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learning disability and epilepsy

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https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#1
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27818011/human-grin2b-variants-in-neurodevelopmental-disorders
#2
REVIEW
Chun Hu, Wenjuan Chen, Scott J Myers, Hongjie Yuan, Stephen F Traynelis
The development of whole exome/genome sequencing technologies has given rise to an unprecedented volume of data linking patient genomic variability to brain disorder phenotypes. A surprising number of variants have been found in the N-methyl-d-aspartate receptor (NMDAR) gene family, with the GRIN2B gene encoding the GluN2B subunit being implicated in many cases of neurodevelopmental disorders, which are psychiatric conditions originating in childhood and include language, motor, and learning disorders, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), developmental delay, epilepsy, and schizophrenia...
October 2016: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/27796422/type-1-diabetes-mellitus-and-risk-of-incident-epilepsy-a-population-based-open-cohort-study
#3
George E Dafoulas, Konstantinos A Toulis, Dougall Mccorry, Balachadran Kumarendran, G Neil Thomas, Brian H Willis, Krishna Gokhale, George Gkoutos, Parth Narendran, Krishnarajah Nirantharakumar
AIMS/HYPOTHESIS: The aim of this research was to explore the relationship between incident epilepsy and type 1 diabetes in British participants. METHODS: Using The Health Improvement Network database, we conducted a retrospective, open-cohort study. Patients who were newly diagnosed with type 1 diabetes mellitus at the age of ≤40 years were identified and followed-up from 1 January 1990 to 15 September 2015. These patients, identified as not suffering from epilepsy at the time of diagnosis, were randomly matched with up to four individuals without type 1 diabetes mellitus, based on age, sex and participating general practice...
October 31, 2016: Diabetologia
https://www.readbyqxmd.com/read/27686651/value-of-video-monitoring-for-nocturnal-seizure-detection-in-a-residential-setting
#4
Marije van der Lende, Fieke M E Cox, Gerhard H Visser, Josemir W Sander, Roland D Thijs
OBJECTIVE: Following a sudden death at a residential care unit, the Dutch Health and Care Inspectorate advised intensification of the use of video monitoring (VM) at the unit. We assessed whether VM resulted in increased identification of seizures that required clinical intervention. METHODS: The unit provides care for 340 individuals with refractory epilepsy and severe learning disabilities. Acoustic detection systems (ADSs) cover all individuals; 37 people also have a bed motion sensor (BMS) and 46 people with possible nocturnal seizures are now monitored by VM...
November 2016: Epilepsia
https://www.readbyqxmd.com/read/27668670/health-status-among-adults-born-with-an-oral-cleft-in-norway
#5
Erik Berg, Øystein A Haaland, Kristin B Feragen, Charles Filip, Hallvard A Vindenes, Dag Moster, Rolv T Lie, Åse Sivertsen
Importance: Parents regularly express concern about long-term health outcomes for children who are born with an oral cleft. Objective: To assess whether oral clefts affect the health and ability to work of young adults. Design, Setting, and Participants: A population-based cohort study was conducted on all individuals born in Norway between calendar years 1967 and 1992 (n = 1 490 401). All patients treated for clefts in Norway during the study period were invited to participate (n = 2860)...
September 26, 2016: JAMA Pediatrics
https://www.readbyqxmd.com/read/27515243/argininosuccinic-acid-lyase-deficiency-missed-by-newborn-screen
#6
Rebecca D Ganetzky, Emma Bedoukian, Matthew A Deardorff, Can Ficicioglu
Argininosuccinic acid lyase (ASL) deficiency, caused by mutations in the ASL gene (OMIM: 608310) is a urea cycle disorder that has pleiotropic presentations. On the mild end, ASL deficiency can manifest as nonspecific neurocognitive abnormalities without readily identifiable signs to differentiate it from other causes of intellectual disability or learning disabilities. Dietary management and arginine supplementation, if initiated early, may ameliorate symptoms.Because of the nonspecific nature of the symptoms and the possibility for therapeutic management, ASL deficiency is part of the recommended uniform screening panel for newborn screening in the USA...
August 12, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27490905/diagnostic-accuracy-of-audio-based-seizure-detection-in-patients-with-severe-epilepsy-and-an-intellectual-disability
#7
Johan B Arends, Jasper van Dorp, Dennis van Hoek, Niels Kramer, Petra van Mierlo, Derek van der Vorst, Francis I Y Tan
UNLABELLED: We evaluated the performance of audio-based detection of major seizures (tonic-clonic and long generalized tonic) in adult patients with intellectual disability living in an institute for residential care. METHODS: First, we checked in a random sample (n=17, 102 major seizures) how many patients have recognizable sounds during these seizures. In the second part of this trial, we followed 10 patients (who had major seizures with recognizable sounds) during four weeks with an acoustic monitoring system developed by CLB ('CLB-monitor') and video camera...
September 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27409573/17q12-deletion-and-duplication-syndrome-in-denmark-a-clinical-cohort-of-38-patients-and-review-of-the-literature
#8
Maria Rasmussen, Else Marie Vestergaard, Jesper Graakjaer, Yanko Petkov, Iben Bache, Christina Fagerberg, Maria Kibaek, Dea Svaneby, Olav Bjørn Petersen, Charlotte Brasch-Andersen, Lone Sunde
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). The aberrations encompass the genes, HNF1B, LHX1, and ACACA, among others. We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions and 26 phenotyped patients with 17q12 duplications. The total cohort includes 19 index patients and 19 family members. We also reviewed the literature in order to further improve the basis for the counseling...
July 13, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27393930/adjunctive-perampanel-in-refractory-epilepsy-experience-at-tertiary-epilepsy-care-center-in-tours
#9
Aude Maurousset, Nadège Limousin, Julien Praline, Julien Biberon, Philippe Corcia, Bertrand De Toffol
PURPOSE: The purpose of this study was to evaluate the effectiveness and safety of PER as add-on treatment in patients with severe refractory epilepsy with a particular focus on patients with learning disability and/or psychiatric comorbidity. METHOD: We pooled retrospective data from adult patients with refractory epilepsy prescribed perampanel from a tertiary center in France between 1st May 2014 and 3rd June 2015. Data collection was done on February 2016. RESULTS: One hundred and one patients were included (mean age: 41...
August 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27303609/neurofeedback-a-comprehensive-review-on-system-design-methodology-and-clinical-applications
#10
Hengameh Marzbani, Hamid Reza Marateb, Marjan Mansourian
Neurofeedback is a kind of biofeedback, which teaches self-control of brain functions to subjects by measuring brain waves and providing a feedback signal. Neurofeedback usually provides the audio and or video feedback. Positive or negative feedback is produced for desirable or undesirable brain activities, respectively. In this review, we provided clinical and technical information about the following issues: (1) Various neurofeedback treatment protocols i.e. alpha, beta, alpha/theta, delta, gamma, and theta; (2) Different EEG electrode placements i...
April 2016: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/27256868/a-new-family-with-an-slc9a6-mutation-expanding-the-phenotypic-spectrum-of-christianson-syndrome
#11
Alice Masurel-Paulet, Amélie Piton, Sophie Chancenotte, Claire Redin, Christel Thauvin-Robinet, Yvan Henrenger, Delphine Minot, Audrey Creppy, Marie Ruffier-Bourdet, Julien Thevenon, Paul Kuentz, Daphné Lehalle, Aurore Curie, Gaelle Blanchard, Ezzat Ghosn, Marlene Bonnet, Mélanie Archimbaud-Devilliers, Frédéric Huet, Odile Perret, Nicole Philip, Jean-Louis Mandel, Laurence Faivre
Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 and to an in-frame deletion of 26 amino acids in the TM4 domain. It segregates with cognitive impairment or learning difficulties in other members of the family. Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression...
August 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27230627/a-16q12-2q21-deletion-identified-in-a-patient-with-developmental-delay-epilepsy-short-stature-and-distinctive-features
#12
Toshiyuki Yamamoto, Keiko Shimojima, Sawako Yamazaki, Kanju Ikeno, Jun Tohyama
Interstitial deletions of the 16q centromeric region are rarely reported. A microdeletion of the 16q12.2q21 region was identified in a patient with intellectual disability, epilepsy, short stature, and distinctive features; including up-slanting palpebral fissures, hypertelorism, epicanthic folds, anteverted nares, simple philtrum, thin upper lip vermilion, high arched palate, posteriorly rotated ears, and overlapping toes in his right foot. Although the deleted region includes the genes responsible for neurological impairments (GNOA1, GPR56, KATNB1, and BBS2), haploinsufficiency of these genes would not be associated with the patient's phenotype...
May 27, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27142213/the-expanding-phenotypic-spectrum-of-female-slc9a6-mutation-carriers-a-case-series-and-review-of-the-literature
#13
REVIEW
Pierre Sinajon, Deborah Verbaan, Joyce So
Christianson syndrome (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global developmental delay and intellectual disability, developmental regression, epilepsy, microcephaly and impaired ocular movements. It shares many common features with Angelman syndrome. Carrier females have been described as having learning difficulties with mild to moderate intellectual disability, behavioural issues and psychiatric illnesses. There is little literature on the carrier female phenotype of Christianson syndrome...
August 2016: Human Genetics
https://www.readbyqxmd.com/read/27106840/outcomes-of-multilobar-resections-for-epilepsy-in-sweden-1990-2013-a-national-population-based-study
#14
Daniel T Nilsson, Kristina Malmgren, Roland Flink, Bertil Rydenhag
BACKGROUND: Reports on outcome after multilobar resection (MLR) are scarce and most are retrospective single-centre studies or case studies with few patients. The aim of this study is to present seizure and complication outcomes 2 years after MLR in a prospective population-based series. METHOD: The Swedish National Epilepsy Surgery Registry (SNESUR) provides prospective population-based data on outcome and complications after epilepsy surgery. For this study, we have analysed data on seizure outcome and complications after MLR from the SNESUR between 1990 and 2013...
June 2016: Acta Neurochirurgica
https://www.readbyqxmd.com/read/27092062/making-waves-in-the-brain-what-are-oscillations-and-why-modulating-them-makes-sense-for-brain-injury
#15
REVIEW
Aleksandr Pevzner, Ali Izadi, Darrin J Lee, Kiarash Shahlaie, Gene G Gurkoff
Traumatic brain injury (TBI) can result in persistent cognitive, behavioral and emotional deficits. However, the vast majority of patients are not chronically hospitalized; rather they have to manage their disabilities once they are discharged to home. Promoting recovery to pre-injury level is important from a patient care as well as a societal perspective. Electrical neuromodulation is one approach that has shown promise in alleviating symptoms associated with neurological disorders such as in Parkinson's disease (PD) and epilepsy...
2016: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/27091821/an-audit-of-the-quality-of-inpatient-care-for-adults-with-learning-disability-in-the-uk
#16
Rory Sheehan, Aarti Gandesha, Angela Hassiotis, Pamela Gallagher, Matthew Burnell, Glyn Jones, Michael Kerr, Ian Hall, Robert Chaplin, Michael J Crawford
OBJECTIVES: To audit patient hospital records to evaluate the performance of acute general and mental health services in delivering inpatient care to people with learning disability and explore the influence of organisational factors on the quality of care they deliver. SETTING: Nine acute general hospital Trusts and six mental health services. PARTICIPANTS: Adults with learning disability who received inpatient hospital care between May 2013 and April 2014...
2016: BMJ Open
https://www.readbyqxmd.com/read/27056680/cerebral-cortex-expansion-and-folding-what-have-we-learned
#17
REVIEW
Virginia Fernández, Cristina Llinares-Benadero, Víctor Borrell
One of the most prominent features of the human brain is the fabulous size of the cerebral cortex and its intricate folding. Cortical folding takes place during embryonic development and is important to optimize the functional organization and wiring of the brain, as well as to allow fitting a large cortex in a limited cranial volume. Pathological alterations in size or folding of the human cortex lead to severe intellectual disability and intractable epilepsy. Hence, cortical expansion and folding are viewed as key processes in mammalian brain development and evolution, ultimately leading to increased intellectual performance and, eventually, to the emergence of human cognition...
May 17, 2016: EMBO Journal
https://www.readbyqxmd.com/read/27049990/epilepsy
#18
(no author information available yet)
No abstract text is available yet for this article.
April 6, 2016: Nursing Standard
https://www.readbyqxmd.com/read/26998367/dental-treatment-of-a-child-with-pallister-killian-syndrome
#19
Serhan Didinen, Didem Atabek, Gülay Kip, Aslı Patır Münevveroğlu, Özlem Tulunoğlu
The Pallister-Killian syndrome (PKS) is an extremely rare genetic disorder with an incidence estimated around 1/25000. PKS is a multiple congenital anomaly deficit syndrome caused by mosaic tissue limited tetrasomy for chromosome 12p. The presented report is the first confirmed case with PKS in Turkey. This report focuses on the orofacial clinical manifestations of an 6-year-old boy with PKS who was referred to the Department of Paediatric Dentistry clinic, Gazi University. It has been learned that the PKS was diagnosed 1 year after birth...
2016: Case Reports in Dentistry
https://www.readbyqxmd.com/read/26970410/an-exploration-of-costs-of-community-based-specialist-health-service-provision-for-the-management-of-aggressive-behaviour-in-adults-with-intellectual-disabilities
#20
Gemma Unwin, Shoumitro Deb, Tanya Deb
BACKGROUND: In the UK, people with intellectual disabilities who exhibit aggressive behaviour often receive community-based specialist health services from a community learning disability team (CLDT). Our aim was to estimate costs associated with this provision and to identify predictors of higher costs. METHOD: Costs were estimated for 60 adults with intellectual disabilities and aggressive behaviour who attended specialist psychiatric outpatient clinics in the West Midlands region of the UK, including contact time with members of the CLDT and use of psychotropic medication over a 12-month period...
March 11, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
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