ABSTRACT
Dravet syndrome (DS) is a rare developmental and epileptic encephalopathy. Infants with DS are especially vulnerable to the detrimental effects of prolonged and frequent seizures on development. Fenfluramine (FFA) is approved for the treatment of DS in patients aged 2 years and older. This study aims to evaluate the safety and efficacy of FFA in patients with DS younger than 2 years. We analyzed safety, tolerability, seizure, and neuropsychological outcome in a real-world setting. Developmental profile was investigated using Griffiths Mental Development Scales (GMDS). Five patients received FFA at a mean age of 14.9 months (9.6-18.6). Median follow-up was 13 months (interquartile range [IQR] = 12.9-24.4). All patients showed good tolerance to FFA. No significant variation of body mass index or echocardiographic issue was observed. Monthly median convulsive seizure frequency (MCSF) was 1.71 (IQR = 1.56-3.27) at the 6-month baseline period and .92 (IQR = .43-1.28) at last follow-up, with a median 54.43 (IQR = 40.91-60.83) percentage reduction in MCSF. Two of five patients had a performance improvement on GMDS subscales. Overall, the use of FFA below the age of 2 years in our small sample of patients was safe and represents a promising opportunity for seizure control and for protection of the neurodevelopmental outcome.
Subject(s)
Epilepsies, Myoclonic , Fenfluramine , Infant , Humans , Fenfluramine/adverse effects , Anticonvulsants/therapeutic use , Treatment Outcome , Epilepsies, Myoclonic/drug therapy , Seizures/drug therapyABSTRACT
Introdução: Moçambique é um País em vias de desenvolvimento cujo maior desafio é diminuir a mortalidade materno e infantil, tanto que actividades conjuntas entre a comunidade e o serviço de saúde são essenciais para uma assistência e bem-estar da população. Foi desenvolvido no distrito de Montepuez e Balama de 2020 a 2022 um projecto "Os primeiros 1000 dias" que visava proporcionar cuidados básicos para a mulher e a criança. Métodologia: Foi desenvolvida uma avaliação do tipo qualitativo e usado o método quali-quantitativo quanto a abordagem e descritivo quanto aos objectivos. Foram conduzidos em grupos focais compostos por 10 mães que tiveram parto no período entre Junho de 2021 a Junho de 2022, totalizando 60 mulheres. Resultados: Relativo a idade um (2%) era menor de 14 anos e 23 (38%) tinham 19 a 25 anos. 36.7% (22/60) sabiam do significado e importância do CPN, 21.7% (13/60) sabiam e não frequentavam, 3.3% (2/60) sabiam, mas não acharam importante. Sobre acessibilidade aos serviços, 46.6% (28/60) referiram que a distância associada a questões logísticas condiciona o acesso. 70.0% (42/60) referiram que estão totalmente satisfeitas pelos serviços prestados. Sobre disponibilidade de recursos e insumos no dia do parto, 46.7% (28/60) elogiaram, 33.3% (20/60) referiram falta de alguns serviços como água, electricidade, banheiros e camas. Sobre aceitabilidade e vontade de poder frequentar a US face ao comportamento dos profissionais de Saúde e aos cuidados oferecidos, 73.3% (44/60) tiveram uma resposta totalmente positiva no que diz respeito a usar a mesma unidade sanitária caso estejam grávidas. Conclusão: As mulheres dos distritos de Balama e Montepuez estão satisfeitas pelos serviços prestados pelas US. Tanto que, 73.3% (44/60) garantem que voltariam ao mesmo hospital para receber cuidados de saúde.
Introduction: Mozambique is a developing country whose biggest challenge is to reduce maternal and child mortality, so much so that joint activities between the community and the health service are essential for the assistance and well-being of the population. A project "The first 1000 days" was developed in the district of Montepuez and Balama from 2020 to 2022, which aimed to provide basic care for women and children. Methods: In the evaluation, the qualitative-quantitative method was used. It was conducted in focus groups made up of 10 mothers who gave birth between June 2021 and June 2022, totaling 60 women. Results: Regarding age, one (2%) was under 14 years old and 23 (38%) were between 19 and 25 years old. 36.7% (22/60) knew the meaning and importance of the CPN, 21.7% (13/60) knew and did not attend, 3.3% (2/60) knew, but did not think it was important. Regarding accessibility to services, 46.6% (28/60) reported that the distance associated with logistical issues affects access. 70.0% (42/60) reported that they were completely satisfied with the services provided. Regarding the availability of resources and supplies on the day of birth, 46.7% (28/60) praised it, 33.3% (20/60) reported a lack of some services such as water, electricity, bathrooms and beds. Regarding acceptability and desire to be able to attend the US in light of the behavior of healthcare professionals and the care offered, 73.3% (44/60) had a completely positive response with regard to using the same healthcare unit if they are pregnant. Conclusion: Women in the districts of Balama and Montepuez are satisfied with the services provided by the US. So much so that 73.3% (44/60) guarantee that they would return to the same hospital to receive healthcare.
Subject(s)
Female , Pregnancy , Adult , Young AdultABSTRACT
BACKGROUND: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare and disabling immunomediated radiculoneuropathy. Its worldwide epidemiology is heterogeneous and, in adults, CIDP prevalence varies from 0.6 to 9 cases per 100,000 population. Juvenile CIDP (jCIDP) is even rarer, with age-specific prevalence rates varying from 0.23 to 1.26 owing to different diagnostic criteria (American Academy of Neurology [AAN] and European Federation of Neurological Societies/Peripheral Nerve Society [EFNS/PNS]), different age grouping or, genuine differences. OBJECTIVES: We assessed jCIDP incidence and prevalence in Sardinia, an area at very-high risk for autoimmune diseases, using comparable methods. DESIGN: The study area was the northern Sardinia, insular Italy, with 491,571 inhabitants and a pediatric population (0-18 years) of 79,086 individuals. RESULTS: On prevalence day (December 31, 2019) the total crude, age-specific prevalence rate were 6.32 per 100,000 according with AAN criteria, 7.58 per 100,000 population with European Neuromuscular Center (ENMC) criteria, and 8.85 per 100,000 population with both 2006 and 2010 EFNS/PNS criteria. Crude mean incidence rate were 0.42 per 100,000 per year with AAN criteria, 0.50 per 100,000 per year with ENMC criteria, and 0.59 per 100,000 per year using 2006 and 2010 EFNS/PNS criteria. Of the eight patients, six had typical CIDP, one had multifocal-acquired demyelinating sensory and motor neuropathy (MADSAM), and one chronic immune sensory polyradiculopathy (CISP). Patient's disability was generally mild. Clinical course was progressive, monophasic, or relapsing. CONCLUSION: jCIDP prevalence and incidence rates in Sardinia were criteria-dependent, the lowest obtained when using AAN criteria, the highest using the EFNS/PNS. Nonetheless, even with the exclusion of the "possible" category, by using comparable methodology, prevalence rates in Sardinia are considerably higher than the range reported in all previous jCIDP studies.
