Autism Speaks names top ten research papers of 2015

As Autism Speaks moves forward into the new year with great ambition, its science staff and Scientific Advisory Board reviewed the many important research reports of the past year to identify the ten that most powerfully advanced our understanding and treatment of autism. Several of these studies opened up new avenues of research and/or demonstrated new opportunities to directly improve the lives of those affected by the disorder.

“We are excited to see progress being made across the broad scope of autism science, from genomics to international health,” says Paul Wang, Autism Speaks senior vice president and head of medical research. “Not only are we uncovering the causes of autism, we're also making progress in its treatment. We will be working hard this year to continue pushing forward on all these fronts, to make sure that their potential benefits to families are fulfilled as quickly as possible.”

For each of the selected scientific papers, Dr. Wang asked a member of the Autism Speaks science staff or Scientific Advisory Board to provide perspective on why it was so important in advancing the field of autism research.

Advances and insights from autism genomics

1 Whole-genome sequencing of quartet families with autism spectrum disorder.Yuen RK, Thiruvahindrapuram B, Merico D, et al. Nat Med. 2015 Feb;21(2):185-91.

2 Low load for disruptive mutations in autism genes and their biased transmission. Iossifov I, Levy D, Allen J, et al. Proc Natl Acad Sci 2015 Oct 13;112(41):E5600-7.

3 Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Sanders SJ, He X, Willsey AJ, et al. Neuron. 2015 Sep 23;87(6):1215-33

"The year 2015 unveiled several important genetic and genomic studies using new analysis approaches to deepen our dissection of the complexities of autism’s genetic factors. The three studies we cite here yielded unprecedented information and insights that further refine our understanding of the genes and their role in the development of autism spectrum disorder. These studies are the beginnings of a new era of whole genome analysis that will allow a clearer picture of both the smallest genetic changes and the larger structural chromosome changes that we must decipher in our search to better understand the many subtypes of autism and their precision treatments."
– Stephen Scherer, Autism Speaks Scientific Advisory Board member and director of Autism Speaks’ MSSNG program. Dr. Scherer directs the McLaughlin Centre at the University of Toronto and the Centre for Applied Genomics at Toronto’s Hospital for Sick Children.

For more on these genetics and genomics studies, also see:
“Largest-ever autism genome study finds most siblings have different autism-risk genes”
and
“Study finds half of all autism cases trace to rare gene-disabling mutations.”

Breakthroughs in effective parent-led interventions

4 Parent-mediated intervention versus no intervention for infants at high risk of autism: a parallel, single-blind, randomised trial. Green J, Charman T, Pickles A, et al. LancetPsychiatry, 2015, 2(2):133–40.

5Effect of parent training vs. parent education on behavioral problems in children with autism spectrum disorder:  A randomized clinical trial. Bearss K, Johnson C, Smith T, Lecavalier L, et al. JAMA 2015; 313:1524-1533.

“These two studies illustrate how far we’ve come in intervention science.  Both studies were performed with the most rigorous scientific designs and recognize the important role of parents. They also represent a number of firsts, including the first randomized trial for infants at risk for autism spectrum disorder and the first large, comparative efficacy study of behavioral challenges in young children with ASD.”
– Connie Kasari, Autism Speaks Scientific Advisory Board member. Dr. Kasari leads several research programs, including the federally funded Autism Intervention Research Network for Behavioral Health, at the University of California Los Angeles.

To learn more about advances in parent-led interventions, also see
“Training Helps Parents Reduce Challenging Autism Behaviors.”

6  Effectiveness of the parent-mediated intervention for children with autism spectrum disorder in south Asia in India and Pakistan (PASS): a randomised controlled trial. Rahman A, Divan G, Hamdani SU, et al. Lancet Psychiatry. 2015 Dec 15. [Epub ahead of print]

“More than 85 percent of individuals and families affected by autism live in low and middle income countries where a pervasive lack of expertise and services presents a barrier to better care and outcome. This groundbreaking study shows that it’s now possible to meet this fundamental challenge by empowering parents and other caregivers with the skills to better meet their children's developmental needs and, so, enhance child outcome and family wellbeing. Lessons from PASS and other model parent-mediated intervention are informing the development of community-based solutions like the WHO-Autism Speaks Parent Skills Training program. We have good reason to celebrate the promise of greater access to evidence-based care around the world in the near future.”

– Andy Shih, Autism Speaks senior vice president for scientific affairs. Dr. Shih leads Autism Speaks’ Global Autism Public Health initiative.

To learn more about this study, also see
“India and Pakistan set to benefit from parent-led autism therapy.”
 

Aging and autism-related health issues in adulthood

7Premature mortality in autism spectrum disorder. Hirvikoski T, Mittendorfer-Rutz E, Boman M, et al. Br J Psychiatry. 2015 Nov 5. [Epub ahead of print]

8 High rates of parkinsonism in adults with autism. Starkstein S, Gellar S, Parlier M, et al. J of Neurodev Disord. 2015; 7:29.

“We already know that adults with autism spectrum disorder have a huge need for supports in education, housing and employment. These two reports showed us that we likewise need to understand the medical issues that adults with ASD confront. In addition to regular medical care, our adult community needs special attention to potential autism-related complications such as Parkinson's, and psychiatric issues including anxiety and depression. We’re also seeing the need for improved monitoring of general medical issues given the overall increase in mortality that research has revealed.

These studies emphasize what Autism Speaks has long advocated: Our adult community needs more resources and more specialized services. Our models include the Center for Autism Services and Transition at Ohio State University’s Wexner Medical Center. Thanks to federal funding from the Health Resources and Services Administration, our Autism Treatment Network sites are engaged in research on issues with huge implications for adult health – including dental care, which we now know affects metabolic health (diabetes) and cardiovascular health (strokes, heart attacks) in adulthood.”
– Paul Wang, Autism Speaks senior vice president and head of medical research

To learn more about this important work, also see
“Study finds high rate of Parkinson's disease among adults with autism,”

“Ohio State University Opens New Transition Program”
and
“Transitioning teens with autism to adult care.”

Lessons in how autism influences learning

9Perceptual learning in autism: over-specificity and possible remedies. Harris H, Israeli D, Minshew N, et al. Nat Neurosci. 2015 Nov;18(11):1574-6.

“This study provided important information on how ‘drilling,’ or learning through repetition, may lead to difficulties in learning new information or patterns – at least for some people affected by autism. In essence, the researchers found that, among study participants affected by autism, repetition in learning tended to lead to inflexibility and hamper their ability to generalize a skill to new situations. The main point of the article, I believe, is that it’s important for teachers and parents to notice whether or not learning through repetition is interfering with skill acquisition and generalization.  

At the same time, the study was limited to tasks presented on a computer screen and the participants with autism were high functioning adults without intellectual disability. We know from clinical experience that repetition of tasks for some skills can be beneficial for some children and adults with autism – for example in learning daily living skills and stepwise instructions such as putting on underwear before pants. We need more research in this area – especially with younger children with different levels of ability.”
– Kara Reagon, Autism Speaks associate director of dissemination science

For more about this study see
“Study suggests too much repetition can hinder learning in those with autism.”

Discovery of unsuspected brain-immune system connection

10Structural and functional features of central nervous system lymphatic vessels.
Louveau A, Smirnov I, Keyes TJ, et al. Nature 523, 337–341 (16 July 2015)

"This is a seminal study because it further reveals the machinery that connects the immune system and the nervous system. Crosstalk between those systems may go awry in autism, and we are now more empowered than ever to understand how and why."
– Daniel Smith, Autism Speaks vice president for innovative technology

For more on this report, see

Discovery of brain-immune link could advance understanding of autism