BACKGROUND: Delayed brain function development in small-gestational-age (SGA) infants has been reported. We aimed to quantify rates of immature neonatal EEG patterns and their association with neurodevelopment in SGA full-term neonates. METHODS: Using a cohort design, 50 SGA (birthweight <10th percentile) and 44 appropriate-gestational-age (AGA) term neonates underwent continuous video-EEG recordings lasting >3 h. Seventy-three of them were assessed at 2-years-old using Bayley-III-Scales. For EEG analysis, several segments of discontinuous/alternating EEG tracings were selected. Main outcomes measured: (1) Visual analysis (patterns of EEG maturity); (2) Power spectrum in δ, θ, α and β frequency bands; and (3) scores in motor, cognitive and language development. RESULTS: (1) SGA infants, compared to AGA, showed: (a) higher percentages of discontinuous EEG, both asynchrony and interhemispheric asymmetry, and bursts with delta-brushes, longer interburst-interval duration and more transients/hour; (b) lower relative power spectrum in δ and higher in α; and (c) lower scores on motor, language and cognitive neurodevelopment. (2) Asymmetry >5%, interburst-interval >5 s, discontinuity >11%, and bursts with delta-brushes >11% were associated with lower scores on Bayley-III. CONCLUSIONS: In this prospective study, SGA full-term neonates showed high rates of immature EEG patterns. Low-birthweight and immaturity EEG were both correlated with low development scores.
In healthy term neonates, immature electroencephalographic patterns, lack of clearly defined sleep-wake cycles, and frequent transients can be considered normal electroencephalographic findings in the first six hours of life. Normative power spectrum data are provided. These findings suggest that neonatal adaptation immediately after birth leads to transient changes in brain function.
TRAPPC11 was identified as a component of the TRAPP III complex that functions in membrane trafficking and autophagy. Variants in TRAPPC11 have been reported to be associated with a broad spectrum of phenotypes but all affected individuals display muscular pathology. Identifying additional variants will further our understanding of the clinical spectrum of phenotypes and will reveal regions of the protein critical for its functions. Here we report three individuals from unrelated families that have bi-allellic TRAPPC11 variants. Subject 1 harbors a compound heterozygous variant (c.1287 + 5G > A and c.3379_3380insT). The former variant results in a partial deletion of the foie gras domain (p.Ala372_Ser429del), while the latter variant results in a frame-shift and extension at the carboxy terminus (p.Asp1127Valfs*47). Subjects 2 and 3 both harbour a homozygous missense variant (c.2938G > A; p.Gly980Arg). Fibroblasts from all three subjects displayed membrane trafficking defects manifested as delayed endoplasmic reticulum (ER)-to-Golgi transport and/or a delay in protein exit from the Golgi. All three individuals also show a defect in glycosylation of an ER-resident glycoprotein. However, only the compound heterozygous subject displayed an autophagic flux defect. Collectively, our characterization of these individuals with bi-allelic TRAPPC11 variants highlights the functional importance of the carboxy-terminal portion of the protein.
ObjetiveTo determine whether full-term newborn infants of diabetic mothers (IDM) present immature/disorganised EEG patterns in the immediate neonatal period, and whether there was any relationship with maternal glycaemic control.Design and settingCohort study with an incidental sample performed in a tertiary hospital neonatal unit.Patients23 IDM and 22 healthy newborns born between 2010 and 2013.InterventionsAll underwent video-EEG recording lasting >90 min at 48–72 h of life.Main outcome measuresWe analysed the percentage of indeterminate sleep, transient sharp waves per hour and mature-for-gestational age EEG patterns (discontinuity, maximum duration of interburst interval (IBI), asynchrony, asymmetry, δ brushes, encoches frontales and α/θ rolandic activity). The group of IDM was divided into two subgroups according to maternal HbA1c: (1) HbA1c≥6% and (2) HbA1c<6%.ResultsCompared with healthy newborns, IDM presented significantly higher percentage of indeterminate sleep (57% vs 25%; p<0.001), discontinuity (2.5% vs 0%; p=0.044) and δ brushes in the bursts (6% vs 3%; p=0.024); higher duration of IBI (0.3 s vs 0 s; p=0.017); fewer encoches frontales (7/h vs 35/h; p<0.001), reduced θ/α rolandic activity (3/h vs 9/h; p<0.001); and more transient sharp waves (25/h vs 5/h; p<0.001). IDM with maternal HbA1c≥6% showed greater percentage of δ brushes in the burst (14% vs 4%; p=0.007).ConclusionsFull-term IDM newborns showed video-EEG features of abnormal development of brain function. Maternal HbA1c levels<6% during pregnancy could minimise the risk of cerebral dysmaturity.
We present 2 term newborn infants with apneic seizure originating in the occipital lobe that was diagnosed by video-EEG. One infant had ischemic infarction in the distribution of the posterior cerebral artery, extending to the cingulate gyrus. In the other infant, only transient occipital hyperechogenicity was observed by using neurosonography. In both cases, although the critical EEG discharge was observed at the occipital level, the infants presented no clinical manifestations. In patient 1, the discharge extended to the temporal lobe first, with subtle motor manifestations and tachycardia, then synchronously to both hemispheres (with bradypnea/hypopnea), and the background EEG activity became suppressed, at which point the infant experienced apnea. In patient 2, background EEG activity became suppressed right at the end of the focal discharge, coinciding with the appearance of apnea. In neither case did the clinical description by observers coincide with video-EEG findings. The existence of connections between the posterior limbic cortex and the temporal lobe and midbrain respiratory centers may explain the clinical symptoms recorded in these 2 cases. The novel features reported here include video-EEG capture of apneic seizure, ischemic lesion in the territory of the posterior cerebral artery as the cause of apneic seizure, and the appearance of apnea when the epileptiform ictal discharge extended to other cerebral areas or when EEG activity became suppressed. To date, none of these clinical findings have been previously reported. We believe this pathology may in fact be fairly common, but that video-EEG monitoring is essential for diagnosis.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.