Breakthrough Research Uncovers Multiple Autism Subtypes with Unique Traits
UNITED STATES, JUL 10 – Researchers linked behavioral and developmental traits to distinct genetic profiles in 5,392 autistic children, identifying four autism subtypes with varying challenges and genetics.
- On July 9, a study published in Nature Genetics reported that scientists analyzing data from more than 5,000 children enrolled in the SPARK autism cohort identified four clinically and genetically distinct autism subtypes.
- This advancement built on previous genetic studies and used a person-centered model analyzing more than 230 phenotypic traits to overcome past limitations in autism genetics.
- The four subtypes—Moderate Challenges, Broadly Affected, Social/Behavioral Challenges, and Mixed ASD with Developmental Delay—differ in clinical features, developmental trajectories, and genetic profiles.
- Natalie Sauerwald, co-lead author, emphasized that autism is not explained by a single biological pathway but rather involves several unique and separate genetic and biological mechanisms.
- These findings suggest new pathways for precision medicine in autism by enabling targeted monitoring, personalized treatment, and tailored support based on subtype-specific biology.
12 Articles
12 Articles
Autism affects 8,000 babies every year in France and affects 1 to 2% of births. Specialists are still deprived of this disease and some profiles are still unknown, such as pathological avoidance syndrome. - What is the pathological avoidance syndrome of demands, this unknown profile of autism? (Health and well-being).
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
Unraveling the phenotypic and genetic complexity of autism is extremely challenging yet critical for understanding the biology, inheritance, trajectory and clinical manifestations of the many forms of the condition. Using a generative mixture modeling approach, we leverage broad phenotypic data from a large cohort with matched genetics to identify robust, clinically relevant classes of autism and their patterns of core, associated and co-occurri…


Major autism breakthrough could revolutionise treatments and care
The ‘person-centred’ research found four distinct subtypes of autism that researchers believe could be vital in understanding the biology of the genetic condition
Breakthrough research uncovers multiple autism subtypes with unique traits
Researchers at Princeton University and the Simons Foundation have identified four clinically and biologically distinct subtypes of autism, marking a transformative step in understanding the condition's genetic underpinnings and potential for personalized care.
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