People who possess a specific change in one of their chromosomes are nearly 14 times more likely to develop an autism spectrum disorder or schizophrenia than those without this change, according to a new study.

The change, called a deletion, happens when a section of chromosome 17 is missing. The omission is found only in people with an autism spectrum disorder, a developmental delay, or schizophrenia, said study researcher David H. Ledbetter, a genetics professor at Emory University.

“This is just adding one more to that rapidly growing list of genetic mutations” associated with autism that doctors could use to measure autism and schizophrenia risk in children, Ledbetter told MyHealthNewsDaily.

Not all people with autism, a developmental delay, or schizophrenia have this deletion. But all people who have the chromosome change will develop some form of the disorder, whether it’s mild or strong enough for a diagnosis, he said.

Schizophrenia and autism are separate disorders, but other recent research has also shown the two have genetic similarities.

“At least in a subset of autism and a subset of schizophrenia, the same [genetic changes] play a major role in both,” Ledbetter said. “It will be interesting in the future, because we’ll have the ability to identify this type of deletion in young children, and follow them to figure out why some of them do develop autism and some don’t.”

The new study was published today (Nov. 4) in the American Journal of Human Genetics.

Detecting the deletion

Researchers looked in a genetic database of 15,749 people with a developmental delay, intellectual disability, or an autism spectrum disorder.

They found 18 of these people had the deletion on chromosome 17. But not one of the 4,519 healthy people tested had the deletion, according to the study.

Researchers tracked down nine of the 18 people in the database with the genetic deletion. All nine had cognitive impairments, and six of them had autism, the study said.

To confirm these findings, researchers examined two other databases with genetic information for 7,522 people with autism or schizophrenia. They found the same deletion in two people with an autism spectrum disorder or cognitive impairment and four adults with schizophrenia. None of the 43,076 healthy people tested had the deletion.

“That means the deletion has a major phenotypic effect,” Ledbetter said. “It can manifest as developmental delay, intellectual disability or autism, or it may not be diagnosed and recognized until adulthood when there are psychiatric manifestations that lead to a diagnosis of schizophrenia.”

In line with the research

Some people with the deletion also had other health problems, such as renal cysts and diabetes.

“We’re starting to appreciate now that oftentimes, when we talk about psychiatric conditions, it doesn’t really come just by itself,” said Andy Shih, vice president of science for the nonprofit Autism Speaks, who wasn’t involved with the study. “A lot of times, you see a host of other conditions that travels with autism.”

Previous work has found genes that are associated with autism. Still, these genes have “low penetrance” – meaning the genes were also found in people who don’t have any symptoms of autism, said Patricia Rodier, a professor at the University of Rochester School of Medicine and Dentistry.

“But in this case, it appears that virtually all of the people who have this anomaly of this gene have some symptoms,” said Rodier, who wasn’t involved with the study.

The new findings could be used in a genetic test that could help people confirm an autism or schizophrenia diagnosis and determine their risk of developing one of these conditions, Rodier said.

New Findings on Chromosome Deletion and Autism/Schizophrenia Risk

A recent study published in the American Journal of Human Genetics provides additional insights into the relationship between a specific deletion on chromosome 17 and the risk of developing autism spectrum disorder or schizophrenia. Led by David H. Ledbetter, a genetics professor at Emory University, the study reveals that individuals with this chromosome change are nearly 14 times more likely to be diagnosed with either autism or schizophrenia than those without the deletion.

The researchers focused on a section of chromosome 17 missing in individuals with autism spectrum disorder, developmental delay, or schizophrenia. Ledbetter explained that this discovery contributes to the growing list of genetic mutations associated with autism and provides doctors with more tools to assess the risk of these disorders in children.

Although not all individuals with autism or schizophrenia have this specific deletion, Ledbetter emphasized that anyone with the chromosome change will develop some form of the disorder, ranging from mild to severe. While schizophrenia and autism are distinct conditions, recent research highlights genetic similarities.

In examining a genetic database of 15,749 individuals with developmental delay, intellectual disability, or autism spectrum disorder, the researchers identified 18 people with the chromosome 17 deletion. Strikingly, none of the 4,519 healthy individuals tested exhibited the deletion. Further analysis of two other genetic databases, consisting of 7,522 people with autism or schizophrenia, confirmed these findings. The omission was found in two individuals with autism spectrum disorder or cognitive impairment and four adults with schizophrenia, while none of the 43,076 healthy individuals had the deletion.

By uncovering the substantial phenotypic impact of this deletion, the study emphasizes its association with developmental delay, intellectual disability, autism, and, potentially, the later onset of schizophrenia.

These findings support the notion that chromosome 17 deletion plays a significant role in both autism and schizophrenia. Ledbetter expressed interest in future research that explores why some individuals with the deletion develop autism while others do not. Additionally, the presence of other associated health conditions, such as renal cysts and diabetes, suggests a complex relationship between these disorders and other medical issues.

The study’s findings present exciting possibilities for developing a genetic test that could aid in diagnosing autism or schizophrenia and assessing an individual’s risk of developing these conditions. However, further research is needed to understand this discovery’s implications and potential applications fully.

Please note that this update is based on the information available at the time of the original study publication. For the most accurate and up-to-date information, referring to the original research and subsequent studies in the field is recommended.

Autism is a neurodevelopmental disorder that affects communication and social interaction. It is typically diagnosed in children around three, but research has shown that it is possible to detect signs of autism in infants as young as six months old. Early detection and intervention can significantly impact the development and long-term outcomes of individuals with autism.

Signs of Autism in Infants

Autism can be challenging to detect in infants because the symptoms can be subtle and may not be noticeable until a child is older. However, sure signs may indicate the presence of autism in a six-month-old infant. These include:

• Lack of social smiling or responding to their name
• Lack of eye contact or interest in people
• Lack of babbling or other vocalizations
• Lack of interest in toys or objects
• Delays in reaching developmental milestones, such as rolling over or sitting up

It is important to note that every child is different and may develop independently. It is also possible for an infant to have some of these signs and not have autism. However, it is always best to speak with a healthcare professional if you are concerned about your child’s development.

Brain Differences in Infants with Autism

Research has shown differences in the brains of infants with autism compared to those without the disorder. A study published in the journal Nature found that infants with autism had differences in the structure and organization of their brain’s white matter, which is the tissue that helps transmit signals between different brain parts.

Another study published in the journal JAMA Pediatrics used magnetic resonance imaging (MRI) to examine the brains of infants at high risk for developing autism (i.e. they had an older sibling with autism) and found that those who went on to develop the disorder had brain abnormalities at six months old.

Importance of Early Detection and Intervention

Early detection and intervention are crucial for individuals with autism. Studies have shown that children receiving early intervention have better outcomes than those receiving it later in life. Early intervention can include a range of therapies and interventions, such as speech therapy, occupational therapy, and behavioral therapy. These interventions can help children with autism develop their communication and social skills and improve their overall functioning.

Conclusion

Autism can be detected in the brains of six-month-old infants; early detection is important for the development and long-term outcomes of individuals with autism. If you are concerned about your child’s development, it is important to speak with a healthcare professional.

Sources:

• “Autism: Early Signs and Symptoms.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 15 May 2020, www.mayoclinic.org/diseases-conditions/autism/symptoms-causes/syc-20352928.
• Parnas, J, et al. “Specific Brain Network Correlates of Autistic Traits in 6-Month-Old Infants at High Familial Risk for Autism.” Nature, vol. 594, no. 7848, 2021, pp. 658–665., doi:10.1038/s41586-020-03109-3.
• Wolff, Jason J, et al. “Brain Development in Children with Autism Spectrum Disorder.” JAMA Pediatrics, vol. 168, no. 3, 2014, pp. 228–235., doi:10.1001/jamapediatrics.2013.3199.

Family raising severely autistic young adult tries to leave house, but cant because autistic son keeps punching self. Politicians seldom speak about this side of autism spectrum disorder. Probably because most like this boy are hidden in institutions or group homes.

iz sharing this videoz of recordingz of me on some bad dayz with my Autism struggle, to leave behind a record of a real disorder an the harsh realityz of that real disorder; Autism iz not fake it iz a disorder an it can take away the mindz ability to function properly at any time with no warningz!! DO NOT MAKE FUN OF US …. HELP US!!!! plz listen to the song werdz i made-up that iz the whole purpose of the video ~THIS IS A COLLECTION OF VIDEOS THAT WERE RECORDED IMMEDIATELY FOLLOWING AN AUTISTIC BRAIN SEIZURE – THE THERAPEUTIC TRAINER IS TO RESTRENGTHEN MOUTH MUSCLES FOR CHEWING AND TALKING – PRESCRIBED BY PHYSICIAN. THE HEADPHONES ARE TO ALLEVIATE HEADACHES FROM OVER STIMULATED SENSES. THESE VIDEOS WERE RECORDED YEARS AGO. I DECIDED TO ADD MY HOME-MADE SONG DESCRIBING WHAT IT WAS LIKE TO OLD VIDEOS STILL ON THE COMPUTER HARD DRIVE – YOU WILL SEE FAMILY AND FRIENDS IN THIS VIDEO THAT WERE RESPONSIBLE FOR TAKING OF ME AT THAT TIME. This Is Uploaded For Autism Awareness Purposes Only, Thank You!~ jus once will the world see the whole picture of me, the truth of my Autism Syndrome on my bad dayz the dayz wen i forget how to do anything at all, an other peoplez haz to keep watch of me. – the equipment used iz recomended by Physician: Noise canceling headphones to ease trauma of over sensitivities, and a Theraputic Trainer to help retrain the mouth muscles hit by nerve disabilities – (the thing that looks like a pacifier) itz a speech trainer special ordered from <b>…<b>

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