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https://www.readbyqxmd.com/read/28549204/setd5-gene-variant-associated-with-mild-intellectual-disability-a-case-report
#1
E Stur, L A Soares, I D Louro
The recent advent of exome sequencing has allowed for the identification of pathogenic gene variants responsible for a variety of diseases that were previously clinically diagnosed, with no underlying molecular etiology. Among these conditions, intellectual disability is a prevalent heterogeneous condition, presenting itself in a large spectrum of intensity, in some cases associated with congenital malformations, behavioral and various other intellectual development alterations. Here we report on a 36-year-old male patient, with a mild intellectual disability that remained undiagnosed at the molecular level for all his life...
May 25, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28548707/phenotypes-and-genotypes-in-individuals-with-smc1a-variants
#2
Sylvia Huisman, Paul A Mulder, Egbert Redeker, Ingrid Bader, Anne-Marie Bisgaard, Alice Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valerie Cormier-Daire, Matthew A Deardorff, Karin Diderich, Mariet Elting, Anthonie van Essen, David Fitz Patrick, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Katta M Girisha, Yvonne Hilhorst-Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Jo Moss, Sarah E Noon, Chris Oliver, Ilaria Parenti, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara L Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C Hennekam
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype...
May 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28548457/on-the-research-of-time-past-the-hunt-for-the-substrate-of-memory
#3
REVIEW
Bridget N Queenan, Tomás J Ryan, Michael S Gazzaniga, Charles R Gallistel
The search for memory is one of the oldest quests in written human history. For at least two millennia, we have tried to understand how we learn and remember. We have gradually converged on the brain and looked inside it to find the basis of knowledge, the trace of memory. The search for memory has been conducted on multiple levels, from the organ to the cell to the synapse, and has been distributed across disciplines with less chronological or intellectual overlap than one might hope. Frequently, the study of the mind and its memories has been severely restricted by technological or philosophical limitations...
May 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28548002/precursors-of-language-development-in-asc-a-longitudinal-single-subject-study-of-gestures-in-relation-to-phonetic-prosody
#4
Pia M Nordgren
We longitudinally investigated the development of deictic and general accompanying gestures in one 5-year-old boy with autism spectrum condition (ASC) and intellectual disability. The investigation was performed during an intervention focusing on phonological segments. The purpose was to see whether gestures developed in conjunction with language. We found that deictic and general accompanying gestures increased during the study, despite not being trained. There was also a positive temporal correlation between deictic gestures and speech...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28547824/the-promise-of-a-better-group-future-cognitive-alternatives-increase-students-self-efficacy-and-academic-performance
#5
Aarti Iyer, Airong Zhang, Jolanda Jetten, Zhen Hao, Lijuan Cui
Drawing on classic social identity theorizing (Tajfel, Differentiation between social groups: Studies in the social psychology of intergroup relations, London, UK, Academic Press, 1978), we propose that low-status minority group members' self-efficacy and performance on intellectual tasks can be enhanced by prompting them to believe in a better future for their group (i.e., increasing awareness of cognitive alternatives to the existing low-status position). Study 1 manipulated cognitive alternatives among 157 migrant workers' children in China, showing that self-efficacy was enhanced in the high compared to the low cognitive alternative condition...
May 25, 2017: British Journal of Social Psychology
https://www.readbyqxmd.com/read/28545944/deviation-from-expected-cognitive-ability-across-psychotic-disorders
#6
W C Hochberger, T Combs, J L Reilly, J R Bishop, R S E Keefe, B A Clementz, M S Keshavan, G D Pearlson, C A Tamminga, S K Hill, J A Sweeney
Patients with schizophrenia show a deficit in cognitive ability compared to estimated premorbid and familial intellectual abilities. However, the degree to which this pattern holds across psychotic disorders and is familial is unclear. The present study examined deviation from expected cognitive level in schizophrenia, schizoaffective disorder, and psychotic bipolar disorder probands and their first-degree relatives. Using a norm-based regression approach, parental education and WRAT-IV Reading scores (both significant predictors of cognitive level in the healthy control group) were used to predict global neuropsychological function as measured by the composite score from the Brief Assessment of Cognition in Schizophrenia (BACS) test in probands and relatives...
May 22, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28545754/autism-and-convictions-for-violent-crimes-population-based-cohort-study-in-sweden
#7
Ragini Heeramun, Cecilia Magnusson, Clara Hellner Gumpert, Sven Granath, Michael Lundberg, Christina Dalman, Dheeraj Rai
OBJECTIVE: Recent systematic reviews have highlighted that the relationship between autism and violent offending is still unclear, but some cases have received extensive media scrutiny. We investigated whether autism is associated with convictions for violent crimes, and studied the associated risk and protective factors. METHOD: We analyzed data from the Stockholm Youth Cohort, a total population-based record-linkage cohort in Stockholm County comprising 295,734 individuals followed up between 15 and 27 years of age...
June 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28545425/mental-health-training-programmes-for-non-mental-health-trained-professionals-coming-into-contact-with-people-with-mental-ill-health-a-systematic-review-of-effectiveness
#8
Alison Booth, Arabella Scantlebury, Adwoa Hughes-Morley, Natasha Mitchell, Kath Wright, William Scott, Catriona McDaid
BACKGROUND: The police and others in occupations where they come into close contact with people experiencing/with mental ill health, often have to manage difficult and complex situations. Training is needed to equip them to recognise and assist when someone has a mental health issue or learning/intellectual disability. We undertook a systematic review of the effectiveness of training programmes aimed at increasing knowledge, changing behaviour and/or attitudes of the trainees with regard to mental ill health, mental vulnerability, and learning disabilities...
May 25, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28545339/increased-survival-and-partly-preserved-cognition-in-a-patient-with-aco2-related-disease-secondary-to-a-novel-variant
#9
Siddharth Srivastava, Cynthia S Gubbels, Kira Dies, Anne Fulton, Timothy Yu, Mustafa Sahin
ACO2 encodes aconitase 2, catalyzing the second step of the tricarboxylic acid. To date, there are only 6 reported families with 5 unique ACO2 mutations. Affected individuals can develop intellectual disability, epilepsy, brain atrophy, hypotonia, ataxia, optic atrophy, and retinal degeneration. Here, we report an 18-year-old boy with a novel ACO2 variant discovered on whole-exome sequencing. He presented with childhood-onset ataxia, impaired self-help skills comparable to severe-profound intellectual disability, intractable epilepsy, cerebellar atrophy, peripheral neuropathy, optic atrophy, and pigmentary retinopathy...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28544736/molybdenum-cofactor-deficiency-identification-of-a-patient-with-homozygote-mutation-in-the-mocs3-gene
#10
Jan G M Huijmans, Rachel Schot, Johannis B C de Klerk, Monique Williams, René F M de Coo, Marinus Duran, Frans W Verheijen, Marjon van Slegtenhorst, Grazia M S Mancini
We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism, "marfanoid" dysmorphic features, and moderate abnormalities of sulfite metabolism compatible with molybdenum cofactor deficiency, but normal sulfite oxidase activity in cultured skin fibroblasts. Genomic exome analysis revealed a homozygous MOCS3 missense mutation, leading to a p.Ala257Thr substitution in the highly conserved ubiquitin-like-domain of the protein...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544672/providing-end-of-life-care-in-disability-community-living-services-an-organizational-capacity-building-model-using-a-public-health-approach
#11
Andrea Grindrod, Bruce Rumbold
BACKGROUND: There is broad consensus within the disability field that the end-of-life care offered to people with intellectual disabilities should be of a quality consistent with that advocated by contemporary palliative care. In practice, however, various barriers are encountered when applying palliative care strategies to the end-of-life care of people with intellectual disabilities, particularly those in disability community living services. METHODS: A mixed-methods approach was used...
May 24, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28544583/improving-the-occupational-skills-of-students-with-intellectual-disability-by-applying-video-prompting-combined-with-dance-pads
#12
Mei-Lan Lin, Ming-Shan Chiang, Ching-Hsiang Shih, Meng-Fang Li
BACKGROUND: Individuals with intellectual disability (ID) are prone to inattention, are slow in learning and reaction, and have deficits in memory skills. Providing proper vocational education and training for individuals with intellectual disability is able to enhance their occupational skills. MATERIALS AND METHODS: This study applied video prompting to provide instructional prompts to help participants accurately perform an assigned occupational activity. A control system installed with developed software was used to turn a standard dance pad into a sensor to detect the participants' standing position and to automatically trigger video prompting...
May 24, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28544451/protection-and-restriction-a-mixed-methods-study-of-self-reported-well-being-among-youth-with-intellectual-disabilities
#13
Petra Boström, Malin Broberg
BACKGROUND: As most mental health studies of school-aged children with intellectual and developmental disabilities (IDD) are based on proxy ratings, the subjective views of these young persons are rarely explored. The present study explores experiences of well-being, mental ill-health, family, school, and peer relations in students in special education. METHODS: Ten students in special education, aged 13-16 years, answered the Wellbeing in Special Education Questionnaire (WellSEQ) and participated in semi-structured interviews...
May 19, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28544437/autonomy-support-in-people-with-mild-to-borderline-intellectual-disability-testing-the-health-care-climate-questionnaire-intellectual-disability
#14
Noud Frielink, Carlo Schuengel, Petri J C M Embregts
BACKGROUND: Autonomy support in people with intellectual disability (ID) is an important yet understudied topic. Psychometrically sound instruments are lacking. This study tested the factor structure and reliability of an instrument for assessing the extent people with intellectual disability perceive their support staff as autonomy supportive. METHOD: In a single wave, 185 adults with mild-to-borderline intellectual disability filled in an adapted version of the Health Care Climate Questionnaire (i...
May 24, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28544418/assessing-knowledge-and-attitudes-about-end-of-life-evaluation-of-three-instruments-designed-for-adults-with-intellectual-disability
#15
R J Stancliffe, M Y Wiese, S Read, G Jeltes, J M Clayton
BACKGROUND: This paper examines the development and psychometric characteristics of three instruments about end of life, designed for use with adults with intellectual disability (ID). Respectively, the instruments assess understanding of the concept of death, end-of-life planning, and fear of death. METHODS: Part 1: instruments were developed or adapted, and pilot tested with 11 adults with ID and 2 disability staff. Part 2: 39 adults with ID and 40 disability staff were assessed on all three instruments...
May 24, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28544326/haploinsufficiency-of-nr4a2-is-associated-with-a-neurodevelopmental-phenotype-with-prominent-language-impairment
#16
Miriam S Reuter, Mandy Krumbiegel, Gregor Schlüter, Arif B Ekici, André Reis, Christiane Zweier
Non-recurrent deletions in 2q24.1, minimally overlapping two genes, NR4A2 and GPD2, were recently described in individuals with language impairment and behavioral and cognitive symptoms. We herewith report on a female patient with a similar phenotype of severe language and mild cognitive impairment, in whom we identified a de novo deletion covering only NR4A2. NR4A2 encodes a transcription factor highly expressed in brain regions critical for speech and language and implicated in dopaminergic neuronal development...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544303/a-systematic-review-of-the-evidence-regarding-cognitive-therapy-skills-that-assist-cognitive-behavioural-therapy-in-adults-who-have-an-intellectual-disability
#17
REVIEW
Patricia Cooney, Conall Tunney, Gary O'Reilly
BACKGROUND: Cognitive behavioural therapy (CBT) is being increasingly adapted for use with people who have an intellectual disability. However, it remains unclear whether inherent cognitive deficits that are present in adults who have an intellectual disability preclude the use of cognitive-based therapies. This review aims to systematically examine "cognitive therapy skills" in adults who have an intellectual disability that assist engagement in CBT. METHOD: Two authors independently reviewed titles and abstracts of articles located through electronic database searching...
May 24, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28544239/a-novel-variant-in-med12-gene-further-delineation-of-phenotype
#18
Dhanya L Narayanan, Shubha R Phadke
MED12 is a multiprotein mediator complex, which has a role in cell growth and differentiation and has been implicated in three distinct X-linked intellectual disability syndromes with distinctive clinical features. These include Opitz-Kaveggia syndrome (FG syndrome), Lujan syndrome, and X-linked Ohdo syndrome. Recently MED12 variants have been implicated in isolated X-linked intellectual disability. We describe a 5-year-old male patient with intellectual disability and facial dysmorphism and a novel variant in MED12 gene identified by Whole Exome Sequencing...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544175/prevalence-and-potential-factors-associated-with-overweight-and-obesity-status-in-adults-with-intellectual-developmental-disorders
#19
REVIEW
Sobhana Ranjan, Jennifer A Nasser, Kathleen Fisher
BACKGROUND: The prevalence of being overweight and obese is increasing not just in the general population but also in individuals with intellectual disability (ID). Therefore, a need to identify factors contributing to overweight/obesity arises as this population is escalating. MATERIALS AND METHODS: This narrative review article summarizes pertinent research focusing on prevalence and the potential factors associated with overweight and obesity in adults with intellectual disability during the past decade...
May 24, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28544078/emergency-medical-services-providers-perspective-of-end-of-life-decision-making-for-people-with-intellectual-disabilities
#20
Jacqueline McGinley, Deborah P Waldrop, Brian Clemency
BACKGROUND: Emergency medical services (EMS) providers are often called to rapidly determine and act upon patients' wishes for end-of-life care. People with intellectual disabilities are living increasingly longer with complex conditions leading to international calls for person-centred advance care planning. Yet, best estimates suggest that very few people with intellectual disabilities document their wishes. METHODS: This exploratory-descriptive study incorporated mixed methods to analyse data collected consecutively (surveys, n = 239; interviews, n = 48) with EMS providers from five agencies...
May 24, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
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