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The lifeflight legacy: 40 years in 40 photos, july 29, 2024, study sheds new light on autism, but there’s more work to be done.

A target of their investigations is serotonin, a signaling molecule that is well known for its critical roles in regulating mood and which also plays an important role in the development of the brain and nervous system.

Researchers from Columbia and Vanderbilt universities, the University of Illinois Chicago and colleagues across the country are making steady progress in their decades-long quest to understand autism spectrum disorder (ASD), a brain development condition that affects social interaction, communication and behavior.

In a recent study, the researchers measured blood levels of serotonin in women whose children were diagnosed with ASD. Some of the children carried rare genetic variations that strongly contribute to the risk of autism, while others did not.

In their paper, published July 4 in the Journal of Clinical Investigation , the researchers reported that higher serotonin levels were primarily found in women whose children who did not carry the rare variants.

This finding suggests that elevated maternal serotonin levels are associated with autism in a subset of children who have multiple common genetic or environmental factors which likely contribute to risk. Elevated levels are not found as frequently when a single, rare genetic variant explains most of the risk.

The link between autism-associated genetic variations and maternal serotonin levels was first described more than 60 years ago.

But it is a complicated picture that is not fully understood, noted James Sutcliffe , PhD, a pioneer in autism genetics at Vanderbilt University.

The study probed genetic samples from the University of Illinois Chicago (UIC) Autism Center of Excellence and from the UIC and Vanderbilt sites of the Simons Simplex Collection , a repository of samples from 2,600 families of children with ASD maintained by the Simons Foundation Autism Research Initiative.

The study did not have a control group — it did not compare maternal serotonin levels to those from women whose children do not have autism. Another limitation was that serotonin blood levels in the women were measured after their children had been diagnosed with ASD.

Taking measurements throughout pregnancy would provide a more complete picture of how maternal serotonin levels may relate to autism risk, said Jeremy Veenstra-VanderWeele , MD, the Ruane Professor of Psychiatry and director of the Division of Child & Adolescent Psychiatry at Columbia University Irving Medical Center in New York City.

Veenstra-VanderWeele is corresponding author of the paper. Before coming to Columbia in 2014, he directed the Division of Child and Adolescent Psychiatry at Vanderbilt University Medical Center and was medical director of the Treatment and Research Institute for Autism Spectrum Disorders ( TRIAD ) at the Vanderbilt Kennedy Center.

Sutcliffe, who co-authored the paper, is associate professor of Molecular Physiology & Biophysics and of Psychiatry & Behavioral Sciences at Vanderbilt.

Other co-authors are Edwin Cook , MD, also a pioneer in autism genetics who directs the Center for Neurodevelopmental Disorders and the Division of Child and Adolescent Psychiatry at UI Health, and colleagues from New York University and Yale University School of Medicine.

While the true nature of the relationship between serotonin levels and ASD remains elusive, clinical trials are underway at Vanderbilt and elsewhere to evaluate drugs that, by impacting the serotonin system, may relieve irritability or improve social functioning in children with autism.

Genetic studies also have led to the identification of other, possibly related health conditions in children with ASD, including previously undiagnosed cardiac abnormalities and severe epilepsy that occurs during sleep, Sutcliffe said.

The investigators hope that further research may lead to targeted interventions based upon ASD-associated genetic variation or biomarkers. That, Veenstra-Vanderweele said, would be “transformative” for children who are severely affected by autism.

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July 31, 2023

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Autism cures may be closer as focus turns to early treatment

by Vittoria D'alessio, Horizon: The EU Research & Innovation Magazine

Fresh insights into the genes that cause the neurological disorder could open new routes for the prevention and perhaps even reversal of symptoms.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition that has been intensely investigated since the mid-20th century. It's estimated that ASD affects around 1 in 100 children and mainly boys.

Studies suggest that ASD is closely linked to genetics. The basic challenge is untangling the relationships between the many genes involved and the symptoms.

Genes and symptoms

A focus on these links has the potential to enhance understanding of the condition and treatments for it.

For instance, children born with a rare genetic mutation—on a gene called BCKDK—are more likely to develop impairments that, left untreated, would likely result in lifelong autism. Symptoms can include intellectual disability, epilepsy and a condition—microcephaly—where a baby's head is smaller than expected.

The faulty gene in question disrupts the way the brain can process essential nutrients known as branched-chain amino acids and creates the conditions for delayed neurological development.

"This got us thinking: now we know what causes this neurodevelopmental disorder, can we reverse it once the brain has developed?" said Gaia Novarino, a neuroscience professor whose team discovered the BCKDK mutation and its link to autism in 2012. "Can we go back in time?"

Award winner

Novarino is a high-profile neuroscientist from Italy who has received numerous awards for her work in the field of autism research, including the Order of Merit of the Italian Republic.

"I have always been interested in genetic disorders and was struck by the general lack of understanding of pediatric, neurodevelopmental disorders," she said. "We know too little about these diseases."

Because autism shapes the developing brain long before birth, many assume it's irreversible—a lifelong condition that, at best, can be managed with psychological support paired with speech and physical therapy.

Some people prefer to forgo treatment because they don't believe autism needs to be cured, regarding it as an integral part of personality.

"Not everyone wants their ASD, or their child's ASD, to be treated," said Novarino. "If symptoms aren't profound, a person can live with the condition with minimal support and they may come to see their autism as an essential part of who they are."

In any case, more recent research has led scientists to assess whether some forms of ASD may be treatable—either fully or in part.

Novarino's team, based at the Institute of Science and Technology in Austria near Vienna, turned to mice for answers under a five-year European research project called REVERSEAUTISM that ended in September 2022.

The researchers genetically engineered mice to be unable to process essential amino acids correctly, similarly to children with the BCKDK genetic mutation.

Amino acids are protein building blocks needed for vital reactions within and between nerve cells. The body can't make amino acids itself and instead must find them from foods such as meat, fish, grains and nuts.

The team found that rodents with the mutation developed both motor and social difficulties after birth.

"These mice have behavioral issues," said Novarino. "They also move in a strange way, with coordination problems."

REVERSEAUTISM then took this research one step further to see whether, by injecting the missing amino acids directly into the brains of affected mice, their autism-like symptoms could be reversed.

"The answer was yes," said Novarino. "Not all symptoms disappeared, but there was considerable improvement in both social behavior and coordination in mice that received injections. In other words, some signs of the disorder were reversed."

Study of 21 infants

REVERSEAUTISM's findings so intrigued Dr. Angeles García-Cazorla of Spain that she decided to study whether children with a BCKDK deficiency showed symptom improvements after taking the missing amino acids as a food supplement in conjunction with a high-protein diet.

García-Cazorla is head of Metabolic Diseases Unit at the Hospital Sant Joan de Déu in Barcelona. The missing amino acids are leucine, valine and isoleucine.

The study was based on 21 patients, aged between 8 months and 16 months, recruited from centers around the world. The results were very promising.

"In general, all patients improved, in particular regarding the growth of their head, which means there was a proliferation of neurons," said García-Cazorla. "They also showed improved motor function. Infants who weren't able to walk could now walk and infants who couldn't speak developed some basic language."

Sooner the better

The earlier treatment was begun, the better the outcomes were.

"In the three children who started supplementation before the age of two, the evolution was much better and the child who started at 8 months did best—she had normal brain development, with no signs of autism, by the age of three," said García-Cazorla.

The study was carried out under an EU-initiated health alliance called the European Reference Network for Rare Hereditary Metabolic Disorders ( MetabERN ), which is led by patients and experts.

If future studies involving a larger cohort of BCKDK-deficient infants validate the results of the MetabERN investigation, García-Cazorla and Novarino hope national health policies will be changed to require all babies to be tested for BCKDK deficiency at birth.

This would form part of the newborn heel prick test, which checks up to 25 rare but serious health conditions.

"One of the challenges in the field of autism is that diagnosis is usually done quite late—rarely before the age of 3 or 4—and at that point it becomes hard to treat," said Novarino. "Our work shows that starting supplementation early can make a real difference to people's lives."

She and her team are pursuing this line of research in a European project called SecretAutism that began in December 2022 and will run through November 2027. They received EU funding to grow brain tissue in the laboratory using human stem cells.

By studying these "organoids," the researchers hope to gain further insights into what exactly the many different genes associated with autism are doing in the body, the stages at which problems develop and how to interrupt the process.

"We're approaching this from many angles, trying to understand how else we can treat patients with ASD," said Novarino. "It's very complex research, but that won't put us off."

• REVERSEAUTISM
• SecretAutism

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Breakthrough Study Discovers Unique Brain Cell Structures in Children With Autism

Neuronal measurements may offer fresh insights for diagnosing autism and developing therapeutic interventions.

New evidence suggests that the cells responsible for communication in the brain may be structured differently in children with autism. Researchers from the Del Monte Institute for Neuroscience at the University of Rochester found that neuron density in certain brain regions differs in children with autism compared to the general population.

“We’ve spent many years describing the larger characteristics of brain regions, such as thickness, volume, and curvature,” said Zachary Christensen, MD/PhD candidate at the University of Rochester School of Medicine and Dentistry, and first author of the paper recently published in the journal Autism Research . “However, newer techniques in the field of neuroimaging for characterizing cells using MRI, unveil new levels of complexity throughout development.”

Imaging provides new insight into brain development

Researchers used brain imaging data collected from more than 11,000 children ages 9-11. They compared the imaging of the 142 children in that group with autism, to the general population and found there was lower neuron density in regions of the cerebral cortex. Some of these regions of the brain are responsible for tasks like memory, learning, reasoning, and problem-solving. In contrast, the researchers also found other brain regions, such as the amygdala—an area responsible for emotions—that showed increased neuron density. In addition to comparing the scans of children with autism to those of children without any neurodevelopmental diagnosis, they also compared the children with autism to a large group of children diagnosed with common psychiatric disorders like ADHD and anxiety. The results were the same, suggesting that these differences are specific to Autism.

“People with a diagnosis of autism often have other things they have to deal with, such as anxiety, depression, and ADHD. But these findings mean we now have a new set of measurements that have shown unique promise in characterizing individuals with autism,” Christensen said. “If characterizing unique deviations in neuron structure in those with autism can be done reliably and with relative ease, that opens a lot of opportunities to characterize how autism develops, and these measures may be used to identify individuals with autism that could benefit from more specific therapeutic interventions.”

Technology leverages what we know about the inner workings of the brain and autism

Technology has transformed the level of precision and detail that investigators are now able to see in neuronal structure. Previously, researchers would only be able to see structural differences in neural populations postmortem. The imaging data used for this research were collected from the Adolescent Brain Cognitive Development (ABCD) study database. It is the largest long-term study of brain development and child health. The University of Rochester is one of 21 national sites collecting data for this study that began in 2015 and has revolutionized our understanding of adolescent brain health and development.

“We are at the beginning of understanding the true impact that the extraordinary data collected by the ABCD Study will have on the health of our children,” said John Foxe, PhD, senior author of the study, director of the Del Monte Institute for Neuroscience and the Golisano Intellectual and Developmental Disabilities Institute. “It is truly transforming what we know about brain development as we follow this group of children from childhood into early adulthood.”

Reference: “Autism is associated with in vivo changes in gray matter neurite architecture” by Zachary P. Christensen, Edward G. Freedman and John J. Foxe, 26 September 2024, Autism Research . DOI: 10.1002/aur.3239

Additional authors include Edward Freedman of the University of Rochester Medical Center. This research was supported by the Adolescent Brain Cognitive Development (ABCD) Study and the Translational Neuroimaging and Neurophysiology Core of the University of Rochester Intellectual and Developmental Disabilities Research Center.

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Scientists pinpoint main cause of sensory hypersensitivity in autism, cracking the autism code: brain study reveals four distinct subtypes, scientists reveal new potential therapeutic targets for mental and neurological disorders, neuroscientists discover previously unknown component of brain anatomy, gene mutation linked to autism found to overstimulate brain cells, surprising: rare human gene variant exposes fundamental sex differences, defective gene slows down brain cells: high-risk gene for developing autism, gene changes linked to severe repetitive behaviors seen in autism, schizophrenia, and drug addiction, evolutionary changes surrounding the nos1 gene.

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