Mice Study Sheds Light on Angelman Syndrome

(photo: www.angelmanbehaviors.org)

(photo: www.angelmanbehaviors.org)

There are a variety of disorders and conditions on the autism spectrum, as well as several that have overlapping symptoms with ASD. A new study focuses on an autism-related genetic disorder called Angelman Syndrome.

 
The study focused on the seizure aspect of the disorder, as ninety percent of children with Angelman Syndrome experience seizures.
 
A mutated or complete lack of a specific group of neurons, called UBE3A, is linked to the disorder. The researchers aimed to pinpoint how the neurons, or lack of, can influence the brain network, which could be resulting in the seizures.
 
“If we can home in on how UBE3A loss is altering circuitry, I think that will give us more clues as to what therapeutics will help,” said lead researcher and professor of neuroscience at the University of North Carolina at Chapel Hill, Benjamin Philpot.
 
Using mice as test subjects, Philpot and his fellow researchers found that the rodents that lacked the gene also had a dwindling level of inhibitory activity. The mice were put into sets based off how the scientists deleted the gene from their neurons, those that increase brain activity, and those that decrease it. Seizures from the inhibitory neurons, the ones that decreased activity, were triggered in the mice by specific convulsant drug or loud noises.
 
 A sleeping drug was shown to improve the motor coordination problems in the mouse with Angelman Syndrome.
 
The mice with the mutated inhibitory neurons were also shown to have issues in brain activity, evident from electroencephalography. This resulted in seizures that were more severe than those that completely lacked the neurons. Fifteen percent of the mice with these mutated neurons died before they were ever three months old.
For more information, check out the source for this blog post, Spectrum News.
Written byNicole Caropolo
Posted in Autism News | Comments closed

Telehealth is Efficient for ASD

Mice Study Sheds Light on Angelman Syndrome
 
There are a variety of disorders and conditions on the autism spectrum, as well as several that have overlapping symptoms with ASD. A new study focuses on an autism-related genetic disorder called Angelman Syndrome.
 
The study focused on the seizure aspect of the disorder, as ninety percent of children with Angelman Syndrome experience seizures.
 
A mutated or complete lack of a specific group of neurons, called UBE3A, is linked to the disorder. The researchers aimed to pinpoint how the neurons, or lack of, can influence the brain network, which could be resulting in the seizures.
 
“If we can home in on how UBE3A loss is altering circuitry, I think that will give us more clues as to what therapeutics will help,” said lead researcher and professor of neuroscience at the University of North Carolina at Chapel Hill, Benjamin Philpot.
 
Using mice as test subjects, Philpot and his fellow researchers found that the rodents that lacked the gene also had a dwindling level of inhibitory activity. The mice were put into sets based off how the scientists deleted the gene from their neurons, those that increase brain activity, and those that decrease it. Seizures from the inhibitory neurons, the ones that decreased activity, were triggered in the mice by specific convulsant drug or loud noises.
 
 A sleeping drug was shown to improve the motor coordination problems in the mouse with Angelman Syndrome.
 
The mice with the mutated inhibitory neurons were also shown to have issues in brain activity, evident from electroencephalography. This resulted in seizures that were more severe than those that completely lacked the neurons. Fifteen percent of the mice with these mutated neurons died before they were ever three months old.
 
For more information, check out the source for this blog post, Spectrum News.

With today’s technology, we are able to do remarkable things. It used to be unheard of to get an accurate medical diagnosis on the computer, and now it’s a growing trend. Telemedicine had been the focus of a recent study that highlights the benefits of ASD patients connecting to health care specialists through their computer or smartphone.

The University of Iowa did a study to show how parents with children on the autism spectrum could discuss their child’s symptoms with a specialist through the computer.

Telemedicine is not only a more cost-efficient choice for ASD families than in person visits, but it also allows families without easy access to a doctor’s or specialist’s office, like in rural areas.

The study was done by 107 participants with autism spectrum disorder, or other developmental disabilities, between the ages of 21 months to 6 years, who were diagnosed and treated between 1996 and 2014. Fifty-two children were treated by a consultant in their home between 1996 and 2009, and twenty-three  participants who were treated between 2009 and 2012 were examined using telehealth at a clinic. The remaining thirty-two children, treated between 2012 and 2014, used functional communication training, referring to telehealth coaching at their house.

The researchers were able to conclude that the parents using telehealth were efficiently trained in ABA procedures, applied behavior analysis, and were able to pass their knowledge on to other family and friends. This is due to the fact that the child was comfortable in their home and where their symptoms were most potent.

The study was led by Scott Lindgren, Ph.D., professor of pediatrics in the Stead Family Department of Pediatrics at University of Iowa Carver College of Medicine, and he emphasized why telehealth was so vital to the future of ASD.

There are a limited number of professionals with the training and expertise needed to work with these children, which means a lot of families can’t get access to the services they need,” Lindgren says. “That’s the situation we have in Iowa.”

 

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For more information, visit the source for this blog post, Science Daily.

Written by Nichole Caropolo

Posted in Autism News, Autism News | Comments closed

SHANK3 Plays Larger Role in ASD Than Assumed

shank3
SHANK3 is a mutated gene that is linked to autism, and researchers are continuously discovering their structure and role in the disorder. A recent study found a new role that the neurons play.

The SHANK3 is meant to support synapses structure, which allow neuron communication. “Synaptopathy,” neuron signal defects, is what links the mutated gene to autism. The study focused on how the neurons without the gene don’t have correctly functioning ion channels in their outer membranes, which can translate to issues regulating the excitement of the neurons.

The lead study investigator was Thomas Südhof, professor of molecular and cellular physiology at Stanford University in California. He discussed how the study proved nothing is for certain in research.

“You can’t just assume that a gene that encodes a protein which is synaptic will necessarily cause a synaptic deficit, and only a synaptic deficit,” said Südhof.

The neurons with fewer synapses meant that it had weaker electrical messages, but this was resolved with a SHANK3 gene. This reassured the scientists that SHANK3 was needed for synapse function.

The study was done by creating human embryonic stem cells, which had copies of defective SHANK3 cells. Then they manipulated the stem cells into neurons by engineering them to express a specific gene. This resulted in a small amount of neuronal branches that retrieve signals at synapses, called dendrites, when compared to controls.

The team also measured the neurons excitability by examining the current flow in different ion channels, which are binded by the SHANK3 in cultured kidney cells. They also cause channel blocks with chemicals in control neurons that indicates SHANK3 loss. They concluded that without the SHANK3 gene, the HCN channels can’t function properly.

These conclusions support evidence from a 2013 study, which gave the researchers an idea that the SHANK3 had more pull in the neurons than influencing synapses.

For more information, visit the source for this blog post, Spectrum News.

Written by Nichole Caropolo

Posted in Autism News, Autism News | Comments closed

ASD Overlapping Pathways Found

imagesHCVCZHPYGene mutations are the foundation of autism, and scientists are continuously examining the structure and actions of the genes. A new study shed light on the pathways of the genes that contribute to ASD.

At the Massachusetts General Hospital, investigators were able to identify biological processes with hundreds of genes that can contribute to the risk of autism. While it was originally assumed that only a few specific genes could lead to ASD, thousands were determined and documented in public databases, where the investigators took data for the study. Using the Simons Foundation Autism Research Initiative Gene Database, the hospital crew found over 650 genes that related to ASD. This data led them to find two important signaling pathways that intersect.

The MAP kinase and the calcium signaling pathways were the main overlapping pathways that stood out among other metabolic and neutral pathways. These play biological roles in cellular activities.

The lead study author was Ya Wen, PHD, a researcher in the Department of Neurology at MGH and MassGeneral Hospital for Children.

“Many present treatments attempt to control or reduce particular symptoms of autism, but this study suggests that targeting core biological processes may be a more efficient strategy,” says Wen. “Addressing a core process that generates a spectrum of symptoms may give you a shot at affecting all of those symptoms at ones. This is just a first step along what we hope will be a path to better care, but it is an important one.”

“Our pathway network analysis is the first bioinformatics study in autism to connect the dots of brain and body — of autism and accompanying medical conditions, of autism and vulnerability to environmental stress — in one investigation,” Wen added.

For more information, check out the source for this blog post, Science Daily.

Written By Nichole Caropolo

Posted in Autism News, Autism News | Comments closed

Pregnancy Gaps Are Associated to ASD

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Many people believe that being a mother is the hardest, yet rewarding, job in the world. For people that want large families, is there any risk? A recent study shed light on how close pregnancies is associated with ASD.

The researchers concluded that small time gaps between pregnancies could increase the chances of the offspring having autism. It also goes the opposite way, in the fact that long times between pregnancies also can raise the possibility of ASD.

The conclusions were drawn from previous research surrounding 1.1 million children from seven studies showing a possible connection between birth gaps and autism. These studies also mentioned a connection between the pregnancy spacing and Aspergers, as well as pervasive development disorder.

Dr. Agustin Conde-Agudelo, a researcher at the World Health Organization Collaborating Center in Human Reproduction at the University of Valle in Cali, Colombia, lead the study and gave his perspective on the proper pregnancy gap, between too close together and too far apart.

“Based on the current best available evidence, it appears that the ideal interpregnancy interval — the time elapsed between the birth of the immediate older sibling and the conception of the younger sibling — is 2 to 5 years, in order to reduce the risk of autism,” said Conde-Agudelo.

The connection between autism and close pregnancies could be due to low B folic acid in the mother, which is needed for fetuses to properly develop their brain and spinal cord.

Longer gaps between pregnancies could increase the chance of autism due to infertility, maternal inflammation levels, and unplanned pregnancies.

The researchers stress that shorter, or longer, pregnancy gaps don’t alone cause ASD, but that it can influence the possibility.

 

For more information, check out the source for this blog post, CBS News

Written By Nicole Caropolo

Posted in Autism News, Autism News | Comments closed