January 2014

Hopes for an Autism-Detecting Blood Test

Researchers at the JC Self Research Institute of the Greenwood Genetic Center (GGC) have reported an exciting new finding that may allow for earlier diagnosis of individuals with autism spectrum disorders (ASDs), as well as a clearer understanding of the disorder.

Their study found that individuals with ASDs showed significantly decreased metabolism of the amino acid L-tryptophan when compared to normally developing persons, as well as individuals with other neurodevelopmental disorders. Decreased metabolism suggests there is a delay in the processing of this amino acid.

L-tryptophan is an amino acid used by cells to make protein. The body cannot produce L-tryptophan, therefore it must be obtained from the diet. Common sources include chicken, tuna, and turkey. This amino acid plays a significant role in brain development and function. L-tryptophan serves as a critical precursor for several critical neurochemical reactions in the body. For example, L- trpotophan stimulates the release and production of serotonin and melatonin. Abnormalities in the production of serotonin and melatonin have been linked to behavioral and neurodevelopmental problems (Sandyk, 1992).

Researchers also measured the expression of genes known to be involved in metabolizing L-tryptophan. Patients with autism expressed some of these genes at lower levels as well.

Currently, ASD diagnosis depends upon a variety of assessments, including developmental evaluation and parental interviews. The average age of diagnosis is 4.5 years of age, yet symptoms may appear as early as 18 months. No diagnostic blood tests exist to accurately diagnose ASDs.

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Researchers at GGC are hopeful that their finding may lead to the development of an earlier blood-screening test for autism. A blood test that identifies low levels of L-tryptophan may allow doctors to identify metabolic deficits in the brain. In other words, the test would examine the gene’s expression in attempt to distinguish between children with and without ASDs.

SynapDx, a laboratory services company, is funding the study in hopes of developing and marketing the blood test. SynapDx completed a study in 2012 using an in-house developed blood test as a means of autism diagnosis. The study blindly compared 170 children with ASDs and 115 without. The blood test correctly identified the children two-thirds of the time. This trial’s success has led the company to continue conducting further studies in hopes of validating the development.

The release of a screening test could validate doctors’ clinical evaluations and diagnosis of ASDs. While a blood test may not offer sufficient evidence to diagnose ASD independently, it will certainly decrease the amount of time of needed to confirm a diagnosis. Using a clinically significant blood test in conjunction with patient evaluations will increase the validity and objective nature of a diagnosis.

An earlier diagnosis will allow for more effective and timely therapies for affected children and families. Speeding up the diagnostic process will grant families access to treatments earlier, allowing for better results. The National Institute of Health has granted additional funding to GGC’s autism research in hopes of turning this recent finding into a simple blood test for autism.

In addition, this information helps researchers to better understand a possible biochemical mechanism behind ASDs. These findings provide evidence that the disorder may be related to the metabolic pathways involving L-tryptophan. This finding allows will researchers to further focus on the exact point that the disruption is occurring.

Important discoveries such as these bring research organizations one step closer to improved ASD diagnosis and therapy. To read more about this study, click here.

Because clinical and neurobiological research is constantly advancing, staying up to speed with groundbreaking research can be extremely overwhelming for families. However, The Autism Research Foundation (TARF) believes staying informed is key to promoting awareness and a better understanding of autism. TARF hopes to assist you in keeping up with the latest research by updating this blog on a regular basis, as well as hosting the Current Trends in Autism Research Conference.

Citations:

Boccuto, Luigi, Chin-Fu Chen, Ayla Pittman, Cindy Skinner, Heather McCartney, Kelly Jones, Barry Bochner, Roger Stevenson, and Charles Schwartz. “Decreased Tryptophan Metabolism in Patients with Autism Spectrum Disorders.” Molecular Autism 16 (2013): 4-16.

Greenwood Genetic Center. Advancement Paves Way for Early Blood Test and Therapeutic OptionsGreenwood Genetics – GGC Reports Autism Discovery. 5 June 2013. Web.

Sandyk, R. “L-tryptophan in Neuropsychiatric Disorders: A Review.” International Journal of Neuroscience (1992): 127-44.

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Life Lessons from Emma and Olivia

I was sitting in my English class senior year of high school wondering what I could possibly write about. College essay? What does that even mean? What do they want me to talk about, myself? Everyone told me that I had it easy because I can write about my sisters because they have autism. I figured they were right, leading me to leaving my essay to the last minute (as per usual), thinking I was going to be able to breeze right through it because of course, I had so much to write about.

As I sat down that night to write the easiest essay of my life, I suddenly began to panic. I had absolutely nothing! How could it be that I had nothing to write about? When I say nothing, I mean less than what I thought was nothing when I went to write about Lord of the Flies. And that was a bad essay.

I sat there for what felt like hours trying to figure out what the heck was going on. I played around with many ideas; maybe I just didn’t want to go to college or maybe it was the fact that my teacher was so annoying she made me want to hide under my bed every morning. I even asked my parents why I couldn’t figure this out and they told me that I just needed to think about it, that I’ve learned so much from my sisters and that there is going to be plenty to write about. It would come to me. I figured this was true, and took a couple days to think on it and took the hit on the late deductions.

Well those days went by fast and I was still thinking. I had come up with a few ideas but they all felt forced, as if I had only read the Spark Notes on the book of my own life. I went on to write my essay about what I thought was what I had learned from Emma and Olivia. It hasn’t been until recent years that I realized that I wasn’t trying to avoid college or my teacher, having nothing to write about was absolutely the case. I hadn’t learned anything from Emma and Olivia, and I never have.

I can’t remember my life without my sisters since I was only two when they were born. Everything I am comes from them. All aspects of my life surround them. I’ve never directly learned anything because there isn’t anything I do that isn’t influenced by my sisters. I eat healthy because I want to be able to keep them healthy and be around for them into late life. I major in psychology because I want my life to have its purpose in finding ways to better theirs and many others lives. I stayed forty minutes from home to go to school because I can’t be away from them for too long without feeling like I’m missing something.

I know this isn’t the case for everyone. Some people haven’t always had his or her sibling around since birth, and there are many amazing things that come with that. Maybe I would have had some serious life lesson business to talk about in my college essay if that was my case. But for me, it’s not like that. For me, I almost feel like I have a sixth sense. Like I was born with something that most others aren’t. It’s not something I can describe, but if you have a similar situation, you know exactly what I mean.

Needless to say, my college essay wasn’t exactly as deep and thoughtful as my previous words. In high school, my brain just didn’t work that way. I didn’t know then that what I felt was my lack of motivation was the pure fact that I haven’t learned from my sisters, I’ve lived through them.

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Monkey Business

During my time as a summer camp counselor working with children on the spectrum, we took a field trip to the local zoo. I stepped away from the group to take one of the younger girls in the group to the restroom. Once we got there, this young girl noticed an older, African-American janitor cleaning outside the door. She pointed at the janitor and asked very loudly, “Why is she so dirty?”

I am not sure if my camper had never seen an African-American woman before, or if she simply forgot, but regardless it was very “au-kward” and the woman was blatantly offended.

I ushered my camper into the stall and rushed out to apologize and speak with this woman. Before she could start yelling at me about the comment, I quickly began explaining that the girl was on the autism spectrum. Since the woman was unfamiliar with autism, she claimed I was making up excuses for the girl’s lack of manners. I gave her a brief lesson on Autism 101 and explained that many children with autism often have a difficult time understanding what may or may not be socially appropriate. You can read more about this here.

Eventually, the woman softened and appreciated my explanation. My camper came out of the restroom and apologized. The situation may have been pretty “au-kward” at first, but it ended well and the woman from the zoo learned something new about autism that day.

— Lindsay Rosen

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Fundraising That Helps Your Autism Programs, Too!

Beads for a Cause™ designs quality, cause-conscious jewelry that represent charities that are most meaningful to you. Beads like this “I See You” design symbolize a person’s commitment to autism awareness, research, education and inclusion, while a percentage of sales goes directly toward those efforts by The Autism Research Foundation. Use this bead to fundraise for your autism programming, too!

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Moving Forward by Looking Back

As our inclusion program Athletes 4 Autism gears up for an exciting 2014, I decided to take a look back at one of the first A4A events that I myself experienced firsthand. I will never forget the feeling of overwhelming pride I had not only for my school, but also for this organization. As you will read, the power of a smile really does go a long way. 

– Kelly

Looking Back: How the Power of a Smile Transformed “Spectators” to “Athletes”

On Sunday, April 15, 2012, the basketball court in Boston University’s Case Athletic Center buzzed with excitement, as smiles danced across the faces of student-athletes and children alike. Athletes 4 Autism (A4A), the flagship inclusion program of TARF, had teamed up with Boston University to participate in a school-wide community service initiative. This Global Day of service event was designed with multiple goals in mind: to introduce families to the organization and to give Boston University athletes a chance to participate in a fun-filled charitable event. At this family-friendly day, A4A was out to prove that “life isn’t a spectator sport.”

The afternoon featured skill stations run by volunteers and athletes from various Terrier teams. Families and volunteers witnessed what some people would consider a “disabled” child succeed at what a “neurotypical” child can struggle with on a daily basis: conquering uncomfortable social situations. With the goal of bringing everyone together in friendship through sport, areas including “soccer shots” and “ fastest pitch” allowed participants to meet potential “mentors” while learning about what sports were offered through the program. Participants could play at a challenge course with members of the women’s lacrosse team, shoot some hoops with the basketball team, or even score a few goals on the nationally ranked men’s ice hockey team.

Perhaps the most rewarding part of the afternoon was witnessing student-athletes connect with the children and their families. It was easy to find volunteers striving to make sure everyone felt comfortable at the event. I watched as Sydney Godett, a member of the women’s lacrosse team, reached out to an uneasy little boy named John who was desperately clinging to his father. Unlike the rest of the happy attendees, John was not smiling. In a matter of minutes, Sydney made him feel comfortable in this strange environment by offering a warm smile and a helping hand.

SydneyandJohn

Soon enough, they were facing off in the challenge course, not a shred of anxiety apparent on John’s exuberant face. Suddenly John beat Sydney to the finish line, a moment so pure and so full of joy that it brought a smile to everyone watching the race. “We were told not to be alarmed or offended if the children didn’t respond right away,” said Godett. Luckily for both Sydney and John, a lack of connection did not exist; in fact, they seemed to be quite a team.

Because A4A is open to children both on and off the autistic spectrum, there was a strong mix of families with children both on and off the spectrum, showing that children of every capability can successfully coexist when it comes to athletics. Cathy Mealey, the mother of both a child with autism (Liam) and a child without autism (Grace), was thrilled when she learned about A4A’s open event. “We make an effort to take Liam into the community as much as possible, and we try to find ways to get both him and Grace involved together.” Mealey believes that the key to Liam’s success is “all about finding the right partnerships and the right niche.” She notes that her son “has always been drawn to sports,” so this event was a perfect match for Liam.

As A4A’s Global Day of Service event came to a close, John stood at half court, asking members of the Men’s Ice Hockey team to play some basketball with him. In his eyes, these boys were not the star athletes of the Boston University community. He simply saw Wade Megan, Sean Escobedo, and Ryan Ruikka as big friends for him to play with. In one afternoon, John transformed from a “spectator” to an “athlete.” Little did he know, he was not the only one smiling now.

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Measles Surge in Britain after Autism Related Vaccine Scare

Last year, the United Kingdom had a record breaking 2,000 cases of measles. The U.K. has already reported more than 1,200 cases in 2013 thus far. The country now ranks second in Europe for the highest occurrence of this contagious disease, falling only behind Romania. This is a dangerous, life-threatening sickness that can easily be eliminated with proper preventative care. Researchers believe these numbers can be attributed to a decrease in the number of parents choosing to vaccine their children, representing a great medical setback.

Doctors believe unfounded fear of vaccines, spurred by Andrew Wakefield’s un-scientific 1998 publication, to be the cause of this measles outbreak in the United Kingdom. Wakefield’s highly flawed findings suggested a causal relationship between the childhood vaccine “MMR” and autism. The MMR vaccine is an immunization vaccine responsible for protection against Measles, Mumps, and Rubella. Parents of over one million children in Britain refused to vaccinate their child with the MMR vaccine in fear of increasing their child’s risk for autism.

Since that time, it is imperative to note that Wakefield’s findings have been rejected by numerous major medical groups and the paper was eventually retracted. The MMR vaccine — distributed to hundreds of millions of people globally — has a proven record of safety. The General Medican Council applied it’s most severe sanction to the case and banned Wakefield from continuing to practice medicine. Despite substantial objections to this outdated research, his work leaves behind a legacy of the “Wakefield scare.” And still, over a decade later, many parents remain fearful of the MMR vaccine’s potential effects.

MMR vaccine

Concerned health officials are trying to stop this epidemic by opening emergency vaccination clinics throughout Britain. The majority of diagnosed individuals are older children and teens who were never vaccinated. Officials hope to reach 1 million children aged 10 to 16 with these emergency clinics.

The first measles vaccine –introduced in the 1960′s — has drastically reduced the number of measles cases in children. By 2001, measles deaths dropped by 70 percent worldwide. However, the disease remains one of the leading causes of death in children under age 5, killing more than 150,000 people every year. This contagious disease is most common in developing countries. It is spread by coughing, sneezing, and close contact with infected people. Symptoms include fever, cough, and a rash on the face.

Britain’s Department of Health strongly advises parents to immunize their children. However, unlike many states in the United States, children in the U.K. are not required to receive proper vaccinations before beginning school. The measles vaccination rate in the U.S. remains above 90 percent, with only 55 reported cases last year.

The “Wakefield scare” may continue to have a detrimental effect on the health of children and teens in the U.K. until MMR rumors are abandoned. Fortunately, a trend away from the rumors seems to be occurring as currently 90 percent of children under 5 in the U.K. have received the necessary vaccines. However, vaccination is below 50 percent for children aged 10 to 16 in some regions. Hopefully the emergency vaccination clinics can address this gap and British health officials will continue to encourage the dismissal of any remaining MMR rumors.

So how can you help? Do your part to ensure your child’s health safety and stay informed on the latest research regarding important vaccinations! Share this post on your social media by using the buttons on the top and bottom of this page. And, of course, consult with your child’s physicians to learn of all the associated with the MMRE vaccine.

To learn more about this story, visit this site.

Citations:

Associated Press. “Measles Surge in Britain Years after Vaccine/autism Scare.” Fox News. FOX News Network, 20 May 2013. Web.

John Burns. “British Medical Council Bars Doctor Who Linked Vaccine with Autism.” The New York Times (2010). at <http://www.nytimes.com/2010/05/25/health/policy/25autism.html?_r=0>

Godlee F ,Smith J ,Marcovitch H. Wakefield’s article linking MMR vaccine and autism was fraudulent. BMJ 2011;342:c7452

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When People Turn into Monsters

Since I first figured out that my sisters were different, I knew that there would be times when other, typical kids wouldn’t understand. I feel extremely lucky that my parents explained to me on multiple occasions how to deal with the hurt that comes from the teasing and bullying of Emma and Olivia from their peers, even strangers.

Even though I had this ingrained in my head, it still came as a shock to me when grown adults had the audacity to say something mean, not just rude, about or to my sisters. It would hurt to the point where I would cry to my parents because I didn’t say something, and felt like I wasn’t doing the right thing for my sisters. There was one particular situation that will always stick with me for the rest of my life.

When I was in high school, I drove my neighbor Hanna* to school when I got my license. She was much younger than me, so she enjoyed being able to talk about all sorts of things before we got to school. She was just out of middle school and loved my sisters. She had been in the same middle school with them for a few years after I was. One day (I don’t remember how), we got on the topic of how I felt when Emma and Olivia were teased.

She started telling me about one day when she was in Spanish class with Ms. Torres*. Ms. Torres was one of the meanest teachers I had ever had in my entire life. She not only told people in my class personal information about my life, but also made me cry when I told her about it in privacy.

Hanna began telling me that on this day, my sisters were being wheeled in their chairs down the hallway by their aids, and were repeating something they had heard in a movie or on YouTube. Whatever the girls were repeating, it called for them to be loud. Not ones to be shy, they were yelling whatever it was that they were repeating that day. Hanna was in Ms. Torres’ class down the hall, and when Ms. Torres heard the yells, she jumped, rolled her eyes, and laughed sarcastically with the kids in the class. Hanna also mentioned that she said something along the lines of “Well, that’s annoying.”

Now, maybe some would think, “Okay, she was just trying to avoid the situation or lighten the mood,” but I knew this teacher too well to kid myself. She truly thought that it was annoying, and was not about to explain to the class what the noise was or who it was coming from, because that wasn’t who she was. She was a mean lady, and I knew she didn’t “approve” of my sisters.

Later on that day, I told my mom the story. My mom knew about the times in middle school that this teacher caused me grief, and had to speak to her on multiple occasions. She didn’t have much of a reaction – she kind of just shook it off and that was that. I was so mad! I asked her why she didn’t go down to the school and say something, or even call or email this evil lady! What kind of example is that to all of the other kids in the class?

She told me it didn’t hurt her, and people like Ms. Torres would never hurt her, because she knew that these people probably have just has much hurt in their lives as I was feeling at that moment. How were we supposed to know if she was going through a rough time in her life? How was I to know that she didn’t feel this hurt on a daily basis?

My mom did end up saying something to the guidance counselors and the principal, but didn’t make it her job to go and get angry with Ms. Torres herself. To my mom, she wasn’t worth her time. Administration handled it.

Although not at that moment, I came to realize my mom’s point. Even though I’d still like to go tell off Ms. Torres, I see now that people like her can’t hurt me. I have so much happiness in my life because of Emma and Olivia that no one’s comments or opinions can take any of it away.

* denotes name change

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I Mustache You A Question

mustachegirlsIn college, I worked as a Community Support Worker for a 12-year-old girl on the autism spectrum who had a funny obsession with mustaches. During the holiday season, we went to the mall wearing fake mustaches per her request, and while we stood in line waiting to meet Santa, a young boy in front of us kept turning around to stare at her mustache. To encourage social interaction, I finally said, “Why don’t you tell him about your mustache?” She looked him dead in the eye and said with a completely serious face, “It’s real,” then turned away. The boy looked very confused and did not know what to think of the small 12-year-old girl with a real mustache. I think someone felt a little au-kward!

Written by Grace Bourey, intern at The Autism Research Foundation

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Spotlight on Lumosity: Potential Benefits for Individuals with Disorders such as ASD

If you’ve checked out Apple iTunes Store’s educational gaming category, chances are you’ve heard of Lumosity. Lumosity’s mobile app, downloaded more than 10 million times, is often located at the very top of this educational gaming category. With over 40 million members joining Lumosity.com, this “brain training” program is gaining national popularity.

Lumosity was founded in 2005 by a neuroscience research company based in San Francisco, California. The company created a cognitive training program consisting of roughly 40 games and exercises focusing on the areas of memoryattentionflexibilityspeed of processing, and problem solving.  The games, designed to be both challenging and fun, aim to improve each player’s mental abilities. Creators believe the program’s popularity can be attributed to the fact that the games appeal to learners of all ages.

Games, such as Raindrops, test individual math skills, asking the player to solve a series of math problems before the raindrops hit the ground. Other games may focus on more abstract skills, such as speed or spatial skills. For example, Penguin Pursuit involves steering a penguin through a rotating iceberg maze in a race against other hungry penguin opponents in search of food.

lumosity raindrops

       lumosity penguins

Lumosity’s site features findings of several completed research studies, verifying the cognitive benefits of the program. Lumosity claims their program offers mental benefits by fostering neuroplasticity. Neuroplasticity refers to the brain’s ability to physically change when faced with new challenges. This occurs because different daily tasks require the use of different neural pathways. Neural pathways will grow stronger, or be pruned away, depending on frequency of use. Lumosity provides a variety of new exercises that encourage the brain to develop and strengthen neural pathways. Each game adapts to individual developmental levels to ensure the brain stays challenged.

lumosity brain profileWhen first signing up for Lumosity, members are asked to note the areas they wish to improve upon (such as avoiding distractions, multitasking, or precision). The program then determines your “brain profile” and provides you with a series of puzzles and exercises focused on your individualized training targets.

These priority areas vary based on your developmental level and personal needs. This allows individuals with a potential diagnosis of a disorder, such as autism, to focus on areas they may be experiencing deficits in. Individuals, both with disorders and without, can take advantage of this game by thoughtfully identifying cognitive areas needing improvement. For example, training targets for an individual with autism may include social cognition, theory of mind, executive functions, and central coherence.

Social cognition refers to the processing of social information (encoding, storing, retrieving, and applying information to social situations). One hallmark symptom of Autism Spectrum Disorder (ASD) is impairment in these social cognitive skills (Greene, et al., 2011). For example, Johnny has high functioning autism and performs well academically, but avoids social situations. He struggles to follow and contribute appropriately during conversations with his peers. Lumosity’s research claims that program participation can improve recall and concentration. Improvements in these areas may benefit social cognitive functions in kids such as Johnny.

Theory of mind is the ability of an individual to reason about the beliefs or intentions of others. Many individuals with ASDs struggle to develop this mental state of understanding. For example, Sally, a young girl with Aspergers Syndrome, was shown a Crest Toothpaste box and asked to guess what was inside of the box. Sally guessed toothpaste. She then opened the box and saw she was incorrect. Instead of toothpaste, there was a bottle of shampoo inside the box. Next, Sally was told that her dad was going to come into the room. She was asked what her father would say was in the box. Unable to separate what was in her mind (based on her experience), Sally said that her dad would think there was a bottle of shampoo in the box. Two of Lumosity’s potential target areas include mental flexibility and thinking outside the box. Practice in these areas and increased mental flexibility may better allow individuals such as Sally to understand and attribute mental states to others.

Executive function refers to a set of mental processes involving goal directed activity. An individual’s executive function includes the ability to plan strategically, control impulses, and think abstractly. Studies investigating the brain systems of individuals with ASDs reveal executive function is affected in autism (O’Hearn, et al., 2008). For example, it is common for children with ASDs to exhibit difficulty controlling impulses. Lumosity claims that data from their program reveal “[…] It is possible to train the cognitive skills that underlie function no matter what your current level of cognitive ability.” Improvements in executive function may lead affected children to exhibit greater impulse control. To read more about this specific study conducted at Stanford University, click here.

The “brain profile” is an essential feature for this program’s success. However, in surveying new members, Lumosity does not ask specific questions regarding existing disorders. Therefore it is important that the participant is able to offer honest and objective answers in assessing personal areas of strengths and weaknesses. This may be a potential challenge for individuals with ASDs. It may also be difficult for a parent or caregiver to offer an objective evaluation. Thus, consulting a neurologist, or other clinician, may be a helpful step in helping you and your child put together an accurate “brain profile.”

There is no shortage of research on Lumosity, the largest and fastest growing database on human cognition. To learn more about the completed studies supporting the exciting claims behind this “brain training” program, visit the Lumosity homepage. This program is a fun, addictive way to keep your mind sharp. You may find yourself so glued to the penguin on your screen that you forget you’re doing “cognitive homework” at the same time. Not only that, but this may be the only workout you can get in without actually leaving your couch!

Happy “exercising!”

Citations:

Greene DJ, Colich N, Iacoboni M, Zaidel E, Bookheimer SY, & Dapretto M (2011). Atypical neural networks for social orienting in autism spectrum disorders. NeuroImage, 56 (1), 354-62 PMID: 21334443

Kesler et al (2013). Cognitive Training for Improving Executive Function in Chemotherapy-Treated Breast Cancer Survivors. Clinical Breast Cancer – 06 May 2013. http://www.clinical-breast-cancer.com/article/S1526-8209(13)00049-9/abstract

O’Hearn K, Asato M, Ordaz S, Luna B. Neurodevelopment and executive function in autism. Dev Psychopathol. 2008;5:1103–1132. doi: 10.1017/S0954579408000527.

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Poem: Fall in New England

Fall in New England

Fall is such a beautiful time of year

There are plenty of sites to see here

Leaves with bright colors orange, yellow, and red

Signaling a change that the year is near the end

But fall is also a time of new beginnings

It is a time to start to learn new things

A time to look at the world in a different way

A time to learn new strategies to handle each day

Let’s take this time of change

And focus on new ways to think

Let’s give individuals with challenges a new look and rearrange

And find a common link

Fall reminds us to turn over new leaves

To think about starting new goals to achieve

I call on the world to change perceptions

And give all of us a new reception

I want to make new friends and create a new start

I like to develop new relationships with an open heart

I hope to be accepted for the person that I am

So people can understand a true autistic man

— Scott Lentine, a smart, poetic and inspiring 26-year-old man who happens to have autism.

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