Autistic Siblings Not Necessarily Similar

Nature Medicine - siblings studyIn a recent report published by Nature Medicine, scientists have found that most siblings with autism do not share the same genetic risk factors and are as distinct in their behaviors as any brothers and sisters – which is a surprise to many.

As discussed in this New York Times article, scientists analyzed genetic material from 85 families using an approach called whole-genome sequencing. And they found that 30% of the 85 sibling pairs in the study shared the same mutation, while about 70% did not.

By having different mutations, this means that the impact, and symptoms, of autism can vary greatly, even among with closest of relatives. (One family is discussed in the NYT article as an example – two brothers sharing an autism diagnosis, one will approach strangers, the other is much more shy; one loves computers, the other doesn’t; one brother is continuously on the move, while the other usually parks himself in the same place.)

The saying of “if you know one person with autism, then you know one person with autism” really holds true, even when it comes to individual families.

Read more about the study here.

Lynsey, Community Manager 

Top 5 From 2014

2014Hello 2015! Yes, the new year is now here and underway, but before we officially say goodbye to 2014, let’s take a look at some of the more prominent news and stories from the past year:

  1. 1 in 68 – Autism rates continue to increase. The Center for Disease Control reported that the number of U.S. children with autism soared to 1 in 68 – a 30% increase from its last report two years prior. Still without a confirmed known cause, or causes, the reason for this increase can’t be determined, although growing awareness and better identification of autism in children may be playing a part in that increase.
  2. Jerry Seinfeld thinks he’s autistic…but then doesn’t. Probably one of the most buzzed-about stories this year was when comedian Jerry Seinfeld — during an interview with NBC News’s Brian William — said that he thought he might be on the autism spectrum. Although he later took that claim back, his self-diagnosis was met with both support and criticism.
  3. Amazing Acts of Kindness.  Helping someone – an easy thing to do, and something that could profoundly impact someone. These types of stories are always our favorite, and we hope there are plenty of them in 2015. Check out a couple from last year such as William’s Mail and Lunch Buddies.
  4. Athletic Super Stars. We saw some truly incredible athleticism this year – and met some amazing kids celebrating remarkable achievements. We heard about Jason “J-Mac” McElwain who ran the Boston marathon in under three hours, as well as Mike Brannigan, who is one of the top 10 high school runners in the U.S., and Josh Bailey, who is a star member of his high school football team.
  5. Learning More.  It was another year full of new information and studies. It seems like a new study comes out almost every day. There was, for example, the one that showed environment is just as important as genes in looking at how autism runs in families; or, the study that show children with autism may have an overload of brain connections. All of this research and discovery is so important maybe we’re getting closer to understanding this complex condition. We hope continued research, awareness and, above all else, compassion remains prominent in the year ahead.

We wish you all a very happy New Year!

 

 

Inflammation in Brain Linked to Autism

Maybe a little closer to understanding a bit more about autism…a new study published in Nature Communications is showing that the brains of people with autism share a common pattern of inflammation related to an overactive immune response.

As discussed in this article, researchers from Johns Hopkins and University of Alabama at Birmingham analyzed the data from autopsied brains of 72 people – 32 of whom had autism – and of those that had autism, they found genes for inflammation permanently activated in certain cells. This was the largest ever study of gene expression in autism.

The inflammation is not likely a root cause of autism, but possibly a consequence of a gene mutation. In order to better understand the inflammation’s effects, researchers will need to determine whether treating it will make an impact on symptoms.

As one of the researchers involved in the study points out, the current findings highlights how much we don’t know about the way our immune systems affect brain activity.

 

Lynsey, Community Manager 

100+ Genes Tied to Autism (New Study)

cover_natureSome new research that came out is getting a lot of attention. As we are still without a known cause of autism, this particular research could potentially prove to be a step closer to having a better understanding of what may cause autism.

Two studies were published in Nature that showed dozens of sets of genes are closely connected to the development of autism. As discussed in this article, the research claims that 60 genes are within a ‘high-confidence” threshold—meaning that mutations in those genes are 90% likely to increase the risk of autism. (Previously only 11 genes had been identified with the ‘high-confidence’ threshold.)

It went on to show that these genes appear to be clustering around three sets of biological functions—(1) the development of synapses (which are responsible for communication among nerves); (2) the creation of genetic instructions; and, (3) DNA packaging within cells.

With environmental factors being a possible theory of what may cause autism, this research may now steer scientists more toward genetics.

As with any new research and findings, more investigation is needed – but their initial discovery is very compelling.

Read more about this study here.

Lynsey, Community Manager

Kids with Autism May Have Overload of Brain Connections (Study)

brain synapsesA new study, which is getting a lot of attention, is showing that children with autism may have an oversupply of synapses – which are the connections that allow neurons to send a receive signals –in their brains. With this excess amount of synapses, different brain areas can be affected and overloaded with stimuli. And having such an overload could account for symptoms like extreme sensitivity to noise or social challenges.

This information could help researchers and doctors identify a key cause of autism symptoms – which is good news for a potential treatment. But this would be long down the road – researchers were able to create a similar overloading of synapses among mice and used a drug called rapamycin, which worked well to improve, if not eliminate symptoms, however this drug comes with heavy side effects. But this is an exciting discovery and one that will hopefully be further explored.

Check out this NY Times article for a good breakdown on the study.

Lynsey, Community Manager

Autism Develops in Womb (New Study)

Nejm_logo2011According to new research findings reported in the New England Journal of Medicine, autism begins when certain brain cells fail to properly mature within the womb. The researchers looked at post-mortem brain tissue taken from those with and without autism, and found that those diagnosed with autism missed key genetic markets for brain cells that are supposed to develop before birth.

The benefit of these findings is that doctors may be able to one day provide a way to diagnose autism earlier, and therefore allowing for earlier treatment and therapy. Still unknown, though, is what triggers these brain-cell disruptions—although it could be factors such as genetics and/or environment.

Read more about this study here on Bloomberg.

Lynsey, Community Manager

Autism Rate Rises to 1 in 68

1in68The CDC now reports that the number of U.S. children with autism has soared to 1 in 68 – this is a 30% increase since it had estimated that 1 in 88 children have the disorder only two years ago.

To get this estimate, they looked at records in 2010 for 8-year-olds in 11 states. Through their research they also saw an increase in the number of children with higher IQs who fall on the autism spectrum – and a wide range of results depending on where they live (for example, only 1 in 175 was diagnosed with autism in Alabama, while 1 in 45 was diagnosed in New Jersey).

Why the big jump? No one can say for sure, but it could be due the growing awareness of autism and better identification of it in children.

And, also eye-opening, as noted in this NPR article, a 2011 study found that in South Korea, 1 in 38 children met the criteria for autism – and the U.S. is now on pace to reach the same conclusion within a few years.

Lynsey, Community Manager

Trouble Linking Sights and Sounds (New Study)

We may now have a little more insight as to what may be a cause of speech and language difficulties often seen with those who have autism. As researchers from the Vanderbilt Brain Institute have discovered, as covered here, for children with autism, sight and sound may be separated because their brains have trouble linking what they see with what they hear. The effect is described as if you are watching a foreign movie that was badly dubbed – the auditory doesn’t match up with the visual.

Vanderbilt

This processing “lag time” could explain why learning language can be difficult. As the article explains, if a parent points at a dog while saying “dog,” yet by the time the child hears the word and connects the parent’s pointing action, the dog may have jumped off the chair and the child instead looks at a chair – then connecting the word “dog” to a chair.

Researchers are still in the early phases of their learning, but it may help open up ways to improve language capabilities in autistic children. For example, parents and therapists may find that pausing often when speaking – allowing the child to have the time to process what they’re hearing – is very beneficial (…and this is something you may have already found out yourself regardless of such research).

Hopefully all of this leading us to a better understanding of this often baffling disorder – providing us with another piece of the puzzle.

Lynsey, Community Manger