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https://www.readbyqxmd.com/read/29128445/the-promise-of-induced-pluripotent-stem-cells-for-neurodevelopmental-disorders
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/29040524/potentiation-of-excitatory-synaptic-transmission-ameliorates-aggression-in-mice-with-stxbp1-haploinsufficiency
#4
Hiroyuki Miyamoto, Atsushi Shimohata, Manabu Abe, Teruo Abe, Emi Mazaki, Kenji Amano, Toshimitsu Suzuki, Tetsuya Tatsukawa, Shigeyoshi Itohara, Kenji Sakimura, Kazuhiro Yamakawa
Genetic studies point to a major role of de novo mutations in neurodevelopmental disorders of intellectual disability, autism spectrum disorders, and epileptic encephalopathy. The STXBP1 gene encodes the syntaxin-binding protein 1 (Munc18-1) that critically controls synaptic vesicle exocytosis and synaptic transmission. This gene harbors a high frequency of de novo mutations, which may play roles in these neurodevelopmental disorders. However, the system and behavioral-level pathophysiological changes caused by these genetic defects remain poorly understood...
October 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29026407/congenital-hypothyroidism-insights-into-pathogenesis-and-treatment
#5
REVIEW
Christine E Cherella, Ari J Wassner
Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks posed by mild congenital hypothyroidism, highlighting the need for additional research to further define what risks these patients face and whether they are likely to benefit from treatment...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28993272/gabaergic-over-inhibition-a-promising-hypothesis-for-cognitive-deficits-in-down-syndrome
#6
REVIEW
Zorrilla de San Martin Javier, Jean-Maurice Delabar, Alberto Bacci, Marie-Claude Potier
Down syndrome (DS), also known as trisomy 21, is the most common genetic cause of intellectual disability. It is also a model human disease for exploring consequences of gene dosage imbalance on complex phenotypes. Learning and memory impairments linked to intellectual disabilities in DS could result from synaptic plasticity deficits and excitatory-inhibitory alterations leading to changes in neuronal circuitry in the brain of affected individuals. Increasing number of studies in mouse and cellular models converge towards the assumption that excitatory-inhibitory imbalance occurs in DS, likely early during development...
October 7, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28982809/understanding-the-health-economic-burden-of-patients-with-tuberous-sclerosis-complex-tsc-with-epilepsy-a-retrospective-cohort-study-in-the-uk-clinical-practice-research-datalink-cprd
#7
Charles Shepherd, Matthias Koepp, Melissa Myland, Keyur Patel, Cristiana Miglio, Vathani Siva, Elizabeth Gray, Maureen Neary
INTRODUCTION: Epilepsy is highly prevalent in tuberous sclerosis complex (TSC), a multi-system genetic disorder. The clinical and economic burden of this condition is expected to be substantial due to treatment challenges, debilitating co-morbidities and the relationship between TSC-related manifestations. This study estimated healthcare resource utilisation (HCRU) and costs for patients with TSC with epilepsy (TSC+E) in the UK. METHODS: Patients with TSC+E in the Clinical Practice Research Datalink (CPRD) linked to Hospital Episodes Statistics were identified from April 1997 to March 2012...
October 5, 2017: BMJ Open
https://www.readbyqxmd.com/read/28978667/foxp1-in-forebrain-pyramidal-neurons-controls-gene-expression-required-for-spatial-learning-and-synaptic-plasticity
#8
Daniel J Araujo, Kazuya Toriumi, Christine O Escamilla, Ashwinikumar Kulkarni, Ashley G Anderson, Matthew Harper, Noriyoshi Usui, Jacob Ellegood, Jason P Lerch, Shari G Birnbaum, Haley O Tucker, Craig M Powell, Genevieve Konopka
Genetic perturbations of the transcription factor Forkhead Box P1 (FOXP1) are causative for severe forms of autism spectrum disorder that are often comorbid with intellectual disability. Recent work has begun to reveal an important role for FoxP1 in brain development, but the brain-region-specific contributions of Foxp1 to autism and intellectual disability phenotypes have yet to be fully determined. Here, we describe Foxp1 conditional knockout (Foxp1(cKO) ) male and female mice with loss of Foxp1 in the pyramidal neurons of the neocortex and the CA1/CA2 subfields of the hippocampus...
October 4, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28899917/activity-dependent-dysfunction-in-visual-and-olfactory-sensory-systems-in-mouse-models-of-down-syndrome
#9
Christopher M William, Lubna Saqran, Matthew A Stern, Charles L Chiang, Scott P Herrick, Aziz Rangwala, Mark W Albers, Matthew P Frosch, Bradley T Hyman
Activity-dependent synaptic plasticity plays a critical role in the refinement of circuitry during postnatal development and may be disrupted in conditions that cause intellectual disability, such as Down syndrome (DS). To test this hypothesis, visual cortical plasticity was assessed in Ts65Dn mice that harbor a chromosomal duplication syntenic to human chromosome 21q. We find that Ts65Dn mice demonstrate a defect in ocular dominance plasticity (ODP) following monocular deprivation. This phenotype is similar to that of transgenic mice that express amyloid precursor protein (APP), which is duplicated in DS and in Ts65DN mice; however, normalizing APP gene copy number in Ts65Dn mice fails to rescue plasticity...
October 11, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28867939/biological-markers-of-generalized-anxiety-disorder
#10
Eduard Maron, David Nutt
Generalized anxiety disorder (GAD) is a prevalent and highly disabling mental health condition; however, there is still much to learn with regard to pertinent biomarkers, as well as diagnosis, made more difficult by the marked and common overlap of GAD with affective and anxiety disorders. Recently, intensive research efforts have focused on GAD, applying neuroimaging, genetic, and blood-based approaches toward discovery of pathogenetic and treatment-related biomarkers. In this paper, we review the large amount of available data, and we focus in particular on evidence from neuroimaging, genetic, and neurochemical measurements in GAD in order to better understand potential biomarkers involved in its etiology and treatment...
June 2017: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28833860/chronic-impairment-of-erk-signaling-in-glutamatergic-neurons-of-the-forebrain-does-not-affect-spatial-memory-retention-and-ltp-in-the-same-manner-as-acute-blockade-of-the-erk-pathway
#11
Joseph Vithayathil, Joanna Pucilowska, David Friel, Gary E Landreth
The ERK/MAPK signaling pathway has been extensively studied in the context of learning and memory. Defects in this pathway underlie genetic diseases associated with intellectual disability, including impaired learning and memory. Numerous studies have investigated the impact of acute ERK/MAPK inhibition on long-term potentiation and spatial memory. However, genetic knockouts of the ERKs have not been utilized to determine whether developmental perturbations of ERK/MAPK signaling affect LTP and memory formation in postnatal life...
August 17, 2017: Hippocampus
https://www.readbyqxmd.com/read/28819289/escrt-iii-membrane-trafficking-misregulation-contributes-to-fragile-x-syndrome-synaptic-defects
#12
Dominic J Vita, Kendal Broadie
The leading cause of heritable intellectual disability (ID) and autism spectrum disorders (ASD), Fragile X syndrome (FXS), is caused by loss of the mRNA-binding translational suppressor Fragile X Mental Retardation Protein (FMRP). In the Drosophila FXS disease model, we found FMRP binds shrub mRNA (human Chmp4) to repress Shrub expression, causing overexpression during the disease state early-use critical period. The FXS hallmark is synaptic overelaboration causing circuit hyperconnectivity. Testing innervation of a central brain learning/memory center, we found FMRP loss and Shrub overexpression similarly increase connectivity...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28818679/improved-assays-for-agg-interruptions-in-fragile-x-premutation-carriers
#13
Bruce E Hayward, Karen Usdin
The learning disability fragile X syndrome results from the presence of >200 CGG/CCG repeats in exon 1 of the X-linked gene FMR1. Such alleles arise by expansion from maternally transmitted FMR1 premutation alleles, alleles having 55 to 200 repeats. Expansion risk is directly related to maternal repeat number. However, AGG interruptions to the repeat tract are important modifiers of expansion risk. Thus, the ability to identify such interruptions is crucial for the appropriate genetic counseling of females who are premutation carriers...
August 14, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28781842/rare-form-of-autosomal-dominant-familial-cornelia-de-lange-syndrome-due-to-a-novel-duplication-in-smc3
#14
Elena Infante, Gorka Alkorta-Aranburu, Areeg El-Gharbawy
Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorphic features.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28774568/synaptic-dysfunction-in-amygdala-in-intellectual-disorder-models
#15
REVIEW
Marianne Aincy, Hamid Meziane, Yann Herault, Yann Humeau
The amygdala is a part of the limbic circuit that has been extensively studied in terms of synaptic connectivity, plasticity and cellular organization since decades (Ehrlich et al., 2009; Ledoux, 2000; Maren, 2001). Amygdala sub-nuclei, including lateral, basolateral and central amygdala appear now as "hubs" providing in parallel and in series neuronal processing enabling the animal to elicit freezing or escaping behavior in response to external threats. In rodents, these behaviors are easily observed and quantified following associative fear conditioning...
August 1, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28690312/wolff-parkinson-white-syndrome-with-ventricular-hypertrophy-in-a-brazilian-family
#16
Lenises de Paula van der Steld, Oscar Campuzano, Alexandra Pérez-Serra, Mabel Moura de Barros Zamorano, Selma Sousa Matos, Ramon Brugada
BACKGROUND PRKAG2 syndrome diagnosis is already well-defined as Wolff-Parkinson-White syndrome (WPW), ventricular hypertrophy (VH) due to glycogen accumulation, and conduction system disease (CSD). Because of its rarity, there is a lack of literature focused on the treatment. The present study aimed to describe appropriate strategies for the treatment of affected family members with PRKAG2 syndrome with a long follow-up period. CASE REPORT We studied 60 selected individuals from 84 family members (32 males, 53...
July 10, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28673550/a-rare-case-of-sterol-c4-methyl-oxidase-deficiency-in-a-young-italian-male-biochemical-and-molecular-characterization
#17
Giulia Frisso, Monica Gelzo, Elena Procopio, Concetta Sica, Maria Pia Lenza, Antonio Dello Russo, Maria Alice Donati, Francesco Salvatore, Gaetano Corso
Inborn defects of cholesterol biosynthesis are metabolic disorders presenting with multi-organ and tissue anomalies. An autosomal recessive defect involving the demethylating enzyme C4-methyl sterol (SC4MOL) has been reported in only 4 patients so far. In infancy, all patients were affected by microcephaly, bilateral congenital cataracts, growth delay, psoriasiform dermatitis, immune dysfunction, and intellectual disability. Herein, we describe a new case of SC4MOL deficiency in which a 19-year-old Italian male was affected by bilateral congenital cataracts, growth delay and learning disabilities, behavioral disorders and small stature, but not microcephaly...
June 27, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28586082/otillr%C3%A3-cklig-kunskap-om-samband-mellan-k%C3%A3-nskromosom%C3%A2-%C3%A2-avvikelser-och-psykiatriska-diagnoser-viktigt-att-barn-och-unga-utreds-och-f%C3%A3-r-r%C3%A3-tt-omh%C3%A3-ndertagande
#18
REVIEW
Hanna Björlin Avdic, MaiBritt Giacobini, Britt-Marie Anderlid, Ann Nordgren, Louise Frisén
Sex chromosome abnormalities are among the most common genetic changes. The manifestations vary and may include growth abnormalities, specific appearance features, and other endocrinological and physical disorders, but also delayed psychomotor development, learning disabilities, and psychiatric conditions including ADHD and autism spectrum disorders. Increased knowledge about the relationship between sex chromosome abnormalities, development and psychiatric conditions would enable improved care of these patients...
June 2, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28580010/molecular-and-genetic-insights-into-an-infantile-epileptic-encephalopathy-cdkl5-disorder
#19
Ailing Zhou, Song Han, Zhaolan Joe Zhou
BACKGROUND: The discovery that mutations in cyclin-dependent kinase-like 5 (CDKL5) gene are associated with infantile epileptic encephalopathy has stimulated world-wide research effort to understand the molecular and genetic basis of CDKL5 disorder. Given the large number of literature published thus far, this review aims to summarize current genetic studies, draw a consensus on proposed molecular functions, and point to gaps of knowledge in CDKL5 research. METHODS: A systematic review process was conducted using the PubMed search engine focusing on CDKL5 studies in the recent ten years...
February 2017: Frontiers in Biology
https://www.readbyqxmd.com/read/28574232/a-heritable-microduplication-encompassing-tbl1xr1-causes-a-genomic-sister-disorder-for-the-3q26-32-microdeletion-syndrome
#20
Vera Riehmer, Florian Erger, Peter Herkenrath, Saskia Seland, Miriam Jackels, Alfred Wiater, Raoul Heller, Bodo B Beck, Christian Netzer
Recently, a new syndrome with intellectual disability (ID) and dysmorphic features due to deletions or point mutations within the TBL1XR1 gene located in the chromosomal band 3q26.32 has been described (MRD41, OMIM 616944). One recurrent point mutation in the TBL1XR1 gene has been identified as the cause of Pierpont syndrome (OMIM 602342), a distinct intellectual disability syndrome with plantar lipomatosis. In addition, different de novo point mutations in the TBL1XR1 gene have been found in patients with autism spectrum disorders (ASD) and intellectual disability...
June 2, 2017: American Journal of Medical Genetics. Part A
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