Percorrer por autor "Vieira, Paula Manuel"
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- Presymptomatic treatment of type 1 spinal muscular atrophy – A literature reviewVieira, Paula Manuel; Garrido, Cristina; Santos, ManuelaSpinal muscular atrophy (SMA) is the leading monogenic cause of childhood death and SMA1 is its most common form. It is caused by a pathogenic variant in the survival motor neuron (SMN) 1 gene that results in the lack of a functional SMN protein. Patients suffer from a rapid and irreversible loss of motor neurons. Symptoms include weakness, hypotonia, and delayed or absent achievement of early motor milestones, never reaching the ability to sit independently. Respiratory muscle weakness, tongue fasciculations, and poor swallowing reflexes are common. Diagnosis is based on molecular genetic testing. To ensure earlier diagnosis, newborn screening (NBS) programs have been implemented in some countries and are extremely reliable. Before the development of disease-modifying therapies, the natural course of the disease led to rapid weakness with respiratory failure and death before the age of two in most patients. Disease-modifying drugs reduce the need for respiratory and nutritional support and lead to motor gains. Greater improvements are seen in patients treated early, before symptoms become apparent. These findings underscore the need for NBS programs, as early treatment is highly effective in reducing the need for supportive therapy, thereby reducing the overall cost of therapy.
- Sleep habits and screen use in an adolescent population during the COVID-19 pandemicVieira, Paula Manuel; Cascais, Inês; Alba, Diana; Bernardo, Ana; Faria, João; Feio, Ana; Coelho, Margarida Paiva; Ribeiro, Maria do Céu; Gomes, Lúcia; Fonseca, Paula; Rios, MartaIntroduction: Screen use among adolescents has increased, with excessive screen time associated with poor sleep. Isolation due to the COVID-19 pandemic may have exacerbated these problems. This study aimed to characterize adolescents’ sleep and screen use behaviors during the COVID-19 pandemic lockdown.Methods: This was a multicenter, cross-sectional, descriptive study of adolescents aged 10 to 18 years evaluated in an Adolescent Medicine outpatient visit of four hospitals in northern Portugal between January and March 2021. Adolescents completed a survey with questions about screen use and sleep and the Pediatric Daytime Sleepiness Scale (Portuguese version).Results: A total of 131 adolescents (66.4% female; median age 15 years) were enrolled during the study period. Participants reported a median sleep duration of nine hours on weekdays and 10 hours on weekends, with 25.9% sleeping less than eight hours on weekdays. Approximately 80% reported good or very good sleep quality. Onset insomnia was identified in 39.7% and excessive daytime sleepiness (EDS) in 13.7%. Most adolescents (74.0%) reported screen time of ≥6 hours/day. Screens were mainly used for attending classes and talking to friends. Smartphones were available in the bedroom at night for 83.2%, while 61.1% had televisions, 57.3% had computers, and 16.0% had gaming consoles in their bedrooms. Fifty-five percent used screens within an hour of bedtime every day. Screen time ≥6 hours/day and having a computer or smartphone in the bedroom at night were associated with shorter sleep duration on weekdays and EDS. Screen use within an hour of bedtime ≥4 times/week was associated with sleep-onset insomnia, shorter weekday sleep duration, and EDS. Discussion: Online classes during the COVID-19 lockdown may explain the use of devices ≥6 hours/day. Although most adolescents reported normal median sleep time and subjective good or very good sleep quality, screen use ≥6 hours/day and within one hour before bedtime was associated with sleep deprivation on weekdays and EDS.Conclusions: Excessive screen time during the pandemic appears to have had a negative impact on adolescents’ sleep. These findings underscore the importance of identifying and intervening in these issues when addressing adolescent global health.