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intellectual disability and epilepsy

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https://www.readbyqxmd.com/read/29791879/seizure-imitators-monitored-using-video-eeg-in-children-with-intellectual-disabilities
#1
Riyo Ueda, Yuko Shimizu-Motohashi, Kenji Sugai, Eri Takeshita, Akihiko Ishiyama, Takashi Saito, Hirofumi Komaki, Eiji Nakagawa, Masayuki Sasaki
Diagnosis of seizure imitators in children is often challenging, and individuals with intellectual disability (ID) could be at additional risk of seizure imitator misdiagnosis. We aimed to elucidate distinct features of clinical semiology among children of different intellectual levels, which may help in distinguishing seizure imitators from epilepsy in such individuals. We retrospectively compared semiological features of seizure imitators in children with and without ID captured using video-electroencephalography (video-EEG)...
May 20, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29786810/-epilepsy-and-comorbid-neurodevelopmental-disorders
#2
Viviann Nordin, Ingrid B Olsson, Torbjörn Tomson
In children and adults with epilepsy, it is important to be aware of and diagnose common comorbidities that may have a large impact on quality of life. Comorbid neurodevelopmental disorders include intellectual disability, autism, and attention deficit hyperactivity disorder (ADHD). Depression and anxiety are common findings, and also the risk of psychosis is increased. The medication used to treat these comorbidities is found to be effective with little risks of seizure exacerbation, i.e. medication with methylphenidate, selective serotonin reuptake inhibitors (SSRIs) and second generation neuroleptics...
May 22, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29781149/supporting-advanced-dementia-in-people-with-down-syndrome-and-other-intellectual-disability-consensus-statement-of-the-international-summit-on-intellectual-disability-and-dementia
#3
M McCarron, P McCallion, A Coppus, J Fortea, S Stemp, M Janicki, K Wtachman
BACKGROUND: The International Summit on Intellectual Disability and Dementia (Glasgow, Scotland; October 2016) noted that advanced dementia can be categorised as that stage of dementia progression characterised by significant losses in cognitive and physical function, including a high probability of further deterioration and leading to death. METHOD: The question before the Summit was whether there were similarities and differences in expressions of advanced dementia between adults with intellectual disability (ID) and adults in the general population...
May 20, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29775848/long-term-outcome-in-children-with-neonatal-seizures-a-tertiary-center-experience-in-cohort-of-168-patients
#4
Biljana Vucetic Tadic, Ruzica Kravljanac, Vlada Sretenovic, Vladislav Vukomanovic
PURPOSE: The purpose of this study was to evaluate long-term outcome and assess predictors of prognosis in children with neonatal seizures (NS). METHOD: This retrospective study includes children with NS treated at our Institute from January the 1st 2005 until December the 31st 2015. The data were collected from medical charts and the electroencephalogram (EEG) database at the Institute. The predictive value was evaluated for following parameters: (1) characteristics of the patients, such as gender, gestational age, birth body weight, Apgar score, artificial ventilation; (2) etiology; (3) characteristics of seizures such as type, time of onset, resistance to treatment; and (4) EEG background activity and paroxysmal discharges...
May 15, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#5
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29756080/-de-novo-mutations-and-rare-variants-occurring-in-nmda-receptors
#6
Wenshu XiangWei, Yuwu Jiang, Hongjie Yuan
A significant number of variants/mutations in the N -methyl-D -aspartate glutamatergic receptor (NMDAR) gene family ( GRIN ) have been identified along with stunning advances in the technologies of next generation of whole-exome sequencing. Mutations in human GRIN genes are distributed throughout the entire gene, from amino terminal domain to C-terminal domain, in patients with various neuropsychiatric disorders, including autism spectrum disorders, epilepsy, intellectual disability, attention deficit hyperactivity disorder, and schizophrenia...
April 2018: Current Opinion in Physiology
https://www.readbyqxmd.com/read/29754013/psychogenic-nonepileptic-seizures-in-adults-with-epilepsy-and-intellectual-disability-a-neglected-area
#7
Jans S van Ool, Alexandra I Haenen, Francesca M Snoeijen-Schouwenaars, Albert P Aldenkamp, Jos G M Hendriksen, H Jurgen Schelhaas, In Y Tan, Richard H C Lazeron, Nynke M G Bodde
PURPOSE: To describe the main characteristics of psychogenic nonepileptic seizures (PNES) in adults with epilepsy and intellectual disability (ID), and to analyse the differences regarding psychosocial functioning, epilepsy severity and ID between patients with PNES and a control group without PNES. METHODS: Medical records of adults with ID and epilepsy living at an epilepsy care facility (N = 240) were screened for PNES and evaluated by a neurologist. A control group consisting of patients with epilepsy and ID, without PNES, was matched according to age, sex and level of ID...
May 4, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29753047/chromosomal-microarray-analysis-of-bulgarian-patients-with-epilepsy-and-intellectual-disability
#8
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Iliana Alexandrova, Sashka Zhelyazkova, Iliana Pacheva, Petya Dimova, Ivan Ivanov, Ivan Litvinenko, Veneta Bozhinova, Ivailo Tournev, Emil Simeonov, Vanyo Mitev, Albena Jordanova, Radka Kaneva
High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders...
May 9, 2018: Gene
https://www.readbyqxmd.com/read/29747764/-genetics-diagnosis-and-characteristics-of-trisomy-21
#9
Aimé Ravel
Trisomy 21 remains relevant today. As patients' life expectancy increases, medical monitoring shows the importance of screening for associated complications such as epilepsy and sleep apnoea. For caregivers, it constitutes a care model for intellectually disabled people notably with regard to anxiety, poor expression of pain and family suffering. Scientific advances raise hope of progress in therapeutic practices.
May 2018: Soins. Pédiatrie, Puériculture
https://www.readbyqxmd.com/read/29740950/the-first-reported-case-of-an-inherited-pathogenic-chd2-variant-in-a-clinically-affected-mother-and-daughter
#10
Andrea Klunder Petersen, Haley Streff, Mari Tokita, Bret L Bostwick
Pathogenic variants in CHD2 (chromodomain helicase DNA-binding protein 2) have been reported in neurodevelopmental disorders with a broad spectrum of phenotypic variability, ranging from mild intellectual disability to atonic-myoclonic epilepsy. However, given the paucity of reported cases the extent of this phenotypic spectrum is currently unknown. Furthermore, all confirmed pathogenic CHD2 variants reported to date have been de novo, preventing the study of intrafamilial phenotypic heterogeneity and creating ambiguity regarding recurrence risk, penetrance, and expressivity...
May 9, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29734022/generalized-epilepsy-and-mild-intellectual-disability-associated-with-13q34-deletion-a-potential-role-for-sox1-and-arhgef7
#11
A Orsini, A Bonuccelli, P Striano, A Azzara, G Costagliola, R Consolini, D G Peroni, A Valetto, V Bertini
Terminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations. We report two siblings presenting generalized epilepsy, intellectual disability, and genitourinary tract defects. Array CGH detected a 1.3 Mb deletion at 13q34; it contains two protein-coding genes, SOX1 and ARHGEF7, whose haploinsufficiency can contribute to the epileptic phenotype.
April 26, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29724491/clinical-presentation-of-a-complex-neurodevelopmental-disorder-caused-by-mutations-in-adnp
#12
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B A de Vries, Sébastien Küry, Jill A Rosenfeld, Marije E Meuwissen, Geert Vandeweyer, R Frank Kooy
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents...
March 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29722015/east-sesame-syndrome-review-of-the-literature-and-introduction-of-four-new-latvian-patients
#13
REVIEW
C Marta, M Ieva, I Inna, A Mareta, K Sandra, J Pereca, S Janis, P Dita, S Jurgis
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K+ channel found in the brain, inner ear, kidney and eye. To date, 16 mutations in at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in previously reported patients...
May 3, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29719672/abnormal-coherence-and-sleep-composition-in-children-with-angelman-syndrome-a-retrospective-eeg-study
#14
Hanna den Bakker, Michael S Sidorov, Zheng Fan, David J Lee, Lynne M Bird, Catherine J Chu, Benjamin D Philpot
Background: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, speech and motor impairments, epilepsy, abnormal sleep, and phenotypic overlap with autism. Individuals with AS display characteristic EEG patterns including high-amplitude rhythmic delta waves. Here, we sought to quantitatively explore EEG architecture in AS beyond known spectral power phenotypes. We were motivated by studies of functional connectivity and sleep spindles in autism to study these EEG readouts in children with AS...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29717186/novel-nexmif-pathogenic-variant-in-a-boy-with-severe-autistic-features-intellectual-disability-and-epilepsy-and-his-mildly-affected-mother
#15
Nelle Lambert, Corinne Dauve, Emmanuelle Ranza, Periklis Makrythanasis, Federico Santoni, Frédérique Sloan-Béna, Stefania Gimelli, Jean-Louis Blouin, Michel Guipponi, Armand Bottani, Stylianos E Antonarakis, Markus M Kosel, Joel Fluss, Ariane Paoloni-Giacobino
Intellectual disability (ID) and autism spectrum disorders are complex neurodevelopmental disorders occurring among all ethnic and socioeconomic groups. Pathogenic variants in the neurite extension and migration factor (NEXMIF) gene (formerly named KIAA2022) on the X chromosome are responsible for ID, autistic behavior, epilepsy, or dysmorphic features in males. Most affected females described had a milder phenotype or were asymptomatic obligate carriers. We report here for the first time mother-to-son transmission of a novel NEXMIF truncating variant without X-inactivation skewing in the blood...
May 1, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29707408/a-de-novo-xp11-23-duplication-in-a-girl-with-a-severe-phenotype-expanding-the-clinical-spectrum
#16
Pinar Arican, Dilek Cavusoglu, Pinar Gencpinar, Berk Ozyilmaz, Taha Resid Ozdemir, Nihal Olgac Dundar
The Xp11.22-p11.23 duplication syndrome was described in 2009 by Giorda et al and is characterized by intellectual disability, speech delay, and electroencephalography anomalies. We report a case of a 23-month-old girl who presented with epilepsy and global developmental delay and who had a small duplication at Xp11.23. The case we present here is the first case showing the clinical features of Xp11.22-p11.23 duplication syndrome only involving synovial sarcoma, X breakpoint ( SSX ) genes: SSX1 , SSX3 , SSX4 , and SSX9 ...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29706646/comprehensive-genomic-analysis-of-patients-with-disorders-of-cerebral-cortical-development
#17
Wojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, Monika Bekiesinska-Figatowska, Ewa Obersztyn, Dorota Antczak-Marach, Zeynep Hande Coban Akdemir, Tamar Harel, Ender Karaca, Marta Jurek, Katarzyna Sobecka, Beata Nowakowska, Malgorzata Kruk, Iwona Terczynska, Alicja Goszczanska-Ciuchta, Mariola Rudzka-Dybala, Ewa Jamroz, Antoni Pyrkosz, Anna Jakubiuk-Tomaszuk, Piotr Iwanowski, Dorota Gieruszczak-Bialek, Malgorzata Piotrowicz, Maria Sasiadek, Iwona Kochanowska, Barbara Gurda, Barbara Steinborn, Mateusz Dawidziuk, Jennifer Castaneda, Pawel Wlasienko, Natalia Bezniakow, Shalini N Jhangiani, Dorota Hoffman-Zacharska, Jerzy Bal, Elzbieta Szczepanik, Eric Boerwinkle, Richard A Gibbs, James R Lupski
Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic architecture of patients with disorders of cerebral cortical development, a cohort of 54 patients demonstrating neuroradiologic signs of MCDs was investigated. Individual genomes were interrogated for single-nucleotide variants (SNV) and copy number variants (CNV) with whole-exome sequencing and chromosomal microarray studies...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29696118/anesthetic-considerations-for-angelman-syndrome-case-series-and-review-of-the-literature
#18
Mary Ellen Warner, David P Martin, Mark A Warner, Ralitza H Gavrilova, Juraj Sprung, Toby N Weingarten
Background: Angelman syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, severe speech impairment, ataxia, seizures, happy demeanor, distinctive craniofacial features, high vagal tone, and gamma-amino butyric acid receptor abnormalities. The aim of this report is to review our experience of patients with Angelman syndrome undergoing anesthetic management. Methods: We retrospectively reviewed perioperative course of patients with Angelman syndrome who underwent procedures under anesthesia from 2000 to 2016...
October 2017: Anesthesiology and Pain Medicine
https://www.readbyqxmd.com/read/29677576/early-mortality-in-scn8a-related-epilepsies
#19
Katrine M Johannesen, Elena Gardella, Ingrid Scheffer, Katherine Howell, Douglas M Smith, Ingo Helbig, Rikke S Møller, Guido Rubboli
SCN8A-related epilepsies are often severe developmental and epileptic encephalopathies. Seizures can be treatment resistant, and patients suffer from severe intellectual disability. Reports have suggested that SCN8A-related epilepsies have a high mortality with SUDEP as the major underlying cause. SUDEP is a catastrophic event, and the risk of occurrence should be correctly and carefully discussed with patients and families. We tested the hypothesis of SUDEP as the main cause of death in SCN8A-related epilepsies by reviewing all the currently reported patients with SCN8A...
July 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29667920/child-life-services-in-an-epilepsy-monitoring-unit
#20
Daniel B Lowenstein, Mackenzie C Cervenka, Lauren Mitchell, Noelle Stewart, Eric H Kossoff, Sarah A Kelley
The goal of this study was to determine the value of a certified child life specialist (CCLS) on the patient and staff experiences in an epilepsy monitoring unit (EMU). We integrated a CCLS into the EMU for all children as well as adults with intellectual disability. We surveyed families to determine the impact of child life services on their stay. EMU staff completed questionnaires to determine perceived impact to their job performance from the integration of the CCLS. All of the families (pediatric and adult patients) who responded to the survey reported the presence of the CCLS improved their hospital experience...
April 1, 2018: Clinical Pediatrics
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