While we work to change the future for those who struggle with autism, the Family Services Team is committed to addressing the daily challenges people with autism, their families, and caregivers face today.
Living with autism is often accompanied by a profound sense of isolation and helplessness, for the individual with autism as well as the family. “It is important that families can connect with us, quickly get the information they need, and that they recognize the power of their own advocacy,” states Marianne Sullivan, Assistant Director of National Outreach and Resources.
The Family Services Team supports families by connecting them to resources and information, enabling them to make informed decisions. Information is a powerful tool; it can lead to dramatic improvement in the outcome and quality of life of an individual with autism.
Resources for all Ages
The Autism Speaks online Resource Guide is one of the largest databases of autism resources in the country with more than 36,000 entries and information from all over the United States. Searchable by state or by zip code, resources are organized into over 35 categories.
An online Resource Library provides a variety of autism related information and reference materials including books, blogs, catalogs, and tool kits as well as resources for Spanish-speaking families.
Age-related resources are organized into three categories in the Family Services section of the Autism Speaks website: Diagnosis /Intervention (0-3), School Age/Youth (3-22) and Young Adult/Adult (22 years and older).
A family can quickly get to the information that is relevant to their loved one. We realize families are busy people, short on time, and want to put their finger on information that typically has to do with an individual’s age.
Autism Response Team (ART)
Families have the opportunity to contact the Autism Response Team (ART), who are specially trained to talk and email hundreds of families each month. An ART coordinator can be contacted through a toll-free number, 888-AUTISM2 (288-4762), or by email at firstname.lastname@example.org
Tool Kits are free and available to download online
100 Day Kit, available in English and Spanish, provides information for families whose child has recently been diagnosed with autism.
Asperger Syndrome/High-Functioning Autism Tool Kit is also available
School Community Tool Kit provides information and resources for general education and administrative school staff to support a positive school experience for children with autism.
Talking to Parents about Autism: Action Kit contains tools to help initiate the critical conversation with parents if someone suspects their child may be exhibiting early signs of autism.
Transition Tool Kit serves as a guide to assist families on the journey from adolescence to adulthood.
To learn more about additional resources available to the autism community join us for a Live Chat on Wednesday, May 25th at 3:30 EST
A powerful film directed by Emmy Award® winner Janet Grillo, FLY AWAY narrates the story of Jeanne and her autistic teenage daughter, Mandy. Jeanne has cared for Mandy since the day she was born, growing closer every day to a child who is charmingly offbeat one moment and nearly impossible to manage the next. In the dog park, Jeanne encounters Tom, an easygoing and accepting neighbor who sparks a romantic interest, but she finds juggling Mandy’s care and her own career leaves little room for a new man. As the pressures of work and her child’s needs increase, she must decide whether or not to enroll Mandy in a therapeutic residential facility. Over the course of a few weeks, Jeanne is confronted with the most difficult decision a parent can make: to let go, allowing her child to grow, but also grow apart; or to hold on tight and fall together.
Beth Broderick and Ashley Rickards discuss how their off screen friendship and respect created the onscreen intimacy and bond between mother and child.
Here is the theatrical trailor
FLY AWAY’s narration of teenager with autism is relatable for many families. The Autism Speaks Transition Tool Kit was created to serve as a guide to assist families on the journey from adolescence to adulthood. For more information, visit here.
“FLY AWAY is now available nationally on DVD for sale/rental/streaming, or on VOD.” For info contact http://www.flyawaymovie.com, 10% of proceeds benefit Autism Speaks.
New Video DVD: http://www.newvideo.com/flatiron-film-company/fly-away/
TimeWarner Video on Demand:http://goo.gl/aykS2
This is a response we received from a young man with Asperger’s Syndrome who received an Autism Cares grant.
The Autism Cares Grant help me to establish some independence and get back on my feet. I’ve been struggling as I try and navigate life on the autism spectrum. For a while I was letting my struggles affect me in other areas of my life. I was taking all of the negative things in my life out on other people. The Autism Cares grant not only helped me pay my rent and give me a nice place to live for 4 months it is going to help me get other areas of my life up and going the way that they should be. I’m very excited and appreciative of the Autism Cares grant and know that it will be put to good use. This will allow me time to get on my feet and try and find a good job for me. I have Asperger’s Syndrome and I really want to become as independent as I can and it’s something I am working on doing. My parents were losing their house so I was going to be left without a place to stay. The Autism Cares grant helped me help my parents save their house so not only myself but my entire family could keep a roof over their head as well. I’m now able to pay my parents rent I owe them for 4 months thanks to the Autism Cares grant. Thank you to everyone at Autism Speaks.
To learn more about our Autism Cares program, visit www.autismcares.org. For more information on transition and independence for young adults and adults with autism, check out our transition tool kit!http://www.autismspeaks.org/community/family_services/transition.php
by Alycia Halladay, Ph.D, Director of Environmental Science
Research using identical and fraternal twins is typically used to identify genetic influences on the development of ASD. This year, researchers studied a large group of twins and examined the concordance of different types of symptoms (1). Using this approach, the researchers found that the concordance of severe autism between identical twins and fraternal twins was about the same, indicating a strong environmental component to ASD severity. But what are those environmental factors? Epidemiological studies are providing clues.
At this year’s IMFAR, new data was presented that focused on studying groups of people and their exposures to a number of environmental factors. Each used different designs with their own unique advantages. For example, at UC Davis, the CHARGE study (www.beincharge.ucdavis.edu) examined the risk of developing autism following exposure to a number of factors that were identified through self report or medical records. Those that showed an association were antidepressant SSRI use (2) and metabolic disorders including hypertension and diabetes (3). On the other hand, a previously identified factor, maternal infection, was not associated (4). Why not? The researchers suggested that fever, not infection per se, may be a factor. Using self-report and medical records obtained prior to study entry may not accurately capture all relevant information, and an infection or fever may be missed in some reports. However, other types of information, such as method of birth, is easier to gather accurately. An analysis revealed that non-emergency or elective c-section deliveries did not show a significant association with autism, addressing a concern that many public and community stakeholders have expressed (5).
As an alternative to retrospective reports, the Early Markers of Autism Study in California is obtaining samples of blood from pregnant women by obtaining extra blood taken during the alpha-fetal protein screen that is banked. Not all states bank these samples for research, so this is a unique resource. By examining the levels of mercury in blood taken during pregnancy together with newborn blood spots, the researchers can get a more comprehensive picture of the prenatal environment. They reported no difference in mercury levels compared to those of non-affected children during gestation, and also reported no difference in thyroid hormone levels (6,7). Examination of subgroups of autism with regression did not change the results. While these data are incredibly novel and valuable, these studies were not designed to capture information throughout the entire pregnancy nor capture factors after birth
Another way to study exposures during pregnancy is through birth certificate data. In some states, the birth certificate contains information such as the place of birth and the occupation of the mother and the father. Using this information, scientists found that occupational exposures in mothers to certain chemicals resulted in an increased risk of ASD in offspring (8).
While each approach brings unique strengths, all researchers agree that the most comprehensive way to capture all information accurately, is a prospective design. This means identifying children as soon as possible and following them from that point on to gather every piece of relevant information from medical reports to blood samples. Autism Speaks is proud to co-sponsor such a study: the Early Autism Risk Longitudinal Investigation (EARLI). This groundbreaking project will provide even more answers to what causes autism, and needs the help of the community to do so.
So how can researchers blend or expand their research if they are using only one type of design? Autism Speaks and the National Institutes for Environmental Health Sciences are sponsoring a network of projects called the Environmental Epidemiology of Autism Research Network (EEARN). The goal of this network is to improve communication among researchers in this field, identify opportunities for collaborative projects and improve research tools for both existing, and new projects. Over 20 studies from 8 countries are represented in the network. We will keep you updated on the activity of the network, and we hope you will keep checking in for updates.
1. Understanding Clinical Variability In Autism: Results From a California Twin Study. W. Froehlich*1, S.
Cleveland1, A. Torres1, J. M. Phillips1, B. Cohen2, A. Fedele3, T. Torigoe2, J. Collins4, K. S. Smith5, L. Lotspeich1, L. A. Croen4, S. Ozonoff6, C. Lajonchere7, J. K. Grether5, N. Risch8 and J. Hallmayer1, (1)Stanford University, Stanford, CA, (2)Autism Genetic ResourceExchange, Los Angeles, CA, (3)Autism Speaks, Westmont, NJ,
United States, (4)Kaiser Permanente, Division of Research, Oakland, CA, (5)California Department of Public Health, Richmond , CA, (6)UC Davis MIND Institute, Sacramento, CA, (7)Autism Speaks, Los Angeles, CA, United States, (8)University of California San Francisco, San Francisco, CA
2. SSRI Use During Pregnancy and Risk of ASD or Developmental Delay In Children. R. A. Harrington*1,L. C. Lee1, C. K. Walker2, R. L. Hansen3, S. Ozonoff3 and I. Hertz-Picciotto4, (1)Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, (2)Department of Public Health Sciences, University of California at Davis, Davis, CA, (3)MIND Institute, University of California at Davis, Sacramento, CA, (4)Department of Public Health Sciences, University of California Davis, Davis, CA
3. The Role of Maternal Diabetes and Related Conditions In Autism and Other Developmental Delays. P. Krakowiak*1,2, A. A. Bremer3, A. S. Baker1, C. K. Walker1,4, R. L. Hansen2,3 and I. Hertz-Picciotto1,2, (1)Public Health Sciences, University of California, Davis, Davis, CA, (2)M.I.N.D. Institute, Sacramento, CA, (3)Pediatrics, University of California, Davis, Sacramento, CA, (4)Obstetrics & Gynecology, University of California, Davis, Sacramento, CA
4. Prenatal Influenza or Fever and Risk of Autism/Autism Spectrum Disorders. O. Zerbo*1, I. Hertz- Picciotto2,3, A. M. Iosif4, R. L. Hansen5,6,7 and C. K. Walker8, (1)Sacramento, CA, (2)University of California, Davis, Davis, CA, (3)Department of Public Health Sciences, University of California Davis, Davis, CA, (4)UC Davis, Davis, CA, (5)University of California, Davis, MIND Institute, Sacramento, CA, (6)MIND Institute, University of California at Davis, Sacramento, CA, (7)MIND Institute and Dept. of Pediatrics, University of California Davis, Davis, CA, (8)Department of Public Health Sciences, University of California at Davis, Davis, CA
5. Cesarean Birth and Autism Spectrum Disorder. C. K. Walker*1, P. Krakiowiak2, A. S. Baker3, R. L. Hansen4, S. Ozonoff5 and I. Hertz-Picciotto6, (1)Obstetrics & Gynecology, UC Davis, Sacramento, CA, (2)Public Health Sciences, UC Davis, Sacramento, CA, (3)Public Health Sciences, UC Davis, Davis, CA, (4)Pediatrics, M.I.N.D. Institute, UC Davis, Sacramento, CA, (5)Psychiatry and Behavioral Sciences, M.I.N.D. Institute, UC Davis, Sacramento, CA, (6)Public Health Sciences, M.I.N.D. Institute, UC Davis, Davis, CA
6. Prenatal and Neonatal Peripheral Blood Mercury Levels and Autism Spectrum Disorders. L. A. Croen*1, M. A. Lutsky1, C. Yoshida1, C. P. Alaimo2, M. Kharrazi3, J. K. Grether4 and P. Green2, (1)Kaiser Permanente Division of Research, Oakland, CA, (2)Civil and Environmental Engineering, Univ. of California Davis, Davis, CA, (3)Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, (4)California Department of Public Health, Richmond, CA
7. Prenatal and Neonatal Thyroid Stimulating Hormone Levels and Autism Spectrum Disorder. M. A. Lutsky*1, C. Yoshida1, B. Lasley2, M. Kharrazi3, J. K. Grether4, G. Windham4 and L. A. Croen1, (1)Kaiser Permanente Division of Research, Oakland, CA, (2)Department of Population Health and Reproduction, UC Davis, Davis, CA, (3)Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, (4)California Department of Public Health, Richmond, CA
8. Autism Spectrum Disorders In Relation to Parental Occupational Exposures During Pregnancy. G. Windham*1, J. K. Grether2, A. Sumner3, S. Li4, E. Katz5 and L. A. Croen6, (1)California Department of Public Health, Richmond, CA, (2)California Department of Public Health, Richmond, CA, (3)Vermont Department of Health, Burlington, VT, (4)Kaiser Permanente Divison of Research, Oakland, CA, (5)Occupational Health Branch, CA Department of Public Health, Richmond, CA, (6)Kaiser Permanente Division of Research, Oakland, CA
by Geraldine Dawson, Ph.D., Chief Science Officer, Autism Speaks
In San Diego last week, The International Meeting for Autism Research (IMFAR) celebrated its 10th anniversary. Only a decade ago, prompted by parents, a small group of scientists pulled together the first IMFAR meeting. As program chair of IMFAR’s second meeting in 2002, I recall spreading the submitted abstracts out on a large conference table in my lab; working with my graduate students, we created the conference schedule by moving pieces of paper around the table’s surface! In 2007, when my colleague, Elizabeth Aylward, and I hosted the meeting in Seattle, we were thrilled that 1,000 people attended the conference. This year, only four years later, nearly 2,000 people attended IMFAR inSan Diego, representing a 10-fold increase in attendance in only a decade. The conference not only has changed in size, it has also changed in a number of other significant ways:
Autism as a global challenge
The international scope and participation has grown tremendously. Whereas the first meetings included scientists from Europe and a few from Asia, today’s IMFAR includes scientists from virtually all continents on the globe. Autism Speaks sponsors an annual meeting at IMFAR of the International Autism Epidemiology Network (IAEN), a group now comprised of over 100 scientists from 30 counties! Topics of this year’s IAEN meeting focused on how to deliver services to low resource communities, both in the U.S.and in developing countries. Travel awards were given to 13 international scientists from countries that included Oman, Turkey, Nigeria, Palestine, China, India and Argentina, among others.
Attracting a new generation of scientists
I am especially encouraged by the fact that the number of bright young graduate students and postdocs involved in autism research is rapidly growing. Graduate students and postdocs from diverse fields ranging from neuroscience to education shared their research results and had an opportunity to hear and interact with scientists from a wide range of disciplines. Thirty-seven students received travel awards to IMFAR; they travelled not only from around theUS, but also from the UK, Germany, France, Spain, Canada, Japan, Mexico, Australia, and Israel. IMFAR provides a unique opportunity for graduate students to learn and be motivated to devote their careers to autism research. I was honored to participate in the “Meet the Experts” luncheon which provided an informal venue for students to talk in depth with senior scientists about their careers and areas of expertise.
People with autism and their families have a real presence in the IMFAR meeting
The inclusion of families and individuals on the spectrum as important and influential participants in the planning and conduct of IMFAR has steadily increased over the past decade. Community members are part of every IMFAR committee as well as the program planning. The committee I chaired this year that oversaw the INSAR board elections included a mother of a child with ASD and an adult with Asperger’s syndrome. At the meeting, parents and self-advocates with ASD attended lectures, gave presentations, and made opening remarks. Families with children on the spectrum could be seen throughout the meeting and especially enjoyed the technology demonstrations and booths. Video coverage was managed by Alex Plank, a person on the spectrum who hosts the website Wrong Planet.
Scientific progress provides hope for the future
Finally, I was struck by how both the breadth and depth of autism research has increased over the past 10 years. There are so many ways in which our thinking about autism has changed dramatically. To bring home this point, here are a few of the key themes and topics of research that emerged from this year’s conference:
- We now recognize that autism affects the whole body, not just the brain. Presentations reflecting this theme focused on studies of mitochondrial dysfunction, oxidative stress, sleep, gastrointestinal disorders and nutrition.
- The role of the environment and gene-environment interactions are now recognized as important etiological factors. Examples at this year’s meeting included studies on a variety of pregnancy and prenatal factors (fertility therapies, medication use, gestational diabetes, very low birth weight, maternal infection), neurotoxins (mercury, occupational exposures, air pollution), and specific gene-environment interactions.
- Autism can be recognized in infants less than one year of age, and interventions appropriate for infants and toddlers can alter the trajectory of children’s developmental outcomes. A wide range of new and innovative methods for detecting autism in infants were presented, along with several new methods for treating infants.
- There is an increasing interest in addressing the needs of two previously under-recognized populations of people with autism: adults and nonverbal individuals. I chaired a symposium on nonverbal autism in which scientists presented findings based on EEG that demonstrated that many children with autism who are unable to speak nevertheless have strong intellectual abilities and language comprehension. The same symposium illustrated how speech-generating devices can be effectively incorporated into early intervention to promote communication in children who have not developed speech. Studies on adults with autism were diverse, ranging from those focused on intervention strategies to improve quality of life, to how to promote independence and optimal health.
- The promise that technology holds for improving the quality of life for people with autism is more and more evident. This was especially clear in Autism Speaks’ Innovative Technologies Demonstration. The session was lively as adults and children with ASD and their families tried out the games and communication devices. We sponsored an international student technology design competition that attracted over 120 entries from around the world. I had the pleasure of giving the awards to the top three designs, all of which focused on the theme of helping people with autism connect to the world around them.
- Autism is no longer a “black box” – instead, the puzzle of autism’s underlying biology is being put together piece by piece. Using information gleaned from a decade of genetic research, neuroscientists presented papers that shed light on the role of the immune system in autism, identified several neural signaling pathways affected in autism, and described strategies for helping repair the brain’s synaptic function. One of the keynote lectures focused on the promise of a new technique called “induced pluripotent stem cells” which allows stem cells to be made from skin tissue. These cells are being coaxed into forming neurons and allow scientists to compare precisely the difference between neuronal functioning between persons with and without autism. These insights and technologies are providing clues to new autism drugs which are now being tested in animal models.
While I am happy to see the remarkable progress that has been made over the past decade, I am eagerly looking forward to the next 10 years, knowing that the pace of scientific discovery will only accelerate. I am hopeful that the science of the future will allow us to continue to make even more of a difference in the lives of people with autism of all ages.
Video Credit: Alex Plank
Nancy Jones, Ph.D., Director of the Autism Treatment Network and Clinical Trials Network
In one of the final sessions at IMFAR, several presentations provided updates in three important areas of intervention and treatment research.
Using technology to make interventions more accessible
Laurie Vismara, Ph.D. from UC Davis, MIND Institute reported on a new approach to make training for families on the Early Start Denver Model (ESDM) more accessible. Typically, families and clinicians attend training and coaching sessions in person at the clinic. Using web and DVD technology, Dr. Vismara and her colleagues have developed a program where families use web-based video conferencing for training sessions with a therapist. Families also had access to an interactive DVD including modules covered in training sessions that provide summaries of the key sessions, video examples, supportive videos, and feedback exercises. The study examined how this new web-based approach compared to in-person sessions. In a small pilot group of ten families, the researchers found that parents’ ability to implement the activities from the intervention was comparable to that found in families trained in-person. Improvement in the children’s word production and imitation skills were also comparable to children whose families had in-person ESDM sessions. A manual of this web-based approach is currently being developed. This approach holds promise to make interventions accessible to more families and to ensure children get timely intervention of the appropriate intensity.
Effectiveness of melatonin for sleep disorders in ASD
Many families and individuals with ASD report sleep problems. To alleviate these sleep problems, some individuals use melatonin, a hormone that is readily available and sold over-the-counter as a supplement. But despite melatonin’s easy accessibility and wide-spread use, there are not a large number of systematic studies of its use for sleep disorders in ASD.
Beth Malow, M.D., a neurologist and sleep specialist, and her team at Vanderbilt University Medical Center (VUCM), reported results from a pilot open-label study of melatonin for improving sleep onset. Many children suffer from sleep onset insomnia, which is a delay in their ability to fall asleep. The study examined the effectiveness of using melatonin to help children (ages 3-10) who have difficulty falling asleep (more than 30 minutes delay on more than three days a week). In addition to the melatonin, all families also were provided with sleep education on how to improve sleep. Twenty-four of the twenty-five children in the study showed an improvement at moderate doses that were well tolerated, decreasing the time it took them to fall asleep on more than three days a week. This study was an open label study, which means that families were aware of the treatment they were receiving. This study provides initial evidence for the potential effectiveness and safety of the treatment and also preliminary information to guide development of a planned multi-site, randomized controlled trial of melatonin.
Arbaclofen shows potential to treat social and communication problems in ASD children with high irritability
In a previous clinical trial on individuals with Fragile X, arbaclofen was found to lessen children’s tendency to withdraw socially and improved social behavior. The study reported at IMFAR examined the effectiveness of arbaclofen in improving social and communication skills in children with ASD. The children were 6-17 years of age, had a diagnosis of autism or PDD-NOS and also had high levels of irritability. The study was an 8-week, open-label study. Craig Erikson, M.D., of Indiana University School of Medicine reported the findings of the multi-site trial. Key improvements were noted for irritability, social withdrawal and communication. A double-blind, placebo-controlled trial is planned to begin early in 2011.
Guest blogger Ruth Carper, Ph.D., Asst. Research Scientist, Center for Human Development, University of California, San Diego
Adults with autism and their families may be interested to know that the scientific community is turning more attention toward understanding the full life course of autism spectrum disorders (ASDs). While a great deal of research is directed toward understanding the causes of the disorder and developing interventions for young children, we still know relatively little about how the disorder is expressed in adults and how autism changes as individuals on the spectrum get older. This year one of the Invited Educational Symposia at IMFAR was dedicated to this topic, and entitled: Adults with Autism Spectrum Disorders: Challenges for Epidemiological and Outcome Research.
The first two speakers Traolach “Terry” Brugha, M.D., and Fiona Scott, Ph.D. come from the UK where they have recently collaborated on studies of adults with Autism Spectrum Disorder. Dr. Brugha and his colleagues conducted a large epidemiological survey to assess the prevalence of ASD among adults living in the general community (published earlier this month in Archives of General Psychiatry, 2011; v. 68(5): pp. 459-466). The rates of ASD diagnosis have been rising rapidly in the last many years and it is generally accepted that at least part of this increase is due to increased awareness of the disorder among pediatricians, educators, and other child specialists, and to improvements in detection and diagnosis especially in individuals who do not have comorbid intellectual disability. However, it is important to remember that this also implies that there may be a large number of adults who could meet the criteria for an autism diagnosis but who have never been diagnosed with a disorder on the spectrum. To address this, Dr. Brugha and his colleagues contacted adults at more than 13,000 residential addresses in a door-to-door Adult Psychiatric Morbidity Survey in England. Using a stratified random sampling approach, 7,461 individuals participated in first phase interviews which included screening for a variety of psychiatric diagnoses. Individuals who met certain criteria on a 20 item screening questionnaire for autism spectrum disorders were selected to participate in more in-depth assessments including the ADOS (Autism Diagnostic Observation Schedule) and ADI (Autism Diagnostic Inventory). After all testing was completed, 19 individuals were determined to have previously undiagnosed autism spectrum disorders which the authors estimated represents of a rate of 9.8 per 1,000 in the general UK population. Importantly, they did not find evidence of any significant differences in rates across age. That is, it appeared that the oldest individuals were just as likely to have a previously undiagnosed ASD as the youngest.
The next speaker was Dr. Fiona Scott of the University of Cambridge, who is also part of the Adult Psychiatric Morbidity Survey in England. Dr. Scott focused on the particular challenges of accurately diagnosing ASD in higher functioning adults who did not have pre-existing diagnoses. ASD is a developmental disorder and accurate diagnosis requires knowledge of the individual’s social, communicative, and behavioral development during early childhood. The APMS study focused on a higher functioning population that may not have sought services during childhood and particularly wanted to include adults of all ages. Accurate diagnosis is particularly challenging in this population because it is often difficult or impossible to acquire accurate information about the early developmental period. Community-living adults in their 50s, 60s, or 70s may not have living parents who can describe their early development and if they do, these parents are being asked to recall subtle behavioral changes from many decades before. Accurate diagnosis may be further hindered by our limited knowledge of the life course of behaviors. The behaviors and abilities of individuals with ASD change as they get older, as part of normal maturation, as a result of the interventions and training that they partake in, and in response to the challenges that they face in daily life. For example, Dr. Scott pointed out the possibility of comorbid psychiatric disorders such as depression that may arise later in life and may make diagnosis less clear. This could be particularly problematic for previously undiagnosed populations such as those in the APMS study who would not have received outside support for dealing with social challenges.
Other diagnostic challenges include gender differences in ASD. The APMS study found a 9:1 ratio between males and females in the rates of ASD whereas most studies of children find ratios closer to 4:1. This may mean that the screening tools that were used need to be modified for use in women or it may be an artifact of the community-dwelling population that was examined. Women with ASD are often more severely affected cognitively than males and require more behavioral support, but individuals living in institutional housing were excluded from the APMS study.
The only member of the panel who was not from the UK was Marsha Seltzer, Ph.D. of the Waisman Center at the University of Wisconsin. Dr. Seltzer has been following more than 400 children and adults with ASD, and their families, for about 12 years. She is evaluating people who ranged in age between 10 and 52 years when they first entered the study and her research group continues to follow them. Dr. Seltzer reported several interesting findings from their series of studies. On average, individuals in her study showed improvement in social reciprocity and reductions in problematic repetitive behaviors and stereotyped interests across the first 6 years of the study. About 30% also showed significant improvements on the Scales of Independent Behavior-Revised which measure self-care and community living skills as well as cognitive and motor abilities. These improvements could be a result of the supports and interventions that the individuals receive in the community or could simply be the natural life-course of the disorder. However, Dr. Seltzer also reported a study that raises the question of whether even greater improvement might be possible if better support structures were provided. In a study that looked selectively at younger adult subjects who were exiting high school they found that, although repetitive behaviors decreased with time, the rate of improvement was much higher while students were still in school, but slowed substantially (or even regressed) after leaving school.
The final speaker was Patricia Howlin, Ph.D. of King’s College in London who provided a broader perspective of the natural life course of ASD across the life span. She reviewed outcome studies from 1967 to the present. These studies tend to classify individual outcomes as “good”, “fair”, “poor” or similar categories based on the level of independence achieved. For example, those who live in institutions are given poorer ratings than those who live by themselves and those who have part-time jobs rate better than those in sheltered employment or day programs. Over the years there appears to have been a slight decline in rates of “good” outcomes compared to “fair” or “poor” outcomes in such studies, but Dr. Howlin pointed out the subjectivity of these ratings and the difficulty of interpreting the effects of service changes such as the move from housing in large institutions to small group homes. Studies have also found that as much as 16% of adults with ASD develop additional psychiatric diagnoses such as depression and obsessive compulsive disorder which may be triggered by life stressors (citing Hutton et al., 2008). But those with good community support may have better outcomes (citing Farley et al., 2009).
The symposium on Adults with Autism Spectrum Disorders presented some important findings on the topic and also pointed out some of the unique challenges to this area of research. Identifying and recruiting this population is not a trivial task but one which must be addressed. Efforts to improve available tools in this area are moving us forward and it is clear not only from this symposium but from other presentations given at the IMFAR meeting — on diagnostic tools targeted at verbal and non-verbal adults, interventions for adults, and changing health status — that this area of research will continue to grow.
This guest post is by Autism Speaks staffer Kerry Magro. Kerry, an adult who has autism, is a recent graduate of Seton Hall University. He started the club 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.
Yesterday was my graduation from Seton Hall University. As this has been one of the most emotional and happiest days of my life I have taken some time to reflect on my journey and get my thoughts down on paper. Many people told me that my road towards a good education was going to be rough. The word “impossible” was a word that I learned very early on in regards to people’s opinions about whether or not I could get to college let alone graduate from college. Now I just have to say…
To the physician who told me when I was 6 that I would be lucky to get to high school, this one’s for you.
For the Special Education teachers who would look down at me like I was broken, this one’s for you.
For the years of being taunted and bullied by kids, saying I can’t and wouldn’t achieve greatness, this one’s for you.
For the people who helped me through physical therapy, occupational therapy and speech therapy till I was 14, this one’s for you.
For my parents, friends and relatives, who see me as an individual first who is/was never broken, this one’s for you.
For those teachers who said I could do it, this one’s for you.
For the countless other individuals out there who are autistic or love someone who is autistic, this one’s for you.
For the people who say you can’t do something even though you can this one’s for you.
For the people at Autism Speaks who have given me the chance to express my “voice” and help others through the Autism Speaks Blog for over a year now, this one’s for you.
At the end of the day our influences in our lives send us on our path, either good or bad. When I was 4 I was diagnosed on the spectrum. Now 18 years later I’m a college graduate who will be going to graduate school for a Master of Arts in Strategic Communication and Leadership. For all those people, again, the good and the bad, thank you. You’ve made me who I am today and I wouldn’t have it any other way.
…This one’s for you.
*On a side note, I wanted to add that I will be starting a scholarship program for individuals on the spectrum who are pursuing a post secondary program later this year. As a student, I know there is a lack of scholarship funding in this area and know even the smallest amount helps. Thanks for reading and remember to keep pushing everyday! We can all make a difference!*
Daniel Lightfoot, Ph.D., Director of the Autism Tissue Program
Ricardo Dolmetsch, Ph.D. has a vision for autism research. Using pluripotent stem cell (iPSC) technology to create rare stem cells from other “common” cells of the human body cells, Dolmetsch and his lab at Stanford study neurodevelopmental disorders such as autism.
Unlike embryonic stem cells or adult stem cells which are isolated from existing and often difficult to obtain tissues, iPSC’s are “created” from easy to obtain and plentiful sources, such as skin or hair samples. This is accomplished through a unique process where cells are developmentally regressed to an earlier state.
To appreciate the concept of a stem cell, consider a seed. As a single cell it holds the potential to grow into an adult plant. It is a “stem cell” – one that can change or develop into any cell of the plant, from a leaf cell, to a flower cell or into a root cell. Through iPSC technology, this process is reversed. Scientists can developmentally regress an adult cell into an earlier cell like a seed. In short, scientists can turn a piece of a leaf into a seed, which could then grow into any cell of the plant. Though this does not at all imply that science can create a whole person from a skin sample, it does, however, allow researchers to easily create a variety of cells that can then be used for scientific study.
Once stem cells are created, they can be induced to develop into brain cells. For the first time, scientists are directly studying living brain cells in the lab. How these cells grow, interact, communicate, organize into groups and what helps or impairs these cells’ growth is now being more effectively studied. Additionally, stem cells have the unique ability to replicate without changing, meaning that from a single skin or hair sample many cells can be created. This allows a near limitless source of resources for scientific inquiry.
Dolmetsch shared this vision at a keynote presentation at IMFAR. He and his colleagues have now created an entire repository of stem cells from individuals with neurodevelopmental disorders. By comparing autism brain cells, with Timothy Syndrome and other disorders, the research team is not only learning about the differences among these conditions, but also the commonalities. Once the brain cell is created, it is possible to experiment with different compounds to determine whether they can restore neuronal function. Thus, stem cells provide a platform for drug screening. A deeper understanding of these disorders will also contribute more generally to a fundamental appreciation of how the human brain works.
Jane Pickett, Ph.D., Director of Brain Resources and Data for the Autism Tissue Program
What does autism look like in a brain cell? Since the behaviors that characterize autism are an expression of brain organization and activity, it is logical to investigate this in post-mortem brain tissue’s component cells. This question was a theme at this year’s IMFAR.
The goal of brain cell research is to use information about cell organization, chemistry and genetics to inform and refine therapeutic strategies. One might assume that treatments would be only medications. However, our understanding of the activity of the brain supports behavioral therapy concepts too, especially through the involvement of a brain region known as the cerebellum. Long thought to be only involved in motor coordination, the cerebellum has lit up in functional imaging studies of language, attention and mental imagery. Jerzy Wegiel, Ph.D. at the NY Institute for Basic Research conducted a systematic study of the cerebellum’s smallest and evolutionarily oldest region, the flocculonodular lobe, which has primary connections with the brain’s balance (vestibular) and visual systems. In this region Dr. Weigel sees a disorganization among the neurons and their connections that would certainly contribute to impairment of visual-motor function.
Some of the innovative technology and training programs on display at IMFAR aimed to help children organize their visual and attention systems. Neuroscientists believe that these therapies work by engaging the brain’s remodeling abilities to correct dysfunctional connections between cells. The fact that the flocculonodular lobe is so interconnected with the vestibular system suggests that sensory integration therapies may help coordinate head and trunk movements by re-working connections in this region.
The Weigel lab also reported observing secretions of protein called beta-amyloid in brain tissue of children with autism. Interestingly, the level of beta-amyloid related to the severity of autism and aggression. The amyloid protein is a good example of nature’s multi-tasking. It is a large protein that can be cleaved to smaller active fragments depending on where and when in the brain’s development. This metabolic process may become abnormal when a particular enzyme becomes active. The enzyme is distinct from the enzymes that cleave amyloid into fragments that accumulate outside of cells in the brains of individuals with Alzheimer’s disease, where the protein is more commonly studied.
Epilepsy is a serious problem present in 39% of brain donors with autism. Autism and epilepsy is prevalent in a group of individuals with duplication of segments of chromosome 15. Children have a high rate of sudden unexpected death and the support group, IDEAS, is particularly dedicated to brain donation to the Autism Speaks’ Autism Tissue Program. Dr. Weigel and colleagues have found a broad spectrum of developmental alterations, degenerative neuronal changes and both the overproduction and activation (often a marker of inflammation) of an important brain cell type known as glia. The displacement and activation of glia as well as the appearance of clusters of neurons that appear to be immature or in the wrong place is likely to contribute to high the prevalence of epilepsy in this population.
Eric Courchesne, Ph.D. offered new revelations in brain tissue research in a dramatic keynote address that highlighted the importance of brain tissue for understanding the early abnormal post-natal growth of the brain. His lab observed more neurons in the rapidly developing frontal cortex. A closer examination of the six-layered cortex revealed differences in the unique chemical signatures that mark cells in each layer. In the brains of individuals with autism, Dr. Courchesne found that some patches of cortex do not show the expected markers. Advanced image processing devised by post-doctoral fellow Rich Stoner, Ph.D., generated a stunning three-dimensional picture of the layer, indicating that the cells are, in fact, present yet not displaying their unique signature.
Young investigators in Couchesne’s lab and others are benefitting from brain tissue resources and training in the art and science neuropathology. One such researcher, Ryan Smith, Ph.D. working in Dr. Wolfgang Sadee’s lab at Ohio State University, applied his genetics background to measure the expression of a number of genes related to synapse structure and cell-cell communication in human frontopolar cortex. Robust expression differences were observed for 11 genes between the brains of typical individuals and individuals with autism. For some genes, the genetic factors appear to be rare and only seen in brain samples from individuals with autism suggesting that rare mutations may underlie the autistic phenotype in some cases.
A central feature of the IMFAR conference was the presence of the National Database for Autism Research team leading the NIMH effort to centralize research results and make them available to the broader scientific community. Research results from brain tissue explorations of cell chemistry, cell genetics, cell metabolism, cell organization, cell-cell communication and overall brain structure are being integrated into the national database via the Autism Speaks’ Autism Tissue Program informatics portal.
The organizers of the conference gave special recognition to the parent advocates who launched the Autism Tissue Program and emphasized its ever growing importance in research. They in turn acknowledged the contribution of the families of brain and tissue donors.