Heterozygous mutations in are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. Although -related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spectrum of the disease.
View Article and Find Full Text PDFBackground: Persistent patency of the ductus arteriosus (PDA) has challenged neonatologists for more than 40 years. Controversies persist about the management of PDA in extremely preterm infants. PDA is associated with morbidities, but no therapeutic strategy has resulted in an improved neonatal outcome.
View Article and Find Full Text PDFBackground: Cranial positional deformities occur frequently in the first months of life.
Objective: To evaluate the effectiveness of osteopathic manipulative treatment (OMT) in preventing the onset of positional plagiocephaly and brachycephaly at 4 months in at-risk newborns.
Methods: This single-center, randomized, controlled open-label study, with blinded assessment of the endpoints, was carried out at the maternity unit of Montpellier University Hospital (France) between 2019 and 2022.
Management of patent ductus arteriosus (PDA) in preterm newborns has been debated extensively for more than six decades. Some authors affirm that PDA is only an innocent mirror of infant immaturity, without specific health consequences. They also underline the futility, even danger, of treating it.
View Article and Find Full Text PDFBackground: Traditional approaches to management of neonates prenatally exposed to opioids are based on the use of pharmacotherapy (PT), adjusted to evolution of infant symptoms. Newer approaches focused on non-pharmacological care (NPC) are emerging, but there is little evidence on the active policies to implement to ensure their widespread practice. The primary objective of the study was to assess whether the implementation of a developmental care program in our neonatal medicine department had an impact on the management of these infants during hospitalization, notably exposure to NPC.
View Article and Find Full Text PDFPurpose: The primary objective was to evaluate the impact of necrotising enterocolitis (NEC) and spontaneous intestinal perforation (SIP) on mortality and neurodevelopmental outcomes at 2 years' corrected age (CA) in infants born before 32 weeks' gestation (WG).
Methods: We studied neurodevelopment at 2 years' CA of infants with NEC or SIP who were born before 32 WG from the EPIPAGE-2 cohort study. The primary outcome was death or the presence of moderate-to-severe motor or sensory disability defined by moderate-to-severe cerebral palsy or hearing or visual disability.
Aim: This study compared neurodevelopmental screening questionnaires completed when preterm-born children reached 2 years of corrected age with social communication skills at 5.5 years of age.
Methods: Eligible subjects were born in 2011 at 24-34 weeks of gestation, participated in a French population-based epidemiological study and were free of motor and sensory impairment at 2 years of corrected age.
Arch Dis Child Fetal Neonatal Ed
August 2024
Objective: To report neurodevelopment at age 5.5 years according to developmental delay screening with the Ages & Stages Questionnaire (ASQ) in late infancy in preterm-born children.
Design: Population-based cohort study, EPIPAGE-2.
Aim: To compare the efficacy of intravenous clonazepam (CLZ) for the initial management of convulsive status epilepticus (CSE) in children as a function of the first-line in-hospital dose used.
Method: This monocentric retrospective study included children who received a first dose of CLZ for CSE at Montpellier University Hospital, France, between January 2016 and June 2019. Data from medical records (clinical, treatment, course) were collected and compared as a function of the first CLZ dose used.
Introduction: High-flow nasal cannula (HFNC) is commonly used as first step respiratory support in infants with moderate-to-severe acute viral bronchiolitis (AVB). This device, however, fails to effectively manage respiratory distress in about a third of patients, and data are limited on determinants of patient response. The respiratory rate-oxygenation (ROX) index is a relevant tool to predict the risk for HFNC failure in adult patients with lower respiratory tract infections.
View Article and Find Full Text PDFBackground: Patent ductus arteriosus (PDA) in preterm infants is associated with increased morbidities and mortality. Prophylactic treatment with cyclooxygenase inhibitors, as indomethacin or ibuprofen, failed to demonstrate significant clinical benefits. Acetaminophen may represent an alternative treatment option.
View Article and Find Full Text PDFObjective: To assess whether music therapy (MT) is effective to reduce pain during daily personal hygiene care (DPHC), a procedure performed in all patients in a pediatric intensive care unit.
Methods: Fifty critically ill children were enrolled in a crossover controlled clinical trial with random ordering of the intervention, that is, passive MT, and standard conditions, and blind assessment of pain on film recordings. The primary outcome was variation of the Face Legs Activity Cry Consolability (FLACC) score (range, 0-10) comparing before and during DPHC.
Importance: Compared with term-born peers, children born very preterm generally perform poorly in executive functions, particularly in working memory and inhibition. By taking advantage of neuroplasticity, computerized cognitive training of working memory in those children could improve visuospatial processing by boosting visual inhibition via working memory.
Objective: To evaluate the long-term effect of cognitive working memory training on visuospatial processing in children aged 5½ to 6 years born very preterm who have working memory impairment.
Early Hum Dev
September 2023
Objective: To determine the prevalence, short-term prognosis and pharmacologic management of pulmonary hypertension (PH) among very preterm infants born before 32 weeks gestation (WG).
Study Design: In the EPIPAGE-2 French national prospective population-based cohort of preterm infants born in 2011, those presenting with PH were identified and prevalence was estimated using multiple imputation. The primary outcome was survival without severe morbidity at discharge and was compared between infants with or without PH after adjusting for confounders, using generalized estimating equations models.
Background: We report the occurrence of a severe pulmonary hypertension (PH) in a neonate affected by a left congenital diaphragmatic hernia (CDH). PH in this patient was associated with an abnormal origin of the right pulmonary artery from the right brachiocephalic artery. This malformation, sometimes named hemitruncus arteriosus, has to the best of our knowledge never been reported in association with a CDH.
View Article and Find Full Text PDFObjective: We aimed to study neurodevelopmental outcomes and healthcare utilisation at age 5-6 years in very preterm children with bronchopulmonary dysplasia (BPD).
Design: Prospective and national population-based study.
Setting: All the neonatal units in 25 French regions (21 of the 22 metropolitan regions and 4 overseas regions).
Background: Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, early-onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. Intracerebral gene delivery (GD) provided a significant improvement among AADCD patients (mean age, ≤6 years).
Objective: We describe the clinical, biological, and imaging evolution of two AADCD patients ages >10 years after GD.
To identify the risk factors of early occurrence of malnutrition in infants with severe congenital heart disease (CHD) during their first year of life. Retrospective longitudinal multicenter study carried out from January 2014 to December 2020 in two tertiary care CHD centers. Four CHD hemodynamic groups were identified.
View Article and Find Full Text PDFObjectives: The evidence that risks of morbidity and mortality are higher when very premature newborns are born during the on-call period is inconsistent. This study aimed to assess the impact of this situation among other determinants of outcomes, particularly newborn characteristics and care organization.
Methods: Observational study including all infants born < 30 weeks' gestation in a French tertiary perinatal center between 2007 and 2020.
Background: Hypotension is a common condition during the first postnatal days of very preterm infants and has been associated with an increased risk of adverse outcomes but its management remains controversial. There is a consensus to promote the use of neonatologist-performed echocardiography (NPE) in hypotensive very preterm infants, although no clinical trial ever assessed this practice.
Methods: We conducted a retrospective analysis of prospectively collected data from the French national EPIPAGE-2 cohort to evaluate the association of NPE with survival, severe morbidity, and therapeutic management in very preterm infants with early hypotension.
This study compares neurodevelopment at 5 years of age in children who were extremely preterm infants and who underwent early systematic echocardiographic screening for patent ductus arteriosus (PDA) vs those who did not undergo screening.
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