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Research for the end of Autism Action Month

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In honor of the last week of Autism Awareness/Acceptance Month, we review two new scientific findings that call for more awareness and action, and less acceptance of the status quo. First: sex differences in autism are not well understood, and as it turns out, the influences on a diagnosis are different. Males have a higher rate of heritability compared to females. Second, those with rare genetic disorders have very few options for treatment, but a new study promises hope for more personalized approaches. The researchers use Timothy Syndrome as an example of how cells can start to function properly through a targeted approach which focuses on a small part of a gene. This is potentially life saving for individuals with this disorder.

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38630491/

https://www.nature.com/articles/s41586-024-07310-6

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The ASF Year End Review of Science

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Just three days before 2024, ASF provides a summary of the the highlights of scientific discoveries and how they have translated into tools families can use. They include ways to speed up diagnosis and reduce waitlists, study of the brains in females and clinical recommendations for helping autistic females at birth, evidence of better practices around intervention and supports, and a review of the numbers of people who have a diagnosis. It isn’t comprehensive and if something was missed, our apologies, but the summary is 20 minutes.

You can read the text here: https://autismsciencefoundation.org/2023-year-end-review/

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Is Autism Inflammation Nation?

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Several studies have linked the immune system to autism, but how are they connected? Two new studies this week illustrate differences in immune function in those with a diagnosis compared to those without, and also find differences in the blood of of pregnant mothers who go on to have an autistic child. Women who go on to have autistic girls show higher levels and more inflammatory markers than mothers who go on to have boys, the finding of elevated IL1 is now a finding that has been replicated across countries. However, it’s too early to tell if this information can be used to help with a diagnosis and it’s probably not specific to autism. But the message is the same as it was before: getting sick during pregnancy is not great. Get vaccinated! Stay away from sick people and wash your hands.

https://pubmed.ncbi.nlm.nih.gov/35110990/

https://pubmed.ncbi.nlm.nih.gov/34987169/

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Eating Disorders and Feeding Disorders in ASD

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It’s estimated that anywhere from 10%-30% of females on the spectrum also suffer from an eating disorder, and that autistic traits are high (even without a diagnosis of ASD) in those with eating disorders. There is clearly crossover in the underlying biology somehow, but while that is being determined – help for those with ASD and eating disorders is not waiting. There are many obstacles for autistic women to receive help for their eating disorders, and this podcast outlines the overlap between ASD and ED, and describes what could help women on the spectrum who experience eating disorders.

https://pubmed.ncbi.nlm.nih.gov/33653157/

https://pubmed.ncbi.nlm.nih.gov/34193255/

https://pubmed.ncbi.nlm.nih.gov/34264484/

https://pubmed.ncbi.nlm.nih.gov/33588579/

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ASD in the “next generation” of siblings

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Times have changed. Once, parents of a child with autism were concerned about autism in younger siblings. Now those parents are grandparents, and worried about autism in their children’s children. Siblings of autistic adults are considering having children of their own and wondering what they should be prepared for when they have kids of their own. This week, Natasha Marrus from Washington University School of Medicine talks about her new study looking at the increase in probability of ASD in infants who have an aunt or an uncle with ASD. The results are not surprising, but they do have implications for actionable steps.

https://www.sciencedirect.com/science/article/pii/S0006322320313846?via%3Dihub

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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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Understanding the hard to research

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What do Princess Kate and Amy Schumer have in common, and what does it have to do with autism?  The answer:  Hyperemesis Gravidum.  It’s linked to autism, but not strongly, but it does show more evidence of significant overlap between many neuropsychiatric issues and disorders.

More importantly though, those with low verbal ability and low cognitive function are harder to study than most people with autism.  Two new research studies documented what they had to do to make studies in this population possible, and how this group was different from those with average IQ and some words.  One looked at brain structure, and the other was a treatment for minimally verbal girls with autism.

The HG study:  https://www.ncbi.nlm.nih.gov/pubmed/30594672

The minimally verbal girls study https://www.ncbi.nlm.nih.gov/pubmed/30607780 

The imaging study:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307191/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307191/

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What is autism? It’s changing.

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This week, the Autism and Developmental Disabilities Network, or ADDM, was used to look at the changes across time in co-occuring conditions in people with autism, like ADHD, depression, anxiety, language delay and other developmental delay.  They found the frequency of 8 year olds with autism with these co occurring conditions is increasing.  So is the percent of people with autism with intellectual disability.  The data continues to show that in many people, what was autism 20 years ago, is not the same autism seen today.  While depression and anxiety have already been established as co occurring issues, things like hoarding are just starting to be examined.   These results suggest that co-occurring conditions may be one of the features of autism that can separate people into different groups, to improve intervention and treatment opportunities.

https://www.ncbi.nlm.nih.gov/pubmed/30227350

https://www.ncbi.nlm.nih.gov/pubmed/30178724

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What are PCOS and DDT, and what do they have to do with autism?

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Two new studies came out this week that implicates the role of the endocrine system in autism.  The endocrine system which regulates hormones in your body, also has a key role in brain development early on in fetal and child development.   PCOS is a metabolic condition and DDT is a toxic chemical banned years ago, but both are linked to the endocrine system, both are bad for many reasons, and both are linked to autism.  These studies provide evidence that we should #savetheEPA and be aware of medical and environmental factors which do not cause, but contribute to autism.  Also, PCOS is linked to autism in adult women, so ladies – if you show signs of PCOS, please talk to a doctor!

PCOS study:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068102/  

DDT study:  https://ajp.psychiatryonline.org/doi/pdf/10.1176/appi.ajp.2018.17101129

PCOS blog:  https://www.rmanj.com/lifting-the-fog-on-polycystic-ovary-syndrome-pcos/

http://www.panna.org/resources/ddt-story