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Intellectual disabilities

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https://www.readbyqxmd.com/read/27914305/effectiveness-of-a-cross-circuit-exercise-training-program-in-improving-the-fitness-of-overweight-or-obese-adolescents-with-intellectual-disability-enrolled-in-special-education-schools
#1
Wen-Lan Wu, Yu-Fen Yang, I-Hua Chu, Hsiu-Tao Hsu, Feng-Hua Tsai, Jing-Min Liang
This study assessed the effects of a cross-circuit training intervention program on the body composition, cardiorespiratory fitness, balance, and muscular strength endurance of overweight or obese students with intellectual disability. A total of 43 students with intellectual disability (aged 13-19 years) were enrolled in this program; 28 overweight/obese students were assigned to either an obesity-control group (n=14) or obesity-exercise group (n=14), and those with normal weight were assigned to a normal weight group (n=15)...
November 30, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27914303/a-necessary-evil-residential-placement-of-people-with-intellectual-disability-among-the-palestinian-minority-in-israel
#2
Kareem Nasser, Dalia Sachs, Amalia Sa'ar
Among the Palestinian minority in Israel, residential placement of people with intellectual disabilities [ID] is relatively new and steadily increasing, but poorly studied. A qualitative design was used to explore the process of residential placement decision by 18 parents of people with ID through semi-structured interviews. Sampling was purposive and data was analyzed thematically. Four main themes emerged representing parents' perceptions and experiences along the placement decision-making process, together indicating an experience of deeply 'conflicted parenting': (a) initial resistance to placement and its perception as abandonment and parental failure; (b) attrition following cumulative difficulties and lack of assistance; (c) resignation and reframing of placement as a necessary evil; (d) relief mixed with guilt, pain, and ambivalence following placement...
November 30, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27914010/recruitment-by-the-repressor-freud-1-of-histone-deacetylase-brg1-chromatin-remodeling-complexes-to-strengthen-htr1a-gene-repression
#3
Tatiana Souslova, Kim Mirédin, Anne M Millar, Paul R Albert
Five-prime repressor element under dual repression binding protein-1 (Freud-1)/CC2D1A is genetically linked to intellectual disability and implicated in neuronal development. Freud-1 represses the serotonin-1A (5-HT1A) receptor gene HTR1A by histone deacetylase (HDAC)-dependent or HDAC-independent mechanisms in 5-HT1A-negative (e.g., HEK-293) or 5-HT1A-expressing cells (SK-N-SH), respectively. To identify the underlying mechanisms, Freud-1-associated proteins were affinity-purified from HEK-293 nuclear extracts and members of the Brg1/SMARCCA chromatin remodeling and Sin3A-HDAC corepressor complexes were identified...
December 2, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27913285/autosomal-recessive-spinocerebellar-ataxia-20-report-of-a-new-patient-and-review-of-literature
#4
Anju Shukla, Priyanka Upadhyai, Jhanvi Shah, K Neethukrishna, Stephanie Bielas, K M Girisha
Inherited ataxias are an extremely heterogeneous group of disorders. Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities. Mutations in the gene SNX14, which plays an important role in autophagy, have been found to cause SCAR20. The unique clinical findings of progressive coarsening of facial features makes the clinical phenotype recognizable among the various hereditary ataxias...
November 29, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27912106/a-multicenter-randomized-controlled-trial-for-bright-light-therapy-in-adults-with-intellectual-disabilities-and-depression-study-protocol-and-obstacle-management
#5
Pauline C M Hamers, Heleen M Evenhuis, Heidi Hermans
Due to the limited cognitive and communicative abilities of adults with intellectual disabilities (ID), current treatment options for depression are often limited to lifestyle changes and pharmacological treatment. Bright light therapy (BLT) is an effective intervention for both seasonal and non-seasonal depression in the general population. BLT is an inexpensive, easy to carry out intervention with minimal side effects. However, knowledge on its anti-depressant effect in adults with ID is lacking. Obstacles in realizing a controlled intervention study in this particular study population may have contributed to this lack...
November 29, 2016: Research in Developmental Disabilities
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
#6
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
#7
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/27906199/microduplication-of-the-arid1a-gene-causes-intellectual-disability-with-recognizable-syndromic-features
#8
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
#9
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
#10
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
#11
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/27901303/diagnostic-masking-and-overshadowing-in-intellectual-disability-how-structured-evaluation-helps
#12
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
#13
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
#14
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
#15
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
#16
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/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
#17
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
https://www.readbyqxmd.com/read/27898362/psychogenic-non-epileptic-seizure-in-patients-with-intellectual-disability-with-special-focus-on-choice-of-therapeutic-intervention
#18
Kousuke Kanemoto, Hiroko Goji, Yukari Tadokoro, Etsushi Kato, Tomohiro Oshima
PURPOSE: There have been a number of studies exploring treatments for psychogenic non-epileptic seizure (PNES) but largely neglecting the sizable subgroup of patients with intellectual disability (ID). In the present study, we attempted to demonstrate effects and preferred modes of therapeutic intervention in PNES patients with ID being treated at a Japanese municipal center with a short referral chain. METHODS: We examined 46 PNES patients with ID (ID group) and 106 PNES patients without ID (non-ID group) retrospectively in case charts...
November 14, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27898272/partial-hydatidiform-mole-in-a-phenylketonuria-patient-treated-with-sapropterin-dihydrochloride
#19
Yilmaz Yildiz, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Serap Sivri
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome. Sapropterin dihydrochloride (SD), an alternative or adjunct to dietary therapy in patients with tetrahydrobiopterin (BH4)-responsive PKU, has recently been used in several cases to treat PKU during pregnancy with satisfactory results...
November 29, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27897759/mobility-decline-in-people-with-intellectual-disabilities
#20
(no author information available yet)
People with intellectual disabilities are living longer and often experience declining mobility. Intellectual disability nurses (RNIDs) can help to ensure services are designed and equipped to meet the needs of this ageing population, writes Sophie Nelson in Learning Disability Practice.
November 16, 2016: Nursing Standard
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