Groundbreaking Study of Autism Disorders in Monkey Models

monkey
Pinpointing the root of autism development has been a challenge for researchers, as multiple genes and environmental factors all play a role. Furthermore, the majority of brain research is conducted in rodents, who do not mimic the complexity of brain disorders found in humans. Recently, a team of researchers in China have launched a ground-breaking study to observe autism behaviors in monkeys.

The team introduced a human gene called MECP2 in the genome of macaques (a type of monkey), causing them to display behavior symptoms similar to those found in children with MeCP2 duplication syndrome, which produces autistic-like behaviors. These behaviors include limited social interaction and repetitive motions. Furthermore, the research team found that the monkeys were able to pass the gene and symptoms along to their offspring.

Although this study offers a new insight for researchers, it is still debatable if it is effective to use primates to study human brain disorders. Many children with the duplication syndrome meet the formal criteria for autism diagnosis, but also tend to have symptoms that are atypical of autism.

Although researchers are debating this study worldwide, the team of scientists who produced the monkeys are more optimistic. Zilong Qiu, neuroscientist at the Chinese Academy of Sciences in Beijing and co-author of the study states, “[they] are the first primate models of autism. I’m thrilled by the possibility that we may be able to reverse the genetic causes in the transgenic autism monkey model.”

MeCP2 duplication syndrome occurs in humans when there are extra copies of those specific genes. To replicate the syndrome, the research team genetically modified monkey embryos by introducing the gene to the monkey’s DNA. Next, they implanted over 50 embryos into 18 monkeys, with eight baby monkeys being born as a result. The monkeys each displayed symptoms common to children with the duplication syndrome, including anxiety and deficits in social interactions with the other monkeys.

Qiu and his team are now using brain imaging technology to identify the brain circuits that play a role in the monkeys’ autistic behaviors. If they can properly identify the areas affected, they may be able to lead developments that target these areas for treatment. Alysson Muotri, human brain development researcher at the University of California-San Diego states, “[The monkey models] aren’t perfect, but they could be better than mice designed to replicate the syndrome.” She continues, “At least the [monkeys] could mimic autism-like behaviors.”

Sources:
http://www.wsj.com/articles/chinese-scientists-created-monkeys-carrying-autism-related-gene-1453737600

http://www.theverge.com/2016/1/25/10826438/genetically-modified-monkeys-that-display-autism-like-behaviors-could

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Kefir and Best days of our lives!

As promised before, I wanted to share results of our little experiment that we’ve started not too long ago.

Knowing Jake has very sensitive digestive system, we decided to give it a go with natural organic KEFIR (click on this link to read more about kefir). We all know how beneficial fermented foods are for our bellies. Well, we tried sauerkraut last year (and he was eating it every day till my surgery, which broke the routine and we never fully got back to it!). We had ups and downs, feeling like there have been way more downs than ups recently, but then we were reminded – IT’S ALL IN THE GUT!

Our immune system starts in our gut! The better our digestive system functions, the healthier we are. So we tried kefir :) I am giving it to Booboo (Jake’s nickname) with a syringe (like a medicine) because he will accept anything that’s “odd” as long as I label it “MEDICINE”. So there you go! I’m sure you can find your own way to give this stuff to your picky eaters. Start with small doses – adding kefir to mashed potatoes or soups, sauces etc… or if they like yogurts, add some there. Make sure you don’t heat or cook it, because then all trillions of good bacteria will be killed!

School year has been pretty good so far. Jake had a few “bad” days but in general I believe he’s improving drastically. The other day, he grabbed his homework notepad and brought it to me, asking to do his homework with my supervision – it’s amazing! And he seems to be more interested in drawing again (which used to be his favorite thing in the whole world!). He’s keeping eye contact for longer and tries to verbalize his desires more, as well as using PECS and sentence strips correctly! I’m truly amazed!

And we DANCED for the longest time, just me and my boy – laughing, hugging and crying (OK, just me crying part because I am a softy, shhh)

Our church family prayed for us and especially our handsome dude – crying, fasting, pleading with God to help him. I tell you what! It works! Us, as parents can get really down sometimes and feel like our prayers don’t go anywhere. It’s good to ask other believers to pray! I heard someone saying one day: “Even if you don’t believe in God or power of prayer, go to some Bible believing church and ask people there to put your autistic child on their prayer list, and pray for him/ her until you get your prayers answered. ‘Cause prayer of the faithful avails a lot!”

I am going a bit crazy with making photo albums these days – reminiscing the good times…

So here’s a song I love “Best day of my life” by American Authors, accompanied by the photographs of THE BEST DAYS OF OUR LIVES :) Enjoy!

Love you all dearly and pray God will grant the desires of your hearts.

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The Impact of Motor Skills on Symptoms of ASD

(Photo: badgerherald.com)

(Photo: badgerherald.com)

A study was recently launched in Wisconsin to observe how improving motor skills may help improve the symptoms of autism disorders. Researchers at the Waisman Center at the University of Wisconsin-Madison are currently studying how technological developments can aid children with ASD.

Brittany Travers, professor of occupational therapy in the Department of Kinesiology at Wisconsin-Madison has utilized video games in particular to observe how they may affect behavior and motor skills.

One of her participants, Xavier, a 9-year old on the spectrum, takes part in the study by playing on the Wii, a popular video game console. Travers utilizes programs that incorporate the console’s balance board, using it to capture motor and postural data.

Initially, the children partake in a rudimentary game, where they select a yoga or martial arts pose to imitate on the board. A silhouette of the child’s body appears on the screen in the game, which also showcases the outline of the proper position. Dots on the screen turn from red to yellow when the silhouette matches the displayed pose. These dots align to 16 points on the body, and data is collected from every 50 milliseconds.

In between poses, the child gets to pick real Wii games to play. Little do the children know, these games also improve balance and stability as they rely on specific body movements to play the game well. For example, Xavier selected “Ski Jump” and “Penguin Slide”, programs that require precise motor skills to succeed in them.

Xavier has been a part of this study for over six weeks, coming to the lab three days a week. He uses the balance board for an hour each time, with Travers and her team studying his motor abilities and assessing his autistic symptoms, such as showcasing repetitive behaviors, and ability to express himself.

Travers repeats her assessments of each child to measure change. She takes brain scans of each of her participants before and after the balance training, to see if any structural changes took place. Currently, professionals and caregivers are split in the debate that motor impairments may lead to social inabilities (with others believing it is the other way around). With further research, Travers will be able to publish findings that can potentially provide an answer.

Travers is hopeful about her work, stating, “Motor skills are highly predictive of independent living skills in people with autism.” She continues, “Even in the worst case scenario, if we can change balance, we can actually help with some of these independent living skills.”

Source: http://www.sciencedaily.com/releases/2016/01/160121155511.htm

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A Cat’s Magical Paw

Sitting home alone, enjoying the last day of “no work”… Our two black cats snuggled together, right next to my super hyper Labrador. I still don’t know if I’m more of a dog or a cat person. Love them all but they are so different!

Ever since I was born we always had a dog, so naturally I thought I was a Canis Familiaris kind a person. It changed when I moved to University and lived alone in a small studio, away from my family and Kama – the sweetest dog ever. One day, a dear friend of mine, who undoubtedly noticed my homesickness, decided to “help” by surprising me with a female cat! I had no clue what to do with her. All my life I was told cats are odd and they don’t listen to commands; unlike dogs, whose life mission is to serve their master, responding to every single whistle. But I immediately fell in love with my Felis Catus. She was absolutely amazing – entertaining, graceful, loving… Until she hit “puberty” and was meowing 24/7, driving my neighbors and myself absolute bonkers! It was pre-Facebook era, so they couldn’t share those “angry neighbor” stories with the entire world. My door, on the other hand, got a lot of knocks!  Life was so much easier before “social media” revolution, wasn’t it?

Animals are very sensitive therapists. But I could not choose between cats and dogs. They offer completely different “treatments”. We always wanted a pet for our kids, but were afraid of the commitment and cost involved. After many discussions and scientific arguments, we agreed to adopt a cat. Our friend’s cat had several kittens, so I convinced my husband to take two. Of course I was just trying to spare them the trauma from being separated from the “herd”. Plus they were really cute! A few days later my doctor’s assistant called and said she had found a perfect puppy for our Jacob – because everyone knows that Labradors are the best Autism therapy dogs, right? We drove across the island to see her! Little Bonnie, looking so beautiful, won our hearts immediately. Overnight we became a family of seven!

I thought it would be just like in the “feel good” movies, where the dog sleeps by kid’s feet till 7am and waits patiently to be walked and fed. Ha! And let me say that again – HA! Barking, chewing everything, using our carpets as her private toilet, etc… Don’t get me started on cats! Neurotic fluff balls, scratching every couch and rougher surface around the house! But you know what? I can’t imagine our lives without them. Kids bonded with our “demolition crew” right away. They’re still learning gentleness and tranquility from the cats; and getting extra energy out by being chased by Bonnie. She’s not trained to be our boy’s guardian but she’s a natural, although definitely ADHD. But cats are autistic, so it’s all good!

I wouldn’t change our Seventh Heaven for the world!

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Newly Discovered Gene May Be Linked to ASD

autism-cause-1
Researchers may have linked a particular gene to the development of autism and other neurological disorders. A team at the Children’s Hospital of Philadelphia have pinpointed that variations in the RANBP1 gene may disrupt brain signaling. This finding can potentially pave the way for scientists to develop treatments targeting this gene.

Dr. Hakon Hakonarson, Director of the Center for Applied Genomics at the hospital and member of the Icare Advisory Committee, states, “The gene we investigated may function as an important factor, not only in forms of autism, but also in other neuropsychiatric conditions.” He continues, “We have uncovered underlying molecular defects across disease categories, suggesting that these biological networks are good targets for future research.”

For the study, Dr. Hakonarson and his team analyzed DNA sequences of over 500 children with autism disorders, comparing them with the DNA sequences of 75 children with 22q11.2 deletion syndrome, a disorder caused by defects in the 22nd chromosome. The team looked for copy number variations, or CNVs, within a particular gene network: the metabotropic glutamate receptor (mGluR) pathway.

According to previous studies conducted by this team, genes on the mGluR network were highly likely to be disturbed in individuals with ASD. The recently conducted study showcased that 74% of the children with CNVs in the mGluR network also had the prevalence of the syndromic subtype of ASD.

Furthermore, disturbances in this gene family have also been known to affect individuals with schizophrenia and ADHD. By studying 75 children with 22q11.2 deletion syndrome, the team discovered that the deleted region contains the mGluR network with gene RANBP1.

Dr. Hakonarson states, “Based on this study, we propose that the RANBP1 gene is a significant genetic factor in both ASD and 22q.11.2 deletion syndrome. When the mGluR network is disrupted at multiple points, it predisposes individuals to a more severe disease.” Further research can potentially highlight how the RANBP1 gene disrupts brain circuitry, and how additional gene variations in the mGluR network can increase the risk of ASD development. Dr. Hakonarson adds, “This could be the basis for one of the first examples of precision medicine focus in drug development for complex disease.”

Source: http://www.genengnews.com/gen-news-highlights/newly-identified-gene-may-link-to-autism-and-other-neuro-disorders/81252259/

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