Language Regression in an Atypical SLC6A1 Mutation
We present a child with a SLC6A1 mutation with language delay and autistic spectrum disorder and remind the reader that the identification of specific mutations in these conditions increase the likelihood of identification of potential therapeutic targets. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 29, 2018 Category: Neurology Authors: Monica P. Islam, Gail E. Herman, Emily C. de los Reyes Source Type: research
Infantile Epileptic Encephalopathy With Multiple Genetic Mutations: How Important are Variants of Undetermined Significance?
The importance of so called variants of undetermined significance in the development of Infantile Epileptic Encephalopathy is discussed and an illustrative case is presented. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 29, 2018 Category: Neurology Authors: Momen Almomen, Jong M. Rho, Morris H. Scantlebury Source Type: research
Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype
A 7-year-old boy with family history of consanguinity presented with developmental delay and recurrent hemiplegia involving both sides of the body, with variable facial and ocular involvement. Brain MRI showed bilateral striatal necrosis with cystic degeneration and lactate peaks on spectroscopy. Biochemical testing demonstrated mildly elevated lactate and pyruvate. Whole-exome sequencing revealed a novel homozygous pathogenic frameshift mutation in gene TTC19, diagnostic of mitochondrial complex III deficiency. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 29, 2018 Category: Neurology Authors: Erin Conboy, Duygu Selcen, Michael Brodsky, Ralitza Gavrilova, Mai Lan Ho Source Type: research
A Novel Phenotype in a Previously Described Epilepsy —Aphasia Disorder
The clinical presentation of patients with epileptic encephalopathies can be heterogenous. When attempting to classify a patient ’s epilepsy syndrome, challenges can arise due to the phenotypic overlap of various epilepsies as well as the different presentations of mutations within the same gene. Genetic testing can be most helpful in evaluation of children with features spanning several epilepsy phenotypes. In this case, w e report on a boy with an epileptic encephalopathy found to have a previously unreported mutation in a recently described gene. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 29, 2018 Category: Neurology Authors: Anthony L. Fine, Lily C. Wong-Kisiel, Elaine C. Wirrell Source Type: research
Editorial Comment Case #14 Basilar Artery Thrombosis in a Neonate
I think the occurrence of basilar artery thrombosis in a neonate must be a rare event. Perhaps not easily recognized and often, depending on the neurologic deficits produced, overlooked until much later in life. If the thrombosis is not recognized at the time, the opportunity to document the location and extent of the thrombosis is lost and the physician is left to speculate about what happened based on the resulting residual brain damage. I have seen this type of stroke occur, or perhaps it is more appropriate to say, I have recognized this type of stroke on only 3 or 4 occasions in my career. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 29, 2018 Category: Neurology Authors: John B. Bodensteiner Source Type: research
Introduction to Seminars in Neurology
This edition of Seminars in Pediatric Neurology focuses on one of the least understood areas in pediatric neurology, namely the period immediately after birth and before a stable independent physiology is attained. This period of fetal-neonatal transition involves orchestration of the most complex physiological processes encountered at any time across the lifespan. Successful transition is completion of this process without collateral injury to the newborn, especially the newborn brain. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 14, 2018 Category: Neurology Authors: Adr é du Plessis Source Type: research
The Current Global Reality: Poverty and Income Inequality
We live in a world of economic inequality: among the world ′s nations, some are rich and others poor. Within nations, wealth is not distributed equally either: billionaires live alongside people who are scraping to get by. Explaining what makes some nations rich and others poor has captivated economists since the discipline was in its infancy. In “The W ealth of Nations”, Adam Smith′s classic work of 1776 and one of the foundational works of modern economics, was, in part, an attempt at answering the question of differing wealth between economies. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Samuel Freeman Source Type: research
Global Burden of Paediatric Neurological Disorders
Neurological conditions in children represent a significant proportion of the global burden of disease, since they contribute to premature mortality and years lived with disability. The burden of neurological conditions, as measured by the total Disability Adjusted Live Years (DALYs) has decreased significantly over the last 25 years (1990 –2015), mainly due to the reduction in the mortality, as the Years Lived with Disability (YLD) has increased slightly. However in some regions of the world, notably South Asia and sub-Saharan Africa, the burden remains high, driven by the high incidence of prematurity, neonatal encepha...
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Charles Richard Newton Source Type: research
Imaging Evidence of the Effect of Socio-Economic Status on Brain Structure and Development
Numerous studies have shown an association between children ′s socio-economic status (SES) and disparities in neurocognitive development, achievements and function later in life. Research focus has recently shifted to imaging of the brain′s response to the child′s environment. This review summarizes the emerging studies on the influences of early-life SES on brain structure and development, and addresses the relation between brain development and enriched environments. The studies provide evidence of significant associations between SES and brain structure, growth and maturation, not only in healthy infants and child...
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: L.M. Leijser, A. Siddiqi, S.P. Miller Source Type: research
A Developmental Social Neuroscience Model for Understanding Pathways to Substance Use Disorders during Adolescence
Adolescence is a transitional period of development characterised by critical changes in physical, neural, cognitive, affective and social functions. Studies investigating the underlying mechanisms of substance use at levels of self-report, brain response and behavioural data are generally consistent with suggestions from dual-process model that differential growth rates of frontally mediated control and striato-frontal reward processing are related to a heightened risk of substance use during adolescence. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Hanie Edalati, Christine Doucet, Patricia J. Conrod Source Type: research
Understanding Fetal Heart Rate Patterns That May Predict Antenatal and Intrapartum Neural Injury
Electronic fetal heart rate (FHR) monitoring is widely used to assess fetal wellbeing throughout pregnancy and labor. Both antenatal and intrapartum FHR monitoring are associated with a high negative predictive value and a very poor positive predictive value. This in part reflects the physiological resilience of the healthy fetus and the remarkable effectiveness of fetal adaptations to even severe challenges. In this way, the majority of ‘abnormal′ FHR patterns in fact reflect a fetus′ appropriate adaptive responses to adverse in utero conditions. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Christopher A. Lear, Jenny A. Westgate, Austin Ugwumadu, Jan G. Nijhuis, Peter R. Stone, Antoniya Georgieva, Tomoaki Ikeda, Guido Wassink, Laura Bennet, Alistair J. Gunn Tags: 4th issue-Fetal Neurology issue Source Type: research
Fetal Cerebrovascular Maturation: Effects of Hypoxia
The human cerebral vasculature originates in the fourth week of gestation and continues to expand and diversify well into the first few years of postnatal life. A key feature of this growth is smooth muscle differentiation, whereby smooth muscle cells within cerebral arteries transform from migratory to proliferative to synthetic and finally to contractile phenotypes. These phenotypic transformations can be reversed by pathophysiological perturbations such as hypoxia, which causes loss of contractile capacity in immature cerebral arteries. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: William J. Pearce Source Type: research
The critical role of the central autonomic nervous system in fetal-neonatal transition
The objective of this article is to understand the complex role of the central autonomic nervous system in normal and complicated fetal-neonatal transition and how autonomic nervous system dysfunction can lead to brain injury. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Sarah B. Mulkey, Adre d ú Plessis Source Type: research
Circulatory Changes and Cerebral Blood Flow and Oxygenation During Transition in Newborns with Congenital Heart Disease
This review aims to describe how the complex events of cardiovascular transition may affect the brain of infants with congenital heart disease (CHD). In particular, we describe the vulnerabilities of the neonatal brain in the transitional period during and immediately after delivery and propose management strategies that can potentially influence neurodevelopmental outcomes in this patient population. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Shabnam Peyvandi, Mary T. Donofrio Source Type: research
It ′s all about the brain - Neuromonitoring during newborn transition
“. the matter of being born is such a physiologic adventure and the hazards to the brain so obvious that one would expect to find evidence of cortical electrical abnormality in those newcomers who have not survived too well the physical and chemical stresses incident to labour and delivery” Hugh es et al. 1948 Am J Dis Child. 76(5):503–12) (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: E.M. Dempsey, E. Kooi, G.B. Boylan Source Type: research
