August 04

Funding Autism Research

Autism spectrum disorder (ASD) encompasses many developmental disorders that cover a range of symptoms. While some people with ASD might have mild symptoms, others may stand out due to issues with social communication and language, for instance. Fortunately, scientists recognize that we need to accurately identify and treat individuals with ASD, beginning in early childhood and continuing well into adulthood. Unfortunately, the biological complexity of ASD has made it an expensive question to address.

Gary Maffei, CEO of Quality Services for the Autism Community (QSAC), authored an article in The Guardian last year in which he argued that, in spite of a large investment of taxpayer money to fund research into the causes and possible cures for ASD (i.e. ASD research), there are few, if any, tangible benefits. He argues that a better use of the money would be to offset budget cuts that are currently hindering the ability of organizations like QSAC to provide direct services to autistic individuals. While approximately $1 billion dollars have been spent over the past decade on ASD research, services that cater to both autistic children and adults face budget cuts, or rising costs that keep communities from offering the same level of support (examples include Illinois, North Dakota, and Boston, Massachusetts). It is easy to understand where the author is coming from, given the debilitating nature of ASD in some untreated individuals. As a scientist, I sympathize with the need for more support for individuals with ASD, but also recognize that, in spite of what may seem like its slow pace, ASD research will and has already proven its importance in developing ever better treatments for people living with ASD.

 

ASD is a complex disorder

In spite of the stereotypes around ASD, it is important to remember that it is, by definition, a spectrum of developmental disorders. This means that the precise symptoms and, theoretically, genetic and environmental factors behind ASD in any one individual, are not uniform across every individual that has been diagnosed with ASD. For instance, scientists can currently detect a genetic mutation in about 20% of cases, but each mutation by itself can account for only ~1% of all cases of ASD [1]. Males diagnosed with ASD tend to have more readily observable symptoms, such as aggression and hyperactivity, while females exhibit more internalized symptoms, such as depression and cognitive impairments. In fact, females with ASD seem to be spared from the more severe behavioral symptoms of ASD [2]. This gender bias has been validated across various studies but, because scientists do not currently understand the origin for this female protective-effect in ASD, no sex-specific treatment currently exists.

Further complicating a complete understanding of ASD is the fact that ASD is sometimes diagnosed concomitantly with other neurological disorders, such as epilepsy in 5 – 46% of children with ASD, insomnia in 53 – 78% of these children, and various motor impairments as well (see review in [1]). While many of these disorders have genetic risk factors in common with ASD, scientists must intensify efforts to use this information in order to develop targeted treatments at early stages of development. In short, ASD is poorly understood, and cutting funding would delay current progress, however slow it may already appear to be. Such a complex issue requires scientists to think of just about everything.

 

A challenging form of ASD, with overstimulation. Not all forms are this severe, however. See Temple Grandin’s TED talk, linked below, for another example. Regardless, adults are largely on their own when it comes to community services and treatments.

 

Funding over the past decade helped develop important early screenings and interventions

Until the 1990s, clinicians lacked a tool that could identify ASD in young children that were not considered to be at risk for ASD. As a result, many children had a delay in receiving a diagnosis and, subsequently, treatment. Children that were fortunate enough to receive a diagnosis of ASD and begin treatments early on had long-lasting benefits such as enhanced social interaction, language skills, and even normalized patterns of brain activity [3]. Some studies indicate that, as children become older, these interventions lose their effectiveness, suggesting that there is a critical period in which toddlers can reap the most benefits from early interventions [4, 5].

Since the late 1990s, clinicians gained access to tools that could identify ASD in ever-younger populations of toddlers. Clinicians now have access to screening tools that can accurately identify ASD and other developmental disorders in children as young as 12 months of age [6, 7]. The screens that are most commonly used today, the Communication and Symbolic Behavior Scales Developmental Profile Infant/Toddler Checklist (CSBS DP IT) and the Modified Checklist for Autism in Toddlers Revised (M-CHAT-R), were devised, or refined, within the last decade. These screens also depended, at least partly, on government funds to test and develop. In some cases, these screens can be completed by parents without any specialized training in as little as 5 – 10 minutes, with additional time used to reduce the rate of false positives. These screens have also been implemented in underserved communities, thereby potentially reducing racial/ethnic disparities in access to necessary services [8].

There are two techniques often employed once a diagnosis is made. These techniques can be partly carried out at home, and usually require some training for the parents to ensure that they are providing excellent care. One is the Lovaas model, devised in 1987, which has been shown to improve language and basic living skills [9]. This intensive method can involve parents along with trained therapists, and uses techniques from behavior modification to slowly eliminate negative behaviors and reinforce positive ones. Another common, similar, and more recent choice is the Early Start Denver Model (ESDM) which, thanks to grants from the government, was used in a study to determine whether the effects of ESDM training hold up over time. Dawson et al. (2010) found significant improvements in adaptive behavior and autism diagnosis, which lasted at least two years from the beginning of treatment. As a result, ESDM is now a common choice for early interventions. It is interesting to note that ESDM is an invention of the last decade and that, before it, the last proven and prominent intervention was from the 80s. Clearly, ASD funding over the past decade has proven valuable.

Given the heterogenous nature of ASD, and the heterogeneous effects of early treatment, there is a consensus amongst scientists that ASD subtype-specific interventions will be required for optimal impact [3, 11]. It would be good to speculate on which subtypes might be most responsive to specific types of interventions, but much more research has to be carried out in order to understand the interaction between the ASD subtype and treatment used. That said, research has provided at least two important tools for families and therapists – screens that can detect ASD in children as young as 12 months of age, and interventions that have been proven to have lasting effects. And even though this required taxpayer money, one study suggests that the money saved by not having to send these treated children to costly special education programs would save several hundred thousand dollars per child across grade school [12] (Chasson et al., 2007).

 

Support for adults is needed

Those diagnosed with ASD, however, are not all children. I concentrated on children for most of this essay, simply because we can now do more for the next generation. Children who are diagnosed with ASD in the future should be able to rely on well-studied interventions that are specific to their subtype of ASD. Children in the future should be prepared to adapt to the world and reach their potential, if not ‘cured.’ (I note that, per this essay, ASD should be thought of as a “neurological difference”, not an illness.). Adults, however, need immediate help, and here I wholeheartedly agree with Gary Maffei. There are renowned professors like Temple Grandin and John Elder Robison, or artists like those at the Pure Vision Arts studio in Manhattan, who have been able to live with ASD while surpassing whatever expectations could be had of any person. Some may need more help than others, but this focus on ASD as a mostly childhood disability is not appropriate. Adults face their own sets of challenges, and treatments should be in place for individuals with ASD all throughout their lives. Early screening, and intervention, sets the stage, but it is important that we, as a society, support our disabled brothers and sisters whenever they could use our help.  A discussion of the unique difficulties faced by adults, and the services offered to them, will follow in another essay.

 

Temple Grandin, Professor at Colorado State University, talks about how people with ASD can think in abstract ways. Oh, and she also happens to have ASD.

 

Scientists are currently trying to tackle ASD from many perspectives. We look at autism from the viewpoints of genetics, behavior, screening, treatment, and in conjunction with other developmental disorders. This has proven useful in the development of early screening and interventions, but we have failed to consider the necessities of adults living with ASD. As a scientist, I know that it is easy to get caught up in one’s current work, but a more humanitarian approach is required. I believe that dedicated research, with a renewed focus, is imperative. That said, funding over the past decade has been effective in helping a new generation of children with ASD, and I hope that funding will continue to be allocated to ASD research, as well as to services that can have a direct impact on people living with ASD. Perhaps the next generation of adults with ASD, those who were identified and treated when young, will come to depend less on special education programs and services administered by organizations like QSAC.

References

For two common, free, and effective screens:

https://www.autismspeaks.org/what-autism/diagnosis/mchat

http://brookespublishing.com/wp-content/uploads/2012/06/csbs-dp-itc.pdf

For reviews:

[1] Jeste, S. S., & Geschwind, D. H. (2014). Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nature Reviews Neurology, 10(2), 74-81.

Available here

[3] Pierce, K., Courchesne, E., & Bacon, E. (2016). To Screen or Not to Screen Universally for Autism is not the Question: Why the Task Force Got It Wrong. The Journal of Pediatrics.

For more details:

[2] Dworzynski, K., Ronald, A., Bolton, P., & Happé, F. (2012). How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders?. Journal of the American Academy of Child & Adolescent Psychiatry, 51(8), 788-797.

Available here

[4] Fenske, E. C., Zalenski, S., Krantz, P. J., & McClannahan, L. E. (1985). Age at intervention and treatment outcome for autistic children in a comprehensive intervention program. Analysis and Intervention in Developmental Disabilities, 5(1-2), 49-58.

Available here

[5] Harris, S. L., & Handleman, J. S. (2000). Age and IQ at intake as predictors of placement for young children with autism: A four-to six-year follow-up. Journal of autism and developmental disorders, 30(2), 137-142.

Available here

[6] Robins, D. L., Casagrande, K., Barton, M., Chen, C. A., Dumont-Mathieu, T., & Fein, D. (2014). Validation of the modified checklist for autism in toddlers, revised with follow-up (M-CHAT-R/F). Pediatrics, 133(1), 37-45.

Available here

[7] Wetherby, A. M., Goldstein, H., Cleary, J., Allen, L., & Kublin, K. (2003). Early identification of children with communication disorders: Concurrent and predictive validity of the CSBS Developmental Profile. Infants & Young Children, 16(2), 161-174.

[8] Herlihy, L. E., Brooks, B., Dumont-Mathieu, T., Barton, M. L., Fein, D., Chen, C., et al. (2014). Standardized screening facilitates timely diagnosis of autism spectrum disorders in a diverse sample of low-risk toddlers. Journal of developmental and behavioral pediatrics: JDBP, 35(2), 85.

Available here

[9] Lovaas, O. I. (1987). Behavioral treatment and normal educational and intellectual functioning in young autistic children. Journal of consulting and clinical psychology, 55(1), 3.

Available here

[10] Dawson, G., Rogers, S., Munson, J., Smith, M., Winter, J., Greenson, J., et al. (2010). Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model. Pediatrics, 125(1), e17-e23.

Available here

[11] Kim, H., Lim, C., & Kaang, B. (2016). Neuronal mechanisms and circuits underlying repetitive behaviors in mouse models of autism spectrum disorder. Behavioral and Brain Functions, 12(1), 1.

Available here

[12] Chasson, G. S., Harris, G. E., & Neely, W. J. (2007). Cost comparison of early intensive behavioral intervention and special education for children with autism. Journal of Child and Family Studies, 16(3), 401-413.

Available here

 

Featured image from here

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