor Chair for the Investigat...

For this retrospective study, researchers examined the electronic health records of 594,638 children born in Kaiser Permanente hospitals in Southern California between 1991 and 2009. During this time, 6,255 of these children were diagnosed with ASD, 37 percent of whom experienced perinatal complications. Researchers found that children exposed to complications during birth were at a 10 percent increased risk of developing ASD, compared to children who did not experience perinatal complications. That number rose to a 22 percent increased risk of developing ASD for children exposed to complications before labor began. The study also showed that children exposed to complications both before and during birth had a 44 percent greater risk of developing ASD than children who did not experience perinatal complications. "Our study suggests that children exposed to certain perinatal complications, especially birth asphyxia and preeclampsia, were more likely to be diagnosed with ASD t...

These pictures of mouse brains examine laser scanning photostimulation maps of all of the neurons related to at least one central neuron in management mice (left) vs. mice dosed with valproic acid (VPA) to induce autism-like signs (proper). The researchers targeted on neurons within the subplate (SP) area, straight under the growing cortex (CP, or cortical plate), which controls notion and habits. The central neuron is marked in white, and every coloured sq. represents a neuron that has a direct synaptic connection to the central neuron. Reds and oranges signify stronger connections in contrast with greens and blues, indicating that subplate neurons in VPA-treated mice type quite a few robust connections early in improvement. Credit score: Daniel Nagode/Patrick Kanold Autism shouldn't be a single situation, however a spectrum of issues that have an effect on the mind's means to understand and course of data. Current analysis means that too many connections with...

The Mount Sinai study focused specifically on the production and characterization of a first genetically modified rat model for Phelan-McDermid syndrome, a developmental disorder with high rates of autism, intellectual disability, attention deficits, and severe language delay. One or more of these symptoms is found in up to 10 percent of children, with limited medicines available for treatment. Phelan-McDermid syndrome is caused by a mutation in a gene called Shank3, leading to a malfunction of nerve cells, especially at the region known as the synapse, where nerve cells communicate with each other. "Our rat model provides the research community with a valuable tool to study how altered function of synapses and nerve cells leads to subsequent deficits in behavior and cognition that are associated with multiple developmental disorders, including Phelan-McDermid syndrome." says Hala Harony-Nicolas , PhD, an instructor at The Seaver Autism Center, and the lead scientist on t...

The findings, published in the journal  Occupational Therapy in Mental Health , continue a shift away from perceiving strong interests as a negative and toward a perspective that recognizes the strengths and potential of these personal pursuits. Research has shown that people with autism may show intense interest in subjects like science, technology, and art -- developing, for instance, a deep knowledge and appreciation of trains, mechanics, animals, or anime and cartoons. Historically, these "preferred interests" have been negatively perceived and deemed as "restrictive" problems or even obsessions. Some experts have thought that the intensity of the interests may interfere with people on the spectrum's ability to develop social relationships by limiting their topics of conversation. However, the field of autism is shifting away from this deficit-focused perspective and is beginning to recognize the benefits of preferred interests. Researchers are now a...

The study was co-authored by Dr. Noah Sasson and doctoral student Daniel Faso in collaboration with researchers at Indiana University and Emerson College. In the study, non-autistic participants reported their first impressions of individuals with autism from videos of them during social interaction. The researchers found that the people with autism were rated similarly to non-autistic adults on trustworthiness and intelligence, but less favorably on likeability and awkwardness -- traits that are important to connecting with other people. Participants watching the videos also reported greater reluctance to pursue social interaction with the adults with autism. Colleagues at Emerson College reported similar findings for children with autism. The study was published in the journal  Scientific Reports . "Our study provides evidence that the social difficulties faced by people with autism are exacerbated by how they are perceived by other people," said Sasson, an associate...

"A traditional eating disorder is usually linked to fixation with food and weight, but there are also a large number of other thoughts and behavior in individuals with anorexia nervosa that have previously been considered typical for autism," says Louise Karjalainen, PhD and psychologist at the Gillberg Neuropsychiatry Centre in Gothenburg. It has long been known that individuals with autism have disturbed eating behavior. However, it has been unclear whether typical autistic behavior surrounding food also exists in those with anorexia nervosa. One of the groups studied by Louise Karjalainen included around 30 women with anorexia nervosa between the ages of 15-25. After a year when their health had generally begun to improve, they still had the negative thought patterns and behavior around food that characterizes individuals with autism. "Their general eating patterns improved during the follow-up year, but it was specifically noteworthy that they were still at t...

In order to successfully diagnose all children who are at risk of ASD, researchers Fein et al. recommend using a combination of strategies, such as: Regular universal screening in the doctor's office: ASD screening should become a routine part of pediatric care. Doctors should not wait for a child to exhibit signs of ASD or for parents to express concern. Screening in other settings: screening should also take place in settings other than the doctor's office, such as day care, child care, churches, and other community settings in order to help reduce disparities -- as many children do not receive consistent healthcare and may miss doctor appointments. Better dialogue between doctor and parent about developmental concerns: screening tools, such as questionnaires, should be routinely used in doctor offices. They can serve as ice-breakers for parents who may not raise concerns on their own and for doctors who may be concerned about upsetting parents. The researchers also...