Archive for September, 2010

Autism in the News – 09.22.10

September 22, 2010 Leave a comment

Gravel pit rejected (Canada)
Pat Hanson dreaded the prospect of a gravel pit operating a stone’s throw from her backyard. Read more.

Staten Island officials focus energies on autism (Staten Island, N.Y.)
With 5,000 children and adults suffering from autism on Staten Island, and the numbers climbing, Borough President James P. Molinaro is joining with community groups and others here to launch a boroughwide initiative aimed at getting families the help they need in dealing with the disease. Read more.

This weekend’s made for walking (Waltham, Mass.)
As the weather turns from oppressively hot to mild and crisp, area residents are lacing up sneakers and hitting the pavement for good causes throughout the state. This weekend is no exception. Read more.

Victoria committed to helping all children with autism (Canada)
I recognize that changes announced to autism programs last fall have not been easy on families who were previously enrolled in the Early Intensive Behavioural Intervention (EIBI) programs. However, there is a balance we have to strike between available funding and our ability to serve as many children and youth as possible. Read more.

Dedication is served at Starpoint (Pendleton, N.Y.)
Sometimes in sports the game means so much more than the final score. For Starpoint’s boys volleyball team, this past Friday was one of those nights. With Starpoint up two games to none against Maryvale and leading 21-14, coach Kirk Spitler made three substitutions. Read more.

Crowdrise Marathon Contest

September 22, 2010 1 comment

Our friends at Crowdrise are doing a contest for all of the New York City Marathon campaigns that have signed up this week.  Whichever marathon project raises the most money on Crowdrise, starting today, September 22, through the end of the day on Tuesday, September 28 will get their marathon project featured on one of the rotating slots on the Crowdrise home page for the following week.

Please check out the page and show some support for those on Team Autism Speaks for the 2010 ING New York City Marathon.


September 21, 2010 4 comments

This post is by Sharon Boyd, the  Advocacy Relations Coordinator for Autism Speaks.

“Never doubt that a small group of thoughtful, committed citizens can change the world. Indeed, it’s the only thing that ever has” – Margaret Mead

I read Margaret Mead’s words for the first time shortly after my son, Austin, was diagnosed with autism.  At the time I didn’t realize just how much her words would become a part of my future.  

Like many children with autism, Austin was denied insurance coverage for his autism treatments. No matter how hard I tried, without private insurance coverage, I could not get my son the treatments his physicians prescribed.  I finally quit my job as an RN to lower my income, so that we could qualify for Medicaid and provide him with access to speech therapy.  It was obvious to anyone that big policy changes were needed if our kids with autism were going to get the care they needed.

The more I networked with other families throughout my state, the more I realized there must be strength in numbers.  We needed to unite our voices.  We needed to become that “small group of thoughtful, committed citizens” that Margaret Mead spoke about in order to get our legislators to listen and “change the world” for our children with autism. 

When the autism community uses one voice, our legislators listen. They hear us loud and clear, with one booming voice and they too become committed to the policy changes our families so desperately need.  This is what happened in my state of Florida when we finally passed our autism insurance reform bill in 2008.  It is what has happened in 22 other states across the country that has passed meaningful autism insurance reform laws.  And it is what happened when the autism community came together to pass the Combating Autism Act in 2006.  Strength in numbers. 

Autism Speaks holds walks across the country that raise funds for autism research. But these walks serve another purpose as well.  Every walk has an advocacy booth that is part of the Autism Votes initiative.  This fall the volunteers at the Autism Votes booth at every walk will be there to provide you with information on the important pieces of pending autism-related federal legislation, such as the ABLE Act, which seeks to allow families of a child with a disability to save money, tax-free, for future needs as an adult.  Most importantly, at the Autism Votes booths this Fall, you will have the chance to sign a petition in support of the ABLE Act, and/or other autism-related federal and state legislation.  Your signature on this petition will join with the hundreds of others collected at your walk and, acting as a united message from a united voice, will go directly to the legislators who can bring about the changes our families need.    

So, be sure to stop by the Autism Votes booth when you attend an Autism Speaks walk this fall.  You can’t miss it…it’s the only booth with red, white and blue streamers, balloons and other patriotic decorations!  Or find one of the Autism Votes volunteers with a clipboard that will likely be walking through the crowd asking for signatures.

Signing a petition at the Autism Votes booth will take you just one minute.  Just one minute of your time to become part of a united voice in the autism community.  A simple minute to become that committed citizen and change the world for your child or a child you know with autism.

Autism in the News – Tuesday, 09.21.10

September 21, 2010 2 comments

Special-needs children put extra pressure on working parents (
ESPN commentator and former tennis star Mary Joe Fernandez remembers the day she learned her son had asthma. “It was like a wake-up call that threw me into action,” Fernandez said. Read more.

Restaurateur scales the high peaks (Lake County News-Sun)
What a way to work up an appetite. Highland Park resident Gabriel Viti is the chef and owner of Gabriel Restaurant and the  owner of Miramar Bistro and Gabe’s Backstage Lounge, all in Highwood. Read more.

Health Alerts: autism, danger in laser pointers, diet-danger foods (Los Angeles Times)
Infants frequently gaze at people’s faces. Those who don’t may exhibit one of the first signs of autism, researchers say. Read more.

New York Child Learning Institute changed Queens autistic boy’s life for the better (Queens, N.Y.)
She knew something was wrong with Michael when he was 15 months old. “We’d call his name and he wouldn’t answer,” says Liz Carrao, of Flushing. “But our pediatrician put us off. He said he’d do a hearing test when he was 2. But I knew there was nothing wrong with his hearing because if he heard ‘Blues Clues,’ on the TV in the other room he’d hurry to watch it.” Read more.

Autistic boy ‘discriminated against’ by school, says mum (Scotland)
An autistic school boy who is in class for only an hour and a half each day is being discriminated against, according to his angry mother. Read more.

Autism in the News – Monday, 09.20.10

September 20, 2010 Leave a comment

Former Islander Clarke Gillies Shaves Head for Foundation (Melville, N.Y)
Mention the name Clark Gillies to anyone who was a fan of the New York Islanders in the late 1970s to early ’80s, and they likely remember his physical appearance as much as his athletic ability. Read more.

Autism training pays off at RUSD (Redlands, Calif.)
The 2010-11 school year is off to a good start so far for some students in the Redlands Unified School District who have autism. Read more.

School uses unique methods to teach those with autism (High Springs, Fla.)
Blue’s Clues is one of Jacob’s favorite shows even though it’s for “little kids.” The 10-year-old shows a visitor his coloring that looks like the familiar notebook used on the Nickelodeon children’s program. Read more.

Australia’s Wiggles still on song after 20 years (Australia)
They went from student project to global fame, out-selling Kylie Minogue, but Australian children’s band The Wiggles say they’re amazed by their success as they prepare to celebrate 20 years. Read more.

Parents and teachers learn PECS system (West Lafayette, Ind.)
With a rising number of diagnosed children on the autism spectrum, the need has also risen for products that help autistic children and for professionals who know how to use them. Read more.

Desperate mother opens literacy centre (Canada)
Educators said her son would stay stuck in kindergarten, but Sue Co knew the boy could learn. At first, her attempts to teach him were hit and miss, she says. She tried forcing him to read — to look at the page and spell out the letters c-a-r — but he kept turning his head away. Read more.

Autism Speaks U at Seton Hall University

September 20, 2010 5 comments

This guest post is by Autism Speaks staffer Kerry Magro.  Kerry, an adult who has autism, is a rising senior at Seton Hall University, majoring in Sports Management. He started an Autism Speaks U Chapter: Student Disability Awareness on campus to help spread awareness and raise funds for those affected by autism. Autism Speaks U is a program designed for college students who host awareness, advocacy and fundraising events, while supporting their local autism communities.

In 2008, Autism Speaks U was founded. The same year, I founded an undergraduate, student-run organization at Seton Hall University called, Student Disability Awareness (SDA). It is an organization focused on spreading disability awareness for both temporary and permanent disabilities. This fall, my organization is collaborating with Autism Speaks U to become an official Autism Speaks U Seton Hall Chapter. During the next few months, our mission is to promote and spread awareness for Autism Speaks U, while hoping to become another student certified organization at Seton Hall during spring of 2011.

Kerry and friends at Seton Hall University

At Seton Hall, disability awareness is something that is rarely promoted or discussed. 350 students are registered with a disability on our campus, along with another 650+ others who are not. We are one of the largest minorities at Seton Hall (this should not be a surprise considering people with disabilities in general are the largest minority in the world). SDA was the first disability awareness organization ever created at Seton Hall and with Autism Speaks U, we will have a second. With this organization, we move a step closer to giving disability awareness a voice, not just through Seton Hall, but all of New Jersey with our community run events throughout the state. Through SDA, we have several events set up for Autism Speaks U. The main one is a Seton Hall organized, Walk Now for Autism Speaks team called “SHU Make a Difference.” They will participate in The Northern New Jersey Walk in Cranford on October 17th. We are currently the 5th highest fundraising team for the walk and are still looking for donations (if interested in donating, please check out my fundraising page or our team page).

Along with the walk, we are already planning informational seminars about autism, along with monthly roundtable discussions on the subject. There is also an event called “Coming Out: Autism in College,” where we encourage both disabled and non disabled students alike to come out and spread the message that it’s okay to be just the way they are. I will be reading an excerpt from my manuscript, “Autism: The College Spectrum,” from one of my earlier blog posts. I will also be speaking about my progression as someone on the autism spectrum. Nothing about us, without us is our message throughout this event. We will be promoting Autism Speaks U to encourage student involvement and have flyers, brochures, and an information table set up for this week. We also have a faculty of supporters spreading our organization through the class rooms.

As a college senior, I know this is the last hoorah. It’s going to be a great deal of work for the SDA members and me. My mission however has made me hungry, which is to make sure I push what needs to be done to make sure that these two organizations can stand on their own once I graduate. The struggles that I’ve endured through college have made me a stronger person. Ideally, I want to make sure the future of students, disabled or not, can have someplace to feel safe, and to understand that it’s ok, once again, to be just who you are.

Let’s get to work….

If you are involved with Autism Speaks U on your campus and would like your story to be featured on the Autism Speaks blog, please send it to Autism Speaks reserves the right to edit contributions for space, style and content. Because of the volume of submissions, not all can be published on the site.

In Their Own Words – An Aspie’s Dream

September 18, 2010 6 comments

This “In Their Own Words,” is written by Aaron Likens from St. Louis, Mo. Likens is the author of “Finding Kansas: Decoding the Enigma of Asperger’s Syndrome.” To find out more, check out his blog here.

I want everyone to know that for the most part, I am happy. It is my dream that people learn this. I may have some challenges, but I am not defective. I don’t deserve or need your pity and am happy being me.

There are times when the world tries to get me to fit in, and sometimes I try, but there are other times when a social situation may be too much for me. I have had situations in the past where I have been called weird or odd for trying not to fit in. It is my dream that the world begins to not only know about us on the autism spectrum, but begins to understand us.

We have a lot to learn from each other. I look at, sometimes completely perplexed, how two random people can have a conversation. I know others look at me, completely perplexed, when I get excited about a random fact that I recall about auto racing, or when I have the ability to learn some new obscure facts. It is my dream that the world comes to realize that socializing can be difficult the same way it would be for you to recall minute details from the 1992 Indianapolis 500. We are the same, but different.

It is my dream that I never have to apologize to again. This can only come from understanding. Being on the spectrum isn’t something to look down upon! Yes, it has its challenges, but it has its blessings. Each person is unique. Let’s cherish the uniqueness and not look down upon it. In my mind an apology like this is reserved for something really horrible, and I don’t see it that way. I hope, and dream that, eventually, all will see this.

I dream what everyone else dreams about. I want to have a full, productive life. I want a family, a career, and the ability to live my life to the fullest. Some people seem to think that an autism label is the end and that to dream such things is a waste of time. No dream and no person is a waste of time. Yes, we may need to work harder at some things, but if we’re not given a chance then how can we succeed? There is so much potential in a mind on the spectrum, but if not given the chance how can one dream of the things that I dream about?

Finally, my biggest dream is a day where the word autism doesn’t draw a repulsive reaction for those who aren’t affected by it. Autism has to be one of the most misunderstood conditions, but understanding is coming. I haven’t had to debate someone on what autism is for quite some time. When I say “asperger” people don’t think of a food item or Olympic venue (sad, but true!). Everything in this world started as a dream, and my dream was already started by countless of people before me and I hope I can do my part in fulfilling it. I know I am not alone in my dream. All of us can do some part in educating some one; whether it is a school, politician, or a random person in a grocery store. I feel the world is listening and is open to learning about us. In all reality there isn’t that much that separates us; we’re all people, we all have dreams, and for us on the spectrum we just have different traits. We have feelings, we can be scared, and most of all we just want to be understood. This is my dream.

“In Their Own Words” is a series within the Autism Speaks blog which shares the voices of people who have autism, as well as their loved ones. If you have a story you wish to share about your personal experience with autism, please send it to Autism Speaks reserves the right to edit contributions for space, style and content. Because of the volume of submissions, not all can be published on the site.

Autism in the News – Friday, 09.17.10

September 17, 2010 1 comment

Victor judge adjourns case involving autistic teen (Victor, N.Y.)
Victor Town Justice  Edward M. Lyng Jr. this morning adjourned the case of an autistic teenager who spent a night in jail this spring following an incident at Victor High School. Read more.

Robert Keegan, Alumnus and Business Executive, Joins University of Rochester Board of Trustees (Rochester, N.Y.)
Robert J. Keegan, the chairman of the board of The Goodyear Tire & Rubber Company with long associations at the University of Rochester and within the Rochester community, has been elected to a five-year term on the University Board of Trustees. Read more

Golf club members have fundraising down to a tee (UK)
Wisley Golf Club members have raised more than £200,000 for charity, enabling them to donate a specialist minibus to an epilepsy trust. Read more.

Lama Therapy (Hobby Farms)
On the West Coast, a group of llamas certified in animal therapy make the rounds to help children and adults with disabilities and special needs. Read more.

Autistic Society school in Devon ‘may lose 30 staff’ (UK)
Up to 30 staff at a school run by the National Autistic Society (NAS) in Devon may be made redundant as part of restructuring, the charity has said. Read more.

In Their Own Words – Georgia’s Story

September 16, 2010 10 comments

This “In Their Own Words” is by Paula, a mother in Brazil. She requested her daughter’s approval before writing this story. They agreed to call her Georgia to pay homage to her favorite movie director, George Lucas. This story was translated from Portuguese.

When my daughter was first placed in my arms I noticed a unique and exotic beauty, a different kind of beauty. “Different” has been a key word in my life for nearly 22 years. There was something mysterious about her development, which was not only intriguing, but also concerning. I shared my fears with my husband, who did not notice anything different about her. To a certain extent he was right. Georgia was delivered through natural birth at 45 weeks and 5 days. By 3 months of age Georgia had a firm head, and by 7 months she could sit without any support. It wasn’t until years later that I found out that sitting in a “W” position was not appropriate.

Back then I did not know her diagnosis; I was living in a seesaw. At times I would feel restless and fearful, at others blissful. I was happy when Georgia crawled at 11 months, and when she began to walk at 14 months. Little did I know that her walking rhythm and speed were not appropriate.

My fears and anxiety were increased by our aloof relationship. I breast-fed her until she was 7 months, how could she refuse my touch? Why would she reject my arms yet embrace a stranger’s arms?

I was intrigued by her fine motor skills. She did not use her thumb to grab a toy.  When her attempt to get a toy had failed, she would then use her thumb and pointer, her pincer grasp, to get a toy.

I took Georgia to regular appointments with her pediatrician who claimed that she was fine, and reminded me that not all children have the same developmental pace.

I was visiting my mother with Georgia, then 8 months old, when the power went out. We placed some candles around the house; I put Georgia on the table and tried to call her attention to a candle’s light. I noticed that her eyes were pointing in different directions. One eye looked straight ahead, while the other eye turned inward, at this moment I yelled for my mother: “Mom, I know what Georgia’s problem is! She is blind! That explains everything.” We desperately called a friend of my mother’s, who was an ophthalmologist, and asked him if he could examine Georgia right at that moment.

I was much calmer when we left the doctor’s office. He told me that Georgia could see from both eyes, but she had divergent strabismus. We visited a few other ophthalmologists who agreed on the diagnosis, but not on the treatment. Some recommended surgery, while others recommended orthotic therapy to strengthen her eye muscles. We opted for orthotic therapy, which worked on improving the eye’s stability and balance, and on enhancing the integrity of overall eye muscles alignment. A few hours a day, seven days a week Georgia wore an eye patch on the eye that was considered to be working well, to force the malfunctioning eye to work more and, therefore, improve its sight.

By the time Georgia was a toddler she developed myopia and began to wear eye glasses. After a few years I decided to have her reevaluated and the new doctor suggested that we change the lenses sphere which practically cured her of the myopia. Since then she made great progress on making eye contact. However, at times when she felt tired she would avoid eye contact. There was no explanation for her inability to sustain eye contact.

At around this time I took Georgia and my elder son to a birthday party. At the party a man who was a retired pediatrician approached me and said: “Your daughter should see a orthopedist.” When I asked him why, he replied: “Because when an orthopedist sees your daughter, he will tell you that she actually needs a neurologist.” When I asked him what was Georgia’s problem he remained silent. At that moment I felt awful, like the world had just fallen on me. We left the party immediately. I felt vulnerable, emotional. I felt sad, enraged, and regret. I thought: “what if he is right?” Deep down I knew something was different.

The next day I took Georgia to see her pediatrician. I told him what had happened the night before, and shared my fears and concerns regarding her development. I spoke about her apathy towards me, could she be deaf? I asked him to help me find a diagnosis and to referrer me to a competent neurologist. He gave me a few referrals, and told me that Georgia was not deaf.

I took Georgia to a myriad of orthopedists that had divergent conclusions on her diagnosis and treatment. Some suggested that she should undergo surgery and remove one of her foot’s ligaments. They claimed that by doing that her posture would be improved and she would be able to have more control over her body. Some doctors mentioned low muscle tone, which I thought was a consequence rather than a cause. Other doctors recommended physical therapy to strengthen her leg and eye muscles. I opted for physical therapy because it is less intrusive and aggressive.

I finally managed to get an appointment with a neurologist, who examined her and concluded that she had Borderline Disorder. He explained to me that Georgia’s nervous system was developing very slowly, and that was the reason for her developmental delays. He claimed that she needed more stimulation and asked me to do so, in other to help speed up her development. The neurologist requested several exams, which indicated that all was well. Then he requested a CAT scan of her brain. The CAT scan showed a discrete ectasia of lateral ventricle. When my husband asked the doctor for further clarification he said that he could not say anything else without making additional exams. He told us that it might be nothing or it might lead to hydrocephalus, and the only way to know would be by performing regular CAT scans. My world was wrecked, once again. When we left the exam facility we went back to the office of the neurologist who had requested the exams, who said not to worry, because Georgia had a very little likelihood of developing hydrocephalus. He explained that she was too old to develop such a condition. Nonetheless, he requested a CAT scan to be done twice a year, and measured her head every three months.

This was our annual routine until she turned 7 years old, and because the results remained steady, from there on, she was only required to have a CAT scan every three years. But I still wondered: Could this really be the cause of her developmental delays? What about her fine motor skills? The doctors always told me that nothing was related.

I decided to resign from my job as a lawyer. I bought an apartment in Sao Paulo, where I lived with the children, and my husband stayed in our suburban home. We saw him only twice a week. I thought that by living in a big city I would have better access to top-notch doctors and treatments.

When Georgia was 11 months old, she received physical, occupational, speech, and hydrotherapy therapies three times a week. I sent her to a nursery school. I wanted her to engage with other children.

When her school friends could not come over for the weekend, I would invite her friends from acting school. I believe the acting classes played a major role on improving her social skills. I used any excuse to have a party, any holiday or religious celebrations. Children always came wearing a costume related to the occasion. I was always involved in her play. I wanted to make sure that she was not left out, nor would she withdraw from her friends.

Georgia learned how to read and write when she almost 6 years old. She always enjoyed reading and has an excellent memory. She displayed great interest in history and geography. She was slower taking school exams and doing homework, but she never showed any learning disability.

Before I forget, Georgia began speaking when she was 2 years old. She never learned how to ride a bike or dress up her dolls. However, she was very knowledgeable on the subjects she liked; sometimes she showed even greater knowledge than the adults around her. Georgia easily learned how to swim, but she struggled to learn how ski.

Georgia is a sweet and caring young woman. She enjoys social situations. But was not always like that. During her adolescence she experienced stages of irritability and anger. She refused to go out with her girlfriends, and eventually they faded away. During this time she was unable to make new friends, or keep the friends she already had. Her girlfriends began to flirt with boys and go out at night. Georgia, however, never showed interest for boys. She had a few crushes that never evolved into relationships. From time to time I noticed, and encouraged, great progress in her social life. Many times Georgia isolated herself from family and friends. When we were going to see a movie or a play she constantly asked to stay home, but I never allowed that.

Georgia’s answer to everything was “no.” So I accommodated our life style to keep her around us. We only had one television in the house, so that we could learn how to share. Share not only the television but also life. If she wanted to read in her bedroom, I would ask her to read in the living room, so she would stay with us. I always kept her busy so that she did not spend much time without an activity. The only way she would join the family activities was by obligation, but I did that because I knew that at the end, despite the stress to get her in the car, she always had a good time.

Georgia did not have a diagnosis for many years. In fact, it was only a few years ago that I learned about her diagnosis. Georgia has Asperger syndrome. Only four years ago I heard that autism was a spectrum disorder.

For much of the past 20 years, my main focus has been my daughter. Sometimes I felt guilty for not spending as much time with my elder son, who was only a year and an half older. I felt guilty for not demonstrating how much I loved and cared about him. I was very lucky, because he never complained; he noticed and understood that his sister needed the extra care and attention. Today he is a 24-year-old man and he is an amazing human being. I also have two younger neurotypical sons. I must confess that I was quite apprehensive during the last two pregnancies, because I suspected Georgia’s problem was hereditary since I have an uncle who is “different.” But I am so grateful that today at 15 and 18 years old, they are amazing brothers and have nothing but love, acceptance and respect for her.

I never had a doubt about having a big family. All of my children are unique; they live in their own universe. As a mother I try my best to treat them equally. I always give the same advice to my children: Try your best to achieve all that you want in life, but never hurt yourself or others while doing so.

Today Georgia is 22 years old. She is attending college with a major in cinema. Her interests have not changed, but evolved. She likes history, but not just any history, British history. About a year ago we talked to Georgia about her diagnosis. I hesitated to talk to her about it, because I was afraid she would lose her desire to live and chase her dreams. I was afraid she would lose her motivation to overcome the obstacles and even her own self. After we talked to her about it, she decided to stop her treatment with her psychiatrist. After 14 years of weekly sessions she decided she was ready to walk on her own. When I asked why, she replied: “I always wanted to know what the problem was. Now that I know what the problem is, there is no need to continue the therapy sessions.” Her psychiatrist helped not only Georgia, but also the whole family so although I was hesitant, I respected her decision.

Besides attending college, Georgia still sees a team of therapists who support her development. She receives therapies twice a week. She also has a tutor who helps her with her college assignments. Georgia does Pilates and aerobic exercises twice a week. She receives hippotherapy, and takes English classes. She has been to a myriad of classes, such as piano, violin, guitar, ballet, and pottery. She recently got her first job! She works in a pet store and has had two cats and many dogs.

Georgia gets to decide who needs to know that she is on the spectrum, and gradually she is learning how to deal with it. I think I can say today that among all mistakes and good decisions, telling her the truth about her diagnosis was a great decision. Although she knows there is no cure for her disorder, she continues to overcome her obstacles. Georgia still has lot to accomplish and improve, but she has amazing passion and I know she will accomplish her long-term objective to be as independent as possible.

As her mother, I have learned to handle and control my anguish. I try not to worry about the simple daily problems. Among the many things I learned from Georgia, I learned that some problems have no immediate solution, so all we can do is manage these problems in the best possible way.

Georgia has taught me to be patient, objective, happy and empathetic. During my journey I have met children, parents, and even entire families who struggled with the same issues, the same fears, anxiety, anguish, and even worse problems than I had. Most of them did not have the same financial and educational resources that Georgia had.

Like the adage says, “no pain, no gain.” Today I am one of the co-founders of a charitable organization for autism. The experiences I had made me realize that we must work for a common good. Each one of us can do something to promote change. One step at a time and love will keep us together.

“In Their Own Words” is a series within the Autism Speaks blog which shares the voices of people who have autism, as well as their loved ones. If you have a story you wish to share about your personal experience with autism, please send it to Autism Speaks reserves the right to edit contributions for space, style and content. Because of the volume of submissions, not all can be published on the site.

New CNVs on Chromosome X

September 16, 2010 15 comments

Guest blog by Dr. John Vincent, who is a Scientist and Head of the Molecular Neuropsychiatry and Development Laboratory of the Psychiatric Neurogenetics Section in the Neuroscience Research Department and an Associate Scientist of The Centre for Applied Genomics at The Hospital for Sick Children, Toronto.

The group here in the Molecular Neuropsychiatry & Development Lab at CAMH, along with our collaborative partners at Sick Kids and elsewhere report the identification of PTCHD1 as a gene for autism spectrum disorder, as well as intellectual disability, on the X-chromosome. The finding stems from attempts to find differences in specific strands of DNA, called copy number variants (CNVs) in the DNA of autistic individuals that might be linked to the condition. If the human genome can be thought of as a book containing the DNA code written out in words and sentences, we each of us have our own unique book, with many words spelled differently from each other, but mostly without changing the overall meaning of the words and sentences. Traditional genetic studies would try to identify spelling mistakes that compromise the meaning of a sentence, and thus lead to an incorrect message, i.e. resulting in a clinical condition. In our current study we have been looking instead for whole sentences, paragraphs or pages that are either deleted or duplicated (i.e. CNVs), thus altering the meaning of the message, and leading in this case to autism.

We were particularly interested, in our study, to look at CNVs on one of the 2 sex chromosomes, the X, as it might explain some of the bias towards boys having autism over girls. In our initial screen of over 400 autism patients, we identified a large deletion disrupting the PTCHD1 gene. In an analysis of CNVs in genomes from over 1000 more autism individuals, deletions just next to this gene were the most significant finding. These deletions are likely to disrupt DNA sequences that may regulate how the PTCHD1 gene is expressed. In addition, we identified many single letter changes in the PTCHD1 gene that may affect the “meaning”. These changes were not found in the DNA of many control individuals.

The PTCHD1 gene makes a protein with as yet unknown function, however it shows similarities to several known proteins that function as cell-surface receptors for an inter-cellular signaling pathway known as Hedgehog, crucial in determining how brain cells develop and mature. The preliminary data we present in the paper shows that PTCHD1 appears to have similar properties to the two Hedgehog receptors already known, leading us to speculate on a role for Hedgehog-related processes in autism.
These findings give us another important gene that we can screen for in at risk children, and will allow earlier therapeutic interventions, thus increasing the likelihood of success.

For more information, please see the press release.

Categories: Science Tags: , , ,

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