‘Landmark study’ led by UNLV shows new path to treat, prevent autism
- A UNLV-led study led by professor Aukasz Sznajder discovered a new molecular pathway to autism and published it on April 21 in Nature Neuroscience.
- The research followed observations of high crossover between myotonic dystrophy, a genetic condition causing muscle weakness, and autism spectrum disorder.
- The study found that mutations in the DMPK gene, which causes myotonic dystrophy, also lead to mis-splicing of multiple autism-related genes, disrupting nervous system function.
- Around 60% to 90% of autism is genetic, and experts like Brumback and Sultan said the study identifies one mechanism among many, with Brumback calling it important for developing treatments targeting mis-splicing.
- This discovery may enable new diagnostic tools, screenings for autism in myotonic dystrophy patients, and future interventions despite ongoing debate about environmental contributions to autism.
21 Articles
21 Articles
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Can Genetics Predict Autism Intellectual Disabilities?
A new predictive model combining genetics with developmental milestones may help forecast which autistic children are at risk of developing intellectual disabilities. In a large study of over 5,600 children, researchers were able to correctly predict 10% of such cases and differentiate between low and high-risk groups twice as well as current methods.
Prevalence and Characteristics of Adolescents with Autism Spectrum Disorder in the New York-New Jersey Metropolitan Area
Almost all epidemiologic studies estimating autism spectrum disorder (ASD) prevalence have focused on school-age children. This study provides the first po
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