PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Could we assess autism in children with a simple eye reflex test?

Scientists link disruption of a sensitive eye reflex to profound autism, creating opportunities for faster diagnosis and new treatment

2024-02-28
(Press-News.org) Scientists at UC San Francisco may have discovered a new way to test for autism by measuring how children’s eyes move when they turn their heads.  
 
They found that kids who carry a variant of a gene that is associated with severe autism are hypersensitive to this motion.  
 
The gene, SCN2A, makes an ion channel that is found throughout the brain, including the region that coordinates movement, called the cerebellum. Ion channels allow electrical charges in and out of cells and are fundamental to how they function. Several variants of this gene are also associated with severe epilepsy and intellectual disability. 
 
The researchers found that children with these variants have an unusual form of the reflex that stabilizes the gaze while the head is moving, called the vestibulo-ocular reflex (VOR). In children with autism, it seems to go overboard, and this can be measured with a simple eye-tracking device.  
 
The discovery could help to advance research on autism, which affects 1 out of every 36 children in the United States. And it could help to diagnose kids earlier and faster with a method that only requires them to don a helmet and sit in a chair.   
 
“We can measure it in kids with autism who are non-verbal or can't or don’t want to follow instructions,” said Kevin Bender, PhD, a professor in the UCSF Weill Institute for Neurosciences and co-senior author of the study, which appears Feb. 26 in Neuron. “This could be a game-changer in both the clinic and the lab.” 

A telltale sign of autism in an eye reflex 
 
Of the hundreds of gene mutations associated with autism, variants of the SCN2A gene are among the most common.  
 
Since autism affects social communication, ion channel experts like Bender had focused on the frontal lobe of the brain, which governs language and social skills in people. But mice with an autism-associated variant of the SCN2A gene did not display marked behavioral differences associated with this brain region.  
 
Chenyu Wang, a UCSF graduate student in Bender’s lab and first author of the study, decided to look at what the SCN2A variant was doing in the mouse cerebellum. Guy Bouvier, PhD, a cerebellum expert at UCSF and co-senior author of the paper, already had the equipment needed to test behaviors influenced by the cerebellum, like the VOR. 
 
The VOR is easy to provoke. Shake your head and your eyes will stay roughly centered. In mice with the SCN2A variant, however, the researchers discovered that this reflex was unusually sensitive. When these mice were rotated in one direction, their eyes compensated perfectly, rotating in the opposite direction.  
 
But this increased sensitivity came at a cost. Normally, neural circuits in the cerebellum can refine the reflex when needed, for example to enable the eyes to focus on a moving object while the head is also moving. In SCN2A mice, however, these circuits got stuck, making the reflex rigid. 

A mouse result translates nearly perfectly to kids with autism 
 
Wang and Bender had uncovered something rare: a behavior that arose from a variant to the SCN2A gene that was easy to measure in mice. But would it work in people?  
 
They decided to test it with an eye-tracking camera mounted on a helmet. It was a “shot in the dark,” Wang said, given that the two scientists had never conducted a study in humans. 
 
Bender asked several families from the FamilieSCN2A Foundation, the major family advocacy group for children with SCN2A variants in the US, to participate. Five children with SCN2A autism and eleven of their neurotypical siblings volunteered.  
 
Wang and Bender took turns rotating the children to the left and right in an office chair to the beat of a metronome. The VOR was hypersensitive in the children with autism, but not in their neurotypical siblings.  
 
The scientists could tell which children had autism just by measuring how much their eyes moved in response to their head rotation. 

A CRISPR cure in mice 

The scientists also wanted to see if they could restore the normal eye reflex in the mice with a CRISPR-based technology that restored SCN2A gene expression in the cerebellum. 
 
When they treated 30-day-old SCN2A mice – equivalent to late adolescence in humans – their VOR became less rigid but was still unusually sensitive to body motion. But when they treated 3-day-old SCN2A mice – early childhood in humans – their eye reflexes were completely normal. 
 
“These first results, using this reflex as our proxy for autism, point to an early window for future therapies that get the developing brain back on track,” Wang said. 
 
It’s too early to say whether such an approach might someday be used to directly treat autism. But the eye reflex test, on its own, could clear the way to more expedient autism diagnosis for kids today, saving families from long diagnostic odysseys.  
 
“If this sort of assessment works in our hands, with kids with profound, nonverbal autism, there really is hope it could be more widely adopted,” Bender said.  
 
For funding and disclosures, see the paper. 
 
Other UCSF authors are Kimberly D. Derderian, Elizabeth Hamada, Xujia Zhou, Andrew D. Nelson, Henry Kyoung, and Nadav Ahituv. Guy Bouvier is now a professor of neuroscience at the Université Paris-Saclay, France. 

 

About UCSF: The University of California, San Francisco (UCSF) is exclusively focused on the health sciences and is dedicated to promoting health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care. UCSF Health, which serves as UCSF's primary academic medical center, includes top-ranked specialty hospitals and other clinical programs, and has affiliations throughout the Bay Area. UCSF School of Medicine also has a regional campus in Fresno. Learn more at https://ucsf.edu, or see our Fact Sheet.

###

 

Follow UCSF
ucsf.edu | Facebook.com/ucsf | YouTube.com/ucsf

 

END


ELSE PRESS RELEASES FROM THIS DATE:

Researchers closer to understanding hydrogen's great challenge

2024-02-28
Why hydrogen causes steels to become brittle and crack is the great conundrum of engineers and researchers looking to develop large-scale transport and storage solutions for the hydrogen age – an era which Australia hopes to lead by 2030. They may now be one step closer to understanding how hydrogen affects steels, thanks to new University of Sydney research. The researchers found adding the chemical element molybdenum to steel reinforced with metal carbides markedly enhances its ability to ...

Concerted efforts urgently needed to meet 2030 Global Alcohol Action Plan targets

2024-02-28
Concerted international efforts are urgently needed to meet the targets set out in the 2030 Global Alcohol Action Plan (GAAP) and avert “dire consequences” for low and middle income countries, where alcohol markets are expanding, warn health scientists in the open access journal BMJ Global Health.   A lack of progress on alcohol and health in the wake of the 2010 Global Strategy for Reducing the Harmful Use of Alcohol prompted the 75th World Health Assembly to initiate the Global Alcohol Action Plan 2022-30 and declare alcohol a public health priority, ...

Sinusitis linked to 40% heightened risk of rheumatic disease

2024-02-28
The common inflammatory condition sinusitis is linked to a 40% heightened risk of a subsequent diagnosis of rheumatic disease, particularly in the 5 to 10 years preceding the start of symptoms, finds research published in the open access journal RMD Open.   The risks seem to be greatest for a blood clotting disorder (antiphospholipid syndrome) and a condition that affects the body’s production of fluids, such as spit and tears, known as Sjögren’s syndrome, the findings indicate. Sinusitis refers to inflammation of the lining of ...

Poorly controlled asthma emits same quantity of greenhouse gas as 124,000 homes each year in the UK

2024-02-28
Patients whose asthma is poorly controlled have eight times excess greenhouse gas emissions compared with those whose condition is well controlled—equivalent to that produced by 124,000 homes each year in the UK—indicates the first study of its kind, published online in the journal Thorax. Improving the care of asthma patients could achieve substantial carbon emissions savings, and help the NHS meet its net zero target, say the researchers. Healthcare is a major contributor to greenhouse gas emissions and in 2020 the NHS set an ambitious target of reducing its carbon footprint by 80% over the next 15 years, with the aim of reaching net zero by 2045, ...

Whole genome sequencing reveals new genetic marker for cardiomyopathy

2024-02-28
In the first study to use whole genome sequencing to examine tandem repeat expansions in heart conditions, scientists at The Hospital for Sick Children (SickKids) have laid the groundwork for early detection of and future precision therapies for cardiomyopathy.  Cardiomyopathy is an inherited heart condition that impacts up to one in 500 individuals. The condition affects the structure and function of the heart and can ultimately lead to heart failure.  The SickKids-led study, published in eBioMedicine, part of The Lancet Discovery Science, indicates that tandem repeats – a form of genetic variation – are more often expanded ...

The West is best to spot UFOs

The West is best to spot UFOs
2024-02-28
“This [Tic Tac-shaped object that] had just traveled 60 miles in…less than a minute, was far superior in performance to my brand-new F/A-18F and did not operate with any of the known aerodynamic principles that we expect for objects that fly in our atmosphere.”  In July of 2023, retired commander in the U.S. Navy David Fravor testified to the House Oversight Committee about a mysterious, Tic Tac-shaped object that he and three others observed over the Pacific Ocean in 2004. The congressional hearings riveted ...

Therapy could be effective treatment for non-physical symptoms of menopause

2024-02-28
Interventions such as mindfulness and cognitive behavioural therapy (CBT), could be an effective treatment option for menopause-related mood symptoms, memory and concentration problems, finds a new study by UCL researchers. The research, published in the Journal of Affective Disorders, is the most up-to-date study of its kind, providing a meta-analysis of 30 studies involving 3,501 women who were going through the menopause in 14 countries, including the UK, USA, Iran, Australia, and China. Lead author, Professor Aimee Spector (UCL Psychology & Language Sciences), said: “Women can spend a notable number of years in their ...

Artificial intelligence has huge potential in infection control, as long as the right questions are asked and safeguards are in place

2024-02-28
*Please mention the European Congress of Clinical Microbiology and Infectious Diseases (ECCMID 2024, Barcelona, 27-30 April) if using this material* A new research review to be given at a pre-congress day for this year’s European Congress of Clinical Microbiology and Infectious Diseases (ECCMID 2024) will look at the many ways artificial intelligence can help prevent infectious disease outbreaks including ensuring staff wear personal protective equipment correctly and managing day-to-day hospital activities ...

How artificial intelligence could improve speed and accuracy of response to infectious disease outbreaks in hospitals, and even prevent them

2024-02-28
*Please mention the European Congress of Clinical Microbiology and Infectious Diseases (ECCMID 2024, Barcelona, 27-30 April) if using this material* A new research review to be given at a pre-congress day for this year’s European Congress of Clinical Microbiology and Infectious Diseases (ECCMID 2024) will highlight the potential artificial intelligence (AI) has to improve the speed and accuracy of investigations into infectious disease outbreaks in hospitals, and potentially provide real time information to stop or prevent them. The talk will be by Dr Jonas Marschall, Division of Infectious Diseases, Washington University School ...

Walleye struggle with changes to timing of spring thaw

2024-02-27
Walleye are one of the most sought-after species in freshwater sportfishing, a delicacy on Midwestern menus and a critically important part of the culture of many Indigenous communities. They are also struggling to survive in the warming waters of the Midwestern United States and Canada. According to a new study published Feb. 26 in the journal Limnology and Oceanography Letters, part of the problem is that walleye are creatures of habit, and the seasons — especially winter — are changing so fast that this iconic species of freshwater fish can’t keep up. The timing of walleye spawning ...

LAST 30 PRESS RELEASES:

Sensitive ceramics for soft robotics

Trends in hospitalizations and liver transplants associated with alcohol-induced liver disease

Spinal cord stimulation vs medical management for chronic back and leg pain

Engineered receptors help the immune system home in on cancer

How conflicting memories of sex and starvation compete to drive behavior

Scientists discover ‘entirely unanticipated’ role of protein netrin1 in spinal cord development

Novel SOURCE study examining development of early COPD in ages 30 to 55

NRL completes development of robotics capable of servicing satellites, enabling resilience for the U.S. space infrastructure

Clinical trial shows positive results for potential treatment to combat a challenging rare disease

New research shows relationship between heart shape and risk of cardiovascular disease

Increase in crisis coverage, but not the number of crisis news events

New study provides first evidence of African children with severe malaria experiencing partial resistance to world’s most powerful malaria drug

Texting abbreviations makes senders seem insincere, study finds

Living microbes discovered in Earth’s driest desert

Artemisinin partial resistance in Ugandan children with complicated malaria

When is a hole not a hole? Researchers investigate the mystery of 'latent pores'

ETRI, demonstration of 8-photon qubit chip for quantum computation

Remote telemedicine tool found highly accurate in diagnosing melanoma

New roles in infectious process for molecule that inhibits flu

Transforming anion exchange membranes in water electrolysis for green hydrogen production

AI method can spot potential disease faster, better than humans

A development by Graz University of Technology makes concreting more reliable, safer and more economical

Pinpointing hydrogen isotopes in titanium hydride nanofilms

Political abuse on X is a global, widespread, and cross-partisan phenomenon, suggests new study

Reintroduction of resistant frogs facilitates landscape-scale recovery in the presence of a lethal fungal disease

Scientists compile library for evaluating exoplanet water

Updated first aid guidelines enhance care for opioid overdose, bleeding, other emergencies

Revolutionizing biology education: Scientists film ‘giant’ mimivirus in action

Genetic variation enhances cancer drug sensitivity

Protective genetic mutation offers new hope for understanding autism and brain development

[Press-News.org] Could we assess autism in children with a simple eye reflex test?
Scientists link disruption of a sensitive eye reflex to profound autism, creating opportunities for faster diagnosis and new treatment