Publications
Components of Perinatal Palliative Care Vrije Universiteit Brussel
When a severe diagnosis is made before or after birth, perinatal palliative care (PPC) can be provided to support the infant, parents and involved healthcare providers. An integrative and systematic overview of effectiveness and working components of existing PPC programs was needed. An integrative search was conducted in MEDLINE, Embase, CENTRAL, CINAHL, PsycInfo and Web of Science. Study designs examining the effect of PPC compared to ...
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology Vrije Universiteit Brussel
RAC1 is a highly conserved Rho GTPase critical for many cellular and developmental processes. De novo missense RAC1 variants cause a highly variable neurodevelopmental disorder. Some of these variants have previously been shown to have a dominant negative effect. Most previously reported patients with this disorder have either severe microcephaly or severe macrocephaly. Here, we describe eight patients with pathogenic missense RAC1 variants ...
Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1-2-year-old children Vrije Universiteit Brussel
Sex chromosome trisomies (SCTs) are characterized by an extra X- or Y-chromosome (XXX, XXY, XYY). The present study aims to investigate early signs of social communication and social emotional development in very young children with SCT. Thirty-four children with SCT (aged 12-24 months) were included in this study, as well as 31 age-matched controls. Social communication was measured with structured behavior observations according to the ...
Outcome Prediction and Inter-Rater Comparison of Four Brain Magnetic Resonance Imaging Scoring Systems of Infants with Perinatal Asphyxia and Therapeutic Hypothermia Vrije Universiteit Brussel
INTRODUCTION: The brain magnetic resonance imaging (MRI) result is a major predictor for the outcome of term infants with perinatal asphyxia who underwent therapeutic hypothermia. In daily practice, no uniform method is used to assess these images.
PURPOSE: The aim of this study was to determine which MRI-score best predicts adverse outcome at 24 months of age and has the highest inter-rater reliability.
METHODS: Four MRI scoring ...
Efficacy and Safety of Enteral Recombinant Human Insulin in Preterm Infants Vrije Universiteit Brussel
Importance: Feeding intolerance is a common condition among preterm infants owing to immaturity of the gastrointestinal tract. Enteral insulin appears to promote intestinal maturation. The insulin concentration in human milk declines rapidly post partum and insulin is absent in formula; therefore, recombinant human (rh) insulin for enteral administration as a supplement to human milk and formula may reduce feeding intolerance in preterm ...
End-of-life decisions in neonates and infants Vrije Universiteit Brussel KU Leuven Ghent University
Barriers and facilitators for parents in end-of-life decision-making for neonates at the Neonatal Intensive Care Unit Vrije Universiteit Brussel KU Leuven Ghent University
BACKGROUND: Mortality and end-of-life decision-making can occur in newborns, especially within the Neonatal Intensive Care Unit. For parents, participating in end-of-life decision-making is taxing. Knowledge is lacking on what support is helpful to parents during decision-making.
AIM: To identify barriers and facilitators experienced by parents in making an end-of-life decision for their infant.
DESIGN: Qualitative study using ...
Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome Vrije Universiteit Brussel University of Antwerp KU Leuven
AIM: To describe the evolution of electroencephalogram (EEG) characteristics in infants with tuberous sclerosis complex (TSC) and the relationship with neurodevelopmental outcome at 24 months.
METHOD: Eighty-three infants were enrolled in the EPISTOP trial and underwent serial EEG follow-up until the age of 24 months (males n=45, females n=37, median age at enrolment 28d, interquartile range 14-54d). Maturation of the EEG background and ...
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex Vrije Universiteit Brussel KU Leuven
BACKGROUND AND OBJECTIVES: Multiple factors have been found to contribute to the high risk of epilepsy in infants with tuberous sclerosis complex (TSC), including evolution of EEG abnormalities, TSC gene variant, and MRI characteristics. The aim of this prospective multicenter study was to identify early MRI biomarkers of epilepsy in infants with TSC aged <6 months and before seizure onset, and associate these MRI biomarkers with ...