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treatment of intellectual disabled patient's

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https://www.readbyqxmd.com/read/28228177/psychiatric-diagnoses-in-older-people-with-intellectual-disability-in-comparison-with-the-general-population-a-register-study
#1
A Axmon, P Björne, L Nylander, G Ahlström
AIMS: To describe the occurrence of psychiatric diagnoses in a specialist care setting in older people with intellectual disability (ID) in relation to those found in the same age group in the general population. METHOD: A cohort of people with ID (n = 7936), aged 55 years or more in 2012, was identified, as was an age and sex-matched cohort from the general population (n = 7936). Information regarding psychiatric diagnoses during 2002-2012 was collected from the National Patient Register, which contains records from all inpatient care episodes and outpatient specialist visits in Sweden...
February 23, 2017: Epidemiology and Psychiatric Sciences
https://www.readbyqxmd.com/read/28218068/the-relationship-between-perceived-family-climate-and-glycemic-control-in-adolescents-with-type-1-diabetes-mellitus
#2
Şafak Eray, Halit Necmi Uçar, Fatma Çetinkaya, Erdal Eren, Pınar Vural
OBJECTIVE: Type 1 diabetes mellitus (T1DM) is a chronic disease, which ranks third in the children under 16 years old. Expressed emotion (EE) is a term that indicates a specific family climate including lack of emotional support (LES), irritability and emotional over-involvement. It is known that the family environment is highly important on glycemic control in diabetic adolescents. In this study the relationship between perceived EE and glycemic control in adolescents diagnosed with T1DM not accompanied by psychopathology will be investigated...
February 20, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28213671/exome-analysis-of-smith-magenis-like-syndrome-cohort-identifies-de-novo-likely-pathogenic-variants
#3
Seth I Berger, Carla Ciccone, Karen L Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J Introne, Andrea Gropman, Jan K Blancato, James C Mullikin, William A Gahl, Marjan Huizing, Ann C M Smith
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#4
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life...
February 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28190542/principles-of-effective-communication-with-patients-who-have-intellectual-disability-among-primary-care-physicians
#5
S Werner, S Yalon-Chamovitz, M Tenne Rinde, A D Heymann
OBJECTIVE: Examine physicians' implementation of effective communication principles with patients with intellectual disabilities (ID) and its predictors. METHODS: Focus groups helped construct a quantitative questionnaire. The questionnaire (completed by 440 physicians) examined utilization of effective communication principles, attitudes toward individuals with ID, subjective knowledge and number of patients with ID. RESULTS: Subjective knowledge of ID and more patients with ID increased utilization of effective communication principles...
February 2, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28188025/vagus-nerve-stimulation-in-children-a-focus-on-intellectual-disability
#6
REVIEW
Jo Sourbron, Sylvia Klinkenberg, Alfons Kessels, Helenius Jurgen Schelhaas, Lieven Lagae, Marian Majoie
INTRODUCTION: Vagus Nerve Stimulation (VNS) can be an efficacious add-on treatment in patients with drug-resistant epilepsy, who are not eligible for surgery. Evidence of VNS efficacy in children with intellectual disability (ID) is scarce. OBJECTIVES: The purpose of this study was to review all available VNS data in the pediatric population (≤18 years old) and focus on the subpopulation with ID since appropriate treatment of these children is often challenging and complex...
January 30, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28177063/prevalence-of-and-factors-associated-with-antipsychotic-polypharmacy-in-patients-with-serious-mental-illness-findings-from-a-cross-sectional-study-in-an-upper-middle-income-country
#7
Kerryn S Armstrong, Henk Temmingh
Objective: The aim of our study was to examine the prevalence of and factors associated with antipsychotic polypharmacy (APP) among patients with serious mental illness in the current South African health care context. Methods: We collected data on patient, illness, and treatment characteristics of patients discharged on one or more antipsychotic agents from January to June 2014. We analyzed the associations of APP with demographic and clinical variables using hierarchical multivariable logistic regression, and examined prescription patterns...
February 6, 2017: Revista Brasileira de Psiquiatria
https://www.readbyqxmd.com/read/28151977/a-blind-spot-screening-for-mild-intellectual-disability-and-borderline-intellectual-functioning-in-admitted-psychiatric-patients-prevalence-and-associations-with-coercive-measures
#8
Jeanet Grietje Nieuwenhuis, Eric Onno Noorthoorn, Henk Llewellyn Inge Nijman, Paul Naarding, Cornelis Lambert Mulder
BACKGROUND: Failure to detect psychiatric patients' intellectual disabilities may lead to inappropriate treatment and greater use of coercive measures. AIMS: In this prospective dynamic cohort study we screened for intellectual disabilities in patients admitted to psychiatric wards, and investigated the use of coercive measures with these patients. METHODS: We used the Screener for Intelligence and Learning disabilities (SCIL) to screen patients admitted to two acute psychiatric wards, and assessed patient characteristics and coercive measures during their stay and over the last 5 years...
2017: PloS One
https://www.readbyqxmd.com/read/28151490/efficacy-of-early-treatment-in-patients-with-cobalamin-c-disease-identified-by-newborn-screening-a-16-year-experience
#9
Rebecca C Ahrens-Nicklas, Ashley M Whitaker, Paige Kaplan, Sanmati Cuddapah, Jessica Burfield, Jennifer Blair, Ligia Brochi, Marc Yudkoff, Can Ficicioglu
PURPOSE: Despite implementation of newborn screening (NBS), outcomes in cobalamin C disease (cblC) remain poor. Therapy with hydroxycobalamin and betaine is widely used, but dietary recommendations vary among metabolic centers. We present a longitudinal analysis of the relationship between metabolic control, diet, and outcomes in a cohort of cblC patients. METHODS: We completed a retrospective analysis of 12 patients with cblC referred for abnormal NBS results and followed in our center between 1999 and 2015...
February 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28148286/fifteen-year-follow-up-of-italian-families-affected-by-arginine-glycine-amidinotransferase-deficiency
#10
Roberta Battini, M Grazia Alessandrì, Claudia Casalini, Manuela Casarano, Michela Tosetti, Giovanni Cioni
BACKGROUND: Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os. Serial examinations by magnetic resonance spectroscopy are required to evaluate Cr recovery in brain during treatment of high doses of Cr per os, which have been proved beneficial and effective in treating main clinical symptoms...
February 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28118512/prosthodontic-rehabilitation-for-a-patient-with-down-syndrome-a-clinical-report
#11
Nasser M Alqahtani, Hussain D Alsayed, John A Levon, David T Brown
Patients with Down syndrome can present with a variety of oral manifestations such as hypodontia, periodontal disease, premature tooth loss, reduced salivary flow, crowding of teeth in both arches, and decreased occlusal vertical dimension. The intellectual ability of people with Down syndrome varies widely. They present with a mild-to-moderate intellectual disability that restricts their ability to communicate and adjust to their environment, which can add complexity in the overall dental treatment. There is little information in the literature regarding the prosthodontic rehabilitation for patients with Down syndrome in combination with dental implant placement...
January 24, 2017: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
https://www.readbyqxmd.com/read/28057044/tuberous-sclerosis-registry-to-increase-disease-awareness-tosca-baseline-data-on-2093-patients
#12
John C Kingswood, Guillaume B d'Augères, Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Mirjana P Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28008256/blonanserin-treatment-in-patients-with-methamphetamine-induced-psychosis-comorbid-with-intellectual-disabilities
#13
Kosuke Okazaki, Manabu Makinodan, Kazuhiko Yamamuro, Tomoyo Takata, Toshifumi Kishimoto
OBJECTIVE: Methamphetamine (MA) use has recently been associated with high levels of psychiatric hospitalization and serious social dysfunction. MA use causes frequent psychotic symptoms, which can be treated with antipsychotics. However, people with intellectual disabilities (ID) are vulnerable to adverse effects resulting from treatment with antipsychotic medications. METHOD: We report two cases of MA-induced psychosis (MAP) in patients with ID who were treated with the antipsychotic blonanserin...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28007270/implantation-of-a-left-ventricular-assist-device-for-danon-cardiomyopathy
#14
Hiroto Kitahara, Kan Nawata, Osamu Kinoshita, Yoshifumi Itoda, Yukako Shintani, Masashi Fukayama, Minoru Ono
This is the first report of Danon cardiomyopathy managed with a left ventricular assist device (LVAD). Danon disease is an X-linked dominant inheritance disorder. Heart failure with Danon cardiomyopathy results in a poor prognosis, and heart transplantation is the treatment of choice. We present two cases of successful implantation of an LVAD for Danon cardiomyopathy. Patient 1 was in the dilatated phase of hypertrophic cardiomyopathy (HCM) with Danon cardiomyopathy, and she underwent LVAD implantation. She is waiting for transplantation...
January 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27995398/a-slc39a8-variant-causes-manganese-deficiency-and-glycosylation-and-mitochondrial-disorders
#15
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, David R Thorburn, Kristina Prelog, Melanie Bahlo, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou
SLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and cerebellar atrophy. Here we report a novel SLC39A8 variant in siblings with features of Leigh-like mitochondrial disease. Two sisters born to consanguineous Lebanese parents had profound developmental delay, dystonia, seizures and failure to thrive. Brain MRI of both siblings identified bilateral basal ganglia hyperintensities on T2-weighted imaging and cerebral atrophy...
December 19, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27988864/the-potential-relevance-of-docosahexaenoic-acid-and-eicosapentaenoic-acid-to-the-etiopathogenesis-of-childhood-neuropsychiatric-disorders
#16
REVIEW
Alessandra Tesei, Alessandro Crippa, Silvia Busti Ceccarelli, Maddalena Mauri, Massimo Molteni, Carlo Agostoni, Maria Nobile
Over the last 15 years, considerable interest has been given to the potential role of omega-3 polyunsaturated fatty acids (PUFAs) for understanding pathogenesis and treatment of neurodevelopmental and psychiatric disorders. This review aims to systematically investigate the scientific evidence supporting the hypothesis on the omega-3 PUFAs deficit as a risk factor shared by different pediatric neuropsychiatric disorders. Medline PubMed database was searched for studies examining blood docosahexaenoic acid (DHA) or eicosapentaenoic acid (EPA) status in children with neuropsychiatric disorders...
December 17, 2016: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/27978580/toilet-phobia-and-toilet-refusal-in-children
#17
Catharina Wagner, Justine Niemczyk, Alexander von Gontard
Objective: Toilet refusal syndrome (TRS) is a common disorder in toddlers, defined by use of diapers and refusal of toilet for defecation, while toilet phobia (TP) is a rare disorder in which toilets are avoided completely. Both disorders have not been described systematically in children, yet. Therefore, the aim was to present typical case vignettes illustrating different clinical presentations of TP and TRS. Methods: 5 typical cases were selected from all patients presented at a specialized outpatient clinic for incontinence at a tertiary university hospital during the last 3 years...
January 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/27973943/correlation-between-body-movements-and-salivary-secretion-during-sedation
#18
Yoko Sasaki, Seiichi Kato, Masaaki Miura, Haruhisa Fukayama
During dental sedation, control of the cough reflex is crucial for a safe and smooth procedure. Accumulated saliva is one of the predisposing factors for coughing. Body movements during dental sedation appear to enhance salivation. Therefore, the aim of this study was to investigate the difference in salivary secretion between the with-movements state and the without-movements state during sedation. Salivary weight for 1 min was measured 3 times in 27 patients with intellectual disability during dental treatment under deep sedation with midazolam and propofol...
2016: Anesthesia Progress
https://www.readbyqxmd.com/read/27927236/chronic-infantile-neurological-cutaneous-and-articular-cinca-syndrome-a-review
#19
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/27922856/health-profiles-and-associated-service-use-among-adults-with-hiv-and-intellectual-and-developmental-disabilities
#20
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
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