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.
In honor of the anniversary of Autism Speaks’ founding on Feb 25, for the next 25 days we will be sharing stories about the many significant scientific advances that have occurred during our first five years together. Our 25th item, Autism Prevalence Reaches 1:110, is from Autism Speaks’ Top 10 Autism Research Events of 2009.
In 2009, two major studies using different research methodologies yielded strikingly similar and eye-opening results showing that ASD affects approximately 1% of children in the United States. Based on data collected just four years earlier, it was found that ASD affected 1 out of every 150 children in the U.S. This represents a 57% increase in ASD prevalence in a relatively short period of time. Both studies also found that ASD continues to be four times more common in boys than girls.
In the first study, published in Pediatrics, authors from the U.S. Department of Health and Human Services (HHS) and the Centers for Disease Control and Prevention (CDC) collected data through the National Survey of Children’s Health (NSCH) on parent-reported diagnosis of ASD. Among a nationally representative sample of 78,000 children aged 3 to 17 years, the investigators found that 1 in 91, or an estimated 673,000 children in the U.S. had an ASD. While concerns lingered over the parent-reported nature of the data, this large-scale study set the stage for another major publication on ASD prevalence with similar results.
In December researchers at the CDC released new prevalence data collected by the Autism and Developmental Disabilities Monitoring Network (ADDM), a series of surveillance sites throughout the U.S. that maintain medical and service records on children with autism. By abstracting data and subjecting those records to stringent clinical evaluation, the authors found that approximately 1 in 110 children, 1 in 70 boys, met the criteria for ASD. This 1 in 110 statistic, based on data collected in 2006, represents a 57% increase from the 1 in 150 statistic which was based on data collected by the ADDM network in 2002 using identical research methods to the current study.
In a year that was jam-packed with publications on autism epidemiology, a number of other studies sought to investigate the reasons for the dramatic increase witnessed in autism prevalence. Researchers from Columbia University reported that approximately 25% of the rise in autism caseload in California between 1992 and 2005 could be directly attributed to changes in diagnostic criteria that resulted in a shift from mental retardation diagnosis to autism diagnosis. Therefore, converging evidence from this study and others around the world suggests that while changes in diagnostic practice may account for a portion of the increase, they cannot alone explain the rise in autism prevalence, and other factors, including environmental factors, likely play a role. One environmental factor that continues to be implicated in the increase in autism prevalence is parental age. Researchers from the California Department of Public Health reported in 2009 that parental age and particularly maternal age is a significant risk factor for autism, with a 10-year increase in maternal age increasing the odds of having a child with autism by 38% and mothers over the age of 40 at highest risk.
The prevalence studies of 2009 helped shed additional light on the immense nature of the autism public health crisis. With 1% of the U.S. population affected by ASD, and emerging data suggesting that 1% of the global population may be affected by ASD, never has the need for funding to support research into the causes and treatments of ASD been greater. In addition, these findings call attention to the necessity for more accessible diagnostic and intervention services for the growing population of those affected. In the CDC’s ADDM report and a separate study published in the Journal of the American Academy of Child and Adolescent Psychiatry, it was reported that while we can now reliably diagnosis autism spectrum disorders at two years of age, children on average are still being diagnosed at close to 6 years of age. This means that there is a large gap between the time that children can effectively be diagnosed at age 2, and the time they are actually receiving a diagnosis – valuable time lost where early intervention services can dramatically improve outcomes.
Did you know?: Autism Speaks, in partnership with the CDC, developed the International Autism Epidemiology Network, a forum to facilitate collaboration and information sharing between autism experts around the globe. Launched at the International Meeting for Autism Research (IMFAR) in May of 2005, today the network supports over 100 participants from 30 countries and its activities have resulted in over $2.5 million in targeted international epidemiology research funding from Autism Speaks. This includes the launch of two RFAs in 2008 designed specifically to better understand global autism prevalence and risk factors – click here for more information on the funded grants.
5|25: Celebrating Five Years of Autism Science Day 23: Gastroenterology consensus recommendations provide recognition of the need for specialized approaches to GI problems in children with autism
In honor of the anniversary of Autism Speaks’ founding on Feb 25, for the next 25 days we will be sharing stories about the many significant scientific advances that have occurred during our first five years together. Our 23rd item, Gastroenterology consensus recommendations provide recognition of the need for specialized approaches to GI problems in children with autism, is adapted from a 2009 press release.
Gastrointestinal (GI) problems are a commonly expressed concern of parents of children with autism spectrum disorders (ASD), but families have often found it difficult to find appropriate care for these issues. In December 2009, a consensus statement and recommendations for the evaluation, diagnosis, and treatment of gastrointestinal disorders in children with ASD were published in Pediatrics. These recommendations are an important step in advancing physician awareness of the unique challenges in the medical management of children with autism and will be a prelude towards the development of evidence-based guidelines that will standardize care for all children with ASD. The reports highlighted the crucial need for information to guide care, and emphasized the critical importance of fostering more research in this area, including genetic research, to support the development of these guidelines.
“The Pediatrics paper represents long-sought recognition by the mainstream medical community that treatment of GI problems in children with autism requires specific and specialized approaches,” reacted Dr. Dawson. “Autism Speaks has been actively engaged in the study of GI problems associated with children with autism, working toward enhanced medical community awareness for over five years through its research agenda and the Autism Speaks’ Autism Treatment Network (ATN). Dan Coury, M.D., ATN medical director, commented, “We are delighted to see the publication of important information that can support clinicians and caregivers in providing better care for children with autism, particularly with GI concerns, as parents unfortunately very often find it difficult to identify physicians who have an understanding of these issues and are able to provide appropriate medical care for their children. GI and pediatric specialists from six of the ATN sites participated in the forum and in the development of these recommendations, which shows the power of interaction among the communities and individuals dedicated to this problem. Autism Speaks is already engaged in the crucial next step which is to move beyond these consensus-based recommendations to develop evidence-based clinical guidelines.” In addition to development of evidence-based clinical guidelines for GI issues, the ATN is also currently working on evidence based clinical guidelines for medical management of sleep, and neurologic disorders associated with autism. “Delivery of evidence-based clinical guidelines will serve as excellent opportunities for future training and education of physicians,” added Dr. Dawson.
The consensus statement highlights several important themes, the first emphasizing that GI problems are a genuine concern in the ASD population and that these disorders exacerbate or contribute to problem behaviors. The need for awareness of how GI problems manifest in children with autism and the potential for accompanying nutritional complications and impaired quality of life were also emphasized.
In the second paper, the authors make consensus recommendations providing guidance on how current general pediatric standards of care that can and should be applied for children with ASD. George Fuchs, M.D., a co-author on the two papers and chair of the ATN GI Committee remarked, “The recommendations provide important guidance for the clinician to adapt the current practices of care (for abdominal pain, chronic constipation and gastroesophageal reflux) for the child with autism. The recommendations from the Autism Forum meeting complement the ATN’s on-going work to develop evidence-based, ASD-specific guidelines. The ATN is currently piloting newly created guidelines and monitoring their effectiveness. We anticipate this data will contribute to an evidence-based foundation to support best practices for GI problems in ASD.”
Autism Speaks is committed to the sustained support of efforts that address co-morbid medical conditions in the ASD population. In recognizing that there’s not enough evidence in any GI area and more research is needed, the Pediatric papers reaffirm the importance of the recent November 2009, Autism Speaks sponsored symposium and workshop on Gastrointestinal Disorders in Autism Spectrum Disorders. The symposium and workshop represented an important partnership with the American Academy of Pediatrics, and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) – the largest professional society for GI and nutritional specialists, and a professional authority for the development and implementation of pediatric GI guidelines. The symposium raised awareness and provided the latest scientific information to an audience of 168 researchers, clinicians, and pediatric GI and nutrition specialists, most of whom had limited expertise in autism. The symposium was followed by a workshop that brought together a diverse group of experts in GI, nutrition, pediatrics, pain, ASD, and biological research. Recommendations were developed for an expanded and targeted research agenda for the field that will address current gaps in the knowledge base and aim to advance evaluation and treatment of ASD-GI disorders. Proceedings from the meeting are scheduled to be published in 2010. A unique and important element in both the Symposium and Workshop was the inclusion of parents of children with ASD.
Did you know?: Autism Speaks’ Autism Treatment Network (ATN) is developing evidence-based guidelines that will provide specific guidance to physicians on how to address a number of medical issues of concern for children with ASD. The ATN is currently piloting a GI guideline algorithm (decision flow charts) for the assessment and treatment of constipation, and a sleep guideline algorithm for insomnia. The ATN is also working on guidelines in the areas of psychopharmacology and neurology. For more information on ATN guideline activities, please see www.autismspeaks.org/airp.
5|25: Celebrating Five Years of Autism Science Day 20: Later Language Acquisition in Nonverbal Individuals with Autism
In honor of the anniversary of Autism Speaks’ founding on Feb 25, for the next 25 days we will be sharing stories about the many significant scientific advances that have occurred during our first five years together. Our 20th item, Later Language Acquisition in Nonverbal Individuals with Autism, is from Autism Speaks’ Top 10 Autism Research Events of 2009.
A common belief of many parents and clinicians is that, if a child with ASD has not developed communicative speech by 5 years of age, the prognosis for future development of speech is extremely poor. In 2009 scientists challenged this belief by conducting a comprehensive review of the research literature to search for reports of individuals who were reported to have acquired speech at age 5 or older. Remarkably, one-hundred sixty-seven such cases were identified, changing the way in which we view language development in individuals with ASD.Early theories of brain development held that the period before age 5 represents a unique time in development during which language acquisition is possible, a critical period for language. Yet, recent longitudinal neuroimaging research has shown that the brain has a prolonged development, with major changes occurring during adolescence, and we now know that the capacity for neural generation extends even into adulthood. While the field of neuroscience has revised its notions of neuroplasticity and development accordingly, the field of ASD has held onto the notion of an early critical period for language acquisition. This paper published in the Journal of Cognitive and Behavioral Neurology, however, provides a very different perspective.
The authors identified in the published literature 167 individuals with ASD who used speech for the first time after age 5. Many of these children had been offered language intervention based on either traditional or naturalistic applied behavior analysis during the elementary school years, with the intensity of intervention ranging from 30 minutes/week to 30 hour/week. Others had been taught sign language or provided with Picture Exchange Communication System (PECS) training, computer-based training, or speech-language therapy. Children who developed phrase speech were found to have been in treatment longer than those who only achieved single word speech. In virtually all cases, significant time and effort put into treatment was necessary for speech to develop. According to their records, many of these children learned to “use phrases,” “answer simple questions,” “make spontaneous requests,” use “complete sentences,” and “speak in spontaneous, complex sentences.”
Although the age at which speech developed was variable (ranging from 6-12 years), once the child began speaking, subsequent improvement was often quite rapid. This suggests that achieving initial sound production and words can provide an important springboard for the development of subsequent speech. This important paper offers hope for the many children who have not yet developed speech by age 5, dispelling the belief that older individuals with ASD cannot respond well to speech interventions and providing a much more positive prognosis for individuals with ASD.
Did you know?: Autism Speaks’ High Risk High Impact Initiative chose “non-verbal” autism as one of its high priority research areas and has funded several grants in the area, including a novel treatment intervention to develop communication skills in non-verbal children over the age of five (to read more, please click here). Autism Speaks also partnered with the National Institute of Child Health and Human Development to assemble a group of experts focusing on language, development, and autism to evaluate the efficacy of treatment interventions that target acquisition of spoken language. This resulted in a consensus set of recommended measures published in the Journal of Speech-Language-Hearing Research. These measures define benchmarks for determining a child’s language level and will be used to establish a framework for comparing outcomes across intervention studies.
5|25: Celebrating Five Years of Autism Science Day 19: First Successful Autism Genome-Wide Association Study Results
In honor of the anniversary of Autism Speaks’ founding on Feb 25, for the next 25 days we will be sharing stories about the many significant scientific advances that have occurred during our first five years together. Our 19th item, First Successful Autism Genome-Wide Association Study Results, is from Autism Speaks’ Top 10 Autism Research Events of 2009.
Advances in technology and analytical methods over the past several years have enabled a better understanding of genetic risk factors for ASD. The human genome has over 6 billion DNA nucleotides. Until recently, it has been extremely difficult for scientists to compare two groups of individuals – one affected by a condition versus a comparison group – in terms of their detailed DNA because such comparisons require the analysis of at least half a million to a million individual locations in the genome of thousands of people. New methods, called Genome-Wide Association Studies (GWAS), have now made it possible to perform such comparisons and identify single changes in DNA nucleotides as specific genetic risk factors. Although this powerful technology has already produced exciting findings in other complex diseases, it wasn’t until 2009 that GWAS studies finally began to bear fruit for autism. In the Spring and again in the Fall, researchers reported successful application of GWAS technology to ASD.
GWAS is a powerful analysis technique that allows researchers to sift through hundreds of million of bits of genetic data to identify changes to the genetic code that are associated with a disease. Because the approach is not based on any specific biological hypothesis, scientists can cast the broadest experimental net possible, and use sophisticated statistical methods to establish the disease association. In recent years, GWAS has been successful in identifying susceptibility genes for such diverse conditions as macular degeneration, diabetes, rheumatoid arthritis, Crohn’s disease, and bipolar disorder. In April 2009, a large team of scientists led by investigators at Children’s Hospital of Philadelphia, reported results from the first successful GWAS study in autism. Tens of thousands of DNA samples are required for GWAS to produce meaningful results, so working with collaborators that included members of the Autism Genome Project, the researchers pooled samples from the Autism Speaks-funded Autism Genetic Resource Exchange (AGRE) combined with many other collections. The result was identification of a DNA variant associated with the genes cadherin 10 and 9, which are responsible for creating molecules that facilitate the formation of neural connectivity. This finding is consistent with accumulating evidence suggesting abnormal interactions between neurons may be at the core of the deficits seen in autism.
The idea that faulty connections between neurons plays a major role in ASD was further supported with the publication of the second autism GWAS study in October. Also working with AGRE and members of the Autism Speaks-funded Autism Genome Project, a collaboration led by investigators from Boston’s Autism Consortium and Johns Hopkins University used a very different statistical approach to discover an association between ASD and the gene semaphorin-5A. Similar to the cadherins identified in the first study, semaphorin 5A is thought to play an important role in neural development.
Taken together, these two groundbreaking studies confirm the potential for GWAS to make successful contributions to our understanding of autism genetics. Remarkably, out of the approximately 20,000 different human genes the experiments could have identified, the genetic variations that were uncovered are genes involved in brain development, serving to expand and reinforce our current thinking about biological mechanisms of autism. Like all new findings, they continue to focus the attention of the scientific community on the next directions for research and exploration.
Update since this story was published: DNA technology has once again advanced dramatically. New high-throughput techniques have finally made it possible to sequence entire stretches of genes, known as exons, in large numbers of patients. At the end of 2009, stimulus funds from the American Recovery and Reinvestment Act were awarded to investigators from the Autism Genome Project and the Autism Consortium who will use these new techniques to conduct a very detailed examination of 1,000 different genes linked to autism using several thousands of families who have kindly provided their DNA.
5|25: Celebrating Five Years of Autism Science Day 18: Unmet Medical Needs Documented for Autism Families
In honor of the anniversary of Autism Speaks’ founding on Feb 25, for the next 25 days we will be sharing stories about the many significant scientific advances that have occurred during our first five years together. Our 17th item, Recovery from Autism Spectrum Disorders, is from Autism Speaks’ Top 10 Autism Research Events of 2008.
For decades, autism spectrum disorders have been assumed to be life-long conditions. Recently, evidence has begun to emerge suggesting that a significant minority of children with well-documented autism spectrum disorder (ASD) can recover; in 2008 the first research publication to define and review recovery was released, placing the percentage of children who recover in the range of 3-25%.
In December 2008, a team of researchers from the University of Connecticut and their colleagues published an inspiring and provocative article documenting cases of recovery in autism. Recovery was defined as previously having had clearly defined ASD but currently no longer meeting criteria for any ASD. Furthermore, the recovered individual is now learning and using skills with a “quality that reaches the trajectory of typical development in most or all areas.” Using these criteria, the research team documented and followed a group of children, now between 8-18 years of age, with a history of ASD who are now “recovered.” The authors point out that children who recover from autism may nevertheless be at risk for other challenges, such as subtle difficulties with some aspects of language, anxiety, or learning disabilities.
In a previous study, the same researchers reported several cases of ASD that evolved into ADHD with no autism. Interestingly, most of these children had evidence of early regression and recurrent ear infections. Most had also received early intensive behavioral intervention. Recent outcome studies have shown that core symptoms of autism tend to improve by adulthood, especially difficulties in the areas of communication. Several outcome studies have found that about 10-20 percent of adults previously diagnosed with ASD no longer meet criteria for the condition.
How can recovery occur? One clear possibility is that successful treatment moved children who had ASD off of the spectrum. However, as the researchers point out, since most children who receive even the best and most intensive intervention do not recover, treatment alone cannot be the explanation. Both treatment and inherent characteristics of the child are likely to explain recovery. The research team therefore looked for child characteristics that predict optimal outcome, identifying higher IQ, receptive language ability, verbal and motor imitation, motor development, and an early age at diagnosis and initiation of treatment as promising predictors. In the majority of studies that report recovery, behavior intervention was used alone or in combination with other therapies.
The authors point out that although early intervention is associated with optimal outcome, this fact should not be used as an argument against the need for intervention in older children in light of the growing evidence of brain plasticity throughout the life span. Finally, this thoughtful article considers a wide range of biological mechanisms that may help explain the process of recovery. Future research directions will now provide us with insights into ways of improving the outcomes – and the chances for recovery – for all individuals with ASD.
Update since this story was first run: In 2009 researchers reported in the journal Pediatrics that they had used the National Survey for Children’s Health, a voluntary, parent-reported survey, to examine ASD prevalence in the US. Among other surprising results, they discovered that a substantial portion of parents reported their children had previously been diagnosed with an ASD but did not currently have the condition.