Impact of the COVID-19 lockdown on patients and families with Dravet syndrome

We explored the impact of coronavirus virus 2019 (COVID-19) pandemic on patients with Dravet syndrome (DS) and their family. With European patient advocacy groups (PAGs), we developed an online survey in 10 languages to question health status, behavior, personal protection, and health services before and after lockdown. Approximately 538 European PAG members received electronic invitations. Survey ran from April 14, to May 17, 2020, with 219 answers; median age 9year 10months. Protection against infection was highly used prior to COVID-19, but 88% added facemask-use according to pandemic recommendations. Only one patient was tested positive for COVID-19. Most had stable epilepsy during lockdown, and few families (4%) needed emergency care during lockdown. However, behavior disorder worsened in over one-third of patients, regardless of epilepsy changes. Half of appointments scheduled prior to lockdown were postponed; 12 patients (11%) had appointments fulfilled; and 39 (36%) had remote consultations. Responders welcomed remote consultations. Half of responders were unsatisfied with psychological remote support as only few (21 families) received this support. None of the five of patient in clinical trials stopped investigational treatment. Prior adoption of protective measures against general infection might have contributed to avoiding COVID-19 infections. Protocols for the favored remote contact ought to now be prepared

Latent classes of emotional and behavioural problems in epidemiological and referred samples and their relations to DSM-IV diagnoses

Researchers\u2019 interest have recently moved toward the identification of recurrent psychopathological profiles characterized by concurrent elevations on different behavioural and emotional traits. This new strategy turned to be useful in terms of diagnosis and outcome prediction. We used a person-centred statistical approach to examine whether different groups could be identified in a referred sample and in a general-population sample of children and adolescents, and we investigated their relation to DSM-IV diagnoses. A latent class analysis (LCA) was performed on the Child Behaviour Checklist (CBCL) syndrome scales of the referred sample (N = 1225), of the general-population sample (N = 3418), and of the total sample. Models estimating 1-class through 5-class solutions were compared and agreement in the classification of subjects was evaluated. Chi square analyses, a logistic regression, and a multinomial logistic regression analysis were used to investigate the relations between classes and diagnoses. In the two samples and in the total sample, the best-fitting models were 4-class solutions. The identified classes were Internalizing Problems (15.68%), Severe Dysregulated (7.82%), Attention/Hyperactivity (10.19%), and Low Problems (66.32%). Subsequent analyses indicated a significant relationship between diagnoses and classes as well as a main association between the severe dysregulated class and comorbidity. Our data suggested the presence of four different psychopathological profiles related to different outcomes in terms of psychopathological diagnoses. In particular, our results underline the presence of a profile characterized by severe emotional and behavioural dysregulation that is mostly associated with the presence of multiple diagnosis

Ultrassom FAST- aplicabilidade em pacientes hemodinamicamente instáveis na emergência: FAST ultrasound - applicability in hemodynamically unstable patients in emergency

Objetivo: Compreender a importância do uso do FAST e eFAST como meio diagnóstico e conduta no paciente hemodinamicamente instável vítima de trauma. Método: Trata-se de uma revisão sistemática realizada através da pesquisa no banco de dados BVS com acesso ao PubMed, Medline e SciElo, entre o período de 2009 a 2022. Resultados: Foram selecionados 11 artigos que abordavam de forma detalhada o tema proposto. Desta analise pode-se entender a facilidade da ultrassonografia beira leito como método diagnóstico de líquido livre intra-abdominal e achados de trauma torácico em pacientes instáveis hemodinamicamente, com alta sensibilidade e especificidade, evitando-se procedimentos invasivos desnecessários. Conclusão: Entende-se por fim que a utilização do FAST e o eFAST auxiliam no diagnóstico inicial do paciente vítima de trauma e de forma mais rápida e barata que a utilização da tomografia computadorizada

A registry for Dravet syndrome: The Italian experience

Objectives: We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality. / Methods: Standardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis. Patients were prospectively enrolled, at registry starting, but historical retrospective data were also included. / Results: At present, 281 individuals with DS and a confirmed SCN1A mutation are included. Most patients have data available on epilepsy (n = 263) and their overall neurological condition (n = 255), based on at least one follow-up update. Median age at first clinical assessment was 2 years (IQR 0–9) while at last follow-up was 11 years (IQR 5–18.5). During the 7-year activity of the registry, five patients died resulting in a mortality rate of 1.84 per 1000-person-years. When analyzing clinical changes over the first 5-year follow-up, we observed a significant difference in cognitive function (P < 0.001), an increased prevalence of behavioral disorders including attention deficit (P < 0.001), a significant worsening of language (P = 0.001), and intellectual disability (P < 0.001). / Significance: The Residras registry represents a large collection of standardized national data for the DS population. The registry platform relies on a shareable and interoperable framework, which promotes multicenter high-quality data collection. In the future, such integrated platform may represent an invaluable asset for easing access to cohorts of patients that may benefit from clinical trials with emerging novel therapies, for drug safety monitoring, and for delineating natural history. Its framework makes it improvable based on growing experience with its use and easily adaptable to other rare and complex epilepsy syndromes

Hormonal background of physiological aggressiveness in psychologically healthy women

The aim of this study was to see whether or not physiological hormonal fluctuations during the menstrual cycle modulate normal aggressiveness in psychophysically healthy women. In 15 probands estrogens (E), progesterone (PROG) and free testosterone (FT) plasma levels were measured by immunochemiluminescence and levels of global aggressiveness and its subitems "verbal aggressiveness", "suspiciousness" and "resentments" were measured by the Buss-Durkee Rating Scale in the early follicular, midluteal and premenstrual phases of the cycle. E and PROG levels varied significantly along the menstrual cycle, while those of FT, of global aggressiveness (GA) and of its subitems did not change. Values of global aggressiveness did not correlate with any of the hormonal parameters studied. However, E values correlated positively with "verbal aggression" scores in the follicular phase and positively with "resentment" in the premenstruum, while PROG levels correlated negatively with "suspiciousness" and "resentment" in the premenstrual phase of the cycle. Hormonal and psychological changes from one phase to the next (Δ) revealed that Δ E in the second half of the cycle correlated negatively with "verbal aggressiveness", while Δ PROG from follicular to luteal and from luteal to premenstrual phases correlated negatively with "resentment". Thus, although aggressiveness did not seem to vary along the menstrual cycle, nor to correlate with hormonal changes, hormone secretions and fluctuations might possibly modulate some of the physiological aspects of the behavioral parameter. © 2009 Elsevier B.V