Factors That Influence Heterogeity and How

Understanding factors that make each person with autism different has been a challenge, affecting diagnosis, interventions and the way we think about autism in general. Researchers at Istituto Italiano di Tecnologia, Rovereto, Italy, used computers to see how language, intellectual ability, motor and adaptive functioning grouped individuals into different categories. It turns out there are two groups – one group that improves over time and outperforms the other group consistently even in early life. The other group continues to struggle. These factors are not autism-specific, but do influence the creation of these different groups that are different biologically as well as behaviorally. This week’s podcast is an interview with the researchers on what it means for the future of understanding what might help what person at what time in their life.

The publication is open access and includes the model so their findings can be replicated widely: https://molecularautism.biomedcentral.com/articles/10.1186/s13229-024-00613-5

Resilience and heterogeneity in ASD

Everyone knows that every person with autism has their own unique strengths and challenges. Autism is heritable, and there are over 100 genes associated with autism. There are also an unknown number of environmental factors influencing outcome, so the heterogeneity is not necessarily surprising. But why would two people with the same genetic mutation have variable outcomes? Researchers led by the Institut Pasteur in France looked at the range of outcomes in people with a rare genetic mutation associated with autism, focusing on those without an autism diagnosis. This week’s podcast is an interview with the lead author of the paper, Thomas Rolland, PhD from France. The presence of the variants in those without ASD were associated with lowered cognitive ability, education level and employment status. The bottom line of these finds are that genes affect proteins which form the brain and control brain function. However, there are multiple factors that influence outcome. Some of them may be sex or gender, prenatal exposures. It’s not just one thing, there are many things influencing an autism diagnosis.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353945/pdf/41591_2023_Article_2408.pdf

Genetics does not equal eugenics

Sometimes when the autism community hears the words “genetics research”, it conjures up images of using genetics to eliminate people with autism. In fact, that’s not the goal of genetics research, nor is it even possible. Recently, several new studies were publish which illustrate how genetics can be used to help people understand their diagnosis, and receive more targeted supports. Special guest Jonathan Sebat from UCSD provides perspective on these findings and why genetics research is misunderstood.

https://pubmed.ncbi.nlm.nih.gov/35654973/

https://pubmed.ncbi.nlm.nih.gov/35654974/

https://www.genome.gov/event-calendar/irreducible-subjects-disability-and-genomics-in-the-past-present-and-future

COVID-19 is especially deadly to the IDD community

In a study over over 64 MILLION people across the US, COVID-19 has been shown to be most deadly to those with an intellectual disability. This was once a theory, now it is a proven fact. Take action! Write your governor and demand that intellectual disability and neurodevelopment disorders be put on the priority list for vaccination in your state. A sample letter is below:

As a person or family member affected by intellectual disabilities and neurodevelopmental disorders, we ask that you include all high-risk patients and caregivers living with these conditions as a priority population in your immediate prioritization of FDA- approved COVID-19 vaccines. 

Intellectual disabilities have extensive, and often severe comorbidities. Early prevention and intervention are paramount, and this vaccine is critical for our high-risk community and public health. Families affected by IDD and NDD live daily with conditions including: cardiopulmonary dysfunction; neurological deficits; debilitating seizures; vision and/or hearing loss; gastrointestinal issues; autism spectrum disorder.  A recent publication in the New England Journal of Medicine demonstrated the high mortality of COVID 19 in people with IDD and since groups with lower risk of mortality have been listed as high priority conditions, we request that those with IDD be added immediately.  As leaders and caregivers in this community, we strongly believe individuals living with IDD who require daily hands-on care, and their caregivers should be included in the high-risk population for risk for catastrophic outcomes due to infection of COVID-19. The effects of COVID-19 could be devastating for individuals and family members, of all ages, who are constantly at high-risk for neurological and organ damage caused by potential infection. During the pandemic, these families have lost vital resources (such as physical, occupational and speech therapies) and myriad interventions otherwise afforded to them. Compounded by COVID-related delays in routine public and private care management due to risk of exposure, many people have experienced regression, and the only way to safely resume these crucial interventions is through immediate vaccination.  Beyond the direct risk of Covid-19, the pandemic has had negative effects on the ability of individuals with IDD to receive health care and daily support that they need.

We urgently call on you to prioritize all people and family members and caregivers of people with IDD and NDD to receive the COVID 19 vaccine.

https://pubmed.ncbi.nlm.nih.gov/33676088/

NEJM article open access: https://catalyst.nejm.org/doi/full/10.1056/CAT.21.0051

More on why intellectual disability matters.

There have been more than a few podcasts lately about why intellectual abilities (or disability) are important in understanding ASD. It will probably be a theme in the end of year summary. This week, intellectual ability affects risk of dying from COVID and how anxiety is measured. Some studies show that increasing cognitive ability increases chances of having anxiety, although, because it is not always measured appropriately in those with intellectual disability, this linear relationship may not hold. However, while it is important in anxiety and COVID, it may have less to do with how pain is expressed. Podcast links below:

If you want to register for the December 9thwebinar about the COVID Vaccine:  

https://www.chop.edu/centers-programs/vaccine-update/vaccine-webinar-series

https://pubmed.ncbi.nlm.nih.gov/33198481/

https://pubmed.ncbi.nlm.nih.gov/33175317/

Lumping or splitting ASD with intellectual disability? What’s the difference?

Separating out those with ASD with an intellectual disability from those with ASD without an intellectual disability can more precisely identify factors that influence probability of having a child with ASD as well as factors which can prevent or preclude services. For example, in those without an intellectual disability, there seems to be stronger heritable component. Mothers and fathers with ASD were more likely to have a child with ASD without an ID compared to those with an ID. Also, children of immigrant parents may be missed and lack essential services if they do not have more profound identifiable symptoms like ID. For the sake of better improving research and services for everyone, is it time to stop lumping and start splitting?

https://pubmed.ncbi.nlm.nih.gov/33103358/

https://pubmed.ncbi.nlm.nih.gov/33049777/

Cognitive ability in ASD: why it matters

Not all people with autism spectrum disorder are the same, obviously. Are there things that can predict positive outcome? Are they different based on something like cognitive ability? And what determines cognitive ability and how early is it seen? Have other studies lumped all the autisms into one pile which has represented what people along the spectrum at different points actually need? This podcast tackles it all this week.

A deeper dive into racial disparities in ASD diagnosis

The racial and ethnic disparities in the diagnosis of ASD has always been unacceptable, but it’s been hard to figure out. This week, researchers published their findings from a close look at 500 African American families with ASD to understand what the barriers were to a timely diagnosis. The results are not surprising, but they are also alarming. Some of these families may benefit from telehealth in the future. Telehealth is not perfect, but it turning out to be helpful. For example, it may be beneficial in treating insomnia in people with ASD. Delivering cognitive behavioral therapy online resulted in improvements in sleep in adolescents with ASD. It isn’t a panacea, but it seems to be more helpful than people gave it credit for before the pandemic.

https://pubmed.ncbi.nlm.nih.gov/32839243/

https://pubmed.ncbi.nlm.nih.gov/32838539/

SPARK it up

You may have heard of SPARK, it is the largest genetics research project in autism spectrum disorders.  But have they found anything?  Yes!  Pam Feliciano of SPARK discusses what the project is, what a pilot study has found, and how the results might help families with ASD.  In addition, a different but complementary study identified new genes associated with autism.  Given that one of them is a target of environmental factors, it’s time to spark up studies looking at gene x environment interactions as well.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707204/

https://escholarship.org/uc/item/36f811zq

https://www.tandfonline.com/doi/full/10.1080/15592294.2019.1656158

 

What’s new in the immune system and ASD

This holiday weekend always triggers a reincarnation, a resurrection of the vaccine – autism hypothesis.  Many of you have read about the measles epidemics that are hitting many areas of the country.  But besides vaccines, there are other aspects of the immune system that may be linked to autism in some people.  The include family history of autoimmune disorders as well as specific genetic mutations that confer protection against subtypes of ASD.  This week’s ASF podcast will explore these theories and present different ideas on how the immune response is involved in autism, and if it is at all.

https://www.ncbi.nlm.nih.gov/pubmed/30976114 

https://www.ncbi.nlm.nih.gov/pubmed/30975444