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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. The variety of Italian to which children are exposed in this region markedly differs from those spoken in the rest of Italy. Participant responses about the children's geographical origin show: (a) That autistic children's accent is devoid of the regional features of their community; (b) resembles the standard variety used in cartoons and child television programs. The judgments about children's accents are, furthermore, independent of the overall perception of speech atypicality. This paper shows that the accent of autistic children may diverge from that of their caregivers and peers because of the lasting influence of non-interactional, screen sources on their speech., (© 2024 The Author(s). Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

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. KCND1 encodes the α-subunit of Kv4.1 voltage-gated potassium channels. All variant-associated amino acid substitutions affect either the cytoplasmic N- or C-terminus of the channel protein except for two occurring in transmembrane segments 1 and 4. Kv4.1 channels were functionally characterized in the absence and presence of auxiliary β subunits. Variant-specific alterations of biophysical channel properties were diverse and varied in magnitude. Genetic data analysis in combination with our functional assessment shows that Kv4.1 channel dysfunction is involved in the pathogenesis of an X-linked neurodevelopmental disorder frequently associated with a variable neuropsychiatric clinical phenotype., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Myoclonus classically presents as a brief (10-50 ms duration), non-rhythmic jerk movement. The etiology could vary considerably ranging from self-limited to chronic or even progressive disorders, the latter falling into encephalopathic pictures that need a prompt diagnosis. Beyond the etiological classification, others evaluate myoclonus' body distribution (i.e., clinical classification) or the location of the generator (i.e., neurophysiological classification); particularly, knowing the anatomical source of myoclonus gives inputs on the observable clinical patterns, such as EMG bursts duration or EEG correlate, and guides the therapeutic choices. Among all the chronic disorders, myoclonus often presents itself as a manifestation of epilepsy. In this context, myoclonus has many facets. Myoclonus occurs as one, or the only, seizure manifestation while it can also present as a peculiar type of movement disorder; moreover, its electroclinical features within specific genetically determined epileptic syndromes have seldom been investigated. In this review, following a meeting of recognized experts, we provide an up-to-date overview of the neurophysiology and nosology surrounding myoclonus. Through the dedicated exploration of epileptic syndromes, coupled with pragmatic guidance, we aim to furnish clinicians and researchers alike with practical advice for heightened diagnostic management and refined treatment strategies. PLAIN LANGUAGE SUMMARY: In this work, we described myoclonus, a movement characterized by brief, shock-like jerks. Myoclonus could be present in different diseases and its correct diagnosis helps treatment., (© 2024 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

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. Data were then analyzed using an abductive approach. The findings appear to indicate that the processes of stigma affecting problem gamblers and public gambling treatment services are the main barriers to seeking help. According to the interviewees, awareness of the problem is a necessary but not sufficient motivator for embarking on treatment, since social stigmatization leads them to hide the problem. Moreover, self-stigmatization processes seem to undermine the sense of self-efficacy that plays a key role in recovery. To encourage help-seeking, the study thus suggests that priority should be given to efforts to reduce stigma, i.e., through informational and educational measures together with advocacy interventions, which aim primarily to reframe the gambling problem, shifting responsibility from the individual to the collective level., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Focus group data from 92 youths from Italy and the U.S.A. indicate that Italians and Americans differ in perceived threshold of acceptability of drinking to excess. Youth from the U.S.A. were more accepting of intoxication than Italian youth, reflecting features of each respective dominant drinking culture. Alcohol gender double standards existed in both countries and were conceptually connected to sexuality. However, the social construction behind such connections differed across the two groups: focusing on harms to the woman in the U.S.A. and the respectability of her social group in Italy.

Within the past several years, a considerable body of research on adherence to diabetes regimen has emerged in public health. However, the focus of the vast majority of these studies has been on the individual traits and attitudes affecting adherence. Still little is known on the role of the social and physical context in supporting or hindering diabetes self-management, particularly from a qualitative standpoint. To address these limitations, this paper presents the findings of a Photovoice study on a sample of 10 type 2 diabetic older adults living in a deprived neighbourhood of an Italian city. The findings reveal that the possibility to engage in diet, exercise and blood sugar monitoring seems to be more affected by physical and social elements of the respondents' environment than by the interviewees' beliefs and attitudes. Both environmental barriers and social isolation emerge as barriers to lifestyle changes and self-care activities related to blood sugar monitoring. The predominance of bonding social capital, the scant level of trust and the negative perception of local health services result in a low level of social cohesion, a limited circulation of health information on diabetes management and, consequently, in poor health outcomes.

Background and Objectives: Clinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse. We aim to trace the neurodevelopmental trajectories in individuals with STXBP1 -DEE and dissect the relationship between neurodevelopment and epilepsy., Methods: Retrospective standardized clinical data were collected through international collaboration. A composite neurodevelopmental score system compared the developmental trajectories in STXBP1 -DEE., Results: Forty-eight patients with de novo STXBP1 variants and a history of epilepsy were included (age range at the time of the study: 10 months to 35 years, mean 8.5 years). At the time of inclusion, 65% of individuals (31/48) had active epilepsy, whereas 35% (17/48) were seizure free, and 76% of those (13/17) achieved remission within the first year of life. Twenty-two individuals (46%) showed signs of developmental impairment and/or neurologic abnormalities before epilepsy onset. Age at seizure onset correlated with severity of developmental outcome and the developmental milestones achieved, with a later seizure onset associated with better developmental outcome. In contrast, age at seizure remission and epilepsy duration did not affect neurodevelopmental outcomes. Overall, we did not observe a clear genotype-phenotype correlation, but monozygotic twins with de novo STXBP1 variant showed similar phenotype and parallel disease course., Discussion: The disease course in STXBP1 -DEE presents with 2 main trajectories, with either early seizure remission or drug-resistant epilepsy, and a range of neurodevelopmental outcomes from mild to profound intellectual disability. Age at seizure onset is the only epilepsy-related feature associated with neurodevelopment outcome. These findings can inform future dedicated natural history studies and trial design., (Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)