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https://www.readbyqxmd.com/read/28650581/deficiency-of-wars2-encoding-mitochondrial-tryptophanyl-trna-synthetase-causes-severe-infantile-onset-leukoencephalopathy
#1
Benjamin E Theisen, Anastasia Rumyantseva, Julie S Cohen, Wendy A Alcaraz, Deepali N Shinde, Sha Tang, Siddarth Srivastava, Jonathan Pevsner, Aleksandra Trifunovic, Ali Fatemi
Pathogenic variants in the mitochondrial aminoacyl tRNA synthetases lead to deficiencies in mitochondrial protein synthesis and are associated with a broad range of clinical presentations usually with early onset and inherited in an autosomal recessive manner. Of the 19 mitochondrial aminoacyl tRNA synthetases, WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, was as of late the only one that had not been associated with disease in humans. A case of a family with pathogenic variants in WARS2 that caused mainly intellectual disability, speech impairment, aggressiveness, and athetosis was recently reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28650482/the-contribution-of-rare-variants-to-risk-of-schizophrenia-in-individuals-with-and-without-intellectual-disability
#2
Tarjinder Singh, James T R Walters, Mandy Johnstone, David Curtis, Jaana Suvisaari, Minna Torniainen, Elliott Rees, Conrad Iyegbe, Douglas Blackwood, Andrew M McIntosh, Georg Kirov, Daniel Geschwind, Robin M Murray, Marta Di Forti, Elvira Bramon, Michael Gandal, Christina M Hultman, Pamela Sklar, Aarno Palotie, Patrick F Sullivan, Michael C O'Donovan, Michael J Owen, Jeffrey C Barrett
By performing a meta-analysis of rare coding variants in whole-exome sequences from 4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and copy number variants from 6,882 cases and 11,255 controls, we show that individuals with schizophrenia carry a significant burden of rare, damaging variants in 3,488 genes previously identified as having a near-complete depletion of loss-of-function variants. In patients with schizophrenia who also have intellectual disability, this burden is concentrated in risk genes associated with neurodevelopmental disorders...
June 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28649782/heterozygous-variants-in-actl6a-encoding-a-component-of-the-baf-complex-are-associated-with-intellectual-disability
#3
Ronit Marom, Mahim Jain, Lindsay C Burrage, I-Wen Song, Brett H Graham, Chester W Brown, Servi J C Stevens, Alexander P A Stegmann, Andrew T Gunter, Julie D Kaplan, Ralitza H Gavrilova, Marwan Shinawi, Jill A Rosenfeld, Yangjin Bae, Alyssa A Tran, Yuqing Chen, James T Lu, Richard A Gibbs, Christine Eng, Yaping Yang, Justine Rousseau, Bert B A de Vries, Philippe M Campeau, Brendan Lee
Pathogenic variants in genes encoding components of the BAF chromatin remodeling complex have been associated with intellectual disability syndromes. We identified heterozygous, novel variants in ACTL6A, a gene encoding a component of the BAF complex, in three subjects with varying degrees of intellectual disability. Two subjects have missense variants affecting highly conserved amino acid residues within the actin-like domain. Missense mutations in the homologous region in yeast actin were previously reported to be dominant lethal and were associated with impaired binding of the human ACTL6A to β-actin and BRG1...
June 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28649312/the-eu-aims-longitudinal-european-autism-project-leap-design-and-methodologies-to-identify-and-validate-stratification-biomarkers-for-autism-spectrum-disorders
#4
Eva Loth, Tony Charman, Luke Mason, Julian Tillmann, Emily J H Jones, Caroline Wooldridge, Jumana Ahmad, Bonnie Auyeung, Claudia Brogna, Sara Ambrosino, Tobias Banaschewski, Simon Baron-Cohen, Sarah Baumeister, Christian Beckmann, Michael Brammer, Daniel Brandeis, Sven Bölte, Thomas Bourgeron, Carsten Bours, Yvette de Bruijn, Bhismadev Chakrabarti, Daisy Crawley, Ineke Cornelissen, Flavio Dell' Acqua, Guillaume Dumas, Sarah Durston, Christine Ecker, Jessica Faulkner, Vincent Frouin, Pilar Garces, David Goyard, Hannah Hayward, Lindsay M Ham, Joerg Hipp, Rosemary J Holt, Mark H Johnson, Johan Isaksson, Prantik Kundu, Meng-Chuan Lai, Xavier Liogier D'ardhuy, Michael V Lombardo, David J Lythgoe, René Mandl, Andreas Meyer-Lindenberg, Carolin Moessnang, Nico Mueller, Laurence O'Dwyer, Marianne Oldehinkel, Bob Oranje, Gahan Pandina, Antonio M Persico, Amber N V Ruigrok, Barbara Ruggeri, Jessica Sabet, Roberto Sacco, Antonia San José Cáceres, Emily Simonoff, Roberto Toro, Heike Tost, Jack Waldman, Steve C R Williams, Marcel P Zwiers, Will Spooren, Declan G M Murphy, Jan K Buitelaar
BACKGROUND: The tremendous clinical and aetiological diversity among individuals with autism spectrum disorder (ASD) has been a major obstacle to the development of new treatments, as many may only be effective in particular subgroups. Precision medicine approaches aim to overcome this challenge by combining pathophysiologically based treatments with stratification biomarkers that predict which treatment may be most beneficial for particular individuals. However, so far, we have no single validated stratification biomarker for ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28649281/chromosome-12q13-13q13-13-microduplication-and-microdeletion-a-case-report-and-literature-review
#5
Jie Hu, Zhishuo Ou, Elena Infante, Sally J Kochmar, Suneeta Madan-Khetarpal, Lori Hoffner, Shafagh Parsazad, Urvashi Surti
BACKGROUND: Duplications or deletions in the 12q13.13 region are rare. Only scattered cases with duplications and/or deletions in this region have been reported in the literature or in online databases. Owing to the limited number of patients with genomic alteration within this region and lack of systematic analysis of these patients, the common clinical manifestation of these patients has remained elusive. CASE PRESENTATION: Here we report an 802 kb duplication in the 12q13...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28649192/deleterious-effects-of-chronic-folate-deficiency-in-the-ts65dn-mouse-model-of-down-syndrome
#6
Susan Helm, Morgan Blayney, Taylor Whited, Mahjabin Noroozi, Sen Lin, Semira Kern, David Green, Ahmad Salehi
Folate is an important B vitamin naturally found in the human diet and plays a critical role in methylation of nucleic acids. Indeed, abnormalities in this major epigenetic mechanism play a pivotal role in the pathogenesis of cognitive deficit and intellectual disability in humans. The most common cause of cognitive dysfunction in children is Down syndrome (DS). Since folate deficiency is very common among the pediatric population, we questioned whether chronic folate deficiency (CFD) exacerbates cognitive dysfunction in a mouse model of DS...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28648511/disorder-of-thyroid-hormone-transport-into-the-tissues
#7
REVIEW
Stefan Groeneweg, W Edward Visser, Theo J Visser
Transport of thyroid hormone (TH) across the plasma membrane is essential for intracellular TH metabolism and action, and this is mediated by specific transporter proteins. During the last two decades several transporters capable of transporting TH have been identified, including monocarboxylate transporter 8 (MCT8), MCT10 and organic anion transporting polypeptide 1C1 (OATP1C1). In particular MCT8 and OATP1C1 are important for the regulation of local TH activity in the brain and thus for brain development...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28647555/normalizing-the-gene-dosage-of-dyrk1a-in-a-mouse-model-of-down-syndrome-rescues-several-alzheimer-s-disease-phenotypes
#8
Susana García-Cerro, Noemí Rueda, Verónica Vidal, Sara Lantigua, Carmen Martínez-Cué
The intellectual disability that characterizes Down syndrome (DS) is primarily caused by prenatal changes in central nervous system growth and differentiation. However, in later life stages, the cognitive abilities of DS individuals progressively decline due to accelerated aging and the development of Alzheimer's disease (AD) neuropathology. The AD neuropathology in DS has been related to the overexpression of several genes encoded by Hsa21 including DYRK1A (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), which encodes a protein kinase that performs crucial functions in the regulation of multiple signaling pathways that contribute to normal brain development and adult brain physiology...
June 21, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28647010/social-skills-training-for-children-and-adolescents-with-autism-spectrum-disorder-a-randomized-controlled-trial
#9
Nora Choque Olsson, Oskar Flygare, Christina Coco, Anders Görling, Anna Råde, Qi Chen, Katarina Lindstedt, Steve Berggren, Eva Serlachius, Ulf Jonsson, Kristiina Tammimies, Lars Kjellin, Sven Bölte
OBJECTIVE: Social skills group training (SSGT) for children and adolescents with autism spectrum disorder (ASD) is widely applied, but effectiveness in real-world practice has not yet been properly evaluated. This study sought to bridge this gap. METHOD: This 12-week pragmatic randomized controlled trial of SSGT compared to standard care alone was conducted at 13 child and adolescent psychiatry outpatient units in Sweden. Twelve sessions of manualized SSGT ("KONTAKT") were delivered by regular clinical staff...
July 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#10
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28645552/mortality-following-augmentation-cystoplasty-a-transitional-urologist-s-viewpoint
#11
REVIEW
D A Husmann
INTRODUCTION: Three complications have been hypothesized to increase patient mortality following enterocystoplasty: spontaneous bladder perforation, bladder neoplasia, and chronic renal failure (CRF). The present study examined risk of their occurrence and discussed ways to improve the quality of care. MATERIALS AND METHODS: The present transitional clinic followed 385 patients with a history of bladder augmentation using either ileal, sigmoid, or ascending colon...
June 3, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28645026/measuring-physical-activity-with-accelerometers-for-individuals-with-intellectual-disability-a-systematic-review
#12
REVIEW
Willie Leung, Erin A Siebert, Joonkoo Yun
BACKGROUND: Multiple studies have reported differing physical activity levels for individuals with intellectual disabilities when using accelerometers. One of the potential reasons for these differences may be due to how researchers measure physical activity. Currently there is a lack of understanding on measurement protocol of accelerometers. AIMS: The purpose of this study was to synthesize the current practice of using accelerometers to measure physical activity levels among individuals with intellectual disabilities...
June 20, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28643371/peer-reviewed-articles-on-inclusive-research-do-co-researchers-with-intellectual-disabilities-have-a-voice
#13
Iva Strnadová, Jan Walmsley
BACKGROUND: Inclusive research is increasingly common in intellectual disabilities research, but ways in which voice of co-researchers with intellectual disabilities is presented remain underexplored in the literature. MATERIALS AND METHOD: The authors conducted a literature review and analysis of peer-reviewed journal articles reporting on inclusive research. The aim was to explore the ways the voices of co-researchers with intellectual disabilities are represented in published peer-reviewed journal articles...
June 22, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28643035/clinical-and-imaging-presentation-of-a%C3%A2-patient-with-beta-propeller-protein-associated-neurodegeneration-a%C3%A2-rare-and-sporadic-form-of-neurodegeneration-with-brain-iron-accumulation-nbia
#14
Elke Hattingen, Nikolaus Handke, Kirsten Cremer, Sabine Hoffjan, Guido Matthias Kukuk
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurologic disorders with iron accumulation in the basal ganglia, which share magnetic resonance (MR) imaging characteristics, histopathologic and clinical features. According to the affected basal nuclei, clinical features include extrapyramidal movement disorders and varying degrees of intellectual disability status. The most common NBIA subtype is caused by pathogenic variants in PANK2. The hallmark of MR imaging in patients with PANK2 mutations is an eye-of-the-tiger sign in the globus pallidus...
June 22, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/28641213/measurement-properties-of-screening-and-diagnostic-tools-for-autism-spectrum-adults-of-mean-normal-intelligence-a-systematic-review
#15
A Baghdadli, F Russet, L Mottron
BACKGROUND: The autism spectrum (AS) is a multifaceted neurodevelopmental variant associated with lifelong challenges. Despite the relevant importance of identifying AS in adults for epidemiological, public health, and quality of life issues, the measurement properties of the tools currently used to screen and diagnose adults without intellectual disabilities (ID) have not been assessed. OBJECTIVES: This systematic review addresses the accuracy, reliability, and validity of the reported AS screening and diagnostic tools used in adults without ID...
May 17, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28641168/aicardi-syndrome-and-cognitive-abilities-a-report-of-five-cases
#16
Mia Tuft, Ylva Østby, Karl O Nakken, Caroline Lund
Aicardi syndrome is a rare neurodevelopmental disorder with agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms as the main features. The outcome is in general severe, with poor cognitive development and difficult-to-treat epilepsy. In this study, we assessed the level of cognitive function of five girls with Aicardi syndrome, using normed population based tests and questionnaires. Their cognitive abilities varied from mild to profound intellectual disabilities. The more severe the epilepsy, the poorer were the cognitive skills...
June 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28640668/absence-of-the-fragile-x-mental-retardation-protein-results-in-defects-of-rna-editing-of-neuronal-mrnas-in-mouse
#17
Alice Filippini, Daniela Bonini, Caroline Lacoux, Laura Pacini, Maria Zingariello, Laura Sancillo, Daniela Bosisio, Valentina Salvi, Jessica Mingardi, Luca La Via, Francesca Zalfa, Claudia Bagni, Alessandro Barbon
The fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the absence of FMRP, a protein regulating RNA metabolism. Recently, an unexpected function of FMRP in modulating the activity of Adenosine Deaminase Acting on RNA (ADAR) enzymes has been reported both in Drosophila and Zebrafish. ADARs are RNA-binding proteins that increase transcriptional complexity through a post-transcriptional mechanism called RNA editing. In order to evaluate the ADAR2-FMRP interaction in mammals we analysed several RNA editing re-coding sites in the fmr1 knockout (KO) mice...
June 22, 2017: RNA Biology
https://www.readbyqxmd.com/read/28639495/substance-use-in-adolescents-with-mental-illness-in-durban-south-africa
#18
Bhoodeo Taukoor, Saeeda Paruk, Enver Karim, Jonathan K Burns
Comorbid substance use in adolescents with mental illness is often an indicator of poor treatment outcome. This study aims to determine the prevalence of, and associated risk factors for, substance use in adolescents with mental illness attending a mental health service. Data was collected from hospital records of 162 adolescents, using a structured data sheet, over a two-year period. Substance use was more significant in older adolescents and those with severe mental illness. Sixty-two (38.3%) adolescents used substances...
May 2017: Journal of Child and Adolescent Mental Health
https://www.readbyqxmd.com/read/28639491/family-centred-services-for-young-children-with-intellectual-disabilities-and-their-families-theory-policy-and-practice
#19
Jóna G Ingólfsdóttir, Snæfrídur Thóra Egilson, Rannveig Traustadóttir
This paper outlines the reported discrepancies between the aims of the welfare services in Iceland and the experiences of parents raising young children with intellectual disabilities. Prevailing views on disability and service delivery were also considered. A multi case study design was employed to reflect the situation in different parts of the country. Families of eight children with intellectual disabilities and professionals in three different municipalities formed the cases. The findings reveal a high convergence between the three cases with variations based on individual experiences rather than geographical location...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28639490/the-role-of-special-education-teachers-in-facilitating-peer-relationships-among-students-with-mild-intellectual-disabilities-in-lower-secondary-school
#20
Hanne Marie Høybråten Sigstad
BACKGROUND: Students with intellectual disabilities may lack sufficiently developed skills to initiate qualitatively good social interactions; thus, they might be in need of assistance. This study examined special education teachers' role in facilitating peer relationships among students with mild intellectual disabilities in a mainstream school context. MATERIALS AND METHODS: The study was based on qualitative semi-structured interviews with nine special education teachers who belong to special education groups in lower secondary schools...
January 1, 2017: Journal of Intellectual Disabilities: JOID
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