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Genetic confounding plus organoids

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You heard it in the news this week, and we discuss it on this week’s ASF podcast. Can you make little brains in a dish then make them better by providing them a real structured live neural environment? Can these organoids integrate with a live brain and be functional in vivo? The answers are: yes! Learn more from a new study published this week. Also, what the h**l is genetic confounding and how can it address many of the controversies of genetic vs. the environment? Sometimes genes that predispose to a disorder also predispose to environmental factors leading to that disorder. There is always room for both. Here are the links I promised:

https://www.fhi.no/en/studies/moba/

https://pubmed.ncbi.nlm.nih.gov/35793100/

https://www.nature.com/articles/s41586-022-05277-w

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How important is the sensory system?

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Most people with autism have some sort of sensory dysfunction: hypersensitivity or hyposensitivity or sensory avoiding behaviors to touch, smell, sound, light. But a new study looking at kids from the Study to Explore Early Development (SEED) suggest that it may be more important than you think. In fact, it was the only feature to unify those with autism compared to those with developmental delay. Are there treatments outside of environmental supports to help sensory issues? There could be: a drug that tried and failed to treat other features of autism called arbacolfen supports the idea that this drug target could be helpful in treating sensory issues.

https://pubmed.ncbi.nlm.nih.gov/34985973/

https://pubmed.ncbi.nlm.nih.gov/34967132/

https://pubmed.ncbi.nlm.nih.gov/34873147/

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Understanding the brains of people with autism with Daniel Geschwind, MD, PhD

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This week’s ASF podcast is a special treat – Dr. Daniel Geschwind from UCLA provides an understanding of the brains of people with autism, focusing on those with a mutation in chromosome 15.  He goes over how they are similar and different (teaser: they are more similar) and answers questions from families about how this research is important for helping improve the lives of people across the spectrum.

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Autism spectrum disorders underneath a bigger umbrella: more data from the brain

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There is demonstrated genetic overlap between many neurodevelopment disorders including  ASD, ADHD, and schizophrenia, and now there is data showing similarities in the structure and size of the brains in people with autism and those with ADHD.  These differences depend on how severe social difficulties are, but the similarities are seen with ASD and ADHD, but not OCD.   In addition, this week there are new depressing results from the Interactive Autism Network on unemployment and females with ASD.  The results may not surprise you, but they will upset you.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361977/

https://www.ncbi.nlm.nih.gov/pubmed/30729799

 

 

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Can IGF-1 treat autism symptoms? A clinical trial aims to find out

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A full transcript of this podcast episode can be read on the ASF blog here.

Researchers at Mount Sinai led by Alex Kolevzon are running a clinical trial of the compound insulin-like growth factor 1 (IGF-1) for children with idiopathic autism. Dr. Kolevzon’s team previously demonstrated the safety and feasibility of IGF-1 in treating Phelan-McDermid syndrome, a single-gene form of autism. Particularly, the IGF-1 treatment improved symptoms of social impairment and repetitive behaviors, which are core symptoms of autism. Expanding their investigation into idiopathic autism, the researchers are working hard to make sure families can comfortably and knowledgeably participate in the clinical trial. Mahir Rahman spoke with Dr. Kolevzon about the study and where it hopes to go. Interested in joining the study? Go here to learn more.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326443/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450831/

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What is happening in research around employment for people with ASD?

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This week, Melissa Scott from Curtin University, a partner in the international policy brief on employment for people with autism, discusses the first paper out of this collaboration:  a scoping review of the existing research out there on employment practices.  Surprisingly, there was one crucial element missing as a focus in all the intervention studies  –  the environment.  Dr. Scott discusses what else was learned from this scoping review, and how the findings can help people with autism not just obtain, but maintain employment, through constructive policy.   ASF is a proud partner on this policy brief, and Curtin University has been an amazing collaborator.

https://www.ncbi.nlm.nih.gov/pubmed/30073870

 

 

 

 

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What is the can do vs. the will do of autism?

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Often overlooked in intervention studies, it is becoming increasingly clearer that adaptive behavior, the “will do” vs. the “can do” of functioning, should receive more focus.  In people with autism and high IQ, cognitive ability, the “can do” is higher than adaptive behavior, the “will do”.  Why?  The key in new research from the National Institutes of Health may be social abilities.  Another study this week from Children’s Hospital of Philadelphia in adult  with high IQ demonstrates that social motivation may be the key to improving social skills and socialization in people with ASD.

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The good, the bad and the ugly about medication use in ASD

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This week’s podcast summarizes recent evidence on why there is good and bad in treating autism with medication, but there is also lots of ugly.  While new medications are being developed and researchers are looking into new ways of measuring change across time time, medications are not effective in treating the core symptoms of autism and they have pretty harsh side effects which, you guessed it, are dealt with by prescribing more medications.  There are a lot of reasons to be hopeful about the future of medication use in autism, but lots of reasons to feel frustrated too.

 

Here are some of the articles that were cited:

https://www.ncbi.nlm.nih.gov/pubmed/23101743

https://www.ncbi.nlm.nih.gov/pubmed/25885012

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520775/

 

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Chromosome 15-apallooza

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One of areas of genetic interest of autism is a region of chromosome 15.  Only about 3% of people with autism have the mutation, but 80% of those with the mutation have autism.  It is so important that people with duplications of this area have formed their own advocacy group called the Dup15 Alliance.  I was honored to attend their family an scientific meeting and give a summary of what scientists have learned about autism through studying this chromosome, how kids with this mutation and autism are similar and different from those with autism but not the mutation, how the families are managing life threatening seizures, what the gene does, what the brains look like, and how mutations of this chromosome do in fact interact with the environment.  Thank you to the scientists who study this area and the very brave, selfless and amazing parents who I talked to.

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Why is there a link between c-sections and autism?

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Happy New Year!  Over the holiday break, a the largest study so far including the most number of countries analyzed the risk of having a c-section and autism.  They found a consistent increase risk that wasn’t due to cause of the c-section or the age of the infant (preemie or term).  So what is going on?  This week’s podcast warns against the unintended consequences of linking c-sections to autism and offers an explanation of the findings in addition to what the study authors provide.