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Intellectual disabilities

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https://www.readbyqxmd.com/read/29342244/gli2-rescues-delays-in-brain-development-induced-by-kif3a-dysfunction
#1
Jia-Long Chen, Chia-Hsiang Chang, Jin-Wu Tsai
The primary cilium in neural stem cells plays distinct roles in different stages during cortical development. Ciliary dysfunctions in human (i.e., ciliopathy) cause developmental defects in multiple organs, including brain developmental delays, which lead to intellectual disabilities and cognitive deficits. However, effective treatment to this devastating developmental disorder is still lacking. Here, we first investigated the effects of ciliopathy on neural stem cells by knocking down Kif3a, a kinesin II motor required for ciliogenesis, in the neurogenic stage of cortical development by in utero electroporation of mouse embryos...
January 12, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29341497/defining-behavioral-components-of-social-functioning-in-adults-with-autism-spectrum-disorder-as-targets-for-treatment
#2
Ashley A Pallathra, Monica E Calkins, Julia Parish-Morris, Brenna B Maddox, Leat S Perez, Judith Miller, Ruben C Gur, David S Mandell, Robert T Schultz, Edward S Brodkin
There is increasing recognition that adults with autism spectrum disorder (ASD) would benefit from treatment to improve social functioning, a key factor in adults' overall quality of life. However, the various behavioral components of social functioning (i.e., categories of behaviors underlying social functioning), including social motivation, social anxiety, social cognition, and social skills, have not all been assessed together in any sample of adults with ASD, making it difficult to know the relative levels of impairment in these various categories, the relationships among these categories, or promising targets for treatments...
January 17, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29341480/cutis-laxa-and-excessive-bone-growth-due-to-de-novo-mutations-in-ptdss1
#3
Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341460/intellectual-disability-and-epilepsy-due-to-the-k-l-mediated-xq28-duplication-further-evidence-of-a-distinct-dosage-dependent-phenotype
#4
David Isum Ward, Bethany A Buckley, Eyby Leon, Jullianne Diaz, Margaret Faust Galegos, Sean Hofherr, Amy Feldman Lewanda
Copy number variants of the X-chromosome are a common cause of X-linked intellectual disability in males. Duplication of the Xq28 band has been known for over a decade to be the cause of the Lubs X-linked Mental Retardation Syndrome (OMIM 300620) in males and this duplication has been narrowed to a critical region containing only the genes MECP2 and IRAK1. In 2009, four families with a distal duplication of Xq28 not including MECP2 and mediated by low-copy repeats (LCRs) designated "K" and "L" were reported with intellectual disability and epilepsy...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341204/gender-parental-education-and-experiences-of-bullying-victimization-by-australian-adolescents-with-and-without-a-disability
#5
A Kavanagh, N Priest, E Emerson, A Milner, T King
BACKGROUND: This study sought to compare the prevalence of bullying victimization between adolescents with and without a disability and between adolescents with and without borderline intellectual functioning or intellectual disability (BIF/ID). We also sought to assess whether the relationships between either disability or BIF/ID and bullying victimization vary by gender and parental education. METHODS: The sample included 3,956 12- to 13-year-old adolescents who participated in Wave 5 of the Longitudinal Study of Australian Children...
January 16, 2018: Child: Care, Health and Development
https://www.readbyqxmd.com/read/29340697/genetic-and-clinical-evidence-of-mitochondrial-dysfunction-in-autism-spectrum-disorder-and-intellectual-disability
#6
Alba Valiente-Pallejà, Helena Torrell, Gerard Muntané, Maria J Cortés, Rafael Martínez-Leal, Nerea Abasolo, Yolanda Alonso, Elisabet Vilella, Lourdes Martorell
Clinical conditions commonly associated with mitochondrial disorders (CAMDs) are often present in autism spectrum disorders (ASD) and intellectual disability (ID). Therefore, the mitochondrial dysfunction hypothesis has been proposed as a transversal mechanism that may function in both disorders. Here, we investigated the presence of conditions associated with mitochondrial disorders and mitochondrial DNA (mtDNA) alterations in 122 subjects who presented ASD with ID (ASD group), 115 subjects who presented ID but not ASD (ID group) and 112 healthy controls (HC group)...
January 11, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29339779/novel-recessive-mutations-in-msto1-cause-cerebellar-atrophy-with-pigmentary-retinopathy
#7
Kazuhiro Iwama, Toru Takaori, Ai Fukushima, Jun Tohyama, Akihiko Ishiyama, Chihiro Ohba, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto
Misato 1, mitochondrial distribution and morphology regulator (encoded by the MSTO1 gene), is involved in mitochondrial distribution and morphology. Recently, MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, motor developmental delay, and cerebellar atrophy. Both autosomal dominant and recessive modes of inheritance have been suggested. We performed whole-exome sequencing in two unrelated patients showing cerebellar atrophy, intellectual disability, and pigmentary retinopathy...
January 16, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29339520/targeted-knockout-of-a-chemokine-like-gene-increases-anxiety-and-fear-responses
#8
Jung-Hwa Choi, Yun-Mi Jeong, Sujin Kim, Boyoung Lee, Krishan Ariyasiri, Hyun-Taek Kim, Seung-Hyun Jung, Kyu-Seok Hwang, Tae-Ik Choi, Chul O Park, Won-Ki Huh, Matthias Carl, Jill A Rosenfeld, Salmo Raskin, Alan Ma, Jozef Gecz, Hyung-Goo Kim, Jin-Soo Kim, Ho-Chul Shin, Doo-Sang Park, Robert Gerlai, Bradley B Jamieson, Joon S Kim, Karl J Iremonger, Sang H Lee, Hee-Sup Shin, Cheol-Hee Kim
Emotional responses, such as fear and anxiety, are fundamentally important behavioral phenomena with strong fitness components in most animal species. Anxiety-related disorders continue to represent a major unmet medical need in our society, mostly because we still do not fully understand the mechanisms of these diseases. Animal models may speed up discovery of these mechanisms. The zebrafish is a highly promising model organism in this field. Here, we report the identification of a chemokine-like gene family, samdori (sam), and present functional characterization of one of its members, sam2 We show exclusive mRNA expression of sam2 in the CNS, predominantly in the dorsal habenula, telencephalon, and hypothalamus...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29338461/mtor-dysregulation-and-tuberous-sclerosis-related-epilepsy
#9
Paolo Curatolo, Romina Moavero, Jackelien van Scheppingen, Eleonora Aronica
The mammalian target of rapamycin (mTOR) pathway has emerged as a key player for proper neural network development, and it is involved in epileptogenesis triggered by both genetic or acquired factors. Areas covered. The robust mTOR signaling deregulation observed in a large spectrum of epileptogenic developmental pathologies, such as focal cortical dysplasias and tuberous sclerosis complex (TSC), has been linked to germline and somatic mutations in mTOR pathway regulatory genes, increasing the spectrum of "mTORopathies"...
January 17, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29338029/implicit-learning-deficit-in-children-with-duchenne-muscular-dystrophy-evidence-for-a-cerebellar-cognitive-impairment
#10
Stefano Vicari, Giorgia Piccini, Eugenio Mercuri, Roberta Battini, Daniela Chieffo, Sara Bulgheroni, Chiara Pecini, Simona Lucibello, Sara Lenzi, Federica Moriconi, Marika Pane, Adele D'Amico, Guja Astrea, Giovanni Baranello, Daria Riva, Giovanni Cioni, Paolo Alfieri
This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children. A modified version of the Serial Reaction Time task was administered to 32 Duchenne children and 37 controls of comparable chronological age. The Duchenne group showed a reduced rate of implicit learning even if in the absence of global intellectual disability. This finding provides further evidence of the involvement of specific aspects of cognitive function in Duchenne muscular dystrophy and on its possible neurobiological substrate...
2018: PloS One
https://www.readbyqxmd.com/read/29336639/intellectual-educational-and-situation-based-social-outcome-in-adult-survivors-of-childhood-medulloblastoma
#11
Virginie Kieffer, Mathilde P Chevignard, Georges Dellatolas, Stephanie Puget, Frederic Dhermain, Jacques Grill, Dominique Valteau-Couanet, Christelle Dufour
PURPOSE: To investigate intellectual and situation-based social outcome and educational achievement in adult survivors of childhood medulloblastoma and analyse factors influencing outcome Methods: We collected demographic, medical and cognitive data, and social and educational outcome at a mean time since the end of treatments of 14.9 years in 58 adults, aged 19-35 years, consecutively treated in a single cancer center between 1989 and 2005. RESULTS: Ten survivors had severe intellectual disability, 12 were still studying, 23 had a regular employment and 13 were unemployed...
January 16, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29336507/-learn-ing-what-is-important-to-children-and-young-people-with-intellectual-disabilities-when-they-are-in-hospital
#12
K Oulton, D Sell, F Gibson
BACKGROUND: The need to review health service provision for children and young people (CYP) with disabilities and their families in the United Kingdom has been expressed in multiple reports: the most consistent message being that services need to be tailored to meet their individual needs. Our aim was to understand the hospital-related needs and experiences of CYP with intellectual disabilities. METHOD: An ethnographic study of a neurosciences ward and outpatient department was conducted within a paediatric tertiary hospital setting...
January 16, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29336506/influence-of-culture-change-on-the-perception-of-fear-and-anxiety-pathways-in-endodontics-a-pilot-proof-of-concept-study
#13
Ava Elizabeth Carter, Emad AlShwaimi, Mark Boschen, Geoffery Carter, Roy George
This study assessed the influence of cultural changes (known as acculturation) on pathways of fear and anxiety in Endodontics. A purposive sampling technique identified patients of Saudi Arabian descent living in Australia and Saudi Arabia. Only patients with root canal fillings (or treatment planned for endodontic treatment) were included. Patients with intellectual disabilities, surgical root therapy, and aged under 20 were excluded. Consenting patients attending the dental clinics of University of Griffith University, Australia and University of Dammam, Saudi Arabia completed the "My Endodontic Fear Questionnaire...
January 16, 2018: Australian Endodontic Journal: the Journal of the Australian Society of Endodontology Inc
https://www.readbyqxmd.com/read/29336297/add-on-perampanel-and-aggressive-behaviour-in-severe-drug-resistant-focal-epilepsies
#14
S Juhl, G Rubboli
This study aimed to investigate the incidence of aggressiveness in patients with severe drug-refractory focal epilepsy (DRE) who started perampanel (PER) as add-on treatment, and to identify possible predisposing factors. Data on 49 consecutive patients with severe DRE who initiated PER were retrospectively collected. Twelve of the 49 patients experienced aggressiveness as adverse event related to PER treatment, one third of them on low (2-4 mg/day) PER dosages. PER was discontinued in 10/12 patients because of aggressive behaviors...
October 2017: Functional Neurology
https://www.readbyqxmd.com/read/29336120/the-cognitive-profile-of-sotos-syndrome
#15
Chloe Lane, Elizabeth Milne, Megan Freeth
Sotos syndrome is a congenital overgrowth disorder, associated with intellectual disability. Previous research suggests that Sotos syndrome may be associated with relative strength in verbal ability and relative weakness in non-verbal reasoning ability but this has not been explicitly assessed. To date, the cognitive profile of Sotos syndrome is unknown. Cognitive abilities of a large and representative sample of individuals with Sotos syndrome (N = 52) were assessed using the British Ability Scales (BAS3)...
January 15, 2018: Journal of Neuropsychology
https://www.readbyqxmd.com/read/29335048/antiplaque-antifungal-effectiveness-of-aloevera-among-intellectually-disabled-adolescents-pilot-study
#16
Sachin G Khatri, Srinivasan Raj Samuel, Shashidhar Acharya, Snehal T Patil
PURPOSE: Various candida species have been associated with poor oral hygiene and active carious lesions. The purpose of this study was to evaluate the effectiveness of aloe vera compared to triclosan toothpaste against total candida, C. albicans, C. tropicalis, Candida krusei, and plaque/gingivitis among intellectually disabled adolescents over 30 days. METHODS: A double-blind prospective randomized trial was conducted among 40 intellectually disabled adolescents randomly allocated into aloe vera/triclosan groups...
November 1, 2017: Pediatric Dentistry
https://www.readbyqxmd.com/read/29335037/is-freedom-still-therapy-the-40th-anniversary-of-the-italian-mental-health-care-reform
#17
A Fioritti
On 13 May 1978, the Italian Parliament approved Law 180, universally known as 'Basaglia Law' after the name of the leader of the anti-institutional movement which promoted this radical community mental health care reform. Forty years later, Italian psychiatry still runs a community care system, albeit with degrees of solidity and quality very varied along the peninsula. Mental health care is still an integral part of the National Health System, with liberal regulations on coercion and a lowest number of general hospital and residential facilities beds...
January 16, 2018: Epidemiology and Psychiatric Sciences
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#18
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29330474/a-de-novo-foxp1-truncating-mutation-in-a-patient-originally-diagnosed-as-c-syndrome
#19
Roser Urreizti, Sarah Damanti, Carla Esteve, Héctor Franco-Valls, Laura Castilla-Vallmanya, Raul Tonda, Bru Cormand, Lluïsa Vilageliu, John M Opitz, Giovanni Neri, Daniel Grinberg, Susana Balcells
De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically heterogeneous condition, characterized by trigonocephaly, craniofacial anomalies and ID. Several different chromosome deletions and and point mutations in distinct genes have been associated with the disease in patients originally diagnosed as Opitz C. By whole exome sequencing we identified a de novo splicing mutation in FOXP1 in a patient, initially diagnosed as C syndrome, who suffers from syndromic intellectual disability with trigonocephaly...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29327328/genetic-analysis-of-very-obese-children-with-autism-spectrum-disorder
#20
Herman D Cortes, Rachel Wevrick
Autism spectrum disorder (ASD) is defined by the triad of deficits in social interactions, deficits in communication, and repetitive behaviors. Common co-morbidities in syndromic forms of ASD include intellectual disability, seizures, and obesity. We asked whether very obese children with ASD had different behavioral, physical and genetic characteristics compared to children with ASD who were not obese. We found that very obese children with ASD had significantly poorer scores on standardized behavioral tests...
January 11, 2018: Molecular Genetics and Genomics: MGG
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