All About Autism

As we approach Christmas, I began thinking about Christmases past. Ryan’s first Christmas was quite eventful. Erie was in the midst of the Blizzard of ‘93, and we were picking up my mother and driving to Uncle Joe’s house for Christmas dinner. Typically, it takes 45 minutes to get to his home – on this evening, it took one hour just to get to my mother’s home! There was no visibility, but we forged ahead in hopes that the weather would get better. By the time arrived, there were “No Travel” advisories on every TV station. Rather than risk driving off the road with a newborn baby, we turned around and drove home.

Since that first year, Ryan has experienced every kind of Christmas imaginable. Regardless of the weather, we have been fortunate to spend this special day surrounded by family and good friends.

From the start I encouraged Ryan to think about baby Jesus and the story of the first Christmas.  As the wise men brought Jesus three gifts, Ryan would receive three gifts on Christmas.  We’ve continued this through the years.  !  I have encouraged many to use the story of the three gifts of the magi for their children.

This year his gifts will be a Holiday Valley ski pass, Waldameer/Waterworld pass and golf lessons… but it’s a surprise, so don’t tell him! Just yesterday, Ryan wondered out loud what his three gifts would be.

This year, while it may not be a white Christmas, Ryan is hosting a Jingle & Mingle party for many of his cousins, aunts, and uncles. Ryan is turning out to be quite a party planner! He loves the idea of people coming to his house, choosing the goodies to eat and drink, and being in charge.

It will be a very Merry Christmas – I hope yours is as well!!

Scientists and researchers are constantly uncovering more information related to autism, offering insights into the origins, possible causes and even at times potential cures. I come across dozens of articles on a weekly basis, some of which seem more important than others. I thought I would share on a monthly basis stories that caught my eye.

~Maureen

Large study shines spotlight on ‘mosaic’ mutations in autism

About 8 percent of de novo, or non-inherited, mutations in people with autism appear in only some of the body’s cells, according to an analysis of sequences from nearly 20,000 people. Previous studies missed the vast majority of these so-called ‘mosaic mutations.’ The findings add to mounting evidence that mosaic mutations contribute to autism risk. These mutations arise after conception; the later they occur, the fewer cells they affect.

Read the full article here.

https://spectrumnews.org/news/large-study-shines-spotlight-mosaic-mutations-autism/

Rethinking regression in autism

Epidemiological studies have found that anywhere from 15 to 40 percent of autism diagnoses fit the regressive type, with estimates varying wildly depending on how regression is defined. And regardless of the definition, estimates of regression’s prevalence (mainly as measured in the United States) have tended to rise as studies have become larger and more rigorous. This variability and expansion have both challenged the prevailing view of regression as an exception.

Read the full article here.

https://spectrumnews.org/features/deep-dive/rethinking-regression-autism/

Mice made with CRISPR usher in new era of autism research

Researchers have debuted two mouse models of autism made using the gene-editing tool CRISPR. Both strains lack one functional copy of CHD8, a gene with strong ties to autism. CRISPR allows researchers to quickly and efficiently insert specific mutations into single-cell mouse embryos. Several teams have used the method to make mouse models for other conditions, including Rett syndrome, an autism-related condition. The new mice represent the first use of the method to make models expressly for autism.

Read the full article here.

https://spectrumnews.org/news/mice-made-crispr-usher-new-era-autism-research/

MRI reveals striking brain differences in people with genetic autism

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.

Read the full article here.

https://medicalxpress.com/news/2017-08-mri-reveals-brain-differences-people.html?ref=yfp

Tune in next month for an update on autism research! Merry Christmas!

Recently, I read a fascinating book, Why We Sleep. I am one of those people who really try to get 8 ½ – 9 hours of sleep a night. I simply feel so much better when I’m well rested. After I read Why We Sleep, I now know that my sleep schedule is critical to my physical and mental health. I want to share a few intriguing facts that I learned while reading the book, although I do encourage you to pick a copy up for yourself – it is a great read!

• Routinely sleeping less than 6-7 hours a night demolishes your immune system
• Insufficient sleep is a key lifestyle factor that determines whether or not you will develop Alzheimer’s
• Every major organ within the body, or process within the brain, is optimally enhanced by sleep
• Sleep deprivation impacts the DNA and learning-related genes in the brain
• Individuals with autism show a 30-50% deficit in the amount of REM sleep they obtain, relative to children without autism. There is interest in discovering whether or not the REM sleep deficiency is a contributing factor to autism.
• There is a definite link between sleep deficiency and ADHD: the symptoms of ADHD are nearly identical to those caused by lack of sleep.
• The World Health Organization has now declared a sleep loss epidemic throughout industrialized nations.

Ryan has always struggled with sleep, often tossing and turning throughout the night.

After reading this book, I believe that some of his lack of focus, inattentiveness, and increase in anxiety and repetitive behaviors may in fact be, in part, due to a poor night’s sleep. I recently purchased Ryan a “Queen size” bed and he seems to be sleeping better. Whether incidental or not, it does seem correlated to better focus and job performance! This book has helped me understand some of the “scientific” reasons for his behaviors. We are working on some new ways to promote better sleeping habits – I’ll keep you in the loop as we move further down that road!

Oh my goodness! Ryan turns 24 tomorrow!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

Yes, this is difficult for me to truly believe and accept  — 24 years have passed since he came home from the hospital!

I still remember it like it was yesterday… We were living in North East and, of course, we were in the midst of a snow storm.

I recall turning up the heat to make sure that his bedroom was warm.  My brother, Joe, who lived next door came by and said that the house felt like a steam room. I turned the heat down, needless to say!

Jeanne and Dianne came out to assist with his first bath. Dianne, the oldest in her family of 12, had lots of experience with bathing babies.  So I entreated her to help – everything was so new to me! We even did a video of “Ryan’s first bath” which I still have today.

In a blink of an eye, the next 23 years have passed. There have been peaks and valleys in this journey but I am truly proud of Ryan’s many successes. He has had a GREAT 2017!

Between working at Bello’s and BNI, exercising at LECOM, skiing at Holiday Valley in the winters and golfing at Kahkwa in the summers, I am trying to keep up with him!

As I look back over the years, I know that I have so much to be grateful for: family, friends, outstanding staff, and the Erie community that welcomes children with disabilities.

And the future???? My expectations continue to be high and who knows what the future will bring.  He has accomplished much more than even I would have dreamed!

I continue to believe that nothing is impossible and as Audrey Hepburn so simply said, “the word itself says I’m possible!”

Thanksgiving is one of my favorite holidays; no, not because of the turkey and stuffing! This holiday provides the opportunity to do some soul-searching and reflect upon what I’m grateful for. Moreover, this special time of year, when people go out of their way to be a little bit kinder and warmer, is a rejuvenating reminder of what we are grateful for all year long.

This year, I focused on how grateful I am for:

• A supportive family, through the ups and downs of life
• Ryan, who has helped me to grow in so many ways and has taught me to look at my glass as always “half full” and never “half empty”
• Good health that allows me to keep up with my 23 year old son!
• The creative, committed, enthusiastic, loyal staff members who work with our children, adults, and their families
• An organization that is always striving to improve the lives of children and adults with disabilities through the latest technology, research, programming, and training
• The children and adults themselves, who remind me every day that life is precious

Whether with a gratitude journal or in daily meditations, pausing to give thanks for even the smallest things on a regular basis can have a big impact in your mental health and overall happiness. I’ve started my gratitude journal for the year and I can’t wait to see where it takes me!

As I looked for a quote to share today, I was overwhelmed by choices and thought: why choose only one? I hope you have a wonderful holiday!

With Thanksgiving just around the corner, I was thinking about some of the tips that I’ve learned over the years to make the holiday a pleasant one for you, your child, and your family!

• As you plan your holiday meal, be sure to include items that you know your child enjoys. Perhaps that means even a special side just for him/her.
• Keep appetizers either under cover or not readily available. Ryan has his favorite appetizers and, if given the opportunity, will dine on those versus waiting for dinner.
• Keep the dinner short and sweet! Your child will likely not be able to sit at the table for an extended period of time.
• Consider a visual schedule to encourage your child to eat slowly. This is one I always used with Ryan, and today I encourage him to put his fork down after each bite and count to ten!
• Allow your child time to be in a quiet space prior to dinner; he or she may want to watch a movie on the iPad, play with a favorite toy, or, as Ryan says, “Do preferred activities!”
• Catch your child being “good.” I constantly reinforce Ryan for utilizing manners, eating slowly, and engaging in conversation with guests.
• If your child does exhibit behavioral challenges, prepare your guests. Let them know how you handle disruptions and encourage them to follow your lead.
• Create a social story for the day. Autism Speaks has a great social story available for download here.

We have a very low key Thanksgiving: we spend the morning at LECOM, and in the afternoon we decorate for Christmas. A local restaurant provides take-out, which takes away the stress of the day and allows me to truly enjoy the holiday!

Happy Thanksgiving to all!

Since its premiere in September, I have often been asked the question: “What do you think of the TV show, ‘The Good Doctor?’”

If you don’t watch much television, “the Good Doctor” is about a surgical resident with autism who balances medical brilliance with interpersonal challenges. More popular than the TV hits “NICS” and “This Is Us,” “the Good Doctor” has 17.5 million total viewers every episode – that’s a lot of people!

Answering the question of what I think about the show is a tricky one. As I always say, if you’ve met one person with autism, you’ve met one person with autism. That is to say, each person with autism has his or her unique strengths and challenges. As autism is a spectrum disorder, we have many individuals who struggle with intellectual limitations, social interactions, and repetitive behaviors; and yet, we have individuals, like character Dr. Shaun Murphey, who are highly skilled, even brilliant, and would be considered on the “savant” end of the spectrum.

I’m pleased to see that a character with a disability has been accepted into mainstream television; however, my concern is that, although entertaining, the Good Doctor might lead the general public to believe that all persons with autism look and act like Dr. Murphey. And if that is the case, why should persons with autism require funding for supports and services? Dr. Murphy obviously does not require these services. However, for many persons with autism, they are essential.

Looking forward, I hope that we begin seeing characters on TV and in movies who reflect the wide range of abilities and characteristics of those with autism. Perhaps Dr. Murphey could treat a patient with moderate to severe autism; wouldn’t that be interesting?

As we anticipate World Kindness Day on Monday, November 13^th, I began thinking…

Initiated in 1997, this is a day set aside to focus on extending kindly acts towards others, without the expectation of anything in return. While it would be nice to say that every day should be World Kindness Day, the reality is that sometimes work, current events, and other personal challenges can get the best of us. Not to mention that as soon as we open the newspaper or turn on the television, we are confronted with everything from violence in the world to political debates that sometimes focus on the negative. We could certainly use an entire day dedicated to kindness!

Kindness Day isn’t only about volunteering in the community – it can also about the little gestures, expressions, and even thoughts of kindness, too.

Whether it is buying a coffee for a stranger in line or letting go of resentment, the mental and physical benefits of kindness, including healthier hearts, better aging, and improved relationships, should make us want to smile more and frown less. Not to mention, kindness is contagious!

Focusing on and noticing the good qualities in the world around us gives our moods a boost all by itself. And studies show that compliments amplify positivity; they not only deliver positive effects to others, but those effects bounce back on the person giving the compliment.

Since Ryan was a young child, I have tried to instill in him the importance of compliments and being kind to others. Sometimes, he goes overboard and will repeatedly thank you for helping him or doing something for him, but all in all I would rather he say it too many times than not enough.

I love hearing his compliment to me: “You’re the best mom ever!” Nothing brightens my day more!

If you are looking for some creative ways to be kind out in the community, Pinterest has a number of “Kindness Challenge” calendars that provide a wealth of ideas. Feel free to share any of your ideas or ways you plan to acknowledge World Kindness Day below!

Dressing up as a favorite superhero, trick-or-treating for goodies, and spending the evening with friends are just a few reasons why Halloween can be such a fun holiday for parents and kids alike. However, for many children with autism this night also has the potential to be a difficult and stressful time of year.

If you or someone you know has a child with special needs but still plans to trick-or-treat, here are some ideas to make sure everyone has a safe and fun Halloween:

– Flashlights: Ryan carried one to help him see in the dark/dim evening. It gave him a sense of comfort and some means of control.

– Practice: Try on the costume, including make up or masks, to make sure he/she is comfortable; walk the route you intend to take; and talk about what will happen after trick-or-treating. Predictability is key to helping children with autism feel safe and calm.

– Role play: Similar to practicing, role playing provides structure and outlines specific behavior for trick-or-treating. Halloween is also a great opportunity to reinforce good manners, such as waiting their turn to ring the doorbell, saying “Trick or Treat,” only taking one treat, and always saying “thank you” before leaving.

– Be aware of sensory triggers: Although Halloween decorations can be very entertaining, flashing lights or loud sounds may evoke unpleasant sensory reactions for your child.

– Know your limits: As soon as you see your child becoming over-stimulated or agitated, it’s time to go home.  It’s okay the end the evening earlier than planned.

– Be prepared: If your child is nonverbal or has difficulty communicating, it’s important to make sure that he or she wears an identification bracelet in the event that you are separated while trick-or-treating. Another idea is to create a “Trick-or -Treat” card explaining your child’s special needs and pass it out to houses on your intended route in advance of the evening. It’s a simple way to make everyone feel more comfortable.

Although Ryan hasn’t gone trick-or-treating in many years, he enjoys the Halloween ESO dance and has always enjoyed this holiday very much. That’s not to say that we haven’t used many of the tips above!

Any suggestions I may have missed? I would love to hear what has worked for your family!