Parents are people too

Sometimes parents get a bad rap for not having autism themselves, or not being in touch with the challenges of autistic adults.  This week’s ASF Podcast highlights two new studies on the role parents play in science, research and understanding racial disparities.  A group in the United Kingdom released the results of a survey across Europe which examined parent perceptions on early autism research (think infants and toddlers) and how researchers could better help families at this stage.  Another study from researchers in Georgia and Connecticut revealed how important parents (and clinicians) can be in reducing the disparity in diagnosis between black and white children in the US.  Finally, a call to unite over a common challenge: employment.  If you have not done so already, please make your voice heard as a parent, autistic adult, employer or service provider on a survey gauging the needs of the entire autism community around employment.  http://www.lernerlab.com/employmentsurvey.html 

 

Here are the references used in this podcast:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230972/ 

https://www.autismspeaks.org/sites/default/files/docs/as_science_planning_survey_final_pdf_0.pdf

https://www.ncbi.nlm.nih.gov/pubmed/29126359

https://www.ncbi.nlm.nih.gov/pubmed/29100475

 

Genes: the beginnings of autism treatment targets

This week’s podcast focuses on two studies that help illustrate why studying individuals with a specific genetic mutation, or animal models with a particular genetic mutation, are so important.  MSSM researchers focused on individuals with FOXP1 Syndrome, which has a high rate of autism and could be the focus of future treatments.  In the meantime, researchers at UTSW, led by ASF fellow Christine Ochoa Escamilla, identified a particular brain chemical responsible for changes in brain activity following mutations of chromosome 16.  About 1% of people with autism have mutations in this chromosome.  Application of a chemical to counteract this chemical then led to improvements in brain activity, opening up the door to new drug targets that affect some of the more severely affected individuals with ASD.

 

Here are the references:  https://www.ncbi.nlm.nih.gov/pubmed/29088697

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-017-0172-6

More on that Korea Daily mess. Plus early detection of ASD does improve outcomes.

This podcast was going to be dedicated to new early detection research which shows what the USPSTF has been looking for – the link between early detection, early intervention, and improved outcomes in a community setting.  Those findings are still included this week, but there is a slight diversion in theme.  The podcast will also include  an explanation of the immune/microbiome study published in Nature and misrepresented  by Korea Daily.  The study is important, however, the media sensationalized the findings and did the research no favors by labeling it a “major cause”.   Learn what the study did and what it actually discovered in this week’s podcast.

 

Here are the references of the studies mentioned in the podcast:

https://www.ncbi.nlm.nih.gov/pubmed/28902840

https://www.ncbi.nlm.nih.gov/pubmed/28905160

https://www.ncbi.nlm.nih.gov/pubmed/27474118

 

 

This type of autism is not like the other – and here is data to show it

Identifying subtypes for autism and narrowing down the heterogeneity of symptoms has been considered the holy grail of autism research.  If one person with autism is not like another person with autism, can they at least be put into groups to speed up studies into causes, intervention and services?  And how?  This podcast explains two different studies that used the same statistical method but different children with autism to identify different groups.  One of the things that helped define these groups was verbal ability and IQ.  For the first time, comorbid symptoms like medical issues and psychiatric diagnoses  are being taken into account.  Already, this approach is helping scientists better understand why fever improves symptoms in some people with autism.

A different type of autism?

Last week, investigators with the Autism Treatment Network published a long awaited study on the differences between the DSM IV and DSM5.    Other studies had relied on information on old pieces of paper to judge whether or not someone who met criteria under DSM IV would be now diagnosed with DSM5 criteria.  This study, on the other hand, used in person evaluations of over 400 individuals with autism.  PI from the Missouri site and lead author of a new study, Dr. Micah Mazurek was gracious enough to provide a summary of the findings in the podcast.  A quick preview:  they showed differences in the diagnosis in the group previously known as PDD-NOS.  Is this a new type of autism?  Their symptoms were less severe and they had normal IQ ability – do they have a subtype of autism or a new form of ADHD?  This study isn’t the first to suggest using different categories of symptoms of autism like DSM IV did, and indicates that the new criteria of the DSM  5 are more specific.  In addition, a 2 minute summary of all the great presentations at the Autism Society of America is given.  Totally insufficient to describe everything that went on, but it’s a start.

From Early Detection to Early Intervention

This month, two new important research findings were published from scientists that study the very earliest signs and symptoms of autism.  First, Dr. Suzanne Macari at Yale showed that a type of temperament in toddlers was associated with autism at about 3 years of age.  This may be used in the future to develop specialized interventions very very early on.  Meanwhile, Dr. Jessica Brian’s group in Canada used the very early signs of autism – social orienting – to develop a new intervention called the Social ABC’s which they piloted last year.  Last week, a randomized clinical trial of this intervention showed improvements in social smiling, reactions to parents, and social orienting, suggesting it is a feasible and valid intervention option.  There is now a list of these interventions that have been rigorously tested.  This demonstrates that the early detection of features of autism, like temperament, can be turned into interventions to improve the outcome of toddlers with ASD.

What is the focus this week? The unsung heroes of grandparents and clinicians

Scientists have studied males compared to females with autism, but rarely has there been studies about what clinicians see as differences in these two groups.  Given that they provide insight on diagnosis, needs and access to services, it is kind of important to talk to them, and a study out this week in the journal Autism did just that.  You can find the full text here:

http://journals.sagepub.com/eprint/V5p3isSVAKDbdQf2jH4Q/full

Also, scientists are starting to understand the role of exposures in parents and how they affect diagnosis of autism in their children, but this week a new wrench was thrown into the wheel:  researchers in the UK found that grandparental exposures play a role in autism diagnosis too.  Luckily, this too is open access and you can read it for yourself.  It was covered in the media and we have perspective from a parent included.

https://www.nature.com/articles/srep46179

I discuss this second project with Jill Escher, founder of the Escher Fund for Autism and co-funder of the study.

Autism symptoms in girls with anorexia

This week summarizes some new studies looking at autism traits and autism diagnosis in girls with anorexia nervosa.  While the two disorders may seem different on the outset, they do share some behavioral features.  Unfortunately, most studies look at autism in those with anorexia, not the other way around.  However, what is known is that there is not only higher levels of ASD traits in girls with anorexia, about 10% of girls with anorexia also have an autism diagnosis.  This number can only be trusted if you look at both standardized observation instruments AND parental report.  Studies determining the rates of eating disorders in autism are desperately needed for better treatment of symptoms.

Hip hip hooray for toddler interventions for autism

As always, good news and bad news in autism this week.  First the good news:  an intervention given between 9-14 months of age in children with a high probability of having an autism diagnosis improved autism symptoms at 3 years of age.  Now the bad:  mothers who experience severe childhood abuse are more likely to have a child with an autism diagnosis.  Why?  A new study explains it might have a lot to do with autism traits in the parents.  We would love to hear your thoughts on the results, please provide them in the comment section.

Oops the media did it again…

Last week CNN.com reported on a study that showed slight improvement of autism symptoms in children that received a single infusion of their own umbilical cord blood.  While the study was interesting, the authors were the first to acknowledge the limitations, however, this did not stop the media from misrepresenting the results.  Details are explained in this podcast.  In addition, a big win this week for precision or personalized medicine:  different symptoms and different genetic mutations are linked to different outcomes from different anti-seizure medications.