ROCHESTER, Minn. — Using human "mini-brain" models known as organoids, Mayo Clinic and Yale University scientists have discovered that the roots of autism spectrum disorder may be associated with an imbalance of specific neurons that play a critical role in how the brain communicates and functions. The specific cells are known as excitatory cortical neurons.

The new study is published in Nature Neuroscience.

The team found an abnormal imbalance of excitatory neurons in the forebrain of people with the disorder, depending on their head size.

"This organoid technology allowed us to recreate the brain development alteration that happened in the patients when they were in the uterus, which is believed to be the time when autism spectrum disorder originates," says Alexej Abyzov, Ph.D., a genomic researcher in the Department of Quantitative Health Sciences at the Mayo Clinic Center for Individualized Medicine. Dr. Abyzov is a senior author of the study.

Understanding autism spectrum disorder

Autism spectrum disorder is a neurological condition that affects the way people perceive and interact with others, leading to challenges in social communication and behavior. The term "spectrum" emphasizes the broad range of symptoms and severity, and includes autism, Asperger's syndrome, childhood disintegrative disorder and an unspecified form of pervasive developmental disorder. 

Nearly 1 in 36 children in the U.S. has been identified with autism spectrum disorder, according to estimates from the Centers for Disease Control’s Autism and Developmental Disabilities Monitoring Network.

Developing 3D brain models

For the study, the scientists first created miniature 3D brain-like models, called organoids. The pea-sized clusters of cells began as skin cells from people with autism spectrum disorder. The skin cells were placed in a culture dish and "reprogrammed" back into a stem-cell-like state, called induced pluripotent stem cells. These so-called master cells can be coaxed to develop into any cell in the body, including brain cells.  

Next, the scientists used a special technology called single-cell RNA sequencing to study the gene expression patterns of individual brain cells. In all, they examined 664,272 brain cells at three different stages of brain development.

The scientists also discovered that the neuron imbalance stemmed from changes in the activity of certain genes known as "transcription factors," which play a crucial role in directing the development of cells during the initial stages of brain formation.

Advancing autism research

This study builds on 13 years of published studies on autism spectrum disorder by Dr. Abyzov and his collaborators, including Flora Vaccarino, M.D., a neuroscientist at Yale University. In one pioneering study, they showed molecular differences in organoids between people with autism and those without and implicated the deregulation of a specific transcription factor called FOXG1 as an underlying cause of the disorder.

"Autism is mostly a genetic disease. Our goal is to be able to determine the risk of autism spectrum disorder and possibly prevent it in an unborn child using prenatal genetic testing. However, this would require detailed knowledge of how brain regulation gets derailed during development. There are many aspects in which organoids could help in this direction," says Dr. Abyzov.

Review the study for a complete list of authors, disclosures, and funding.

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About Mayo Clinic  
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DEAR MAYO CLINIC: My 2-year-old niece has had several issues since birth, and she is behind in her communications and attention. I wonder if she may be on the autism spectrum. Before I mention it to my sister, can you explain autism and how it is best treated?

ANSWER: Autism is one of a group of serious developmental problems called autism spectrum disorder that appears in early childhood — usually before age 3. Though symptoms and severity vary, all autism spectrum disorders affect children's ability to communicate and interact with others.

Children with autism generally have problems in three crucial areas of development: social interaction, language and behavior. Some children show signs of autism in early infancy. Other children may develop normally for the first few months or years of life, but then they suddenly become withdrawn or aggressive, or lose language skills they had already acquired.

Catching autism spectrum disorder early can improve quality of life. By recognizing the early signs and symptoms, you can help children learn, grow and thrive.

Some children show signs of autism spectrum disorder in early infancy, such as reduced eye contact, lack of response to their name or indifference to caregivers. Others develop normally for the first few months or years of life, but then they suddenly become withdrawn or aggressive, or lose language skills they had already acquired. Signs usually are seen by age 2.

Children with autism spectrum disorder are likely to have a unique pattern of behavior and level of severity — from low-functioning to high-functioning.

Some children with the disorder have difficulty learning, and some have signs of lower-than-normal intelligence. Other children have normal to high intelligence. While they learn quickly, they have trouble communicating and applying what they know in everyday life, and adjusting to social situations. Because children can have a unique mixture of symptoms, severity sometimes can be difficult to determine. Severity generally is based on the level of impairments and how those impairments affect functional ability.

Children with autism spectrum disorder may have problems with communication skills and social interaction. Common signs include:

• Fails to respond to their name or appears not to hear you at times.
• Resists cuddling and holding, and seems to prefer playing alone.
• Has poor eye contact and lacks facial expression.
• Doesn't speak or has delayed speech, or loses previous ability to say words or sentences.
• Can't start a conversation or keep one going.
• Speaks with an abnormal tone or rhythm, and may use a singsong voice or robotlike speech.
• Repeats words or phrases verbatim but doesn't understand how to use them.
• Doesn't appear to understand simple questions or directions.
• Doesn't express emotions or feelings, and appears unaware of others' feelings.
• Doesn't point at or bring objects to share interest.
• Inappropriately approaches social interactions by being passive, aggressive or disruptive.
• Has difficulty recognizing nonverbal cues, such as interpreting other people's facial expressions, body postures or tone of voice.

Children with autism spectrum disorder may have limited, repetitive patterns of behavior, interests or activities, including:

• Performs repetitive movements, such as hand-flapping, rocking or spinning.
• Performs activities that could cause self-harm, such as biting or head-banging.
• Develops specific routines or rituals, and becomes upset at the slightest change.
• Has problems with coordination or has odd movement patterns, and has odd, stiff or exaggerated body language.
• Is fascinated by details of an object, such as the spinning wheels of a toy car, but doesn't understand the overall purpose or function of the object.
• Is unusually sensitive to light, sound or touch, but may be indifferent to pain or temperature,
• Doesn't take part in imitative, make-believe play or cooperative play with other children.
• Fixates on an object or activity with abnormal intensity or focus.
• Only wants to eat a few specific foods or refuses foods with a certain texture.

Some children with the disorder become more engaged with others and show fewer disturbances in behavior as they mature. Those with the least severe problems eventually may lead normal or near-normal lives. Others, however, continue to have difficulty with language or social skills, and the teen years can bring worse behavioral and emotional problems.

Based on the signs and symptoms, if you believe your niece may have autism spectrum disorder, discuss this with your sister and encourage her to ask about developmental testing.

While there is no cure for autism, intensive, early diagnosis and treatment can make a big difference in the lives of many children with the disorder.

The ultimate goal of treatment is to increase children's ability to function, reduce symptoms, and help children's development and learning. Autism symptoms and severity differ greatly. Thus, treatment options for children diagnosed with autism also vary. Typically, treatment options can include individualized behavioral interventions, speech and occupational therapy, medications and other therapies that include the whole family.

Regardless of your niece's diagnosis, remind your sister that you are there for her and encourage her to talk to her health care provider about the treatment options that best suit her child's needs. — Dr. Tanushree Singhal, Pediatric and Adolescent Medicine, Mayo Clinic Health System, Eau Claire, Wisconsin

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Autism spectrum disorder is a condition related to brain development that affects how a person perceives and socializes with others, causing problems in social interaction and communication. The disorder also includes limited and repetitive patterns of behavior. The term "spectrum" in autism spectrum disorder refers to the wide range of symptoms and severity.

This special edition of the Mayo Clinic Q&A podcast features an #AskMayoMom episode, which is hosted by Dr. Angela Mattke, a pediatrician at Mayo Clinic Children's Center. Joining Dr. Mattke to discuss interventions and resources for children with autism is Dr. Maja Katusic a Mayo Clinic developmental-behavioral pediatrician.

Information in this post was accurate at the time of its posting. Due to the fluid nature of the COVID-19 pandemic, scientific understanding, along with guidelines and recommendations, may have changed since the original publication date.  

For more information and all your COVID-19 coverage, go to the Mayo Clinic News Network and mayoclinic.org.

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There is no cure for autism, but early, intensive interventions can make a big difference in the lives of many children and their families.

The Autism Society has named April as National Autism Awareness month. That organization not only wants to build awareness about the autism, but also they want to encourage the acceptance and appreciation of people with the condition.

In this Mayo Clinic Minute, Dr. Andrea Huebner, a Mayo Clinic psychologist, explains what autism is and how it impacts lives. Vivien Williams reports.

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Journalists: A broadcast-quality video pkg (0:57) is in the downloads. Read the script.

One in 68 children will be diagnosed with autism spectrum disorder. It's a condition that involves ...

"... significant impairments in social and communication skills," says Dr. Huebner. "[Kids with autism] have difficulty reading the social cues around them and then acting appropriately."

They may isolate themselves or make repetitive movements. Some cases are mild, others more severe. The good news is ...

"... we know more than we ever have before about autism and how to help children with autism," says Dr. Huebner.

Early treatment with applied behavioral analysis is key.

"Children are taught basic principles of social and communication," says Dr. Huebner.

Research into the causes of autism is ongoing. Dr. Huebner want people to know that ...

"... in general, children with autism do get better," she says. "The behaviors that are associated with autism that are so difficult for parents to manage do get better."

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Autism spectrum disorder

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