Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy.

Background: Several specific syndromes within the RASopathies spectrum lead to an increased risk of seizures up to developing refractory epileptic encephalopathy. Management remains symptomatic.

Methods: Here we report two patients treated with trametinib, a MEK1-2 inhibitor, as a precision strategy for drug-resistant epilepsy.

Fragility and resilience: parental and family perspectives on the impacts of extreme prematurity.

Objectives: Extremely preterm babies have a significant risk of neurodevelopmental impairment (NDI). There has been little investigation regarding the impact of prematurity on families. The objective of this study was to explore parental perspectives regarding the impact of prematurity on themselves/their family.

Pulmonary important outcomes after extremely preterm birth: Parental perspectives.

Aim: To describe pulmonary important outcomes (PIO) reported by parents of children born extremely preterm.

Methods: Over 1-year, all parents of children aged 18 months-7-years born <29 weeks' GA were asked regarding their perspectives. The proportion of parents who described PIO and the themes they invoked were examined.

Guilt and Regret Experienced by Parents of Children Born Extremely Preterm.

Objectives: To explore decisional regret of parents of babies born extremely preterm and analyze neonatal, pediatric, and parental factors associated with regret.

Study Design: Parents of infants born <29 weeks of gestational age, aged between 18 months and 7 years, attending neonatal follow-up were enrolled. Hospital records were reviewed to examine morbidities and conversations with parents about levels of care.

Parental perspective on important health outcomes of extremely preterm infants.

Background And Objective: Neonatal outcome research and clinical follow-up principally focus on neurodevelopmental impairment (NDI) after extremely preterm birth, as defined by the scientific community, without parental input. This survey aimed to investigate parental perspectives about the health and development of their preterm children.

Methods: Parents of children aged 18 months to 7 years born <29 weeks' gestational age presenting at a neonatal follow-up clinic over a 1-year period were asked to evaluate their children's health and development.

Transition in acquired brain injury youth (TrABI-Y): a systematic literature review protocol.

Introduction: Acquired brain injury (ABI) in paediatrics refers to children born with a neurological deficit, which will lead to a chronic neurological disorder. As advances in medical paediatric health progress, we are seeing these ABI youth transitioning into adult healthcare services while also going through different life events. Despite the growing number of young adult patients, access to transition programmes to facilitate the transition process is still limited and evidence on the effectiveness of these programmes is inconclusive.

Parental Perspectives Regarding Outcomes of Very Preterm Infants: Toward a Balanced Approach.

Objectives: To explore parental perspectives regarding their preterm child at 18 months corrected age and to investigate whether reported answers correlate with level of neurodevelopmental impairment (NDI) as defined by clinicians. We hypothesized that parents would report more negative concerns with increasing level of NDI.

Study Design: This study included 190 infants born <29 weeks of gestational age in 2009-2012 at 1 tertiary university health center.