Let’s talk about sex (and sexuality) in people with autism

This week’s ASF podcast explores differences in sexuality and sexual relationships between those with autism and without, and also differences between males and females with autism.  While this is not a new topic, the number of publications and research has exploded this year.  Learn more here.

The new #ASFpodcast reviews recent evidence showing that folic acid, taken during or prior to pregnancy, may reduce the probability of having a child with autism and intellectual disability.  Hear the whole story here.

The newly reconstituted and reorganized Interagency Autism Coordinating Committee has released their strategic plan for 2016-2017.  To read the full document, click here.

In a new blog post, ASF CSO Alycia Halladay explains the newest research in understanding the brains of people with autism.

This week’s ASF Podcast is a special interview with Dr. Gil Sharon from CalTech, who studies the microbiome in animal models and potential link to ASD.  The microbiome is the full community of bacteria that live in our bodies and outnumber cells 10-1. They can affect the genome directly and they can respond to environmental factors which means they may be a site for important gene x environment interactions in autism.  Some people with ASD, especially those with gastrointestinal problems, show alterations in the microbiome and more and more scientists are starting to incorporate studying this complex system into their research.  Most importantly, new research is suggesting potential for probiotic therapies to not only treat GI symptoms, but also core autism symptoms.    To hear the podcast, click here:  http://asfpodcast.org/?p=404

On Tuesday September 12th, the Autism Science Foundation, the Lerner Lab at Stony Brook University, Curtin University in Australia and Karolinska Institute in Sweden launched the first multinational survey designed to identify needs, gaps in services, and opportunities for employers.  The results of this survey will be used to develop a policy brief around employment in autism.  You can access the survey through the Lerner Lab website HERE.  This project is supported in part by the International Society for Autism Research.

Labor Day is a time to appreciate and honor all those people who work to make this world a better place. People with autism do that, but they also want to get paid and be employed just like anyone else. This Labor Day, the podcast summarizes challenges to studying employment in people with ASD, what we know, and what is being done in a collaboration between ASF, Curtin University in Australia, the Karolinska Institute and Stony Brook University in Long Island. This is the INSAR supported policy brief project that will be completed next year, but you will all be receiving a request to fill out a survey about employment in the coming weeks. In addition, what does employment mean for people with autism? A NY Times article recently highlighted the journey from childhood to adulthood and what having a job means. Listen to the podcast here: http://asfpodcast.org/?p=399

The Autism Science Foundation (ASF) announced the launch of three new multi-year research grants to expand the Autism Sisters Project at the University of California at San Francisco (UCSF) and the Broad Institute in Cambridge, MA. The Autism Sisters Project is an ASF initiative that explores the Female Protective Effect by studying autism families with an undiagnosed sister. Multiple lines of scientific evidence now show that females with an autistic sibling may have protective or resilience factors to autism.

Bishop

Somer Bishop, PhD (UCSF)

For years, scientists have reported higher autism prevalence in males, but the reason for this gender discrepancy isn’t fully understood. One potential explanation is the presence of protective factors in females that may be genetic, epigenetic, environmental, or a combination of these.  Research has shown that some females carry genetic deletions or duplications that are known causes of autism, yet these girls do not exhibit clinical symptoms of autism. Other studies have pointed to the presence of a higher genetic “load” for females to reach the autism threshold, compared to males.  As a group, girls with autism tend to exhibit more severe symptoms and tend to be diagnosed later. These initial findings warrant a focused study of unaffected sisters of individuals with autism to try to identify this potential protective effect.

Sanders

Stephan Sanders, BMBS, PhD (UCSF)

The three new research efforts funded by ASF will utilize data collected from families where a sister in the family does not have a diagnosis of ASD. Scientists will analyze thousands of families to understand the association between sex, phenotype and genetic mutation in all family members. Lead researchers will be Dr. Somer Bishop, associate professor at UCSF, Dr. Stephan Sanders, assistant professor at UCSF, and Dr. Elise Robinson, assistant professor at the Harvard T.H. Chan School of Public Health and an associate member of the Broad Institute of MIT and Harvard.

Robinson

Elise Robinson, ScD (Harvard)

“We are excited to support this important work, which will help scientists understand not only risk factors, but also resilience factors in autism behaviors, as well as autism features in females,” says Alycia Halladay, chief science officer of the Autism Science Foundation. “These researchers will work with data already collected, even as work continues at Mount Sinai School of Medicine to recruit more families to add to these datasets.”

Funding for Drs. Bishop, Sanders and Robinson will allow them to analyze previously collected genetic and behavioral data to study the female protective effect in autism, specifically the genetic and behavioral features of sisters of individuals with ASD.  The unprecedented combination of datasets includes information from thousands of families contained in the Autism Sequencing Consortium as well as datasets such as the Autism Genetic Resource Exchange and the Baby Siblings Research Consortium.

The Autism Sisters Project focuses on three areas:

  • Data on unaffected sisters will be gathered from existing databases with rigorous behavioral phenotyping data on all family members, this funding will start in August.
  • New families with a member who has autism and a female sibling without an ASD diagnosis will be recruited to the Icahn School of Medicine at Mount Sinai to donate saliva samples and participate in a full screening. A full DNA exome scan, among other analyses, will be performed on the entire family. This was funded in 2016 and the study is ongoing.
  • In the future, funds will be provided to autism research sites so that sequencing and phenotyping can be expanded to include an unaffected sister in families where samples from parents and the individual diagnosed with autism have already been collected.
The Autism Science Foundation is also providing financial support to the Seaver Autism Center at Mount Sinai School of Medicine to collect information on families that have not previously participated in a genetic research study.  Interested participants should contact the Seaver Autism Center at 212-241-0961 or theseavercenter@mssm.edu.
The Hilibrand Foundation provides major financial support for the Autism Sisters Project.

Parents of children with seizures are desperate to find something that will at the very least reduce the frequency of seizures in their kids.  Answers came in an unlikely place two months ago with the publication of a randomized clinical trial showing that seizures could be reduced with use of cannabinoids in kids with a condition called Dravet’s Syndrome.  Cannabinoids are one of the chemicals found in marijuana, and there are anecdotal reports on the use of marijuana or cannabinoids to treat autism.  Unlike THC, CBD (cannabinoids) do not cause euphoria or any psychoactive effects and are used exclusively for medicinal reasons.  This podcast summarizes current literature and also explains why it is so hard to study cannabinoids, including federal and state regulations and what needs to happen to open up this field of science

The journal Autism has compiled and published an entire issue dedicated to females with ASD.  The editors published a special call for studies on this topic and put them together here:  http://journals.sagepub.com/toc/auta/21/6.  Most of them are open access and can be downloaded free of charge.   Thank you to William Mandy and  Meng-Chuan Lai for their extraordinary efforts for making this happen.

This week’s podcast includes two important studies which examine early influences of language development.  First, we are lucky that Dr. Aaron Shield from Miami University joined to explain why studying children who are deaf and have autism, as well as parents of deaf children, are important for understanding language development.  He explores how autism is different and the same in those who are and are not deaf.  Second, study of very early speech, even before language emerges, may help guide speech and language therapists about how they should be dividing their time in therapy in toddlers, especially those with a high probability of developing ASD.  Thank you to both Drs. Shield and Chenausky for sharing their findings with us!

This summer, ASF will begin funding a post-doctoral fellowship to Dr. Michelle Failla at Vanderbilt University to understand the pain response in people with autism.  This study will examine both verbal responses to pain, as well as nonverbal responses like heart rate, facial expression and stress response, to a mild stimuli in adults with ASD.  In a new blog, ASF president and co-founder Alison Singer talks about experiencing the research protocol.  You can read more here.