Today, the start of Autism Awareness Month, inspires us to focus on the highlights of our research progress and look ahead to further strengthening our investigative efforts. The Interagency Autism Coordinating Committee (IACC) published its annual Summary of Advances in Autism Spectrum Disorder (ASD) Research today and recently posted the annual update of its Strategic Plan for ASD Research . In addition, today the Department of Health and Human Services released its Report to Congress on progress made under the Combating Autism Act of 2006, which includes information on recent activities and developments in autism research. I will summarize some of the findings in these reports. But first let's take a look at the numbers.
- The National Database for Autism Research (NDAR) now has 54,000 people registered in autism studies, up from 500 in 2009.
- The NIMH Genetics Repository has 6,680 samples available for distribution from people with autism, up from 1,640 in 2005.
- NIH funding has increased markedly, from $50 million in 2000 to $218 million (including $58 million from the American Recovery and Reinvestment Act of 2009) in 2010.
- NIMH has invested the largest fraction of NIH funding, contributing $120 million in 2010.
Of course, there are other numbers that cause continuing concern.
- The latest national prevalence figures from the CDC show that autism now affects 1 in 110 children, a 57% increase from the statistics released in 2007.1
- In California, the number of people receiving ASD services has increased 12-fold since 1987, according to their Department of Developmental Services.2 California has also seen a relentless increase of about 13% in new cases each year since 2002.
- In addition, the figures for employment and housing – to the extent that we have them – are not promising.
What about scientific progress? The past year has seen several advances in the search for early detection and early intervention. Diagnosis by age 14 months is now a realistic possibility. And controlled trials of behavioral interventions in the second year appear to have robust effects. The biology of autism has been explored with neuroimaging, with important studies of mitochondria, and with studies of inflammation. Genetics has been perhaps the most successful effort: roughly 15% of people with autism have been found to have a rare mutation that in many individuals is causative. In some genetic syndromes associated with autism, such as fragile X and tuberous sclerosis, we are seeing promising results from the first trials of new medications.
In addition to progress in the lab, NIMH is seeing results from funded projects aimed at improving daily living for people with autism. JobTIPS, a new, free, web-based program unveiled today, will help youth with ASD or other disabilities develop and maintain the skills needed for successful employment.
Against these positive signs of progress, the IACC heard three themes this year which they stressed needed more emphasis in the IACC Strategic Plan for ASD Research. One was the need for better access to services. While this is not a typical research focus, the urgency is so evident that the needs are increasingly forcing the IACC to address housing, employment, and health care (including dental care) of the wave of children with autism who are becoming adults with autism. Even when these services are available, access, financing, and equity are serious and neglected concerns on the way to becoming a crisis.
A second issue is the dearth of research on the most seriously affected or nonverbal individuals with autism. Most research, especially neuroimaging studies and some therapeutic trials, have focused on more mildly affected children or adults because these individuals may be easier to work with in research settings. This leaves nonverbal, cognitively disabled, and other seriously affected individuals understudied. In addition, current terminology does not adequately or accurately describe some of the more severely affected individuals on the spectrum; the IACC heard repeatedly over the past year that "nonverbal" does not mean "low functioning." Presentations during IACC meetings demonstrated how some nonverbal individuals, including some previously thought to be "low functioning," have used technology to get a "voice" and unlock their unrealized potential.
Finally, the balance of research has been questioned repeatedly. Which areas need more attention? Some want more services research to build the evidence base for improved service provision; others stress that more emphasis should be placed on identification of environmental factors that may play a role in causing autism.
What is most striking to me, as NIMH director, is the vitality of this field. While the conflicts get more attention, the coordination in the autism community is unparalleled. The IACC, which brings together federal officials and public advocates, has played a key role in this coordination by producing a strategic framework to guide research efforts and provide a basis for public-private partnerships, and by fostering joint research efforts, such as the recent IACC collaboration to investigate the epidemiology of autism in the Somali population in Minnesota .
The scientific community has also banded together in unprecedented ways to accelerate research progress. Witness NDAR, the autism genomic sequencing project, the "Baby Sibs" effort (studies of younger siblings of children with autism, who are at higher risk of developing autism), and much more. While the pharmaceutical industry is reducing drug development efforts in many areas of neurology and psychiatry, companies are actually launching new efforts in autism.
We can do more: a comprehensive bio-bank with a wide array of tissues, cell lines, and specimens for ASD research would be helpful for finding biomarkers, and a broad cohort study beyond the current efforts to track environmental exposures during pregnancy would be another important step. But at a time when there is so much angst about budgets and so much focus on conflict, Autism Awareness Month in 2011 can begin by celebrating the progress that has come from coordinated action.
1. Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006 . Morbidity and Mortality Weekly Report (MMWR) Surveillance Summaries. December 18, 2009;58(SS-10):1-20.
2. Cavagnaro, Andrew. California Department of Developmental Services. Autistic Spectrum Disorders, Changes in the California Caseload: An Update, June 1987-June2007 . 2007.