Publications by authors named "F Beccaria"

Autistic children are frequently said to speak with accents that markedly differ from those of their linguistic communities. To date, these anecdotal reports have never been tested or explained. We ran two perception studies using short audio recordings of autistic and typically developing children from the Campania region in Italy.

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Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense variants, three maternally inherited protein-truncating variants, and 12 maternally inherited missense variants. Affected subjects present with a neurodevelopmental disorder characterized by diverse neurological abnormalities, mostly delays in different developmental domains, but also distinct neuropsychiatric signs and epilepsy. Heterozygous carrier mothers are clinically unaffected.

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Article Synopsis
  • * It can be classified based on its cause, distribution in the body, or the brain region involved, which helps determine observable patterns and treatment options.
  • * The review highlights myoclonus as often linked to epilepsy and aims to provide insights on its neurophysiology and classification, offering practical strategies for clinicians in diagnosis and treatment.
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In Piedmont (northwestern Italy), as in the rest of the Western world, only a small percentage of the estimated problem gamblers (10-20%) turn to a treatment service to overcome their addiction issues. The study sought to gain a better understanding of the cultural factors that stand in the way of seeking help, thorough qualitative in-depth individual interviews with gamblers both in and out of treatment. A total of 30 interviews were conducted in three different health districts, most via video-call.

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Article Synopsis
  • The study investigates the neurodevelopmental outcomes in patients with developmental and epileptic encephalopathy (DEE), focusing on the relationship between neurodevelopment and epilepsy.
  • Researchers analyzed clinical data from 48 patients and found that seizure onset age influences developmental progress, with later onset linked to better outcomes, while seizure duration and remission age did not significantly affect development.
  • The results highlight two main disease trajectories—either early seizure remission or drug-resistant epilepsy—suggesting a wide range of neurodevelopmental impacts and the need for more focused future research on DEE.
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