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Brain network connections may underlie social behavior linked to autism


Evaluating the strength of connections in the brain is one avenue researchers have been exploring to help identify children at risk for autism spectrum disorder earlier in life.

Now, researchers at Washington University School of Medicine in St. Louis, with colleagues from the multicenter 
Infant Brain Imaging Study (IBIS) network, have found associations between brain connectivity and a key social behavior that is a central feature of autism. If it becomes possible to identify children with autism spectrum disorder earlier in life, such knowledge could jump-start efforts to begin therapies that might help improve a child’s language and social skills.

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NICU study highlights need to reduce loud noises, boost beneficial sounds


Premature babies often spend the first several weeks of life in neonatal intensive care units (NICUs), where, ideally, they are protected from too much noise stimulation. However, researchers at Washington University School of Medicine in St. Louis have found that preemies may be exposed to noise levels higher than those deemed safe by the American Academy of Pediatrics.

Conversely, the researchers also found that some preemies may not get enough exposure to beneficial sounds, such as language and music, that can improve early development. The researchers found that in private rooms, which are more and more common in the NICU, babies encounter much longer periods of silence than in areas of the unit where multiple cribs are in the same room. They also learned that many of the sounds in the NICU are mechanical in nature and very different from the beneficial sounds of a human voice.

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Early signs of anxiety, depression may be evident in newborns


Early predictors of anxiety and depression may be evident in the brain even at birth, suggests a study at Washington University School of Medicine in St. Louis.

Analyzing brain scans of newborns, the researchers found that the strength and pattern of connections between certain brain regions predicted the likelihood of the babies developing excessive sadness, shyness, nervousness or separation anxiety by age 2. Such symptoms have been linked to clinical depression and anxiety disorders in older children and adults.

The research is published online in the Journal of the American Academy of Child & Adolescent Psychiatry...

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Unraveling autism: A multifaceted approach aims to detect, treat and even reverse the disorder



Like many patients visiting a doctor’s office, Kim Sebenoler started out her appointment by heading to the nearest restroom to give a urine sample. But her visit to the lab of John Constantino, MD, director of the William Greenleaf Eliot Division of Child Psychiatry, was not a typical exam. The goal was not to measure proteins in her urine or check her overall wellness.

Instead, researchers took her urine cells to replicate human brain cell function in a Petri dish. The study is one of three major approaches School of Medicine researchers are using to unravel the physical and psychological underpinnings of autism. The unique, multifaceted effort — studying genes, brain activity patterns and behavior — is giving researchers and practitioners a better understanding of the disorder, which today affects one in every 100 Americans.

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NIH: Selected NICHD Research Advances of 2016


From the new director of NICHD:

The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) was established in 1962 as the first NIH institute to focus on the entire life process rather than a specific disease or body system. NICHD conducts and supports initiatives and projects that study physical and intellectual developmental disabilities, fertility, pregnancy, and childhood diseases.  

We had a very productive year in 2016. Our staff responded quickly to Zika virus, a global public health emergency, and led the effort to develop the NIH Research Plan on Rehabilitation, energizing the field of rehabilitation research. The following snapshots are examples of the many advances made possible by our institute.

As the new NICHD Director, I am honored to lead a dedicated and skilled staff, and I look forward to expanding our institute's mission of supporting the health and well-being of infants, children, teenagers, and adults in communities across the United States and around the world...

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Depressed children respond differently to rewards than other kids


For many children, December often is linked to presents and excitement, but when a young child doesn’t seem all that enthused about getting gifts, it could be a sign that something is wrong. Measuring brain waves, researchers at Washington University School of Medicine in St. Louis have found that clinically depressed children don’t respond to rewards the same way as other children do.

Previous research from the same group of scientists found that a reduced ability to experience joy is a key sign of clinical depression in young children. The findings in the new study could help explain the biological underpinnings of the earlier discovery.

“These findings may show us how the brain processes emotions in young children with depression,” said senior investigator 
Joan L. Luby, MD...

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National trial to assess drugs for severe seizures


Questions remain regarding how best to treat patients experiencing prolonged, dangerous seizures. Although emergency medical teams around the country use a variety of approaches, more research is needed to give patients the best chance of surviving and to prevent or limit brain damage.

A new clinical trial involving Washington University physicians at 
St. Louis Children’s Hospital will compare three commonly used anti-seizure medications used to treat seizures that last over five minutes and don’t respond to initial treatment — a condition called established status epilepticus (ESE). Such seizures can strike anyone but are most common in people already diagnosed with epilepsy...

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What Grandmothers Can Teach Science About Autism


Phylis Campbell was surprised when her son Gregory was diagnosed with autism just before his 16th birthday in 1991. As far as she knew, the condition didn’t run in her family. But as her son grew older, all sorts of small characteristics in her relatives began to take on a whole new significance.

For instance, Campbell recalled that, like Gregory, his father had intensely disliked clothes with bulky seams or itchy tags, and preferred soft fabrics. In fact, Gregory’s father had said he felt responsible for the odd preferences his son had inherited from him. He had severe depression, as did his mother, and died in 2003...

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Researchers launch first clinical trial for Wolfram syndrome


Researchers at Washington University School of Medicine in St. Louis are launching a new clinical trial to assess the safety of a drug treatment for patients with the rare disease Wolfram syndrome.

Wolfram syndrome affects about one in every 500,000 people worldwide. Many of those patients die prematurely from the disease. Patients with Wolfram syndrome typically develop diabetes at a very young age and require insulin injections several times each day. The disorder also causes hearing loss, vision problems and difficulty with balance...

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New technique aids search for genetic roots of disease


Some 10 million points of genetic variation are scattered across a molecule of DNA, and those variations make us who we are as individuals. But in some cases, those variants contribute to diseases, and it’s a major challenge for scientists to distinguish between harmless variants and those that are potentially hazardous to our health.

Now, researchers at Washington University School of Medicine in St. Louis have developed a new technique to cheaply and rapidly create myriad sets of DNA fragments that detail all possible genetic variants in a particular stretch of DNA. By studying such DNA fragments, scientists can more easily distinguish between genetic variants linked to disease and those that are innocuous.

The findings, published Oct. 3 in Nature Methods, allow researchers to create sets of DNA variants in a single day for a few hundred dollars. Current methods take up to a week and cost tens of thousands of dollars...

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Brain scans of children with Tourette’s offer clues to disorder


Using MRIs, researchers at Washington University School of Medicine in St. Louis have identified areas in the brains of children with Tourette’s syndrome that appear markedly different from the same areas in the brains of children who don’t have the neuropsychiatric disorder.

The findings were published online Oct. 25 in the journal Molecular Psychiatry.

Tourette’s syndrome is defined by tics — involuntary, repetitive movements and vocalizations. Scientists estimate that the condition affects roughly one to 10 kids out of every 1,000 children.

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Scientists link single gene to some cases of autism spectrum disorder


Scientists have linked mutations in a single gene to autism in people who have a rare tumor syndrome typically diagnosed in childhood.

The findings, in patients with neurofibromatosis type 1 (NF1), may lead to a better understanding of the genetic roots of autism in the wider population...

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The IDDRC Reporter: Frontiers in Down Syndrome Research



Down Syndrome: An Introduction

We have learned a lot about Down syndrome since it was recognized by Dr. John Langdon Down 150 years ago, when he published a paper in 1866 describing people who shared very similar facial features. We know now that Down syndrome is relatively common: about 250,000 Americans have Down syndrome, and 1 out of 700 babies (nearly 6,000 per year) is born with the condition. Children with Down syndrome often have cognitive impairments and are at risk for a range of health problems. About half of all newborns with Down syndrome have a congenital heart defect, which occurs when the baby’s heart does not form properly. Fortunately, with early identification and treatment, including cardiac surgery, many infants do well with this condition. 

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Life Lessons: Dr. Mini Mental Health


If a child has a toothache or the flu, it’s easy for most adults to explain what happens during a trip to the dentist or doctor, but when it comes to mental health, many parents may not know where to begin, or how to calm a child’s fears and they may have plenty of fears of their own. One expert is working to destigmatize mental health issues by bringing them front and center...

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New explanation offered for symptoms of fragile X syndrome


Until recently, scientists thought they understood one of the underlying causes of fragile X syndrome, the most common inherited cause of intellectual disability in the United States. The syndrome, which is associated with autism, was believed to be linked primarily to overactivity in a molecular pathway in the brain.

But then, in 2014, two large-scale, multinational clinical trials aimed at treating fragile X by inhibiting that pathway failed.

Now, researchers at Washington University School of Medicine in St. Louis have found another possible explanation for some of the symptoms of fragile X syndrome. The study, published Sept. 20 in Cell Reports, provides a new way of looking at the underlying causes of the syndrome and suggests new targets for treatment.

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Evidence of Zika virus found in tears


Researchers have found that Zika virus can live in eyes and have identified genetic material from the virus in tears, according to a study from Washington University School of Medicine in St. Louis.

The research, in mice, helps explain why some Zika patients develop eye disease, including a condition known as uveitis that can lead to permanent vision loss.

The study, published Sept. 6 in Cell Reports, describes the effect of Zika virus infection in the eyes of mouse fetuses, newborns and adults. The researchers now are planning complementary studies in patients infected with the virus...

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Study of grandmothers seeks clues about genetics of autism


In search of genetic clues regarding autism spectrum disorder, researchers at Washington University School of Medicine in St. Louis are launching a study focused on grandmothers.

Because autism has a strong genetic basis, rates of the disorder may be higher in the grandchildren of women who have had at least one child with an autism spectrum disorder than in the population as a whole...

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New CDC Funding Will Expand Knowledge about Children with Autism Spectrum Disorder

7/5/2016  Over the next five years, CDC will invest more than $27 million to carry out a new phase of the Study to Explore Early Development (SEED). SEED is one of the largest studies in the United States to help identify factors that may put children at risk for autism spectrum disorder (ASD) and other developmental disabilities. Understanding the risk factors that make a person more likely to develop an ASD will help us learn more about the causes...
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Social gaze patterns strikingly consistent between identical twins


Identical twins, who have virtually the same genetic material, show highly similar patterns of eye movements when looking at faces. Fraternal twins, who have about half their genes in common, show less similar gaze patterns.

The unpublished findings suggest that social gaze behavior is largely determined by genetics, rather than by the environment, says lead investigator John Constantino...

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Mouse models of Zika in pregnancy show how fetuses become infected


Two mouse models of Zika virus infection in pregnancy have been developed by a team of researchers at Washington University School of Medicine in St. Louis. In them, the virus migrated from the pregnant mouse’s bloodstream into the placenta, where it multiplied, then spread into the fetal circulation and infected the brains of the developing pups.

The models provide a basis to develop vaccines and treatments, and to study the biology of Zika virus infection in pregnancy.

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Newborn screening test developed for rare, deadly neurological disorder



Soon after birth, a baby’s blood is sampled and tested for a number of rare inherited conditions, such as cystic fibrosis and sickle cell anemia. But no such test has existed for a progressive neurodegenerative disease, called Niemann-Pick type C (NPC), that typically is not diagnosed until at least age 2, after neurological symptoms have begun to develop.

Now, a study led by Washington University School of Medicine in St. Louis describes a newborn screening test that identifies infants with NPC, an often fatal condition in which cholesterol builds up and eventually destroys brain cells. While there is no cure, early detection and treatment with disease-modifying therapies eventually may save lives and improve prospects for managing the disease in the future.
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Breast milk linked to significant early brain growth in preemies


Feeding premature babies mostly breast milk during the first month of life appears to spur more robust brain growth, compared with babies given little or no breast milk.

Studying preterm infants in the Neonatal Intensive Care Unit (NICU) at St. Louis Children’s Hospital, the researchers found that preemies whose daily diets were at least 50 percent breast milk had more brain tissue and cortical-surface area by their due dates than premature babies who consumed significantly less breast milk...

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Expanding Our Knowledge About the Science of Autism: Achievements from IDDRCs


by Scott Pomeroy, MD, PhD, Harvard Medical School.

As we acknowledge individuals with autism as well as advocates and allies during Autism Awareness and Acceptance Month, it is important to stop and consider the direct contributions of one's own peers. As a neurologist, I find myself particularly driven to reflect upon how significant advances in research lead to a greater understanding of autism that is relevant to individuals with autism, their families, and the broader community. Accordingly, I take pride in the accomplishments of my fellow researchers who conduct their work through the national network of Intellectual and Developmental Disabilities Research Centers (IDDRCs), supported and funded by the Eunice Kennedy Shriver National Institute of Child Health and Development of the National Institutes of Health (NIH)...

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Nurturing during preschool years boosts child’s brain growth


Children whose mothers were nurturing during the preschool years, as opposed to later in childhood, have more robust growth in brain structures...

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Mice with genetic defect for human stuttering offer new insight into speech disorder

4/14/2016  Animal model may help scientists understand molecular, neurological basis of stuttering
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$6.5 million to fund research, treatment of developmental disabilities


Researchers at Washington University School of Medicine in St. Louis have received a five-year, $6.5 million grant to study the physiological underpinnings of developmental disabilities in children and to use the findings to search for novel ways to improve such children’s lives.

The grant, from the Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health (NIH), renews funding for the university’s Intellectual and Developmental Disabilities Research Center (IDDRC).

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Constantino, Luby receive awards from child psychiatry academy


The American Academy of Child and Adolescent Psychiatry (AACAP) has honored two child psychiatrists at Washington University School of Medicine.

John N. Constantino, MD, the Blanche F. Ittleson Professor of Psychiatry and Pediatrics, received the organization’s 2015 George Tarjan Award for Contributions in Developmental Disabilities. Joan L. Luby, MD, the Samuel and Mae S. Ludwig Professor of Child Psychiatry, was awarded the AACAP’s Irving Phillips Award for Prevention.

Constantino directs the William Greenleaf Eliot Division of Child and Adolescent Psychiatry and the Intellectual and Developmental Disabilities Research Center at the School of Medicine. He was recognized for his work in determining risk and mechanisms of inherited susceptibility in the autism spectrum disorders. The Tarjan Award recognizes significant contributions to the understanding or care of those with mental retardation and developmental disabilities.

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Studying Autism in Individuals with NF1


Studying Autism in Individuals with NF1

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Schlaggar receives Sparkplug award


Bradley L. Schlaggar, MD, PhD, head of the Division of Pediatric and Developmental Neurology at Washington University School of Medicine in St. Louis, has been awarded the Frank Hatch “Sparkplug” Award for Enlightened Public Service by The John Merck Fund.

Schlaggar, the A. Ernest and Jane G. Stein Professor of Neurology, is the eighth recipient of the $50,000 prize, which the foundation presents annually to a grantee whose work embodies extraordinary creativity, dedication and foresight. Schlaggar, the neurologist-in-chief at St. Louis Children’s Hospital, is also a professor of radiology, anatomy and neurobiology, and pediatrics.

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