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Intellectual disability

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28639298/prevalence-patterns-and-factors-associated-with-psychotropic-use-in-older-adults-with-intellectual-disabilities-in-ireland
#14
M O'Dwyer, J Peklar, N Mulryan, P McCallion, M McCarron, M C Henman
BACKGROUND: People with intellectual disability (ID) are at increased risk of exposure to psychotropic drugs and psychotropic polypharmacy because of the higher prevalence of mental health conditions present and more controversially, the use of these agents to treat challenging behaviours. Despite the fact that many adults with ID are exposed to psychotropic polypharmacy, few studies to date have focused on the patterns of use of multiple psychotropics, or factors associated with psychotropic polypharmacy, particularly in the older population...
June 21, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28638720/negative-emotion-evoked-by-viewing-snakes-has-a-motivating-effect-on-cognitive-processing-in-human-children-with-or-without-intellectual-disability
#15
Nobuo Masataka
BACKGROUND: It is well known that prioritization of the processing of threatening stimuli generally induces deleterious effects on task performance. However, a study recently reported that emotion (possibly fear) evoked by viewing images of snakes exerts a facilitating effect upon making judgments of the images' color in neurotypical adults and schoolchildren. Here, the author has attempted to confirm the relevance of this notion in children with and without intellectual disability. METHODS: The author here compared the reaction time required to name the colors of snake and flower images between children with Down syndrome (DS) and mental age matched, typically-developing (TD) children...
June 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28638575/danon-disease-for-the-cardiologist-case-report-and-review-of-the-literature
#16
Ryan S D'souza, Luisa Mestroni, Matthew R G Taylor
Danon disease is a rare, X-linked dominant genetic disorder that is caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. It manifests predominantly in young males with a classic triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Death from cardiac disease is the ultimate cause of demise in many patients if left untreated. Given the rarity of the condition, the natural history is poorly understood. Here, we present a case report on a 14-year-old Hispanic boy with Danon disease, highlighting major clinical events and diagnostic study findings over a six-year period from age of symptom onset to age of death...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28637536/mental-health-morbidity-among-people-subject-to-immigration-detention-in-the-uk-a-feasibility-study
#17
P Sen, J Arugnanaseelan, E Connell, C Katona, A A Khan, P Moran, K Robjant, K Slade, J Tan, K Widyaratna, J Youd, A Forrester
AIMS: The UK has one of the largest systems of immigration detention in Europe.. Those detained include asylum-seekers and foreign national prisoners, groups with a higher prevalence of mental health vulnerabilities compared with the general population. In light of little published research on the mental health status of detainees in immigration removal centres (IRCs), the primary aim of this study was to explore whether it was feasible to conduct psychiatric research in such a setting...
June 22, 2017: Epidemiology and Psychiatric Sciences
https://www.readbyqxmd.com/read/28636978/psychiatric-comorbidity-with-hypothalamic-hamartoma-systematic-review-for-predictive-clinical-features
#18
REVIEW
Zachary Killeen, Raymond Bunch, John F Kerrigan
OBJECTIVE: We conducted a systematic review of the English-language literature to identify clinical features associated with a higher risk of psychiatric symptoms (aggression and rage behaviors) in patients with hypothalamic hamartoma (HH) and epilepsy. METHODS: Two publicly-accessible databases (PubMed and Cochrane Library) were searched for Hypothalamic Hamartoma AND Epilepsy. We identified peer-reviewed original research publications (case reports or clinical series; N=19) in which clinical data was provided on an individual basis...
June 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#19
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#20
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
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