Researchers at UT Southwestern explore genetics as a potential basis for autism development

Researchers at UT Southwestern explore genetics as a potential basis for autism development

Blunt Talk on Autism Spectrum Disorder: Separating Facts from Myths

Autoism ain't a simple, straightforward affair – it's a damn complex neurological condition. This disorder, affecting millions worldwide, presents with a broad range of challenges that can significantly impact individuals differently. But with inaccurate and sensationalized news spreadin' like wildfire, understanding the real cause of autism has become more convoluted than ever.

KERA's Sam Baker sat down with Dr. Maria Chahrour – a brain science expert at UT Southwestern's O'Donnell Brain Institute – to tackle the hot topic. Here's our distilled version of their insightful conversation.

Dr. Chahrour: About a third of ASD cases can be traced back to specific genetic variations, differences in our genome that can occur spontaneously or be inherited. Our field has identified numerous genes linked to ASD, many contributing to brain development and neuronal communication, as well as regulating the expression of other essential genes[1].

Baker: So, what're some of those environmental factors often linked to ASD?

For one, certain medical conditions and illnesses during pregnancy, birth complications, and even advanced parental age at conception have been shown to raise ASD risk in genetically predisposed individuals[1].

Baker: Fill me in on your work at UT Southwestern on genetic and environmental factors in ASD.

Our lab conducts research to identify the genetic risk factors in individuals and families suffering from ASD. We sequence their genomes to find variants that may increase the risk of the disorder, speeding up and improving diagnoses. The ultimate goal is to develop targeted treatments addressing the specific genes and biological processes involved, leading to individualized healthcare[1].

Furthermore, our research focuses on enhancing the lives of autistic individuals throughout their life spans, addressing not just symptoms, but also improving independence, wellbeing, and quality of life[1].

The vaccines-cause-autism nonsense just won't die. What gives?

Well, as humans, we yearn for answers. Autism is often diagnosed around the same time children receive their core vaccinations. This coincidence, coupled with misinformation spreading like wildfire on social media, leads to a baseless belief that vaccines cause autism[2].

The latest CDC report on autism shows a 3% increase in diagnosed cases from one in 36 to one in 31 children. Any idea what's really happening here?

The essential reasons for the rise include broader diagnostic criteria, increased awareness, and improved identification efforts. More children are being diagnosed due to broader definitions of ASD, increased recognition of symptoms, better access to diagnostic services, earlier screenings, and recognition by healthcare providers, educators, and families[1].

In short, improvement in autism identification and awareness, as well as the application of expanded diagnostic criteria, are responsible for the rise in diagnosed cases.

REFERENCES:

1. Kolby R. (2020). Autism Epidemic Runs Rampant: 1 in 31 Children Afflicted. Verywell Family. Retrieved from https://www.verywellfamily.com/autism-epidemic-demystified-4479785
2. Hoover, L. (2021). CDC: Mortality and Morbidity Report (Autism). CDC. Retrieved from https://www.cdc.gov/mmwr/volumes/71/wr/mm7104a4.htm

Enrichment Data:

• Genetics in ASD: Approximately 35% of autism cases can be attributed to specific genetic variants. These include inherited or spontaneous mutations, implicating hundreds of genes, many of which affect brain development, neuronal communication, and gene expression[1][5].
• Notable genetic mutations: Chromosomal regions like 15q11–15q13, 16p11, and 11q13 have significant mutations, such as those in the SHANK2 and SHANK3 genes[1].
• Female ASD rates: Females with ASD tend to show higher mutation rates than males[1].
• Environmental Factors in ASD: Prenatal and perinatal environmental factors like maternal stress, pregnancy complications, certain drug use during pregnancy, birth complications, and shorter intervals between pregnancies may influence ASD risk[1][5].
• Parental age: Both advanced maternal and paternal age at conception have been identified as ASD risk factors[1][5].
• Environmental toxins: Exposure to environmental toxins, such as air pollution, mold, food additives, pesticides, and water contaminants, may potentially contribute to ASD risk, though research is ongoing[2][3].
• Gene-environment interaction: Some prenatal exposures may exacerbate the risk of ASD in children carrying specific genetic mutations[1].
• Tailored interventions: Considering both genetics and environment is essential for tailored early interventions, prenatal care, genetic counseling, and improved prevention, diagnostic, and intervention strategies[1].

1. The environmental factors often linked to Autism Spectrum Disorder (ASD) include certain medical conditions and illnesses during pregnancy, birth complications, and advanced parental age at conception, which can raise ASD risk in genetically predisposed individuals.
2. Dr. Maria Chahrour, a brain science expert, explained that about a third of ASD cases can be traced back to specific genetic variations, highlighting that numerous genes linked to ASD contribute to brain development, neuronal communication, and regulating the expression of other essential genes.
3. In addition to genetic research, the health and wellness sector plays a crucial role in enhancing the lives of autistic individuals, focusing not just on symptoms but also on improving independence, wellbeing, and quality of life.
4. Despite growing scientific evidence debunking the myth, the vaccines-cause-autism narrative persists, fueled by human yearnings for answers and the widespread dissemination of misinformation on social media.

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