Survey of rehabilitation approaches and plans for individuals with dravet syndrome (RAPIDS) in Italy: Current practices and strategies to progress.

Dravet syndrome, a developmental and epileptic encephalopathy, manifests with varying degrees of cognitive and communication impairment, postural and movement disorders (such as ataxia, coordination issues, and crouch gait) and behavioural challenges (including attention deficit/hyperactivity, oppositional/defiant behaviour, and autistic traits). Rehabilitation is a valuable tool for most patients, typically prescribed to address the most pressing issues. However, current practices often fall short in proactively preventing and treating known challenges associated with the syndrome, as indicated by the latest literature, at different life stages. Furthermore, there is a notable lack of evidence regarding treatment types and efficacy specific to people with Dravet Syndrome. Conducted in collaboration with one of the Italian Patient associations, this national survey provides a comprehensive view of the rehabilitation landscape in Dravet Syndrome, as perceived by caregivers. It outlines the types of treatments for 51 patients, based on age and relevant clinical features. The findings reveal a heterogenous rehabilitation approach, only partly tailored to the presence of specific comorbidities, and underline numerous unmet needs. Compared to the past there is indirect evidence that more patients are offered early rehabilitation. Nonetheless, while nowadays speech therapy and neuropsychomotor therapy are nearly universal for children up to the age of 10, some begin physiotherapy and psychotherapy thereafter, with a majority discontinuing treatments. Therefore, families of adolescent and adult patients often face a lack of comprehensive support, predominantly offered when epilepsy is more challenging to control affecting rehabilitation adherence and effectiveness. Finally, a negligible minority is offered treatments such as neurovisual training, augmentative and alternative communication, and occupational therapy. Many of these considerations could apply to other developmental and epileptic encephalopathy with lifelong disability. This survey calls for more data collection on this important topic for more efficient allocation of rehabilitation resources.

Can contralateral prophylactic mastectomy and oophorectomy increase survival in BRCA-related breast cancer? Results from the Italian MUTina study.

INTRODUCTION: In the Emilia-Romagna region of Italy, a unique Hub and Spoke model was adopted to recognize BRCA-related breast cancer (BC) patients. Characteristics and outcomes of tumors identified by this model will be presented. METHODS: This multicenter retrospective cohort study involved patients diagnosed with BRCA-related BC identified in the Emilia-Romagna region between January 2000 and December 2013. Seven provinces collected data on patient and tumor characteristics; clinical and gene testing information were also registered. Comparisons between BRCA1 and BRCA2 BC were performed. To balance different variants to identify significant predictors of survival, an inverse probability of treatment weighting (IPTW) analysis on Cox regression was conducted. RESULTS: From 2000 to 2013, 284 BRCA-related BC were registered (171 BRCA1, 110 BRCA2, and 3 BRCA1 and BRCA2). BRCA1 were diagnosed at an earlier stage compared to BRCA2 (50.1 % vs 30 %, respectively, in stage I, P = 0.0015). BRCA2 patients underwent more up-front surgery (85 % vs. 74.9 %, P = 0.049) and less chemotherapy (69.1 % vs 88.9 %, P = 0.004) than BRCA1 patients. At 11.8 years median follow-up, BRCA1 patients developed more second contralateral BC (P = 0.09), while BRCA2 had more visceral relapses (P = 0.013). No differences in overall survival (OS) between BRCA1 and BRCA2 patients (P = 0.07) were found. An advantage in OS was independently seen for patients who underwent contralateral prophylactic mastectomy (P = 0.0001) and oophorectomy (P < 0.0001). CONCLUSIONS: In conclusion, adopting a homogeneous regional framework provides important information about prevention and treatment strategies of BRCA-related BC and suggests using maximal surgery to improve OS.

The Relationship between Language and Technology: How Screen Time Affects Language Development in Early Life-A Systematic Review.

Screen time refers to the amount of time a child is exposed to a screen, that is, television, computer, smartphone, or any other digital medium. Prolonged screen time in the first years of life may affect a child's cognitive abilities, especially language acquisition. A systematic review was conducted, following the PRISMA-P guidelines, with the aim to explore the available literature relating to the impact of screen time on children's language development. This review identified 18 articles. The articles reviewed showed that prolonged screen time and exposure to screens in the first 2 years of life can negatively affect language development and communication skills, in terms of comprehension and vocabulary range. In addition, overexposure to screens in the early years can affect overall cognitive development, especially attention to environmental stimuli, social experiences, problem solving, and communication with others, e.g., the alternance of rhythms and roles in a conversation. In conclusion, our systematic review supports the idea that preschool screen time has negative effects on children's cognitive and language development. Television seems to be the medium most detrimental to children's skills, as it is used in a passive manner and is often characterised by language and content that do not suit the child's processing mode. Future studies should increasingly focus on the digital media that children possess at an early age, such as mobile phones and tablets, and on how children relate to the online world, such as social networks.