Atypical Regional Accent in Autistic Children: A Perception Study.

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.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

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.

"To me, it was Just a Vice". Stigma and Other Barriers to Gambling Treatment in Piedmont, Italy.

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.