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treatment of intellectual disabled patient's

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https://www.readbyqxmd.com/read/28346865/repetitive-transcranial-magnetic-stimulation-for-the-treatment-of-executive-function-deficits-in-autism-spectrum-disorder-clinical-trial-approach
#1
Stephanie H Ameis, Zafiris J Daskalakis, Daniel M Blumberger, Pushpal Desarkar, Irene Drmic, Donald J Mabbott, Meng-Chuan Lai, Paul E Croarkin, Peter Szatmari
OBJECTIVE: Executive function (EF) deficits in patients with autism spectrum disorder (ASD) are ubiquitous and understudied. Further, there are no effective, neuroscience-based treatments to address this impairing feature of ASD. Repetitive transcranial magnetic stimulation (rTMS) has demonstrated promise in addressing EF deficits in adult neuropsychiatric disorders. This article will outline the design of a novel randomized-controlled trial of bilateral, 20 Hz, rTMS applied to the dorsolateral prefrontal cortex (DLPFC) for treatment of EF deficits in ASD that is currently ongoing...
March 27, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28316753/a-resting-eeg-study-of-neocortical-hyperexcitability-and-altered-functional-connectivity-in-fragile-x-syndrome
#2
Jun Wang, Lauren E Ethridge, Matthew W Mosconi, Stormi P White, Devin K Binder, Ernest V Pedapati, Craig A Erickson, Matthew J Byerly, John A Sweeney
BACKGROUND: Cortical hyperexcitability due to abnormal fast-spiking inhibitory interneuron function has been documented in fmr1 KO mice, a mouse model of the fragile X syndrome which is the most common single gene cause of autism and intellectual disability. METHODS: We collected resting state dense-array electroencephalography data from 21 fragile X syndrome (FXS) patients and 21 age-matched healthy participants. RESULTS: FXS patients exhibited greater gamma frequency band power, which was correlated with social and sensory processing difficulties...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28281899/targeting-cps1-in-the-treatment-of-carbamoyl-phosphate-synthetase-1-cps1-deficiency-a-urea-cycle-disorder
#3
Carmen Diez-Fernandez, Johannes Häberle
Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia. Unless promptly treated, it can result in encephalopathy, coma and death, or intellectual disability in surviving patients. Over recent decades, therapies for CPS1D have barely improved leaving the management of these patients largely unchanged. Additionally, in many cases, current management (protein-restriction and supplementation with citrulline and/or arginine and ammonia scavengers) is insufficient for achieving metabolic stability, highlighting the importance of developing alternative therapeutic approaches...
April 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28272584/-groping-in-the-dark-pain-that-goes-unheard-1
#4
D J F Lambregts-van Marrewijk
Even with pharmalogical support, it is always very difficult to carry out dental check-ups on a deaf-blind man with profound intellectual disabilities. The man cannot communicate pain. Further diagnostic measures and treatment are impossible while using only oral sedation. When caries and calculus are diagnosed, the man is treated under general anaesthesia. In this treatment session severe periodontal disease and peri-apical problems are also diagnosed. The legal representative of the patient is unavailable for consultation on changes to the pre-prepared preliminary treatment plan during the treatment session...
March 2017: Nederlands Tijdschrift Voor Tandheelkunde
https://www.readbyqxmd.com/read/28255985/tyrosinemia-type-ii-mutation-update-eleven-novel-mutations-and-description-of-five-independent-subjects-with-a-novel-founder-mutation
#5
Luis Peña-Quintana, Gerd Scherer, María Lutgarda Curbelo-Estévez, Francisco Jiménez-Acosta, Britta Hartmann, Fátima La Roche, Silvia Meavilla-Olivas, Celia Pérez-Cerdá, Nuria García Segarra, Yves Giguère, Peter Huppke, Grant A Mitchell, Eberhard Mönch, Dorothy Trump, Christine Vianey-Saban, Elisabeth R Trimble, Isidro Vitoria-Miñana, Desiderio Reyes-Suárez, Teresa Ramírez-Lorenzo, Antonio Tugores
Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability. We report eleven novel genetic variants and have performed an extensive review of all cases described in the literature, identifying a total of 106 families, represented by 143 individuals, carrying a total of 36 genetic variants including 3 large deletions, 21 non-synonymous and 5 nonsense amino-acid changes, 5 frameshifts and 2 splice variants resulting in reduced function, truncated or absent TAT polypeptides...
March 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28254244/a-potential-life-threatening-reaction-to-glatiramer-acetate-in-rett-syndrome
#6
Andreea Nissenkorn, Mona Kidon, Bruria Ben-Zeev
BACKGROUND: Rett syndrome is an X-linked dominant neurodevelopmental disorder manifesting with severe intellectual disability in females caused by various mutations in the MECP2 gene. Brain-derived neurotrophic factor (BDNF) is one of the main proteins regulated by the MECP2 protein; its overexpression in the MeCP2 mouse model partially corrects the Rett phenotype. Pharmacologic manipulations that lead to increased BDNF in individuals with Rett syndrome are expected to have a positive effect on the disorder...
March 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28243465/a-systematic-review-and-synthesis-of-outcome-domains-for-use-within-forensic-services-for-people-with-intellectual-disabilities
#7
REVIEW
Catrin Morrissey, Peter E Langdon, Nicole Geach, Verity Chester, Michael Ferriter, William R Lindsay, Jane McCarthy, John Devapriam, Dawn-Marie Walker, Conor Duggan, Regi Alexander
BACKGROUND: There is limited empirical information on service-level outcome domains and indicators for the large number of people with intellectual disabilities being treated in forensic psychiatric hospitals. AIMS: This study identified and developed the domains that should be used to measure treatment outcomes for this population. METHOD: A systematic review of the literature highlighted 60 studies which met eligibility criteria; they were synthesised using content analysis...
January 2017: BJPsych Open
https://www.readbyqxmd.com/read/28228177/psychiatric-diagnoses-in-older-people-with-intellectual-disability-in-comparison-with-the-general-population-a-register-study
#8
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
#9
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
#10
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...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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