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https://www.readbyqxmd.com/read/27935434/unilateral-fatigue-affects-the-unipedal-postural-balance-in-individuals-with-intellectual-disability
#1
Rihab Borji, Haithem Rebai, Rym Baccouch, Rabeb Laatar, Sonia Sahli
This study aimed to explore the effect of local muscle fatigue on the unipedal stance in men with intellectual disability (ID). The Centre of pressure (CoP) excursions and the isometric maximal voluntary contraction (MVC) were measured before and after a fatiguing exercise. Higher baseline values of CoP excursions and lower MVC values were recorded in the ID group. After the fatiguing exercise, this group showed higher MVC decrease and higher percentage of increase of the mean CoP velocity. In conclusion, men with ID are more vulnerable to the disturbing effects of fatigue during the unipedal stance compared to men without ID...
December 9, 2016: Journal of Motor Behavior
https://www.readbyqxmd.com/read/27934799/subtelomeric-rearrangements-in-indian-children-with-idiopathic-intellectual-disability-developmental-delay-frequency-estimation-clinical-correlation-using-fluorescence-in-situ-hybridization-fish
#2
Shruthi Mohan, Teena Koshy, Perumal Vekatachalam, Sheela Nampoothiri, Dhanya Yesodharan, Kalpana Gowrishankar, Jeevan Kumar, Latha Ravichandran, Santhosh Joseph, Anupama Chandrasekaran, Solomon F D Paul
BACKGROUND & OBJECTIVES: Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. These subtelomeric rearrangements resulting in segmental aneusomy are reported to contribute to the aetiology of idiopathic intellectual disability/developmental delay (ID/DD). We undertook this study to estimate the frequency of subtelomeric rearrangements in children with ID/DD...
August 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27933693/heart-transplantation-in-children-with-intellectual-disability-an-analysis-of-the-unos-database
#3
Alexander N Goel, Amit Iyengar, Kenneth Schowengerdt, Andrew C Fiore, Charles B Huddleston
Heart transplantation in children with intellectual disability (ID) is an issue of debate due to the shortage of available donor organs. We sought to perform the first large-scale retrospective cohort study describing the prevalence and outcomes of heart transplantation in this population. The United Network of Organ Sharing database was queried from 2008 to 2015 for pediatric patients (age <19 years) receiving first, isolated heart transplant. Recipients were divided into three subgroups: definite ID, probable ID, and no ID...
December 9, 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27933677/the-effect-of-slow-paced-breathing-on-stress-management-in-adolescents-with-intellectual-disability
#4
S Laborde, M S Allen, N Göhring, F Dosseville
BACKGROUND: Intellectual disabilities often create a state of chronic stress for both the person concerned and their significant others (family, caregivers). The development of stress management methods is therefore important for the reduction of stress in persons with intellectual disability. The aim of this experiment was to investigate the effect of slow-paced breathing on stress symptoms experienced by adolescents with intellectual disabilities during a cognitive task under time pressure...
December 9, 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27933285/developmental-profile-and-diagnoses-in-children-presenting-with-motor-stereotypies
#5
Francesco Cardona, Francesca Valente, Daniela Miraglia, Caterina D'Ardia, Valentina Baglioni, Flavia Chiarotti
INTRODUCTION: Motor stereotypies represent a typical example of the difficulty in distinguishing non-clinical behaviors (physiological and transient) from symptoms or among different disorders ["primary stereotypies," associated with autistic spectrum disorder (ASD), intellectual disabilities, genetic syndromes, and sensory impairment]. The aim of this study was to obtain an accurate assessment on the relationship between stereotypies and neurodevelopmental disorders. METHODS: We studied 23 children (3 girls), aged 36-95 months, who requested a consultation due to the persistence or increased severity of motor stereotypies...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27933028/autism-in-action-reduced-bodily-connectedness-during-social-interactions
#6
C Lieke E Peper, Sija J van der Wal, Sander Begeer
Autism is a lifelong disorder, defined by deficits in social interactions and flexibility. To date, diagnostic markers for autism primarily include limitations in social behavior and cognition. However, such tests have often shown to be inadequate for individuals with autism who are either more cognitively able or intellectually disabled. The assessment of the social limitations of autism would benefit from new tests that capture the dynamics of social initiative and reciprocity in interaction processes, and that are not dependent on intellectual or verbal skills...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27932634/a-narrative-review-of-the-literature-about-people-with-intellectual-disability-who-identify-as-lesbian-gay-bisexual-transgender-intersex-or-questioning
#7
Nathan J Wilson, Jemima Macdonald, Brenda Hayman, Alexandra M Bright, Patsie Frawley, Gisselle Gallego
This narrative review of the research literature presents a summary about the key issues facing people with intellectual disability (ID) who identify as lesbian, gay, bisexual, transgender, intersex or questioning (LGBTIQ). The aim of this review was to consolidate research of the topic; to identify whether any pilot studies reporting social/sexual/educational interventions had been published; and to offer some perspective on the type of future research required to better inform policy, practice and theory that may lead to better outcomes for people with ID who identify as LGBTIQ...
December 8, 2016: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/27931082/pharmacotherapeutic-considerations-for-individuals-with-down-syndrome
#8
Erik J Hefti, Javier G Blanco
Down syndrome (DS, trisomy 21) is the most common survivable disorder due to aneuploidy. Individuals with DS may experience multiple comorbid health problems including congenital heart defects, endocrine abnormalities, skin and dental problems, seizure disorders, leukemia, dementia, and obesity. These associated conditions may necessitate pharmacotherapeutic management with various drugs. The complex pathobiology of DS may alter drug disposition and drug response in some individuals. For example, reports have documented increased rates of adverse drug reactions in patients with DS treated for leukemia and dementia...
December 8, 2016: Pharmacotherapy
https://www.readbyqxmd.com/read/27928161/novel-kcnb1-mutation-associated-with-non-syndromic-intellectual-disability
#9
Xénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, Stéphane Bézieau, Bertrand Isidor, Noriko Miyake
Potassium voltage-gated channel subfamily B member 1 (KCNB1) encodes Kv2.1 potassium channel of crucial role in hippocampal neuron excitation homeostasis. KCNB1 mutations are known to cause early-onset infantile epilepsy. To date, 10 KCNB1 mutations have been described in 11 patients. Using whole-exome sequencing, we identified a novel de novo missense (c.1132G>C, p.V378L) KCNB1 mutation in a patient with global developmental delay, intellectual disability, severe speech impairment, but no episode of epilepsy until the lastly examined age of 6 years old...
December 8, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27927242/sudden-death-due-to-paralysis-and-synaptic-and-behavioral-deficits-when-hip14-zdhhc17-is-deleted-in-adult-mice
#10
Shaun S Sanders, Matthew P Parsons, Katherine K N Mui, Amber L Southwell, Sonia Franciosi, Daphne Cheung, Sabine Waltl, Lynn A Raymond, Michael R Hayden
BACKGROUND: Palmitoylation, the addition of palmitate to proteins by palmitoyl acyltransferases (PATs), is an important regulator of synaptic protein localization and function. Many palmitoylated proteins and PATs have been implicated in neuropsychiatric diseases, including Huntington disease, schizophrenia, amyotrophic lateral sclerosis, Alzheimer disease, and X-linked intellectual disability. HIP14/DHHC17 is the most conserved PAT that palmitoylates many synaptic proteins. Hip14 hypomorphic mice have behavioral and synaptic deficits...
December 7, 2016: BMC Biology
https://www.readbyqxmd.com/read/27927236/chronic-infantile-neurological-cutaneous-and-articular-cinca-syndrome-a-review
#11
REVIEW
Martina Finetti, Alessia Omenetti, Silvia Federici, Roberta Caorsi, Marco Gattorno
INTRODUCTION: The Chronic Infantile Neurological Cutaneous and Articular (CINCA, or Neonatal-onset multisystem inflammatory disease NOMID) is a rare autoinflammatory disease identified in 1987 by Prieur et al., typically characterized by the triad of skin rash, arthropathy and central nervous system manifestations. It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS). CLINICAL DESCRIPTION AND ETIOLOGY: The syndrome is due to autosomal dominant gain of function mutations in NLRP3, which encodes a key component of the innate immunity that regulates the activation and secretion of interleukin (IL)-1β...
December 7, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27925356/development-and-testing-of-a-screener-for-intelligence-and-learning-disabilities-scil
#12
Henk Nijman, Hendrien Kaal, Lesley van Scheppingen, Xavier Moonen
BACKGROUND: Many clients in contact with social services and (mental) health care have mild to borderline intellectual disabilities (MBID). Yet, administering a full intelligence test may not be feasible. METHOD: In 318 adults and 305 juveniles, the scores on 14 questions that comprise the screener for intelligence and learning disabilities (SCIL) were analysed in relation to the IQs of the participants. RESULTS: The SCIL score had good predictive validity for detecting MBID in adults (AUC = 0...
December 7, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/27925204/rabs-membrane-dynamics-and-parkinson-s-disease
#13
REVIEW
Bor Luen Tang
Genes encoding cellular membrane trafficking components, namely RAB7L1 and RAB39B, are more recently recognized factors associated with Parkinson's disease (PD). Encoded by a gene within the PARK16 locus, RAB7L1 interacts with Leucine-rich repeat kinase 2 (LRRK2) to act in intracellular transport processes that are likely important in neuronal survival and function. LRRK2 also directly phosphorylates a number of other Rab proteins. On the other hand, nonsense and missense mutations of the X-chromosome localized RAB39B, were shown to underlie X-linked intellectual disability (ID) in male patients with early-onset PD...
December 7, 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/27925162/facial-dysmorphism-is-influenced-by-ethnic-background-of-the-patient-and-of-the-evaluator
#14
Aimé Lumaka, Nele Cosemans, Aimée Lulebo Mampasi, Gerrye Mubungu, Nono Mvuama, Toni Lubala, Sebastien Mbuyi-Musanzayi, Jeroen Breckpot, Maureen Holvoet, Thomy De Ravel, Griet Van Buggenhout, Hilde Peeters, Dian Donnai, Leon Mutesa, Alain Verloes, Prosper Lukusa Tshilobo, Koenraad Devriendt
The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (5 from Africa and 5 from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for "clearly dysmorphic", 0 for "clearly non dysmorphic" or 1 for "uncertain". The inter-rater agreement was determined using kappa coefficient...
December 7, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27924437/disability-life-writing-and-the-problem-of-dependency-in-the-autobiography-of-gaby-brimmer
#15
Rachel Adams
Independence was a core value of the movement for disability rights. People with disabilities did not have to be dependent, advocates claimed; they were robbed of autonomy by poverty, social prejudice, and architectural barriers. Recently, critics have noted that the emphasis on independence equates personhood with autonomy, reason, and self-awareness, thereby excluding those who are incapable of self-determination. The stigma of dependency is communicated to caregivers whose work is devalued and undercompensated...
December 7, 2016: Journal of Medical Humanities
https://www.readbyqxmd.com/read/27922856/health-profiles-and-associated-service-use-among-adults-with-hiv-and-intellectual-and-developmental-disabilities
#16
Yona Lunsky, Anna Durbin, Hilary K Brown, Symron Bansal, Marina Heifetz, Tony Antoniou
OBJECTIVE (S): Due to the commonly held notion that individuals with intellectual and developmental disabilities (IDD) have low risk of HIV acquisition, we compared the prevalence of HIV infection among people with and without IDD. We also examined health status and health service use among the HIV-infected group. DESIGN: Population-based cohort study using linked administrative health and social services databases. METHODS: We compared HIV prevalence between Ontario adults with IDD (n=64,008) and a 20% random sample of Ontario adults without IDD...
December 5, 2016: AIDS
https://www.readbyqxmd.com/read/27922243/late-diagnosed-phenylketonuria-in-an-eight-year-old-boy-with-dyslexia-and-attention-deficit-hyperactivity-disorder
#17
Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri
Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922231/evaluation-of-central-nervous-system-in-patients-with-glycogen-storage-disease-type-1a
#18
Yusuf Aydemir, Figen Gürakan, İnci Nur Saltık Temizel, Hülya Demir, Kader Karlı Oğuz, Dilek Yalnızoğlu, Meral Topçu, Hasan Özen, Aysel Yüce
We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and poor metabolic control and healthy children. Twenty-three patients with GSD type 1a were studied. Twelve patients were in poor metabolic control group and 11 patients in good metabolic control group...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#19
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920637/endocrinological-abnormalities-are-a-main-feature-of-17p13-1-microduplication-syndrome-a-new-case-and-literature-review
#20
Ilenia Maini, Ivan Ivanovski, Alessandro Iodice, Simonetta Rosato, Marzia Pollazzon, Manuela Mussini, Elga F Belligni, Charles Coutton, Maria Marinelli, Veronica Barbieri, Manuela Napoli, Rosario Pascarella, Chiara Sartori, Francesca Madia, Carlo Fusco, Fabrizia Franchi, Maria E Street, Livia Garavelli
To date, 5 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability was reported as the core feature, together with minor facial dysmorphisms and obesity, but a characteristic phenotype for 17p13.1 microduplication has not been delineated. Here, we describe a patient with a 1.56-Mb de novo duplication in 17p13.1, affected by mild intellectual disability, facial dysmorphisms, obesity, and diabetes. By comparing the different phenotypes of currently described cases, we delineated the main clinical features of 17p13...
November 2016: Molecular Syndromology
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