Epilepsy-autism phenotype

“Because the autism phenotype may not follow the usual developmental trajectories in DEEs, the diagnosis can be challenging. However, prompt recognition of ASD in children with DEEs is important, and timely diagnosis is crucial to allow appropriate early intervention. The clinical presentation differs between patients with ASD who also have epilepsy and patients with DEEs who meet the criteria for ASD. In the former group, ASD is the primary diagnosis with co- occurring epilepsy, whereas in the latter group, DEE is the primary condition, and ASD symptoms are part of the broader neurodevelopmental impact of the underlying encephalopathy.”

Read the article: https://pubmed.ncbi.nlm.nih.gov/39985505/

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Unmet needs