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MRI Reveals Striking Brain Differences in People with Genetic Autism

Posted by on Aug. 14, 2017 at 2:05 AM
  • 6 Replies
1 mom liked this

SOURCE: www.sciencedaily.com/releases/2017/08/170808074314.htm

 

In the first major study of its kind, researchers using MRI have identified structural abnormalities in the brains of people with one of the most common genetic causes of autism, according to a new study published online in the journal Radiology. The abnormalities visible on brain images corresponded to cognitive and behavioral impairments in the study group, suggesting a future role for imaging in identifying people with autism who are in most urgent need of intervention.

Autism spectrum disorders are a group of developmental problems, affecting more than 3.5 million people in the U.S., according to the Centers for Disease Control and Prevention. Symptoms typically appear early in life and frequently include communication problems and repetitive behaviors. Many people with autism have abnormalities at a specific site on the 16th chromosome known as 16p11.2. Deletion or duplication of a small piece of chromosome at this site is one of the most common genetic causes of autism spectrum disorder.

"People with deletions tend to have brain overgrowth, developmental delays and a higher risk of obesity," said study author Julia P. Owen, Ph.D., a brain researcher at the University of Washington in Seattle, who was at the University of California in San Francisco (UCSF) during the study. "Those with duplications are born with smaller brains and tend to have lower body weight and developmental delays."

The researchers at UCSF and four other sites performed structural MRI exams on 79 deletion carriers, ranging in age from 1 to 48, and 79 duplication carriers, ages 1 to 63, along with 64 unaffected family members and 109 participants in a control group.

The participants completed a battery of cognitive and behavioral tests, and neuroradiologists reviewed the brain images for development-related abnormalities. The results showed some striking differences in the brain structures of deletion and duplication carriers compared with non-carriers. For instance, the corpus callosum, the fiber bundle that connects the left and right sides of the brain, was abnormally shaped and thicker in the deletion carriers but thinner in the duplication carriers, compared to the control group and familial non-carriers.

Other stark differences were apparent. The deletion carriers displayed features of brain overgrowth, including the extension of the cerebellum, the bottom back part of the brain, toward the spinal cord. The duplication carriers showed characteristics of brain undergrowth, such as decreased white matter volume and larger ventricles -- the cavities in the brain filled with cerebrospinal fluid.

When the researchers compared cognitive assessments to imaging findings, they found that the presence of any imaging feature associated with the deletion carriers -- such as a thicker corpus callosum -- indicated worse daily living, communication and social skills, compared to deletion carriers without any radiological abnormalities. For the duplication carriers, the presence of decreased white matter and corpus callosal volume and increased ventricle size was associated with decreased full-scale and verbal IQ scores, compared to duplication carriers without those findings.

Key to the study's strength was its access to a large, diverse group of 16p11.2 deletion and duplication carriers, according to senior author Elliott Sherr, M.D., Ph.D., head of the Brain Development Research Program at UCSF.

"Often studies like this focus on high-functioning individuals, but this was an 'all-comers' group," he said. "We didn't do mathematical algorithms but rather used the trained eyes of neuroradiologists to evaluate the scans of a full range of individuals. When you look at a broad range of people like this, from developmentally normal to more significantly challenged, you're better able to find these correlations."

by on Aug. 14, 2017 at 2:05 AM
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TigerofMu
by on Aug. 14, 2017 at 8:41 AM

This is really interesting information and I hope they keep researching.

MamaLauri
by Silver Member on Aug. 14, 2017 at 1:38 PM
1 mom liked this

This applies to a select very very small number (they talk of a large, diverse group of 160, when actually this is 160 out of 7 million) of people with ASD. These are the most severe forms that are less responsive to treatment. So you can't generalize the results to the majority of people with ASD. We know that if there is significant trauma to the brain like lead poisioning or tramatic brain injury a child will have severe ASD like symptoms.

Yes, reduced hemispheric connectivity is found in ASD and ADHD. It is also found in the gifted.

I tend to go off on wasting the precious little ASD reseach $$ on studies that have very limited value, but make people with ASD look bad. The article makes it sound like it is an important finding that will bring about new understanding, which is very untrue.

Very little $$ is spent on understanding and increasing availablity of treatments that have been helping people for over 20 years.

This is my rant.

MamaLauri
by Silver Member on Aug. 14, 2017 at 2:49 PM

I was ranting above so did not explain well. Babies are born with most of their neurons at birth, but roughly 1% of their adult connections. Like a muscle, the more you use a pathway, the thicker it gets. So learning is about pathways and connections. This is taught in high school biology. People with ASD and ADHD have different connections than typical, because they are using their brains differently. It was noted that untrained dyslexics have different pathways than readers, but after a good training program where the dyslexics learned to read at grade level, the pathways became similar between the now reading dyslexics and original readers. The same before and after was found true with imitation in ASD and the "mirror neuron" pathway. Once sucessfully taught the pathways in ASD and typical became similar.

This is well know in the learning disorder research community. There are programs that have successfully treated kids for 30 years. Such as Sally Rogers, Ph.D Early Start Denver Model (ESDM) and others (see Intervention in 6-month-olds with autism ameliorates symptoms, alleviates developmental delay https://www.ucdmc.ucdavis.edu/publish/news/newsroom/9182).

Kids with ASD have different brain MRIs starting at 2 days old. Doing scans before and after the ESDM would help us better understand how to dx and treat, which this study does not. It also would help parents to know what services their child needs.

repetition
by Member on Aug. 16, 2017 at 11:17 AM

I'm thankful they looked at individuals with low functioning Autism.

My son has been in early intervention/therapy/meds/special classrooms since he was two and a half. He is non verbal, not toilet trained, does not understand danger, and self mutilates. He has no friends, he won't play with toys, nothing. I FUCKING hate Autism. I have tried every FUCKING thing. If this research gives some kind of insight of how to treat severe cases of low functioning people I welcome more information.

My body is shot. I've had back surgery. I need surgery on my hand. I need sinus surgery. I've had my foot in a boot. I'm not even 40.

My older son has tried to commit suicide more than once because he cannot stand having siblings with Autism. We DO NOTHING as a family. He wants nothing to do with us when he's 18. I'm going to lose another child in a few short months. Now I have 2 kids with Autism low and high functioning. AUTISM FUCKING SUCKS.

I absoultley welcome research if it leads to a cure. Yes, a CURE. My son cannot and will not ever lead a normal life. He isn't some quirky savant Rainman/Sheldon Cooper/genius. If he gets a job as a Walmart greeter that will be a success. How pathetic is that? That is all I have to hope for and that is even far reaching. He still wears diapers.

MamaLauri
by Silver Member on Aug. 18, 2017 at 7:47 AM

No, this study is a "Isn't that interesting" kind of study, offering no information in cause, dx, or treatment.

Quoting repetition:

I'm thankful they looked at individuals with low functioning Autism.

My son has been in early intervention/therapy/meds/special classrooms since he was two and a half. He is non verbal, not toilet trained, does not understand danger, and self mutilates. He has no friends, he won't play with toys, nothing. I FUCKING hate Autism. I have tried every FUCKING thing. If this research gives some kind of insight of how to treat severe cases of low functioning people I welcome more information.

My body is shot. I've had back surgery. I need surgery on my hand. I need sinus surgery. I've had my foot in a boot. I'm not even 40.

My older son has tried to commit suicide more than once because he cannot stand having siblings with Autism. We DO NOTHING as a family. He wants nothing to do with us when he's 18. I'm going to lose another child in a few short months. Now I have 2 kids with Autism low and high functioning. AUTISM FUCKING SUCKS.

I absoultley welcome research if it leads to a cure. Yes, a CURE. My son cannot and will not ever lead a normal life. He isn't some quirky savant Rainman/Sheldon Cooper/genius. If he gets a job as a Walmart greeter that will be a success. How pathetic is that? That is all I have to hope for and that is even far reaching. He still wears diapers.


repetition
by Member on Aug. 20, 2017 at 7:45 PM

Autsim still sucks. I hate it and I want a cure. I don't expect it will happen in my lifetime. If it helps another family not have the pain of raising an Autistic child, I am for more studies that meet your criteria.

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