Home > Government Relations > Unraveling a Mystery in Nebraska

Unraveling a Mystery in Nebraska

The Combating Autism Reauthorization Act of 2011 would reauthorize the landmark Combating Autism Act (CAA) of 2006, securing the federal response to the national and public health emergency posed by autism spectrum disorders (ASDs.) Key components in the original landmark legislation will expire on September 30, threatening further federal support for critical research, services and treatment for ASDs. Families across the United States have shared how funding under the CAA has changed their lives and why it is so critical  to maintain a strong federal role in  research and treatment. Click here to learn more.

A conversation with Cynthia Schauss

Of the many enigmas that confront the autism community, understanding Phelan-McDermid Syndrome (PMS) has proven one of the most perplexing. In fact, just 600 cases have been identified, although the actual prevalence is believed to be far higher. PMS is caused by the absence of genes at the tip of the 22nd chromosome; the lack of the “Shank3 / ProSAP2” gene in particular is suspected as the primary cause of the symptoms associated with PMS.

Cynthia Schauss has come to learn about Phelan-McDermid Syndrome in raising her eight-year-old daughter Ashlyn in Bennington, NE, just outside of Omaha. Ashlyn’s developmental delays were not readily apparent, but her family knew she was struggling. Only because of improved genetic testing made possible through funding under the Combating Autism Act was the Schauss family able to obtain a PMS diagnosis for Ashlyn. This summer, Ashlyn will take part in stem cell research funded through CAA at Stanford University to broaden the knowledge about autism and Phelan-McDermid Syndrome.

We struggled for seven years to find out what was going on with our daughter. Doctors would tell us over and over again, “I have never seen a child quite like Ashlyn!” The medical field has not quite caught up with the diagnosis. We had to force the issue that something had to be wrong. It was important for us to get our doctors to understand that we wanted to do whatever we could to help our daughter.

The initial concerns for the Schauss family involved delayed speech and they began early intervention when Ashlyn was 2. At age 4, a psychiatrist recommended ADHD medications. An autism clinic reported Ashlyn was too social, although she did have other autistic characteristics. A genetic doctor believed Ashlyn had the most severe case of ADHD he had ever seen along with a possible case of dystonic cerebral palsy (CP.) An initial genetic test revealed no abnormalities.

We decided to redo genetic testing last June when Ashlyn was 7 and that test showed the partial Shank 3 deletion.  We credit advancements in the genetic micro-array to aiding in finding the deletion as her deletion is so incredibly small.

For us, it’s important to partner with the school system to aid in understanding how to work with Ashlyn in a school environment and how to understand her disability. Part of Ashlyn’s issue revolves around a receptive language disorder.  She is completely verbal, but has a hard time understanding what is expected of her.

As Ashlyn has aged, her traits of autism have become more obvious, as Cynthia related in a recent story written for the PMS Foundation:

At the age of 8, Ashlyn seems more like a 4-5 year old. Her delays are becoming more and more evident. She can’t ride a bike or participate in sports. She shuffles her feet when she walks. Her obsessive finger chewing and picking make her stick out like a sore thumb in a class of her 2nd grade peers. Reading, writing, and math seem like partially unobtainable goals.

After years of telling doctors and therapists that something was not right, we finally received a diagnosis. We’ve learned to cherish Ashlyn’s speech and verbal abilities. We love that she is mobile and that her motor impairments are somewhat mild.  We struggle to understand why she can talk and walk and other children with the same deletion are mostly non-verbal or immobile.  We hope that future research can shed some light on the diagnosing and understanding of PMS and autism.

  1. July 6, 2011 at 12:08 pm

    Wow. I find myself perplexed by the diversity in children with autism. My son is three and is just starting to speak, but he struggles with understanding the meaning of words and putting language together and still has a few sensory issues. I am so proud that you followed your wit until the genetic advancements were made and a true diagnosis was developed.

  2. Melanie Minor
    July 6, 2011 at 2:05 pm

    Just wanted to say your daughter is beautiful. We live in Alabama and my daughter is almost 8yrs old. She also has PMS.

    • Noreen
      July 6, 2011 at 5:23 pm

      She IS absolutely gorgeous! Good luck and you are very proactive and loving parents! I wish you all the best and I hope that your beautiful daughter lives a long happy life!

  3. July 6, 2011 at 2:22 pm

    She’s a beautiful girl, too. At first glance, one would never suspect Autism as it is still portrayed in the larger community.

  4. July 6, 2011 at 3:11 pm

    Interesting article, BUT “delayed speech” and “early intervention at 2″…all I can say is “WOW”!! NONE of my 4 kids talked or even uttered much of anything until AFTER their 2nd birthday!! One of my “normal” kids didn’t “talk” until he was FOUR! This is ridiculous….My daughter just graduated from college with a degree in Fine Arts, magna cum laude. She had the very same “issues” in 2nd grade, including “sticking out like a sore thumb” because of her obsessive figure chewing, palm licking, and cuticle picking. Oh, and the inability to participate in sports or ride a bike (at 8), yeah, been there, done that (literally told by the gymnastics instructor that she couldn’t return because she couldn’t do a somersault). She was diagnosed by a pediatric neurologist when she was 7 as severe ADHD, ODD, and depressed….never a mention of any kind of “autism”. The school finally said they didn’t know how to serve her (she was just too “weird” for them; academically challenged in a different way, and extremely emotionally immature) even suggesting that I was an unfit parent. So I homeschooled her until she was a junior in high school, at which time she returned to the public school system, eventually graduating from high school, the community college and the local university. She and her father (who I am no longer married to) are carbon copies of each other; he has completed all of the course work for a PhD in engineering and is a rocket scientist. I am a special education school teacher now and parents really need to get over their child’s differences…really.

    • Toni Anderson
      July 6, 2011 at 3:37 pm

      Unfortunately not all of us have the opportunity to home school. We need to find a way for our “different” children to still be able to recieve the education they deserve. How can any parent of a special needs child look down on another?

    • Kristen
      July 6, 2011 at 4:25 pm

      Wow, that was just really negative and self serving..Obviously your situation doesnt and cant compare to the article read above so to seemingly critisize or put down or undermine the issues the parent is going through in the article serves no purpose. It’s wonderful for you that your child and situation turned out fine and dandy and that you were the “wiser” among your doctors and teachers and their professional opinions..But unfortunetely we all dont live in the world of perfect and everything falling into place. Every child in the spectrum is 100% different than the next so to even compare or whatever your point was in your post is not even…appropriate? for lack of a better word? Ok. Had to vent and share my opinion. I felt compelled too as a mother of a child who has his own set of alphabet letters attached to him as well.

    • MEB
      July 6, 2011 at 7:46 pm

      Please don’t criticize those who have identified issues with their children at an early age and acted to intervene. My daughter was ID’d with ASD at two also, and her challenges were met head on with our family and the public school system. She is now nearly 10 years old. She has made tremendous progress,but it is BECAUSE we didn’t wait to act. We all continue to work very hard to keep her progressing and can only hope for an outcome as bright as you describe. Early intervention and aggressive attention to the needs of your child will determine the best outcome….whatever that is going to be.

    • J. R.
      July 6, 2011 at 9:13 pm

      Joan, I am truly glad that all just worked out for your child. That said, I also hope that in your role as a special education teacher you offer the parents of your students support, and don’t put them down as you did in your post, which offered nothing but criticism. Frankly, I’m surprised at your career choice, since you don’t seem to think there are such things as special needs that warrent special education or services, but rather just parents who can’t “get over” their children’s differences. Thankfully, you are not my child’s teacher, Thankfully he has a wonderful teacher, who understands what he needs, and it is largely thanks to her work and the work of true special educators that he has made the wonderful progress he has. Oh, yes, and a mother and father who recognized that their child needed special education and services.

    • Vicki Guidry
      July 6, 2011 at 11:35 pm

      It’s quite a bit more than a child’s “difference” when an entire section of their DNA structure is missing, don’t you think? I have a 12 year old son who has PMS and is completely non verbal, still in diapers and extremely aggressive and self injurious at times. I don’t have the luxury of homeschooling him since I am a single mother of three and must work for a living and honestly, I am not arrogant enough to believe that I have the knowledge required to homeschool a child that requires so much special instruction regardless of the fact that I am quite an intelligent person myself. Just the fact that your daughter was able to actually graduate from high school instead of just receiving a certificate of completion is proof that you have no true concept of how severe and devastating this disorder is for most of our kids. Therefore, and I’m sure I’m not the only one who feels this way, you have absolutely no right to judge the way we handle or help our kids. As a special needs school teacher, I would think you would have more understanding and compassion for the situation instead of climbing on your self-appointed pedestal and judging those of us beneath you.

    • carrie
      July 7, 2011 at 9:08 am

      You have used this format Joanie, to boast and brag. Who cares what yor ex does or how bright he is?Rocket scientist-really.? And if you are so well equipped, then tell me, is that the advice you offer to all parents as a SPED? Or just the ones here because you can get away with it? Happy to hear your child did so.Obviously others not as lucky. Instead of being so full of yourself why don’t you offer some real,valued suggestions for parents?
      You’re the teacher who sits at the IEP meetings expressionless and offers nothing. No hope no guidance, And I am the parent you “humor.” Been there, done that…
      You are so yesterday.

    • jb
      July 8, 2011 at 3:27 pm

      Joanie,
      As a SPED teacher and a parent you are aware that it is IMPOSSIBLE to accurately assess a kiddo or a situation based on a photo and a few lines of text. While there are many similarities between Ashlynn and your family, there may be many other things that are not at all similar. Therefore, it is important to take into account this inevitable variability and know that each child and each family will have to forge their own path through treatment. And while I know you only meant to say that parents should embrace their children’s differences and not assume different means disordered, you should know that your comments read as judgemental and are potentially hurtful.

  5. Erin Dougherty
    July 6, 2011 at 3:12 pm

    I work as a music therapist with children on the autism spectrum, but I have never heard of PMS. This article was very enlightening, so thank you! Also, your daughter is absolutely beautiful, I’m so glad you were finally able to get some answers.

  6. July 6, 2011 at 3:13 pm

    Which Dr do you ask for the genetic testing? My girls have a therapist, psychologist, psychiatrist, pediatrician, neurologist and a gastroenterologist.

    • Cynthia Schauss
      July 7, 2011 at 7:09 am

      We went to a Pediatric Geneticist through a local hospital. We were referred by our pediatrician.

  7. July 6, 2011 at 3:22 pm

    This article intrigues me. My son went today for the second part of an evaluation. We are trying to figure out what is going on. He was initially diagnosed with ADHD but we now know that is not the correct diagnosis. The psychologist of course told me she has to go over the results and all the info but she said it could go either way. There are many things that say ASD but then there were things that said no. I get the “results” on Aug. 2nd but this has me wondering if I shouldn’t have some genetic testing done.

    • Cynthia Schauss
      July 7, 2011 at 7:38 am

      We decided to give genetic testing another try (we had received negative results at age 2) after having a conversation with our pediatrician. In the last 5 years the medical field has made amazing advancements in genetics. It was explained to me that a microarray done 5 years ago would be about 5 times more accurate today. FISH tests and Microarrays are finally starting to catch micro deletions. Our daughter had a lot of minor issues causing a larger global development delay. When she was 1-5 years old, she was always about a 1-1 1/2 years behind her peers developmentally. By the age of 8, her gaps have increased to about 4 years behind her peers. Her motor control and mental development come along very slowly. When Ashlyn was younger, we were always told she was too social to fit onto the autism spectrum. The older she gets, the more some of the autistic traits appear. I am excited to watch the ground breaking technology that is being applied to study Shank3, PMS, and Autism. I am hopeful this research will change our future.

  8. Nancy Holt
    July 6, 2011 at 3:35 pm

    Celebrate every victory, no matter how small, and NEVER put a limit on what you think your child can achieve….we were told our son would lack the coordination to ride a bike, yet he had his training wheels off months before his older sister, (who is normal) All the things we were told he wouldn’t or couldn’t do, he has systematically proven he CAN do. Sure, he has language & social difficulties, but he is now a healthy, happy 21 year old!

    • Noreen
      July 6, 2011 at 5:29 pm

      :) I agree! We need to look positively and then be proven “wrong” :) Its the only way to be and THRIVE in the chaos of it all. We were not sure if my son would ever talk. Then when he did, it took forever for him to put 2 words together. NOW he’s talking like crazy (some echoalic, yes for processing) but he can put together and 8-12 word sentence in his head and he is just starting to have a jump in pragmatic language! We are very proud of all his hard work and acheivements. Just recently he scored higher in his comprehension levels than his age. I could have Jumped to the Moon and we did have a “celebration dinner” too!

  9. July 6, 2011 at 4:29 pm

    Your Girl is so beautiful!!!

  10. Guest
    July 6, 2011 at 5:12 pm

    Joan-You should not be comparing your daughter to this story. First of all, it sounds like your daughter did have challenges. As a matter of fact your daughter’s story has all the red flags of a child with Aspergers. AS is often missed in girls. Usually diagnosed with other disorders like OCD, anxiety, mood issues etc….Especially many years ago when even less was known about Autism. Your story sounds exactly like many of us who have high functioning children on the spectrum. My son also had many quirks and is now thriving being homeschooled. The fact that your daughter had to be pulled does show she has differences that were more than the typical. I feel like you are in denial about your own daughter’s special needs and are rudely comparing your story to this one. I also find it scary that are you a special education teacher. I feel for the parents who have to deal with you. You must be very insenstive and judgemental.

  11. July 6, 2011 at 6:17 pm

    How do you get your child tested?

    • Cynthia Schauss
      July 7, 2011 at 9:18 am

      We went to a Pediatric Geneticist through a local hospital. We were referred by our pediatrician.

  12. James Yarbrough
    July 6, 2011 at 8:12 pm

    To Joan, yeah people should really get over their children’s differences like a genetic deletion, huh? You’ve gotta be about the dumbest teacher ever and I feel sorry for your special education students, because obviously you have no patience for them or their parents. If you’re a burnt out teacher maybe you should find another career and quit venting on a website dedicated to supporting parents with autistic children. To the Schauss family your daughter is beautiful and seriously don’t listen to foolish speech from someone who doesn’t understand your situation. I mean seriously what parent goes around looking for something to be wrong with their child? Keep fighting the good fight!

  13. J. R.
    July 6, 2011 at 9:17 pm

    What a beautiful daughter. My heart and best wishes go out to you and her and your entire family. She is lucky to have such a caring, proactive mom! Thank you for sharing your story.

  14. Leah Parker
    July 7, 2011 at 1:07 am

    Thanks for putting this up. I’m going to take this information to my son’s Dr. next week and see if we can get some testing done. The only genetic testing that they have ever done on him was for fragile x, which we were already pretty sure he didn’t have. When I looked up PMS, I also noticed that they listed sleep issues as being one of the problems and I was recently doing some research for a class and found they they think that in some cases of autism, their may be an issue with a gene that makes an enzyme that helps with melatonin synthesis. Since melatonin is what makes us sleepy (and has been found to have a role in neural plasticity), they were investigating it because sleep issues can be so prevalent with autism.

    • Cynthia Schauss
      July 7, 2011 at 9:15 am

      Fragile X was part of the initial round of genetic testing Ashlyn had done when she was 2! Sleep issues are a big part of PMS. Ashlyn did not sleep through the night until the age of 5. She would wake up 2-3 times each night crying. PMS children have such a wide variety of symptoms and deletions that it is so hard to compare. A good portion of the children have sleep issues, yet others do not. Most all children have absent or delayed speech. Most have motor delays or impairments of some sort when it comes to developmental milestones. A good portion of the children has trouble potty training and dressing (daily living skills). Check out http://www.22q13.org under the medical link. This is the website for the PMS Foundation and they do a good job of explaining the medical characteristics.

  15. July 7, 2011 at 10:36 am

    I’ve never heard of the disorder your daughter suffers from, but I think that it’s wonderful that you are sharing your story. There are thousands of individuals with ASD’s that have co-existing condtions, and some of these conditions NEVER get diagnosed. I am the parent of a daughter with an ASD and a rare genetic disorder called Joubert-Nephronophthisis. We didn’t know that our daughter had this condition, until – at the age of 17 – she was diagnosed (quite shockingly) with End Stage Renal Disease. She required a kidney transplant, as the doctors told us she had less than two months to live .I guess the point to telling all of this is, many individuals with ASD’s have behavioral issues, and quite a few are non-verbal. It’s almost impossible for them to tell anyone what is troubling them. In our daughter’s case, she would often self-abuse and throw things around, to gain our attention. Little did we realize, that she was try to tell us she was ill and needed help. This is a huge issue with everyone that our family has come into contact with in the Autism community. You MUST be the voice of your child and advocate for them, no matter what anyone thinks. I applaud you for doing so.

  16. sandra fletcher
    July 8, 2011 at 1:23 pm

    I usually don’t write any comments back on what I have read, and I would never comment or put down anyone for anything they do for their child in any way. My son Chris is 27 years old. And when he was finally diagnosed(after hearing for years there is nothing wrong you are just being over protective) at the age of 6 years as being DD. He wasn’t found to be autistic until 14 years. My son started reading(not memorising) at 3 years old but could not carry on a conversation. He is lay back, very passive(if you step on his foot he will say he is sorry for being in your way) he is very likable makes jokes and understands now when you are kidding around with him. Until he was 8 years (because of sensory defensiveness) he ate very sparingly and only one type of food for months at a time. His special ed teacher was able to help with his eating at school and than transfering him for home. My son now weighs 195 pounds and its hard to believe he almost died from malnutrtion because no one believed. His special ed teacher Rita Joyce was an angel sent by God. He was with her for 10 years, it was the only way to go in Buffalo at that time. There was nothing available. The reason for my comments? My son at 27 continues to progress at a steady pace. But years ago there wasn’t much. Take advantage of everything available now. Early intervention is the key. And no I’m not a rocket-scientist I work in a school cafeteria.My daughter is a senior in college and is a 4.0 across the board from freshmen year. My point is I could have been a “rocket-scentist” but my children came first and I have not regretted one second of it. Hang in with your kids, do over and above your best, be their advocate, you are all they have. This is their world too. I made the world adapt to and for my son. If that made me seem nasty and pushy to bad. ITS THEIR WORLD TO. Sometimes I think more so, than ours.
    thanks for listening

  17. July 8, 2011 at 5:43 pm

    I’m 61 years old and only 5 years ago received a diagnosis of PDD, which includes autism and AS. But the psychiatrists didn’t want to actually use one of the the “A” words. The DSM (psychiatric reference manual) says that autism shows up in very early childhood, so they couldn’t actually say I had it, since they did not have records from my childhood. Anyhow, we “unofficially” talked about it. I have been working very hard in the past 5 years to understand what it is all about, this set of difficulties that have plagued me all my life. I want to know why I gave 100 percent of my effort and yet could never keep a job, having had about 100 in my lifetime, in spite of having college degrees (with a 4.0 average–I’m not bragging–this has actually made employers call me “over-qualified”). When I was a child, nobody talked about autism, and Asperger was an unknown name in some remote, dusty journal overseas, I think. It does me no good to wonder what my life might have been like if I could have received help earlier. I’m happy that progress has been made in understanding and in helping today’s children. For me, I am doing all I can to accept my differences and to overcome those differences in ways that matter to other people. It’s not easy, but it’s better than not knowing and always wondering why people thought I was lazy or rude when I knew I was trying so hard to please. Now I know that my brain processes information differently, so I can try to figure out how someone “normal” would think.

  18. Melody
    August 9, 2011 at 12:52 am

    This sounds like my 8 yr old son! Right now we are waiting on a diagnosis of PDD NOS. I am wondering after reading this, if we need to do more genetic testing. I want the right diagnosis so he can succeed in life to his full potential. Thank you for sharing your story!

  19. Jolene
    October 14, 2011 at 9:15 pm

    I find it strange that my 3 year old has been said to have a lot of traits of an Autism Spectrum Disorder, Asperger’s but nobody seems to be able to figure him out!

    Perhaps I too, should look into this genetic testing. I am not sure how to even go about this. Can any one explain that? Will it go off of soley my child’s DNA or mine and his father too?

    • Cynthia
      November 3, 2011 at 5:32 pm

      The DNA tests (a microarray or FISH) are done with a genetic doctor. Your ped could probably recommend someone in your area. It is based soley off your child’s DNA. After our daughter tested positive for the SHANK3 deletion, we had the rest of our family tested (myself, husband, and son). We were all negative. My daughter had a denovo deletion…meaning it just sort of happened on it’s own. My daughter is very social, but has many autistic traits…especially in her play and social interactions. Although she is social, she is not always socially appropriate! She has severe global developmental delay. We kept insisting it had to be something more. She had too many issues with too many different parts of learning and coordination. We are very lucky. Our daughter is doing fairly well…considering. Her school is fantastic and really gives the extra effort to help her along. Learning is always going to be difficult for her. I know that will continue to be our biggest struggle.

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