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https://www.readbyqxmd.com/read/28549523/-anesthetic-management-of-a-patient-with-15q-tetrasomy-for-dental-treatment
#1
Yuri Hase, Nobuhito Kemekura, Yukie Nitta, Toshiaki Fujisawa
BACKGROUND AND OBJECTIVES: 15q tetrasomy is a chromosomal abnormality that is a part of the heterogeneous group of extra structurally abnormal chromosomes. This syndrome is characterized by epilepsy, central hypotonia, developmental delay and intellectual disability, and autistic behavior. This is the first report of the anesthetic management of a patient with this syndrome. CASE REPORT: We administered general anesthesia for dental treatment in a patient with 15q tetrasomy...
May 23, 2017: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/28503911/community-football-teams-for-people-with-intellectual-disabilities-in-secure-settings-they-take-you-off-the-ward-it-was-like-a-nice-day-and-then-you-get-like-medals-at-the-end
#2
Nicholas Andrew Hudson, Jennifer Hella Mrozik, Rose White, Kristian Northend, Steve Moore, Katherine Lister, Kelly Rayner
BACKGROUND: People with learning disabilities (LD) are particularly vulnerable to mental health and behavioural difficulties, and it has been shown that regular exercise can improve psychosocial well-being as well as physical fitness. This research aims to explore the experiences of men with LD detained in secure settings who have engaged in community football training programmes and identify the benefits of such provision. METHOD: Interviews were conducted with eight patients in a forensic LD service, discussing their experiences of participating in community football...
May 15, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28501473/electrical-status-epilepticus-during-sleep-in-mowat-wilson-syndrome
#3
Paolo Bonanni, Susanna Negrin, Anna Volzone, Nicoletta Zanotta, Roberta Epifanio, Claudio Zucca, Elisa Osanni, Elisa Petacchi, Franco Fabbro
AIM: Mowat-Wilson Syndrome (MWS) is a genetic rare disease. Epilepsy is present in 70-75% of Patients and an age-dependent electroclinical pattern has been described. Up to date, there are studies with overnight sleep EEGs, probably because of the severe intellectual disability (ID) and hyperactivity of these Patients. Our purpose was to verify the hypothesis that MWS Patients might have electrical status epilepticus in slow wave sleep (ESES pattern). METHODS: A retrospective analysis of anamnestic and electrographic data was performed on 7 consecutive MWS Patients followed between 2007 and 2016...
May 10, 2017: Brain & Development
https://www.readbyqxmd.com/read/28492217/prevalence-of-intellectual-disabilities-and-epilepsy-in-different-forms-of-spastic-cerebral-palsy-in-adults
#4
Mladenka Vukojević, Tomislav Cvitković, Bruno Splavski, Zdenko Ostojić, Darinka Šumanović-Glamuzina, Josip Šimić
BACKGROUND: Spastic cerebral palsy may be interconnected with other neurodevelopmental disorders such as intellectual disabilities, and epilepsy. Brain synaptic plasticity and successful restorative rehabilitation may also contribute to diminish neurological deficit of patients having cerebral palsy. The aim of this study was to investigate the prevalence of intellectual disabilities and epilepsy in adult patients with different forms of spastic cerebral palsy and to find out correlation between the severity level of intellectual disabilities and epilepsy...
May 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/28474972/reaching-rural-ohio-with-intellectual-disability-psychiatry
#5
Julie P Gentile, Allison E Cowan, Beth Harper, Ryan Mast, Brian Merrill
Individuals with intellectual disability experience higher rates of mental illness when compared with the general population, and there is a lack of medical and mental health professionals in rural and under-served areas. With the increase in discharge of individuals from institutional settings back to their home communities into the least restrictive environments, there are more patients with complex needs being added to the schedules of physicians in the outpatient delivery care system. Patients with disabilities may not travel well or tolerate changes in routine so may not have access to psychiatry...
January 1, 2017: Journal of Telemedicine and Telecare
https://www.readbyqxmd.com/read/28465421/hyperactive-locomotion-in-a-drosophila-model-is-a-functional-readout-for-the-synaptic-abnormalities-underlying-fragile-x-syndrome
#6
Risa Kashima, Patrick L Redmond, Prajakta Ghatpande, Sougata Roy, Thomas B Kornberg, Thomas Hanke, Stefan Knapp, Giorgio Lagna, Akiko Hata
Fragile X syndrome (FXS) is the most common cause of heritable intellectual disability and autism and affects ~1 in 4000 males and 1 in 8000 females. The discovery of effective treatments for FXS has been hampered by the lack of effective animal models and phenotypic readouts for drug screening. FXS ensues from the epigenetic silencing or loss-of-function mutation of the fragile X mental retardation 1 (FMR1) gene, which encodes an RNA binding protein that associates with and represses the translation of target mRNAs...
May 2, 2017: Science Signaling
https://www.readbyqxmd.com/read/28458548/metabolic-screening-and-its-impact-in-children-with-nonsyndromic-intellectual-disability
#7
Yasser F Ali, Salah El-Morshedy, Riad M Elsayed, Amr M El-Sherbini, Saber Am El-Sayed, Nasser Ismail A Abdelrahman, Abdulbasit Abdulhalim Imam
OBJECTIVE: The objective of this study was to analyze the value of routine metabolic screening tests in children with an intellectual disability (ID) and its impact on improving their outcome and quality of life through appropriate intervention and treatment. PATIENTS AND METHODS: This cross-sectional study was conducted in the Pediatric Neurology Clinic, Al Khafji Joint Operations Hospital, Kingdom of Saudi Arabia. A total of 150 children with nonsyndromic ID (66% males) in the age range of 5-17 years were compared with 50 apparently healthy age- and sex-matched controls...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#8
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28435649/improvement-in-excoriation-skin-picking-with-use-of-risperidone-in-a-patient-with-developmental-disability
#9
Cody Roi, Alessandra Bazzano
Patients with Autism Spectrum Disorder present with a heterogeneous mix of features beyond the core symptoms of the disorder. These features can be emotional, cognitive or behavioral. Behavioral symptoms often include self-injury, and this may take the form of repetitive skin-picking. The prevalence of skin-picking disorder in Autism is unknown. Skin-picking may lead to significant medical and psychosocial complications. Recent data suggest that behavioral interventions may be more effective than medications at reducing skin-picking in neurotypical patients...
March 22, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28431841/cognitive-profile-and-disorders-affecting-higher-brain-functions-in-paediatric-patients-with-neurofibromatosis-type-1
#10
E Vaucheret Paz, A López Ballent, C Puga, M J García Basalo, F Baliarda, C Ekonen, R Ilari, G Agosta
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. OBJECTIVE: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients...
April 18, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28429375/patient-characteristics-and-outcomes-related-to-successful-outpatient-competency-restoration
#11
Amy J Mikolajewski, Gina M Manguno-Mire, Kelly L Coffman, Sarah M Deland, John W Thompson
Criminal defendants have a fundamental right to a fair and speedy trial. However, individuals found incompetent to stand trial are unable to move forward in the adjudication process and are often mired in protracted legal proceedings. If competency restoration is statutorily permissible and can be conducted in the outpatient setting, we propose that it should be considered based on burgeoning empirical data. We present data from an outpatient forensic clinic in which individuals are conditionally released to receive competency restoration in the community...
April 20, 2017: Behavioral Sciences & the Law
https://www.readbyqxmd.com/read/28428755/pharmacological-analysis-of-the-anti-epileptic-mechanisms-of-fenfluramine-in-scn1a-mutant-zebrafish
#12
Jo Sourbron, Ilse Smolders, Peter de Witte, Lieven Lagae
Dravet syndrome (DS) is a genetic encephalopathy that is characterized by severe seizures and prominent co-morbidities (e.g., physical, intellectual disabilities). More than 85% of the DS patients carry an SCN1A mutation (sodium channel, voltage gated, type I alpha subunit). Although numerous anti-epileptic drugs have entered the market since 1990, these drugs often fail to adequately control seizures in DS patients. Nonetheless, current clinical data shows significant seizure reduction in DS patients treated with the serotonergic (5-hydroxytryptamine, 5-HT) drug fenfluramine (FA)...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28424273/certainty-of-genuine-treatment-increases-drug-responses-among-intellectually-disabled-patients
#13
Karin B Jensen, Irving Kirsch, Moa Pontén, Annelie Rosén, Kathy Yang, Randy L Gollub, Vincent des Portes, Ted J Kaptchuk, Aurore Curie
OBJECTIVE: To determine the placebo component of treatment responses in patients with intellectual disability (ID). METHODS: A statistical meta-analysis comparing bias-corrected effect sizes (Hedges g) of drug responses in open-label vs placebo-controlled clinical trials was performed, as these trial types represent different certainty of receiving genuine treatment (100% vs 50%). Studies in fragile X, Down, Prader-Willi, and Williams syndrome published before June 2015 were considered...
April 19, 2017: Neurology
https://www.readbyqxmd.com/read/28423145/brief-behavioral-therapy-for-pediatric-anxiety-and-depression-in-primary-care-a-randomized-clinical-trial
#14
V Robin Weersing, David A Brent, Michelle S Rozenman, Araceli Gonzalez, Megan Jeffreys, John F Dickerson, Frances L Lynch, Giovanna Porta, Satish Iyengar
Importance: Anxiety and depression affect 30% of youth but are markedly undertreated compared with other mental disorders, especially in Hispanic populations. Objective: To examine whether a pediatrics-based behavioral intervention targeting anxiety and depression improves clinical outcome compared with referral to outpatient community mental health care. Design, Setting, and Participants: This 2-center randomized clinical trial with masked outcome assessment conducted between brief behavioral therapy (BBT) and assisted referral to care (ARC) studied 185 youths (aged 8...
April 19, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28420439/fragile-x-syndrome-a-review-of-clinical-and-molecular-diagnoses
#15
REVIEW
Claudia Ciaccio, Laura Fontana, Donatella Milani, Silvia Tabano, Monica Miozzo, Susanna Esposito
BACKGROUND: Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5' UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS...
April 19, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28417268/sexual-behavior-among-persons-with-cognitive-impairments
#16
REVIEW
Robyn P Thom, Albert J Grudzinskas, Fabian M Saleh
Although the cognitively impaired are frequently included in heterogeneous studies of problematic sexual behavior, the epidemiology, etiology, and approach to assessment and treatment of persons with dementia and intellectual disability are distinct from those of the general population. The incidence of inappropriate sexual behavior among the intellectually disabled is 15-33%; however, the nature tends to be more socially inappropriate than with violative intent. Limited sociosexual education is a large contributor, and better addressing this area offers a target for prevention and treatment...
May 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28414661/delayed-presentation-of-tuberour-sclerosis-complex-in-adult-women
#17
J Manalac, S Sadd, G Akoghlanian, T Benoit-Clark
INTRODUCTION: Tuberous sclerosis complex (TSC); is an autosomal dominant disorder characterized by the formation of hamartomatous lesions in multiple organs, with a birth incidence of around one in 10,000. Although it usually manifests itself in early life, we present a case of an adult woman who we diagnosed with TSC. CASE: A 27 year old woman presented to Emergency Department with worsening right flank pain and progressive dyspnea. Physical examination findings revealed Shagreen patches and multiple angiomyolipomas of the skin...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28413439/family-reintegration-of-homeless-in-maputo-and-matola-a-descriptive-study
#18
Lídia Gouveia, Honório Massanganhe, Flávio Mandlate, Dirceu Mabunda, Wilza Fumo, Ana Olga Mocumbi, Jair de Jesus Mari
BACKGROUND: Homelessness is a global and local social problem with underestimated prevalence. It has been shown to increase the risk of mental illness, raising concerns from mental health providers about the need for effective interventions targeting this population. OBJECTIVES: The aim of this paper is to describe the mental health status of the homeless people in two urban setting in a low-income country, through using standardised clinical and socio-demographic assessments as well assessing potential predictors of family integration versus non-family integration among a group of homeless individuals receiving psychiatric and psychosocial treatment...
2017: International Journal of Mental Health Systems
https://www.readbyqxmd.com/read/28406124/comparison-of-patients-with-and-without-intellectual-disability-under-general-anesthesia-a-retrospective-study
#19
T Sitilci, S Demirgan, C Akcay, N Kahraman, B G Koseoglu, M A Erdem, A B Cankaya
BACKGROUND AND PURPOSE: We analyzed and retrospectively compared patients with and without intellectual disability (ID) who underwent oral surgery under general anesthesia at Istanbul University, Faculty of Dentistry, Department of General Anesthesia, between October 2012 and June 2013 with regard to the following categories: Demographic features, American Society of Anesthesiologists (ASA) classification, Mallampati score, type of anesthetic drug used during the operation, type of intubation used, any difficulties with tracheal intubation, presence of systemic diseases, and recovery times after ending general anesthesia...
April 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28399099/-immunological-parameters-in-assessing-the-risk-of-decompensation-in-children-with-mental-retardation
#20
A A Shmakova, O P Shmakova, L V Androsova
AIM: To analyze the correlation between clinical and immunological parameters in children with mental retardation (MR) in order to explore the possibilities of using immunological data in assessing the severity of patient's condition and predicting a risk of decompensation, exacerbation of mental disorders comorbid to MR. MATERIAL AND METHODS: Seventy-three school children, aged 8-17 years, mean age 12,6±2,4 years, with MR of different genesis and 64 physically and mentally healthy children (control group) of the same age and sex were studied clinically and immunologically...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
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