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https://www.readbyqxmd.com/read/29351346/the-congenital-heart-disease-genetic-network-study-cohort-description
#1
Thanh T Hoang, Elizabeth Goldmuntz, Amy E Roberts, Wendy K Chung, Jennie K Kline, John E Deanfield, Alessandro Giardini, Adolfo Aleman, Bruce D Gelb, Meghan Mac Neal, George A Porter, Richard Kim, Martina Brueckner, Richard P Lifton, Sharon Edman, Stacy Woyciechowski, Laura E Mitchell, A J Agopian
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects) and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot) and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome). Cases with CHDs were recruited through ten sites, 2010-2014...
2018: PloS One
https://www.readbyqxmd.com/read/29317619/phf8-histone-demethylase-deficiency-causes-cognitive-impairments-through-the-mtor-pathway
#2
Xuemei Chen, Shuai Wang, Ying Zhou, Yanfei Han, Shengtian Li, Qing Xu, Longyong Xu, Ziqi Zhu, Youming Deng, Lu Yu, Lulu Song, Adele Pin Chen, Juan Song, Eiki Takahashi, Guang He, Lin He, Weidong Li, Charlie Degui Chen
Epigenomic abnormalities caused by genetic mutation in epigenetic regulators can result in neurodevelopmental disorders, deficiency in neural plasticity and mental retardation. As a histone demethylase, plant homeodomain finger protein 8 (Phf8) is a candidate gene for syndromal and non-specific forms of X-chromosome-linked intellectual disability (XLID). Here we report that Phf8 knockout mice displayed impaired learning and memory, and impaired hippocampal long-term potentiation (LTP) without gross morphological defects...
January 9, 2018: Nature Communications
https://www.readbyqxmd.com/read/29317601/common-basis-for-orofacial-clefting-and-cortical-interneuronopathy
#3
Lydia J Ansen-Wilson, Joshua L Everson, Dustin M Fink, Henry W Kietzman, Ruth Sullivan, Robert J Lipinski
Orofacial clefts (OFCs) of the lip and/or palate are among the most common human birth defects. Current treatment strategies focus on functional and cosmetic repair but even when this care is available, individuals born with OFCs are at high risk for persistent neurobehavioral problems. In addition to learning disabilities and reduced academic achievement, recent evidence associates OFCs with elevated risk for a constellation of psychiatric outcomes including anxiety disorders, autism spectrum disorder, and schizophrenia...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29305597/grammar-clinical-marker-yields-substantial-heritability-for-language-impairments-in-16-year-old-twins
#4
Philip S Dale, Mabel L Rice, Kaili Rimfeld, Marianna E Hayiou-Thomas
Purpose: There is a need for well-defined language phenotypes suitable for adolescents in twin studies and other large-scale research projects. Rice, Hoffman, and Wexler (2009) have developed a grammatical judgment measure as a clinical marker of language impairment, which has an extended developmental range to adolescence. Method: We conducted the first twin analysis, along with associated phenotypic analyses of validity, of an abridged, 20-item version of this grammatical judgment measure (GJ-20), based on telephone administration using prerecorded stimuli to 405 pairs of 16-year-olds (148 monozygotic and 257 dizygotic) drawn from the Twins Early Development Study (Haworth, Davis, & Plomin, 2012)...
January 5, 2018: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/29280247/learning-by-observation-and-learning-by-doing-in-down%C3%A2-and%C3%A2-williams%C3%A2-syndromes
#5
Francesca Foti, Deny Menghini, Paolo Alfieri, Floriana Costanzo, Laura Mandolesi, Laura Petrosini, Stefano Vicari
New skills may be learned by active experience (experiential learning or learning by doing) or by observation of others' experience (learning by observation). In general, learning by observation reduces the time and the attempts needed to learn complex actions and behaviors. The present research aimed to compare learning by observation and learning by doing in two clinical populations with different etiology of intellectual disability (ID), as individuals with Down syndrome (DS) and individuals with Williams syndrome (WS), with the hypothesis that specific profiles of learning may be found in each syndrome...
December 26, 2017: Developmental Science
https://www.readbyqxmd.com/read/29274129/newborn-screening-for-galactosaemia
#6
REVIEW
Rohollah Lak, Bahareh Yazdizadeh, Majid Davari, Mojtaba Nouhi, Roya Kelishadi
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This is a rare and potentially lethal condition that classically presents in the first week of life once milk feeds have commenced. Affected babies may present with any or all of the following: cataracts; fulminant liver failure; prolonged jaundice; or Escherichia coli sepsis. Once the diagnosis is suspected, feeds containing galactose must be stopped immediately and replaced with a soya-based formula...
December 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29260487/bilingual-cancer-genetic-education-modules-for-the-deaf-community-development-and-evaluation-of-the-online-video-material
#7
Patrick Boudreault, Alicia Wolfson, Barbara Berman, Vickie L Venne, Janet S Sinsheimer, Christina Palmer
Health information about inherited forms of cancer and the role of family history in cancer risk for the American Sign Language (ASL) Deaf community, a linguistic and cultural community, needs improvement. Cancer genetic education materials available in English print format are not accessible for many sign language users because English is not their native or primary language. Per Center for Disease Control and Prevention recommendations, the level of literacy for printed health education materials should not be higher than 6th grade level (~ 11 to 12 years old), and even with this recommendation, printed materials are still not accessible to sign language users or other nonnative English speakers...
December 20, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29220673/de-novo-variants-in-gria4-lead-to-intellectual-disability-with-or-without-seizures-and-gait-abnormalities
#8
Sonja Martin, Adam Chamberlin, Deepali N Shinde, Maja Hempel, Tim M Strom, Allison Schreiber, Jessika Johannsen, Lilian Bomme Ousager, Martin J Larsen, Lars Kjaersgaard Hansen, Ali Fatemi, Julie S Cohen, Johannes Lemke, Kristina P Sørensen, Katherine L Helbig, Davor Lessel, Rami Abou Jamra
Using trio whole-exome sequencing, we have identified de novo heterozygous pathogenic variants in GRIA4 in five unrelated individuals with intellectual disability and other symptoms. GRIA4 encodes an AMPA receptor subunit known as GluR4, which is found on excitatory glutamatergic synapses and is important for learning and memory. Four of the variants are located in the highly conserved SYTANLAAF motif in the transmembrane protein M3, and the fifth is in an extra-cellular domain. Molecular modeling of the altered protein showed that three of the variants in the SYTANLAAF motif orient toward the center of the pore region and most likely lead to disturbance of the gating mechanism...
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29217836/drug-development-for-neurodevelopmental-disorders-lessons-learned-from-fragile-x-syndrome
#9
REVIEW
Elizabeth M Berry-Kravis, Lothar Lindemann, Aia E Jønch, George Apostol, Mark F Bear, Randall L Carpenter, Jacqueline N Crawley, Aurore Curie, Vincent Des Portes, Farah Hossain, Fabrizio Gasparini, Baltazar Gomez-Mancilla, David Hessl, Eva Loth, Sebastian H Scharf, Paul P Wang, Florian Von Raison, Randi Hagerman, Will Spooren, Sébastien Jacquemont
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden. FXS is the most frequent monogenic form of intellectual disability and autism, and the underlying pathophysiology linked to its causal gene, FMR1, has been the focus of intense research. Key alterations in synaptic function thought to underlie this neurodevelopmental disorder have been characterized and rescued in animal models of FXS using genetic and pharmacological approaches...
December 8, 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/29217683/insulin-like-growth-factor-ii-targets-the-mtor-pathway-to-reverse-autism-like-phenotypes-in-mice
#10
Adam B Steinmetz, Sarah A Stern, Amy S Kohtz, Giannina Descalzi, Cristina M Alberini
Autism spectrum disorder (ASD) is a developmental disability characterized by impairments in social interaction and repetitive behavior, and is also associated with cognitive deficits. There is no current treatment that can ameliorate most of the ASD symptomatology; thus, identifying novel therapies is urgently needed. We used male BTBR T+Itpr3tf /J (BTBR) mice, a model that reproduces most of the core behavioral phenotypes of ASD, to test the effects of systemic administration of insulin like growth factor II (IGF-II), a polypeptide that crosses the blood brain barrier and acts as a cognitive enhancer...
December 7, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29214565/intellectual-disability-rare-disorders-a-diagnostic-challenge
#11
Malin Kvarnung, Ann Nordgren
Rare disorders constitute a large and heterogeneous group of diagnoses of which many cause chronic disabilities with significant impact on the lives of affected individuals and their families as well as on the health-care system. Each individual disorder is rare, but when considered as a group, rare disorders are common with a total prevalence of approximately 6-8%. The clinical presentation of these disorders includes a broad diversity of symptoms and signs, often involving the nervous system and resulting in symptoms such as intellectual disability, neuropsychiatric disorders, epilepsy and motor dysfunction...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29205794/biallelic-mutations-in-lars2-can-cause-perrault-syndrome-type-2-with-neurologic-symptoms
#12
Rika Kosaki, Reiko Horikawa, Eriko Fujii, Kenjiro Kosaki
Perrault syndrome represents a genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and ovarian dysfunction in females. Causative genes include HARS2, HSD17B4, CLPP, C10orf2, and LARS2. Some patients with Perrault syndrome exhibit neurologic features including learning disability, cerebellar ataxia, and peripheral neuropathy and are classified as type 2 and are clinically separate from those without neurological symptoms other than a hearing loss (type 1). To date, all reported patients with LARS2 mutations (15 patients in 8 families) have been classified as type 1...
December 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29203796/aerobic-exercise-and-a-bdnf-mimetic-therapy-rescue-learning-and-memory-in-a-mouse-model-of-down-syndrome
#13
Martina Parrini, Diego Ghezzi, Gabriele Deidda, Lucian Medrihan, Enrico Castroflorio, Micol Alberti, Pietro Baldelli, Laura Cancedda, Andrea Contestabile
Down syndrome (DS) is caused by the triplication of human chromosome 21 and represents the most frequent genetic cause of intellectual disability. The trisomic Ts65Dn mouse model of DS shows synaptic deficits and reproduces the essential cognitive disabilities of the human syndrome. Aerobic exercise improved various neurophysiological dysfunctions in Ts65Dn mice, including hippocampal synaptic deficits, by promoting synaptogenesis and neurotransmission at glutamatergic terminals. Most importantly, the same intervention also prompted the recovery of hippocampal adult neurogenesis and synaptic plasticity and restored cognitive performance in trisomic mice...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29198282/neuropsychology-of-learning-disabilities-the-past-and-the-future
#14
Jack M Fletcher, Elena L Grigorenko
Over the past 50 years, research on children and adults with learning disabilities has seen significant advances. Neuropsychological research historically focused on the administration of tests sensitive to brain dysfunction to identify putative neural mechanisms underlying learning disabilities that would serve as the basis for treatment. Led by research on classifying and identifying learning disabilities, four pivotal changes in research paradigms have produced a contemporary scientific, interdisciplinary, and international understanding of these disabilities...
October 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/29176958/new-multiple-sclerosis-disease-severity-scale-predicts-future-accumulation-of-disability
#15
Ann Marie Weideman, Christopher Barbour, Marco Aurelio Tapia-Maltos, Tan Tran, Kayla Jackson, Peter Kosa, Mika Komori, Alison Wichman, Kory Johnson, Mark Greenwood, Bibiana Bielekova
The search for the genetic foundation of multiple sclerosis (MS) severity remains elusive. It is, in fact, controversial whether MS severity is a stable feature that predicts future disability progression. If MS severity is not stable, it is unlikely that genotype decisively determines disability progression. An alternative explanation tested here is that the apparent instability of MS severity is caused by inaccuracies of its current measurement. We applied statistical learning techniques to a 902 patient-years longitudinal cohort of MS patients, divided into training (n = 133) and validation (n = 68) sub-cohorts, to test four hypotheses: (1) there is intra-individual stability in the rate of accumulation of MS-related disability, which is also influenced by extrinsic factors...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29166674/unpredictable-chronic-mild-stress-differentially-impairs-social-and-contextual-discrimination-learning-in-two-inbred-mouse-strains
#16
Michiel van Boxelaere, Jason Clements, Patrick Callaerts, Rudi D'Hooge, Zsuzsanna Callaerts-Vegh
Alterations in the social and cognitive domain are considered important indicators for increased disability in many stress-related disorders. Similar impairments have been observed in rodents chronically exposed to stress, mimicking potential endophenotypes of stress-related psychopathologies such as major depression disorder (MDD), anxiety, conduct disorder, and posttraumatic stress disorder (PTSD). Data from numerous studies suggest that deficient plasticity mechanisms in hippocampus (HC) and prefrontal cortex (PFC) might underlie these social and cognitive deficits...
2017: PloS One
https://www.readbyqxmd.com/read/29164086/a-novel-missense-mutation-of-the-nsd1-gene-associated-with-overgrowth-in-three-generations-of-an-italian-family-case-report-differential-diagnosis-and-review-of-mutations-of-nsd1-gene-in-familial-sotos-syndrome
#17
Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri
Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile) showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29128445/the-promise-of-induced-pluripotent-stem-cells-for-neurodevelopmental-disorders
#18
REVIEW
Katrin Linda, Carol Fiuza, Nael Nadif Kasri
A major challenge in clinical genetics and medicine is represented by genetically and phenotypically highly diverse neurodevelopmental disorders, like for example intellectual disability and autism. Intellectual disability is characterized by substantial limitations in cognitive function and adaptive behaviour. At the cellular level, this is reflected by deficits in synaptic structure and plasticity and therefore has been coined as a synaptic disorder or "synaptopathy". In this review, we summarize the findings from recent studies in which iPSCs have been used to model specific neurodevelopmental syndromes, including Fragile X syndrome, Rett syndrome, Williams-Beuren syndrome and Phelan-McDermid syndrome...
November 8, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29075560/deletion-of-fmr1-results-in-sex-specific-changes-in-behavior
#19
Suzanne O Nolan, Conner D Reynolds, Gregory D Smith, Andrew J Holley, Brianna Escobar, Matthew A Chandler, Megan Volquardsen, Taylor Jefferson, Ashvini Pandian, Tileena Smith, Jessica Huebschman, Joaquin N Lugo
OBJECTIVE: In this study, we used a systemic Fmr1 knockout in order to investigate both genotype- and sex-specific differences across multiple measures of sociability, repetitive behaviors, activity levels, anxiety, and fear-related learning and memory. BACKGROUND: Fragile X syndrome is the most common monogenic cause of intellectual disability and autism. Few studies to date have examined sex differences in a mouse model of Fragile X syndrome, though clinical data support the idea of differences in both overall prevalence and phenotype between the sexes...
October 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29042000/nociceptive-blink-reflex-habituation-biofeedback-in-migraine
#20
M de Tommaso, M Delussi
Reduced habituation of the nociceptive blink reflex (NBR) is considered a trait marker for genetic predisposition to migraine. In this open-label randomized controlled study, we aimed to test the efficacy of a biofeedback training based on learning of habituation of the NBR (NBR biofeedback) compared with pharmacological (topiramate) treatment and NBR biofeedback plus topiramate treatment in a cohort of migraine without aura patients eligible for prophylaxis. Thirty-three migraine patients were randomly assigned to three months of treatment with: 1) NBR biofeedback, 2) NBR biofeedback plus topiramate 50 mg (b...
July 2017: Functional Neurology
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