A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.

The GABRA1 gene encodes one of the most conserved and highly expressed subunits of the GABA receptor family. Variants in this gene are causatively implicated in different forms of epilepsy and also more severe epilepsy-related neurodevelopmental syndromes. Here we study functional consequences of a novel de novo missense GABRA1 variant, p.

The impact of extrauterine life on visual maturation in extremely preterm born infants.

Background: Extrauterine life is an important factor when considering brain maturation. Few studies have investigated the development of visual evoked potentials (VEP) in extremely preterm infants, and only a minority have taken into consideration the impact of extrauterine life. The aim of this study was to assess the normal maturation of VEP in infants born prior to 29 weeks gestational age (GA) and to explore the potential influence of extrauterine life.

Automated classification of neonatal sleep states using EEG.

Objective: To develop a method for automated neonatal sleep state classification based on EEG that can be applied over a wide range of age.

Methods: We collected 231 EEG recordings from 67 infants between 24 and 45weeks of postmenstrual age. Ten minute epochs of 8 channel polysomnography (N=323) from active and quiet sleep were used as a training dataset.

Amplitude-integrated electroencephalography shows that doxapram influences the brain activity of preterm infants.

Aim: The aim of this study was to measure the brain activity of preterm infants treated with caffeine citrate and doxapram for preterm apnoea, using amplitude-integrated electroencephalography (aEEG), to identify any adverse effects on cerebral function.

Methods: We analysed the aEEG tracings of 13 preterm infants <30 weeks of gestation before, during and after doxapram treatment, with regard to background activity (percentages of continuous and discontinuous patterns), occurrence of sleep-wake cycling and appearance of electrographic seizure activity. They were also compared with 61 controls without doxapram treatment.

Effect of maturation on suprasegmental speech processing in full- and preterm infants: a mismatch negativity study.

Infants born prematurely are at higher risk for later linguistic deficits present in delayed or atypical processing of phonetic and prosodic information. In order to be able to specify the nature of this atypical development, it is important to investigate the role of early experience in language perception. According to the concept of Gonzalez-Gomez and Nazzi (2012) there is a special intrauterine sensitivity to the prosodic features of languages that should have a special role in language acquisition.

Can neurophysiological assessment improve timing of intervention in posthaemorrhagic ventricular dilatation?

Objective: Intraventricular haemorrhage is still the most common cause of brain lesion in preterm infants and development of a posthaemorrhagic ventricular dilatation (PHVD) can lead to additional neurological sequelae. Flash visual evoked potentials (fVEP) and amplitude-integrated electroencephalography (aEEG) are non-invasive neurophysiological monitoring tools. The aim of the study was to evaluate fVEPs and aEEGs in preterm infants with progressive PHVD prior to and after neurosurgical intervention for cerebrospinal fluid removal and to correlate the findings with severity of ventricular dilatation.

Experiences in the perinatal management of congenital diaphragmatic hernia during the last 15 years in a tertiary referral institute.

Objective: Review of cases of perinatally diagnosed congenital diaphragmatic hernias with special regard to time of diagnosis, organs herniated into the thorax, associated malformations, and outcomes.

Methods: We analyzed the data of 106 cases between July 1, 1990, and June 30, 2005. The observation period was analyzed in two parts.