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https://www.readbyqxmd.com/read/28429375/patient-characteristics-and-outcomes-related-to-successful-outpatient-competency-restoration
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28397211/-application-of-chromosomal-microarray-analysis-for-the-diagnosis-of-children-with-intellectual-disability-developmental-delay-and-a-normal-karytype
#11
Ting Hu, Hongmei Zhu, Zhu Zhang, Jiamin Wang, Hongqian Liu, Xuemei Zhang, Haixia Zhang, Ze Du, Lingping Li, He Wang, Shanling Liu
OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype. METHODS: Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software. RESULTS: Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28379373/genetic-and-phenotypic-heterogeneity-suggest-therapeutic-implications-in-scn2a-related-disorders
#12
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, Maria J Miranda, Maja Hempel, Eva Brilstra, Nine Knoers, Nienke Verbeek, Marjan van Kempen, Kees P Braun, Grazia Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily Wong-Kisiel, Friedrich M Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G Thoene, Daniel H Arndt, Nicolas Deconinck, Thomas Schmitt-Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, Claudio Finetti, Reinhard Brückner, Joachim Pietz, Günther Golla, Dinesh Jillella, Karen M Linnet, Perrine Charles, Ute Moog, Eve Õiglane-Shlik, John F Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, G Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L Helbig, Katia Hardies, Hannah Stamberger, Peter de Jonghe, Sarah Weckhuysen, Johannes R Lemke, Ingeborg Krägeloh-Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S Møller
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p...
March 4, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28377889/long-term-cognitive-functioning-in-individuals-with-tyrosinemia-type-1-treated-with-nitisinone-and-protein-restricted-diet
#13
María Ignacia García, Alicia de la Parra, Carolina Arias, Miguel Arredondo, Juan Francisco Cabello
INTRODUCTION: Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway. Implementation of nitisinone (NTBC) treatment has dramatically improved survival rate of individuals with HT1, yet recent reports on cognitive impairment in treated patients exist. AIMS: Describe long-term neurocognitive outcome individuals with HT1 treated with nitisinone and protein restricted diet...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28377535/grin2b-encephalopathy-novel-findings-on-phenotype-variant-clustering-functional-consequences-and-treatment-aspects
#14
Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M Strom, Heather C Mefford, Candace T Myers, Alison M Muir, Amy LaCroix, Lynette Sadleir, Ingrid E Scheffer, Eva Brilstra, Mieke M van Haelst, Jasper J van der Smagt, Levinus A Bok, Rikke S Møller, Uffe B Jensen, John J Millichap, Anne T Berg, Ethan M Goldberg, Isabelle De Bie, Stephanie Fox, Philippe Major, Julie R Jones, Elaine H Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J Leventer, John A Lawson, Tony Roscioli, Floor E Jansen, Emmanuelle Ranza, Christian M Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen-Hann Tan, Mark A Tarnopolsky, Lauren I Brady, Markus Wolff, Lutz Dondit, Helio F Pedro, Sarah E Parisotto, Kelly L Jones, Anup D Patel, David N Franz, Rena Vanzo, Elysa Marco, Judith D Ranells, Nataliya Di Donato, William B Dobyns, Bodo Laube, Stephen F Traynelis, Johannes R Lemke
BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care...
April 4, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28370311/diagnostic-clusters-associated-with-an-early-onset-schizophrenia-diagnosis-among-children-and-adolescents
#15
Jeanette M Jerrell, Roger S McIntyre, Chelsea B Deroche
OBJECTIVE: Given the greater severity and chronicity of psychiatric disorders that first declare in individuals under the age of 18, early onset schizophrenia (EOS) and its association with co-occurring psychiatric conditions deserve further investigation. METHODS: Cluster and discriminant analyses were used to examine the heterogeneity of children and adolescents diagnosed with schizophrenia in 1 statewide system of care. A retrospective cohort design was employed, using South Carolina's (USA) Medicaid claims dataset covering outpatient and inpatient medical services between January, 1999 and December, 2013 to identify patients ≤17 years of age...
March 2017: Human Psychopharmacology
https://www.readbyqxmd.com/read/28351374/working-memory-training-in-children-with-neuropsychiatric-disorders-and-mild-to-borderline-intellectual-functioning-the-role-of-coaching-a-double-blind-randomized-controlled-trial
#16
Sammy Roording-Ragetlie, Helen Klip, Jan Buitelaar, Dorine Slaats-Willemse
BACKGROUND: Working memory training (WMT) has been shown to offer therapeutic benefits to both patients with Attention-Deficit Hyperactivity Disorder (ADHD) and patients with mild to borderline Intellectual Disabilities (MBID; 60 < IQ < 85). However, robust evidence for transfer effects and treatment benefits of WMT over placebo training are lacking. Owing to the nature of double-blind research designs in RCTs, children have received non-specific coaching not based on their actual training performance...
March 28, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28349640/developmental-trajectories-for-young-children-with-16p11-2-copy-number-variation
#17
Raphael Bernier, Caitlin M Hudac, Qixuan Chen, Chubing Zeng, Arianne Stevens Wallace, Jennifer Gerdts, Rachel Earl, Jessica Peterson, Anne Wolken, Alana Peters, Ellen Hanson, Robin P Goin-Kochel, Stephen Kanne, LeeAnne Green Snyder, Wendy K Chung
Copy number variation at 16p11.2 is associated with diverse phenotypes but little is known about the early developmental trajectories and emergence of the phenotype. This longitudinal study followed 56 children with the 16p11.2 BP4-BP5 deletion or duplication between the ages of 6 months and 8 years with diagnostic characterization and dimensional assessment across cognitive, adaptive, and behavioral domains. Linear mixed modeling revealed distinct developmental trajectories with deletions showing VIQ gains but declines in motor and social abilities while duplications showed VIQ gains and steady development across other domains...
March 27, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28346865/repetitive-transcranial-magnetic-stimulation-for-the-treatment-of-executive-function-deficits-in-autism-spectrum-disorder-clinical-trial-approach
#18
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
#19
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
#20
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
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