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

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.

The Final Word on Antidepressants and Autism Risk???

Every time you turn around there is another study contradicting the last on antidepressant use and autism risk.  An answer on why there are differences across different studies may be found in a new analysis published by University of Washington and SSM Dean Medical Group in Wisconsin this week.  They showed that autism severity (not risk) is increased only with both a likely gene disruption AND following antidepressant exposure in pregnancy together.  This suggests a double hit model similar to other complex neuropsychiatric disorders like depression.  It also suggests that findings from other chemicals, like PBDE’s, may be dependent on gene / environment interactions too.  After all, a new systematic review showed PBDE’s during pregnancy are bad for the IQ of the child.  This provides insight on ASD risk and subtype given the multitude of possible genetic / environmental combinations out there.

Post zygotic mutations in autism: what you need to know

Yes, another type of mutation in autism was revealed this week.  Those that are evident after the sperm and egg meet to form the zygote but still very early, during embryonic development.  Because it occurs after the original zygote is formed, the mutation is not found in every cell or every region of the body, called post-zygotic.  A collaboration of three major genetic consortia studied and collaborated on these types of mutations and revealed that they consist of about 7.5% of all de novo mutations in people with autism.  They affect autism risk genes and selectively target brain regions associated with autism.  Learn more about what this means for family planning and cognitive ability in people with autism.

A 4th of July quickie on new data for treatment of autism symptoms

Happy 4th of July weekend.  This week’s podcast is devoted to the studies in the past few months focusing on autism treatments that didn’t make it into the regular weekly roundup.  They include data that shows promising results (peer networks and iPads) as well as those that didn’t do as well as hoped (social skills).  There were also some that showed that some therapies just don’t have any good studies to show definitively if they are helpful or not.  Take 8 minutes before the fireworks and listen to the latest on interventions of ASD.

Who could have thought the genetics of autism was so complicated?

On Monday, the much anticipated MSSNG study which analyzed the entire DNA sequence of over 5000 people with autism was published.  The press release can be found here.  In it, the researchers found even more genes of interest to autism.  Also, those with more of a specific type of mutation, copy number variations, had worse autism symptoms.  But of course, the story gets more complicated than just more mutations – worse behavior.  An analysis from a different group of individuals reinforced the role of copy number variations in symptoms, but when they matched the groups according to IQ, the autism symptom profiles were different.  This shows that adaptive behavior  and IQ are important to consider when considering how genetics influence autism symptoms.  Finally, another study shows how important measuring genetics is to understanding environmental factors associated with autism.  Michela Traglia reports that increases in PBDEs in moms of kids affected with autism can be explained by mutations in the gene that breaks down these chemicals.  It’s important to study genetics of autism, but also crucial to know the genetics of the entire family as well.

Autism diagnosis in adulthood

While still rare, there are cases where an autism diagnosis is not made until adulthood.  Why have these people been missed and what do they need?  How did they go for so long without anyone recognizing that they needed help?  A new study from the lab of Dr. Francesca Happe in the UK investigates the characteristics and features of people who were referred for a diagnosis after 18 years of age.  Hear more about how they managed in this week’s podcast.

Parents are interventionists too

Parent training has a number of important uses in autism.  For toddlers, parents help provide intervention strategies in a number of settings allowing skills to be generalized.  In adolescence, parents can help implement behavioral rules that can manage non-compliant behaviors, aggressive, disruptive or impulsive behaviors.  This week, research investigated the role of parent training plus and ADHD medication for ADHD symptoms in autism and the results are promising.  Finally, a review of the new NIH funding in understanding the causes of autism is reviewed.  You can also read this review at the ASF blogsite.

Where are all the girls with autism? Live from the Seaver Center Conference

Hear what you missed if you were unable to attend the Seaver Autism Conference on September 25th!  Dr. David Skuse discusses “where are all the girls with autism”, summarizing evidence that some girls with high verbal IQ and autism might be missed, suggesting genes associated with high IQ may be protective against a diagnosis until adolescence.  Also, ASF grantee Dr. Jennifer Foss-Feig describes how biomarkers can be used to improve personalized medicine.  Finally, a summary and review of the new air pollution systematic review and meta analysis.  Limited evidence does not equal none, and air pollution is a real problem.  Here is a link to the paper:  http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161851.  All in 12 minutes.

The importance if IQ in an autism outcome.

Cognitive ability, measured by intellectual quotient or IQ, has been thought to predict response to intervention, social abilities, adaptive behavior and long term outcome.  Numerous studies have shown that it can influence what is labeled as a good outcome.  However, two studies this week point out how those across the spectrum in cognitive ability still benefit from early intervention and make friends on the playground.  In both studies, there were factors that were more important for outcome than IQ.  So it may be an important factor in outcome, but not the only factor.