By: Alycia Halladay, Ph.D., Director of Research, Environmental Health Sciences
As the average age at which early signs and symptoms of autism and diagnosis moves becomes younger and younger, methods for intervening at autism at the earliest possible ages are becoming more widely used. At this year’s IMFAR meeting, several clinicians and researchers addressed differences in design, methods, and identified challenges and potential solutions for delivering intervention from individuals with ASD as young at 10 months of age. Since this is when very early symptoms of ASD can be detected, but not yet diagnosed, many are considering this as a method of prevention rather than intervention. A feasible and cost-efficient way to provide interventions to infants and toddlers is to engage parents and train them to use behavioral techniques to improve development. What works for adolescents and adults does not apply to infants and toddlers. Instead of spending time working on specific tasks and skillsets, clinicians work with parents and provide ongoing support to engage children in social, communication and motor skills during playtime activities. But does this prevent ASD?
The simple answer is that it is very complicated. As reported in an earlier report, one size does not fit all. There may be a number of variables that affect outcome. In addition, last year, a report out of the UK last year reported that parent-mediated interventions did not result in a change in diagnostic status in young children. This same group showed new data at IMFAR this year showing that the intervention was effective in some ways – infants showed increased attention and gestures as well as improved shared interest. These early improvements are thought to lead to a higher level of functioning later on.
Children with ASD suffer from impoverished social interaction, and parents can be instrumental in providing stimuli to their children to change behavior. Most interventions now focus on encouraging parents to actively engage the child using evidence based strategies, in natural environments. Other types of interventions that were used included promoting behaviors and responsiveness in the context of everyday routines.
Given that published research don’t actually prevent ASD, but improve long-term outcomes, is the goal of early interventions to reduce the incidence of ASD? Alice Carter, member of the Autism Speaks Toddler Treatment Network noted that earlier screening and delivery of parent interventions which improve joint attention, and coordinated attention between parent and child – may prevent symptoms down the road, but may not always lead to a change in diagnosis. She stated “working with parents can make a huge difference in many children’s lives.”
Improved outcome measures which are more sensitive to improvements over time on a number of domains need to be developed to better describe these differences. In addition, working with a young child at home is difficult in any situation, and especially for families affected by ASD. Therefore, methods and techniques to maximize the amount of time parents deliver effective interventions are considered a priority. Autism Speaks is proud to sponsor this network in thinking about these important issues.
What is mitochondrial disease? How often does it occur in individuals with ASD? Are their effective treatments?
“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community. We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and the Autism Speaks Science staff will address the other themes we received in this weekly post.
Mitochondrial disease is caused by an error in the functioning of mitochondria, which are essential energy-producing compartments of nearly every cell in the body. Certain mutations can cause the mitochondria to function inefficiently. These mutations can be within the mitochondria itself, with its own small circle of DNA, or within the nucleus where the rest of the cell’s DNA resides. Over 1500 genes carry some part of the recipe for the optimal functioning of mitochondria. This means that there are many ways for mitochondria to function imperfectly but there are also complex means available to mask a deficit by altering some of the other protein interactions.
Mitochondria are responsible for the process of oxidative phosphorylation that turns nutrients into energy through a series of stages involving complexes of enzymes. A break at any particular stage results in an atypical balance of metabolites in affected body tissues and fluids.
Most people consider mitochondrial disease to be one of a growing number of disorders caused by a defined set of mutations and presenting with a set of characteristics that typically involve three or more organ systems. However, mitochondrial disorders are often diagnosed when no mutation is found despite observations of metabolic signatures of mitochondrial dysfunction. The symptoms may also be more mild.
We do not have a firm estimate of mitochondrial disease in ASD. However, if we use the broader definition of mitochondrial disorder then according to a population-based study in Portugal, there may be as many as 4% of the ASD population affected. Autism Speaks’ research is addressing this and related questions through a grant to Cecilia Giulivi, Ph.D. at UC Davis and also through a collaborative research project at UC Irvine and UC San Diego.
There is currently no cure for mitochondrial disease or disorder. There are, however, treatments and practices that can improve the quality of life and slow the progression of the disease. The most effective treatments are for specific symptoms that tend to accompany mitochondrial dysfunction such as seizures treated with anti-convulsants. Regular exercise, a healthy diet, stress and extreme temperature avoidance are among the common recommendations. Some dietary and supplement regimes have anecdotal support but there is a need for empirical studies to test the efficacy of these therapies.
For more information, please visit the United Mitochondrial Disease Foundation (UMDF) website. Also, read our report on a joint Autism Speaks’ supported symposium at the annual UMDF meeting.
IACC Services Workshop: Building a Seamless System of Quality Services & Supports Across the Lifespan
The Interagency Autism Coordinating Committee (IACC) will hold an IACC services workshop, “Building a Seamless System of Quality Services & Supports Across the Lifespan” on Monday, November 8 in Rockville, Md. The meeting is free and open to public and will also be available as a live videocast.
The workshop will focus on policy issues related to the system of services and supports for people with autism spectrum disorders and their families. Visit the IACC website for more details.
This guest post is by Elaine Hall, author of the memoir NOW I SEE THE MOON: A Mother, a Son, a Miracle and founder of The Miracle Project, a theatre and film arts program for children with special needs. She is also the mother of a fifteen-year-old son with autism. Discuss the book on Facebook and follow Elaine on Twitter @CoachE.
Tip # 7 Staycations: Same place, different experiences. Customize!
When I was a child we went on a family vacation every year, usually to the beach. One year, our finances were particularly low and we couldn’t get away – so my dad made a fun time of “Vacation at home!” My dad and mom set it up so that each child and parent got “their day,” and the other family members went along. My dad’s choice was fishing at a nearby lake, my mom, “vegging” out at a local pool, my brother chose an amusement park, my sister a movie, and I chose going to an art museum. This special week stands out in my memory as one of the best vacations in my life.
Let your child be part of this planning process. Use a dry erase pad and write down possible ideas. Let your child circle or point to where they would like to go. For kids who are nonverbal – there is a new app for the iPad called Proloquo 2Go, which “provides a full-featured communication solution for people who have difficulty speaking.” Find what communication system(s) work best for your child so that your child with ASD can have a voice in choosing where they wish to go. Let each child feel special. If possible, you can bring along a teen volunteer to help out. For moms – maybe your special day can be going ALONE to a spa day, while the rest of the crew has a picnic. Refuel. It matters.
AMC theaters now offer Sensory Friendly films where our kids can walk up and down aisles, make noise, and just be themselves.
Tip #8 Get a special pass when you go to an amusement park (or other busy venues like concerts, plays, etc.).
Some children with ASD love amusement parks; some find them too stimulating or overwhelming. Again, preparation is the key to success. Before taking Neal to Disneyland, we showed him photos, went online and let him do a virtual tour. Once we arrived there, we had a pretty good idea of what he wanted to do. Remember too that your child’s interests may seem odd but they are his or her interests. (Neal could go on Space Mountain 10 times!)
Most of the major amusement parks have a special disability pass where your child and family members do not have to stand in long lines. Don’t be proud! Get this pass! In fact, Neal is one of the most popular kids on our block, when it comes to going to Magic Mountain, his now favorite amusement park, since everyone in his party doesn’t have to stand in line!
Tip # 9 Enjoy the great outdoors.
Neal loves to be outside. I have seen him the happiest when he can be out all day long. Go camping, to the beach, hiking, have picnics, do things where your child can feel boundless with few opportunities to have to say “No,” or manage inappropriate behaviors. Today there are many outdoor programs that families with special needs can enjoy:
Tip #10 Be Here Now (wherever “Here” is that day)!
Give yourself the present of being Present. Enjoy this precious moment. I once attended a family surf camp where the dad had spent hours preparing his son for surfing: practicing standing on a surfboard, paddling in a pool, etc. However, once at the beach, his son was so excited about being in the ocean, that he just wanted to play and dance in the waves, he didn’t want or need to surf as planned. The dad moped on the beach, feeling this situation as one more failure. I suggested that he stop for a second and look at his child who was in complete joy. The father soon realized that it was his own need for his son to complete the task at hand, rather than enjoying the moments with his son. He realized as we all do from time to time, that the gift of the present is sharing time, experiences, and engagement with each member of our family … in their own special way, and in their own special time.
As I look back, even that first seemingly “failed” beach trip where my mom and Neal spent time on the patio together, was actually a beautiful bonding time between grandchild and grandmother.
Enjoy the moments. Yesterday is gone, tomorrow is a mystery. Today is a gift that is why it is called the Present.
Vacation is in part, a state of mind.
Enjoy your summer. And please let me know how your vacation goes!!!
This guest post is by Susan Schober. Susan is a 4th year Ph.D. Electrical Engineering-Electrophysics student at the University of Southern California (USC) Viterbi School of Engineering and a mother to a young daughter with autism.
Eva and I
I was searching for answers to my questions. Will she ever speak? Will she have a normal life? What can I do to help? What caused this thing called autism? What about her future? I read tons of books and searched the internet for some kind of direction. I felt totally lost. Helpless. Confused. Sad. I was even embarrassed to tell people. In fact, only people I absolutely trusted knew my secret: my three-and-a-half-year-old daughter, Eva, was diagnosed with non-verbal autism.
After Eva’s first birthday, which was filled with presents, laughter, and friends, she came down with a fever that lasted for two weeks. Her words and eye contact left at this time, never to return. Her big beautiful brown eyes developed a glassed-over look. Where was the little girl with the rosy cheeks that smiled and giggled constantly? All that remained was an unresponsive child that stared at our ceiling fans or at the leaves blowing in the trees. She acquired weird habits like her love of collecting anything plastic, especially gift and credit cards. More recently, she became obsessed with computers and anything electronic.
Her current fascination is fine with me though, as I myself am a Ph.D. Student in Electrical Engineering (EE) at the University of Southern California (USC). At USC, I am completing my doctorate in Ultra-Low Power Radio Frequency/Analog Integrated Circuit Design.
One of the first challenges occurred when Eva was one and a half years old. She was referred by the Regional Center of Orange County to OCKids for a diagnosis. It was pure luck that Eva was to see Dr. Pauline Filipek, who is a specialist in autism spectrum disorders (ASD). Dr. Filipek’s nurse, Teri Book, who would eventually become a great friend, was in charge of scheduling the barrage of tests – which including blood work, EEGs, EKGs, hearing, vision, ultrasound for gastrointestinal issues, and genetics – that followed to get a more accurate picture of what was going on. The official diagnosis came in a 40-page report a few months later. I read it over and over with tears in my eyes.
Eva’s Early Start program started soon after. Her therapies included physical, speech/language, Occupational Therapy (OT), and Applied Behavioral Analysis (ABA). My mom would always joke that Eva had a full-time job as her work schedule would last 25-30 hours a week, on average. It was hard seeing her frustrated, but we stuck with the program. She slowly learned basic sign language and worked with the PECS (Picture Exchange Communication System) to organize her daily activities.
On one of her follow-up appointments with Dr. Filipek, the doctor tried to get Eva to look in her eyes. This was no easy task. However, Filipek would not give up and finally Eva gave in. Eva looked in Dr. Filipek’s eyes for a brief second, and cracked a big smile—the first smile in a year. I almost fell out of my chair. Dr. Filipek whipped around and looked me square in the eyes and said, “There IS a little girl in there wanting to get out. It is OUR job to help her.” That was all the fuel I needed to start my quest to find a way to help Eva overcome autism.
It was by chance that I met Professor Olga Solomon and found that USC had a wide variety of research interests in helping those with ASD. That chance came in September 2009 in the form of an email forwarded to the Electrical Engineering Department at USC’s Viterbi School of Engineering where I study. That email was titled: “SEMINAR: Enhancing and Accelerating the Pace of Autism Research and Treatment: The Promise of Developing Innovative Technology by Matthew Goodwin.” When I received that email, I did a double take. It was addressed to my USC account and it said the word “autism.” I thought by accident I had gotten one of my many autism related newsletters or therapist’s emails in the wrong account for some reason. But when I read it for the third time, I realized that yes, there was a scientist coming to USC to speak about integrating engineering techniques into research on autism. I thought it so strange and beautiful. I had to go.
At the end of this eye-opening seminar, Dr. Solomon announced that she would teach a class in the Spring 2010 semester titled “Innovative Technology for Autism Spectrum Disorders” funded by Autism Speaks. The course would unite the fields of engineering, occupational science, neuroscience, psychology, anthropology to give a full view of the technological advances in the world of ASD. Every week, the students would read articles about ASD science and technology, blog about the readings, and invite the authors to present their research in the class. The course was too good to be true. I believe I was the first person to sign up.
The students came from a mix of backgrounds, including engineering, computer science, and occupational therapists. I struggled with being open about the fact that I was a mom of a daughter with autism. When it was my turn, I blurted it out. This was the first time I had ever told people I did not know about Eva’s autism and it was therapeutic. This small action opened the door for me to use my engineering background coupled with the knowledge that comes with being a parent of a child with ASD. I was so happy; I was not embarrassed anymore. I was here because of my unique experience and my desire to help and to find answers and solutions.
The first few weeks were dedicated to making sure the students had a strong foothold in what ASD was and what current methods exist to aid those with autism. The first speaker was Portia Iverson and we read about her experiences raising her son with autism through an excerpt from her book “Strange Son.” I was so touched by the passage that I wrote in my blog that I was going to buy the book and finish reading it.. The class day came and I received the most touching gift: Dr. Solomon obtained a copy of the book and had Portia sign it for me personally. I read the book in two days.
Each week following the first, the class had wonderful speakers; these included my favorites: Shri Narayanan – a well known Electrical Engineer who deals with speech and signal processing techniques, Skip Rizzo – a Virtual Reality (VR) guru, and Gillian Hayes, who works in pervasive computing for ASD. After each talk, I made every effort to speak with the lecturers in order to ask questions and broaden my knowledge. Most importantly, I wanted to say “thank you” and shake their hands. I had such an overwhelming feeling that in order to solve the puzzle of autism, every approach, story, and effort was an important piece to be considered in the autism equation.
At the end of the semester we worked in teams with mixed backgrounds to develop an innovative idea to apply to the field of autism. My group’s project was to develop an interactive VR and pervasive computing program to help diagnose children with autism living in rural areas where there are not enough resources or doctors on-site to make a diagnosis. We collectively wrote a grant proposal which, if accepted and funded, could be applied to disaster areas like that of Hurricane Katrina or Haiti. Using technology such as video and wireless sensors to gather data (including heart rate, sound, and body movement), the VR system could be set up in a remote area and used by a doctor or trained therapist at another location to make an initial assessment for a child suspected of having autism. This, in turn, would allow that child to receive an accurate diagnosis, including a recommendation for therapy or medical attention as needed. Not all families are as lucky as I was to live in an area with access to top doctors, therapists, and research facilities dedicated to autism. Hopefully, with a portable system like the one proposed, costs, such as travel expenses and doctor fees, can be greatly reduced and children suspected of having ASD can receive effective treatment quickly.
Now that the class is over, I can look back and confidently say I am so grateful for the experience and connections I have made though the semester. The autism technology course has opened a whole new world for me. I signed up for the class because it intrigued me for the obvious reasons. I wanted to know more about autism and what was out there that could possibly help heal my daughter. What Dr. Solomon’s course gave me was a basic, yet solid understanding of autism and a way in which I could personally contribute my engineering skills and unique background to forming innovative technologies to improve the lives of individuals with ASD. Looking forward, I would love to continue to further my research in ASD technologies using both my insight as an engineer and a mom of a child with autism.
TUNE IN – “Growing Up with Autism” webinar
Tuesday, April 27, 1-2 p.m. EDT
Join a panel of scientists, parents, and individuals with an autism spectrum disorder (ASD) to learn what it is like “Growing Up with Autism.” Dr. Geraldine Dawson, Ph.D, the Chief Science Officer at Autism Speaks and Research Professor at UNC Chapel Hill will lead a discussion with Connie Kasari, Ph.D. (UCLA), Holly Robinson Peete, and John Elder Robison, to address the challenges that face individuals with an ASD and their families as they are initially diagnosed, navigate peer interactions and age out of services as they enter adulthood.
The panelists will also focus on the different needs and abilities individuals with an ASD have in the hope of generating acceptance and support in the community. This poignant webinar will combine professional experts with personal experience to offer unique insights and perspectives that will be valuable to all who are touched by this increasingly common spectrum of neurodevelopmental disorders.
To register for the free webinar, please visit https://www1.gotomeeting.com/register/563407008.
Stay informed about “This Emotional Life’s” on-going webcasting events with thought leaders in the fields of mental health and wellness by signing up for their bi-monthly newsletters.
If you miss the webinar, we will have information soon about how you can view it. Please stay tuned!
This guest post is by Simon Wallace, Ph.D., Autism Speaks’ Director of Scientific Development – Europe.
The European autism community recently came together in Luxembourg to discuss how to improve knowledge, awareness and care for individuals with autism spectrum disorders (ASD) and their families. The meeting was grandly titled “An Expert Panel on Autism” and was supported by the European Union’s Department for Health (DG SANCO), with many of the practical arrangements being made by Autism Speaks and Dr Alvaro Ramirez from the European Autism Information System project.
There was a broad representation from the European community, with stakeholders from as far east as Greece and Romania, as far west as Ireland, as north as Norway and as south as Italy. The main focus was on developing a strategic direction for the continent on public health and ASD, and so the delegates were selected to represent expertise in research, clinical services, advocacy/awareness, policy and surveillance/data collection. It is striking how diverse Europe is in terms of its social and economic levels and needs, meaning that some recommendations can be broad but they must also be tailored to the various European “contexts.”
On the first day, the group heard presentations from DG SANCO who set out their commitments to ASD and a roadmap of how that should be met. Of particular resonance was the statement that, especially in economically difficult times, there is not a need for necessarily more but for better and that partnerships are the key for the European community to make progress. There is a plan for ASD to be kept as a priority in the upcoming EU health program (running from 2013-2020), which would provide greater welfare to individuals with ASD and their families in Europe, but it was made clear that autism advocates should begin a lobbying program to ensure such a commitment.
The remainder of day one included a series of presentations and discussions to “set the context” on the current landscape of ASD across Europe; to identify where there are particular challenges and where there is an opportunity for the European community to work to its unique strengths. Some of the highlights included the need to develop platforms for research and services for adults with ASD and to consider the benefits of parent-mediated approaches to intervention for children. Also discussed was that some services available to families in Europe were neither evidence-based nor properly scrutinized.
On day two, the Expert Panel divided into small groups to discuss a European strategic plan on the areas of research, clinical services, advocacy/awareness, policy and surveillance/data collection. There were a number of recommendations from these sessions, including the need to: use special European populations in research (e.g. genetically isolated or migrant populations); train professionals using standardized protocols; write national standards in treatment and diagnosis; conduct more prevalence research to calculate a European accepted figure; produce a pan-European awareness campaign.
Autism in Europe is steeped in history with many of the parental organizations looking to soon celebrate their 40th or 50th anniversaries. One of the main challenges for the European community is how to manage the complexities surrounding the very different paths each country has taken in the way they define, manage and advocate for individuals with ASD and their families. A clear message from the meeting was that improvements can be made if the goals for the European community are set out (through a summary document of the Expert Panel being published), we are able to raise autism awareness and reduce stigma, and we can disseminate information on models of best practice. Successes are being made, with national strategies recently being published in the UK and Hungary, but our autism community in Europe has still much work to do in terms of understanding how we can play to our strengths and find solutions through partnership and information sharing.
Most attendees left the meeting feeling that they’d taken part in beginning to set a vision for autism in Europe. We will draw on the momentum and enthusiasm from Luxembourg and take that into further meetings planned in Budapest and Mallorca, with the final strategic document on autism in Europe to be presented to the EU in November.