Purpose: The purpose of this study was to identify in the EPIRMEX cohort the correlations between MRI brain metrics, including diffuse excessive high signal intensities (DEHSI) obtained with an automated quantitative method and neurodevelopmental outcomes at 2 years.
Materials And Methods: A total of 390 very preterm infants (gestational age at birth≤32 weeks) who underwent brain MRI at term equivalent age at 1.5T (n=338) or 3T (n=52) were prospectively included.
Introduction: SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating SMG9 variants in a context of severe syndromic developmental disorder. To our knowledge, no additional patient has been described since this first report.
Methods: We performed exome sequencing in a patient exhibiting a syndromic developmental delay and in her unaffected parents and report the phenotypic features.
Background: Intraventricular hemorrhage (IVH) is a frequent complication in extreme and very preterm births. Despite a high risk of death and impaired neurodevelopment, the precise prognosis of infants with IVH remains unclear. The objective of this study was to evaluate the rate and predictive factors of evolution to post hemorrhagic hydrocephalus (PHH) requiring a shunt, in newborns with IVH and to report their neurodevelopmental outcomes at 2 years of age.
View Article and Find Full Text PDFUnlabelled: Neurodevelopmental outcome in children with agenesis of the corpus callosum (ACC) is correlated with the presence or absence of associated brain abnormalities. Indeed, neurodevelopmental outcome shows severe disabilities when the ACC is not isolated whereas in isolated forms, the neurologic development is mainly normal. Contrary to data in several published studies, the prognosis remains uncertain even in isolated forms, which may lead in France to medical termination of pregnancy.
View Article and Find Full Text PDFObjective: Our aim is to assess the neurodevelopmental outcome of children with a prenatal diagnosis of apparently isolated severe ventriculomegaly (SVM).
Method: This is a retrospective cohort study from 1994 to 2011. We included fetuses with unilateral or bilateral ventriculomegaly equal to or greater than 15 mm at prenatal ultrasound and confirmed by magnetic resonance imaging, whose parents chose continuation of pregnancy past 22 weeks, and with no associated findings at diagnosis (i.
Objective: To investigate alteration in 2-year neurological/behavioral outcomes of very preterm infants born in a French level three neonatal intensive care unit.
Methods: We conducted a prospective, comparative study of very preterm infants born before 33 weeks' gestation at 5-year intervals in 2000, 2005 and 2010 at Rouen University Hospital. Neonatal mortality/morbidities, ante- and neonatal treatments, and at age 2 years motor, cognitive and behavioral data were collected by standardized questionnaires.
Preterm birth remains a public health priority given that one child out of ten is born before 37 weeks of gestation. Survival without major neonatal morbidity has increased in high-income countries, in particular in France and in cases of extreme preterm birth before 27 weeks of gestation. Rate of severe handicaps, such as cerebral palsy, is probably decreasing, but specific cognitive disabilities in a variety of domains remain frequent, interfering with normal learning abilities at school and explaining the high rate of special education needs.
View Article and Find Full Text PDFCriteria defining the involvement of severe perinatal anoxia in neonatal encephalopathy in at-term newborns at birth are stringent and are rarely all present. The simultaneous action of pre- and intrapartum factors preceding neonatal hypoxic-ischemic encephalopathy are often observed. Cooling is recommended as there is evidence that it reduces mortality without increasing major disability in survivors.
View Article and Find Full Text PDFThe very preterm birth rate has increased in the past few years. Despite advances in neonatal medicine, neurodevelopmental sequelae have not decreased, despite a perinatal plan published in France in 1994. We conducted an epidemiological comparative survey at Rouen University Hospital in order to analyze morbidity, mortality, and care of very of premature infants by comparing the years 2000, 2005, and 2010.
View Article and Find Full Text PDFAim: To compare neonatal and 2-year outcomes in very premature infants born 5 years apart.
Methods: Prospective observational study of infants born before 33 weeks' gestation in 2000 or 2005 admitted to a neonatal intensive care unit in France. We collected perinatal data and evaluated motor, cognitive, neurosensory and behavioural outcomes at 2 years of age.
Aim: To evaluate long-term neurodevelopmental outcomes in children with prenatally diagnosed, isolated agenesis of the corpus callosum (ACC).
Methods: We retrospectively reviewed data for 20 children born between January 1991 and November 2003 in the Haute-Normandie region of France with a prenatal diagnosis of isolated ACC. We collected data on pre-and postnatal neuroimaging findings, clinical features at birth and neurodevelopmental outcomes.