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https://www.readbyqxmd.com/read/27911004/a-comparison-of-the-neuropsychological-profiles-of-people-living-in-squalor-without-hoarding-to-those-living-in-squalor-associated-with-hoarding
#1
Sook Meng Lee, Matthew Lewis, Deborah Leighton, Ben Harris, Brian Long, Stephen Macfarlane
OBJECTIVE: Squalor affects 1 in 1000 older people and is regarded as a secondary condition to other primary disorders such as dementia, intellectual impairment and alcohol abuse. Squalor frequently is associated with hoarding behaviour. We compared the neuropsychological profile of people living in squalor associated with hoarding to those presenting with squalor only. METHODS: This study is a retrospective case series of hospital inpatient and community healthcare services of 69 people living in squalor (49 from aged care, 16 from aged psychiatry, 3 from acute medical and 1 from a memory clinic)...
December 2, 2016: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/27910254/identification-and-analysis-of-factors-contributing-to-the-reduction-in-seclusion-and-restraint-for-a-population-with-intellectual-disability
#2
Caroline Larue, Marie-Hélène Goulet, Marie-Josée Prevost, Alexandre Dumais, Jacques Bellavance
BACKGROUND: A cohort of 11 patients with an intellectual disability and a psychiatric diagnosis present severe behavioural disorders in psychiatric hospital of Quebec in 2009. Control-measure use for this clientele has now been reduced. How do management personnel, families and care teams explain the changes? What clinical interventions did management and care providers implement that contributed to the reduction? METHOD: A retrospective case study was conducted...
December 2, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/27909982/erratum-to-genetic-approach-to-diagnosis-of-intellectual-disability
#3
Ratna Dua Puri, Moni Tuteja, I C Verma
No abstract text is available yet for this article.
December 1, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27909690/intellectual-functioning-in-children-with-congenital-heart-defects-treated-with-surgery-or-by-catheter-interventions
#4
Carmen Ryberg, Jan Sunnegårdh, Maria Thorson, Malin Broberg
BACKGROUND: Studies suggest that children with congenital heart defects (CHD) are at risk for adverse intellectual functioning. However, factors related to lower intellectual functioning in this group are largely unknown. This study describes intellectual functioning in children with CHD in relation to severity of the heart defect, the child's age, and the socioeconomic status of the family (SES). METHODS: Two hundred twenty-eight children treated with surgery or by catheter technique were tested using the Wechsler intelligence scales to determine full scale IQ (FSIQ)...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27908782/adaptive-responses-of-neuronal-mitochondria-to-bioenergetic-challenges-roles-in-neuroplasticity-and-disease-resistance
#5
REVIEW
Sophia M Raefsky, Mark P Mattson
An important concept in neurobiology is "neurons that fire together, wire together" which means that the formation and maintenance of synapses is promoted by activation of those synapses. Very similar to the effects of the stress of exercise on muscle cells, emerging findings suggest that neurons respond to activity by activating signaling pathways (e.g., Ca(2+), CREB, PGC-1α, NF-κB) that stimulate mitochondrial biogenesis and cellular stress resistance. These pathways are also activated by aerobic exercise and food deprivation, two bioenergetic challenges of fundamental importance in the evolution of the brains of all mammals, including humans...
November 28, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27906985/egypt-its-artists-intellectuals-and-neglected-tropical-diseases
#6
EDITORIAL
Peter J Hotez, Moustapha Kassem
No abstract text is available yet for this article.
December 2016: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/27906720/decisions-regarding-forgoing-life-sustaining-treatments
#7
Gail A Van Norman
PURPOSE OF REVIEW: Decisions to forego life-sustaining treatments are complex, and disagreements between physicians and patients occur. This review discusses recent findings regarding what factors influence physicians and patients or their surrogates in these decisions and considers whether futility arguments regarding life-sustaining treatments should be abandoned. RECENT FINDINGS: Cardiopulmonary resuscitation is one paradigm in the literature for studying end-of-life decision-making...
November 30, 2016: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/27906518/functional-development-of-the-brain-s-face-processing-system
#8
REVIEW
Frank Haist, Gizelle Anzures
In the first 20 years of life, the human brain undergoes tremendous growth in size, weight, and synaptic connectedness. Over the same time period, a person achieves remarkable transformations in perception, thought, and behavior. One important area of development is face processing ability, or the ability to quickly and accurately extract extensive information about a person's identity, emotional state, attractiveness, intention, and numerous other types of information that are crucial to everyday social interaction and communication...
December 1, 2016: Wiley Interdisciplinary Reviews. Cognitive Science
https://www.readbyqxmd.com/read/27906199/microduplication-of-the-arid1a-gene-causes-intellectual-disability-with-recognizable-syndromic-features
#9
Marie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Pierre F Ray, Caroline Bosson, Françoise Devillard, Daphné Lehalle, Valérie Malan, Jeanne Amiel, Maria Antonietta Mencarelli, Margherita Baldassarri, Alessandra Renieri, Jill Clayton-Smith, Gaëlle Vieville, Julien Thevenon, Florence Amblard, François Berger, Pierre-Simon Jouk, Charles Coutton
PURPOSE: To determine whether duplication of the ARID1A gene is responsible for a new recognizable syndrome. METHODS: We describe four patients with a 1p36.11 microduplication involving ARID1A as identified by array-comparative genomic hybridization . We performed comparative transcriptomic analysis of patient-derived fibroblasts using RNA sequencing and evaluated the impact of ARID1A duplication on the cell cycle using fluorescence-activated cell sorting. Functional relationships between differentially expressed genes were investigated with ingenuity pathway analysis (IPA)...
December 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#10
REVIEW
Maria Arvio, Ilkka Mononen
Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27905667/the-relationship-between-intelligence-quotient-and-aspects-of-everyday-functioning-and-participation-for-people-who-have-mild-and-borderline-intellectual-disabilities
#11
Patrik Arvidsson, Mats Granlund
BACKGROUND: This study explored the relationship between intelligence quotient (IQ) and aspects of everyday functioning/participation in individuals (age 16-40) who have a mild/borderline intellectual disability (IQ 55-85). METHOD: Correlations were examined between IQ and (i) self-rated (n = 72) ability, participation as performance (how often an activity is performed), important participation restriction (not/seldom performing an activity perceived as important) and general well-being and (ii) proxy-rated (n = 41) ability and participation as performance...
December 1, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/27904820/the-neurobiology-of-the-prader-willi-phenotype-of-fragile-x-syndrome
#12
REVIEW
Zukhrofi Muzar, Reymundo Lozano, Alexander Kolevzon, Randi J Hagerman
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism, caused by a CGG expansion to greater than 200 repeats in the promoter region of FMR1 on the bottom of the X chromosome. A subgroup of individuals with FXS experience hyperphagia, lack of satiation after meals and severe obesity, this subgroup is referred to have the Prader-Willi phenotype of FXS. Prader-Willi syndrome is one of the most common genetic severe obesity disorders known and it is caused by the lack of the paternal 15q11-13 region...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904153/genotype-and-phenotype-characterization-in-a-spanish-cohort-with-isovaleric-acidemia
#13
María L Couce, Luís Aldamiz-Echevarría, María A Bueno, Patricia Barros, Amaya Belanger-Quintana, Javier Blasco, María-Teresa García-Silva, Ana M Márquez-Armenteros, Isidro Vitoria, Inmaculada Vives, Rosa Navarrete, Ana Fernández-Marmiesse, Belén Pérez, Celia Pérez-Cerdá
Isovaleric acidemia (IVA) is a rare disorder of leucine metabolism. We carried out a multicenter study of IVA patients diagnosed by newborn screening (NBS) or symptoms clinics over a period of 28 years in Spain. Evaluated at diagnosis, data included age, detection method, levels of C5 and IVG, enzymatic studies, clinical presentation parameters and genotype in 16 patients. Follow-up data included C5 levels, intellectual quotient and correlation genotype-phenotype. IVA was detected by NBS in 8 patients (prevalence of 1/326 629)...
December 1, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27901303/diagnostic-masking-and-overshadowing-in-intellectual-disability-how-structured-evaluation-helps
#14
Harshini Manohar, Karthick Subramanian, Preeti Kandasamy, Venkatalakshmi Penchilaiya, Anandbabu Arun
PROBLEM: Comorbid psychiatric diagnoses tend to be underdiagnosed in patients with intellectual disability. Diagnosing anxiety disorders in such patients can pose challenges, in particular with regard to obsessive and compulsive disorder (OCD). METHODS: We present the case of an adolescent diagnosed with intellectual disability with poor expressive language skills who presented with nonspecific mood and behavioral symptoms, not improving with routine clinical evaluations and treatment...
November 30, 2016: Journal of Child and Adolescent Psychiatric Nursing
https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#15
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27900874/human-pluripotent-stem-cells-in-modeling-human-disorders-the-case-of-fragile-x-syndrome
#16
Dan Vershkov, Nissim Benvenisty
Human pluripotent stem cells (PSCs) generated from affected blastocysts or from patient-derived somatic cells are an emerging platform for disease modeling and drug discovery. Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, was one of the first disorders modeled in both embryonic stem cells and induced PCSs and can serve as an exemplary case for the utilization of human PSCs in the study of human diseases. Over the past decade, FXS-PSCs have been used to address the fundamental questions regarding the pathophysiology of FXS...
November 30, 2016: Regenerative Medicine
https://www.readbyqxmd.com/read/27900362/de-novo-phip-predicted-deleterious-variants-are-associated-with-developmental-delay-intellectual-disability-obesity-and-dysmorphic-features
#17
Emily Webster, Megan T Cho, Nora Alexander, Sonal Desai, Sakkubai Naidu, Mir Reza Bekheirnia, Andrea Lewis, Kyle Retterer, Jane Juusola, Wendy K Chung
Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has previously been associated with similar clinical features. Patients with microdeletions of 6q14.1, including PHIP, have a similar phenotype of developmental delay, intellectual disability, hypotonia, and obesity, suggesting that the phenotype of our patients is a result of loss-of-function mutations...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27899710/quantifying-and-exploring-camouflaging-in-men-and-women-with-autism
#18
Meng-Chuan Lai, Michael V Lombardo, Amber Nv Ruigrok, Bhismadev Chakrabarti, Bonnie Auyeung, Peter Szatmari, Francesca Happé, Simon Baron-Cohen
Autobiographical descriptions and clinician observations suggest that some individuals with autism, particularly females, 'camouflage' their social communication difficulties, which may require considerable cognitive effort and lead to increased stress, anxiety and depression. Using data from 60 age- and IQ-matched men and women with autism (without intellectual disability), we operationalized camouflaging in adults with autism for the first time as the quantitative discrepancy between the person's 'external' behavioural presentation in social-interpersonal contexts (measured by the Autism Diagnostic Observation Schedule) and the person's 'internal' status (dispositional traits measured by the Autism Spectrum Quotient and social cognitive capability measured by the 'Reading the Mind in the Eyes' Test)...
November 29, 2016: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/27899532/long-term-management-for-ventilator-assisted-children-in-hong-kong-2-decades-experience
#19
Shuk-Kuen Chau, Ada Wing-Yan Yung, So-Lun Lee
BACKGROUND: The population of children receiving long-term mechanical ventilation is growing worldwide, but only limited data exist in Asian regions. The objective of the study was to review the management of these children in Hong Kong over the past 2 decades. METHODS: This was a retrospective cohort study. Hospital records from subjects receiving mechanical ventilation for >3 months were retrieved. Demographic characteristics and medical information of subjects (≤21 y old) under the care of the ventilator program at the Duchess of Kent Children's Hospital between 1997 and 2015 were reviewed...
November 29, 2016: Respiratory Care
https://www.readbyqxmd.com/read/27899267/tracking-health-care-service-use-and-the-experiences-of-adults-with-autism-spectrum-disorder-without-intellectual-disability-a-longitudinal-study-of-service-rates-barriers-and-satisfaction
#20
Vanessa Vogan, Johanna K Lake, Ami Tint, Jonathan A Weiss, Yona Lunsky
BACKGROUND: Adults with Autism Spectrum Disorder (ASD) encounter many difficulties finding and accessing health care services. Despite this, few studies have considered the health service use patterns of adults with ASD without intellectual disability (ID). OBJECTIVES: The current study examines a diverse range of medical and mental health services and supports, as well as adults' personal experiences accessing and using these services, barriers to service use, and reported unmet service needs...
November 22, 2016: Disability and Health Journal
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