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https://www.readbyqxmd.com/read/29338461/mtor-dysregulation-and-tuberous-sclerosis-related-epilepsy
#1
Paolo Curatolo, Romina Moavero, Jackelien van Scheppingen, Eleonora Aronica
The mammalian target of rapamycin (mTOR) pathway has emerged as a key player for proper neural network development, and it is involved in epileptogenesis triggered by both genetic or acquired factors. Areas covered. The robust mTOR signaling deregulation observed in a large spectrum of epileptogenic developmental pathologies, such as focal cortical dysplasias and tuberous sclerosis complex (TSC), has been linked to germline and somatic mutations in mTOR pathway regulatory genes, increasing the spectrum of "mTORopathies"...
January 17, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29336639/intellectual-educational-and-situation-based-social-outcome-in-adult-survivors-of-childhood-medulloblastoma
#2
Virginie Kieffer, Mathilde P Chevignard, Georges Dellatolas, Stephanie Puget, Frederic Dhermain, Jacques Grill, Dominique Valteau-Couanet, Christelle Dufour
PURPOSE: To investigate intellectual and situation-based social outcome and educational achievement in adult survivors of childhood medulloblastoma and analyse factors influencing outcome Methods: We collected demographic, medical and cognitive data, and social and educational outcome at a mean time since the end of treatments of 14.9 years in 58 adults, aged 19-35 years, consecutively treated in a single cancer center between 1989 and 2005. RESULTS: Ten survivors had severe intellectual disability, 12 were still studying, 23 had a regular employment and 13 were unemployed...
January 16, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29336506/influence-of-culture-change-on-the-perception-of-fear-and-anxiety-pathways-in-endodontics-a-pilot-proof-of-concept-study
#3
Ava Elizabeth Carter, Emad AlShwaimi, Mark Boschen, Geoffery Carter, Roy George
This study assessed the influence of cultural changes (known as acculturation) on pathways of fear and anxiety in Endodontics. A purposive sampling technique identified patients of Saudi Arabian descent living in Australia and Saudi Arabia. Only patients with root canal fillings (or treatment planned for endodontic treatment) were included. Patients with intellectual disabilities, surgical root therapy, and aged under 20 were excluded. Consenting patients attending the dental clinics of University of Griffith University, Australia and University of Dammam, Saudi Arabia completed the "My Endodontic Fear Questionnaire...
January 16, 2018: Australian Endodontic Journal: the Journal of the Australian Society of Endodontology Inc
https://www.readbyqxmd.com/read/29336297/add-on-perampanel-and-aggressive-behaviour-in-severe-drug-resistant-focal-epilepsies
#4
S Juhl, G Rubboli
This study aimed to investigate the incidence of aggressiveness in patients with severe drug-refractory focal epilepsy (DRE) who started perampanel (PER) as add-on treatment, and to identify possible predisposing factors. Data on 49 consecutive patients with severe DRE who initiated PER were retrospectively collected. Twelve of the 49 patients experienced aggressiveness as adverse event related to PER treatment, one third of them on low (2-4 mg/day) PER dosages. PER was discontinued in 10/12 patients because of aggressive behaviors...
October 2017: Functional Neurology
https://www.readbyqxmd.com/read/29314463/prevalence-and-patterns-of-anti-epileptic-medication-prescribing-in-the-treatment-of-epilepsy-in-older-adults-with-intellectual-disabilities
#5
M O'Dwyer, J Peklar, N Mulryan, P McCallion, M McCarron, M C Henman
BACKGROUND: The prevalence of epilepsy is higher in people with intellectual disability (ID) and increases with the degree of ID. Although life expectancy for people with ID is increasing, people with ID coexisting with epilepsy have a higher mortality rate, particularly those who had recent seizures. There have been few observational studies of the prevalence and patterns of anti-epileptic prescribing among older people with ID and epilepsy. The aim of this study was to investigate prevalence and patterns of anti-epileptic prescribing in the treatment of epilepsy in a representative population of older people with ID and epilepsy...
January 5, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29303800/prescribing-trends-of-atypical-antipsychotic-drugs-in-an-outpatient-unit-of-a-child-and-adolescent-clinic-in-turkey
#6
Çiğdem Yektaş, Ali Evren Tufan
OBJECTIVE: Use of antipsychotic agents in the management of various psychopathologies in Child and Adolescent Psychiatric practice is gradually increasing. This study aimed to evaluate the sociodemographic and clinical features of children and adolescents who applied to an outpatient clinic of child and adolescent psychiatry department in Turkey and were prescribed atypical antipsychotics. METHOD: Patients with prescription codes of ATC N05A (except N05AN lithium) were accepted to denote those with atypical antipsychotic treatment...
January 5, 2018: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/29296085/epilepsy-in-patients-with-autism-links-risks-and-treatment-challenges
#7
REVIEW
Frank Mc Besag
Autism is more common in people with epilepsy, approximately 20%, and epilepsy is more common in people with autism with reported rates of approximately 20%. However, these figures are likely to be affected by the current broader criteria for autism spectrum disorder (ASD), which have contributed to an increased prevalence of autism, with the result that the rate for ASD in epilepsy is likely to be higher and the figure for epilepsy in ASD is likely to be lower. Some evidence suggests that there are two peaks of epilepsy onset in autism, in infancy and adolescence...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29283439/homozygous-boricua-tbck-mutation-causes-neurodegeneration-and-aberrant-autophagy
#8
Xilma R Ortiz-González, Jesus A Tintos-Hernández, Kierstin Keller, Xueli Li, A Reghan Foley, Diana X Bharucha-Goebel, Sudha K Kessler, Sabrina W Yum, Peter B Crino, Miao He, Douglas C Wallace, Carsten G Bönnemann
OBJECTIVE: Autosomal recessive mutations in TBCK cause intellectual disability of variable severity. Although the physiologic function of TBCK remains unclear, loss-of-function mutations are associated with inhibition of mTORC1 signaling. As mTORC1 signaling is known to regulate autophagy, we hypothesized that TBCK-encephalopathy patients with a neurodegenerative course have defects in autophagic-lysosomal dysfunction. METHODS: Children (n=8) of Puerto Rican (Boricua) descent affected with homozygous TBCK p...
December 28, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29277240/-a-mentalization-based-perspective-on-childhood-autism-treatment
#9
M Thevenet, C Dondé, R Machabert, L Ancona, C Jost, N Georgieff
Mentalization is a process by which a subject makes sense of both his own mental representations and of those around him. Disturbances in the mentalization process are found in several psychiatric disorders, notably borderline personality disorders for which mentalization-based treatments (MBT) have been developed and evaluated. Children with Autism Spectrum Disorder (ASD) display a theory of mind impairments, which corresponds to disturbances in the mentalization process. Although no MBT protocol for patients with ASD has been described in the literature, such treatment appears promising to improve theory of mind and functional outcome of these children...
December 22, 2017: L'Encéphale
https://www.readbyqxmd.com/read/29274148/oral-findings-in-williams-beuren-syndrome
#10
S-B-P Ferreira, M-M Viana, N-G-F Maia, L-L Leao, R-A Machado, R-D Coletta, M-J-B de Aguiar, H Martelli-Junior
BACKGROUND: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. MATERIAL AND METHODS: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography...
December 23, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/29246092/improvement-of-self-injury-with-dopamine-and-serotonin-replacement-therapy-in-a-patient-with-a-hemizygous-pak3-mutation-a-new-therapeutic-strategy-for-neuropsychiatric-features-of-an-intellectual-disability-syndrome
#11
Gabriella A Horvath, Maja Tarailo-Graovac, Tanja Bartel, Simone Race, Margot I Van Allen, Ingrid Blydt-Hansen, Colin J Ross, Wyeth W Wasserman, Mary B Connolly, Clara D M van Karnebeek
PAK3-related intellectual disability is caused by mutations in the gene encoding the p21-activated kinase (PAK) protein. It is characterized by mild to moderate cognitive impairment, micro/normocephaly, and a neurobehavioral phenotype characterized by short attention span, anxiety, restlessness, aggression, and self-abusive behaviors. The authors report a patient with a novel PAK3 mutation, who presented with intellectual disability, severe automutilation, and epilepsy. His magnetic resonance imaging changes were most likely secondary to lacerations from parenchymal contusions...
January 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29230603/amp-activated-protein-kinase-activation-in-mediating-phenylalanine-induced-neurotoxicity-in-experimental-models-of-phenylketonuria
#12
Lihua Lu, Xiaoming Ben, Lingling Xiao, Min Peng, Yongjun Zhang
Phenylketonuria (PKU), one of the most prevalent autosomal recessive disorders of amino acid metabolism, is characterized by abnormal accumulation of phenylalanine, which can lead to intellectual disability. The main pathologic changes in the central nervous system of untreated phenylketonuric patients are reductions in the number of axons, dendrites, and synapses in the brain. Such alterations are thought to be mainly associated with the toxic effects caused by phenylalanine. However, the underlying molecular mechanisms have not been fully elucidated...
December 11, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29230289/accessory-anterolateral-talar-facet-impingement-with-tibialis-spastic-varus-foot
#13
Toshinori Kurashige
In recent years, some authors have reported accessory anterolateral talar facet impingement with flatfoot including peroneal spastic flatfoot. Conversely, to our knowledge, no case report has been published about accessory anterolateral talar facet impingement with tibialis spastic varus foot. We report the first case in a 22-year-old man with intellectual disability, bilateral cleft hands and type 1 diabetes mellitus. Since spraining his left ankle over a year earlier, he experienced left sinus tarsi pain while standing and walking...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29227296/lesch-nyhan-syndrome-and-its-variants-examining-the-behavioral-and-neurocognitive-phenotype
#14
James C Harris
PURPOSE OF REVIEW: Lesch-Nyhan Syndrome (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that result in hyperuricemia, intellectual disability, a dystonic movement disorder, and compulsive self-injury with self-mutilation. The aim of this review is to summarize recent research that documents the extended behavioral, neurologic, and neurocognitive phenotype in classic LNS, to describe milder variants of HGprt deficiency that do not self-injure and have less severe neurological and cognitive deficits, and to provide an update on treatment for associated psychiatric and behavioral disorders...
December 7, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/29226868/predictors-of-age-of-diagnosis-and-survival-of-alzheimer-s-disease-in-down-syndrome
#15
Amanda Sinai, Claire Mokrysz, Jane Bernal, Ingrid Bohnen, Simon Bonell, Ken Courtenay, Karen Dodd, Dina Gazizova, Angela Hassiotis, Richard Hillier, Judith McBrien, Jane McCarthy, Kamalika Mukherji, Asim Naeem, Natalia Perez-Achiaga, Khadija Rantell, Vijaya Sharma, David Thomas, Zuzana Walker, Sarah Whitham, Andre Strydom
BACKGROUND: People with Down syndrome (DS) are an ultra-high risk population for Alzheimer's disease (AD). Understanding the factors associated with age of onset and survival in this population could highlight factors associated with modulation of the amyloid cascade. OBJECTIVE: This study aimed to establish the typical age at diagnosis and survival associated with AD in DS and the risk factors associated with these. METHODS: Data was obtained from the Aging with Down Syndrome and Intellectual Disabilities (ADSID) research database, consisting of data extracted from clinical records of patients seen by Community Intellectual Disability Services (CIDS) in England...
December 6, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29209628/inhibitors-of-histone-deacetylases-are-weak-activators-of-the-fmr1-gene-in-fragile-x-syndrome-cell-lines
#16
Alexander A Dolskiy, Vladimir O Pustylnyak, Andrey A Yarushkin, Natalya A Lemskaya, Dmitry V Yudkin
Fragile X syndrome is the most common cause of inherited intellectual disability in humans. It is a result of CGG repeat expansion in the 5' untranslated region (5' UTR) of the FMR1 gene. This gene encodes the FMRP protein that is involved in neuronal development. Repeat expansion leads to heterochromatinization of the promoter, gene silencing, and the subsequent absence of FMRP. To date, there is no specific therapy for the syndrome. All treatments in clinic practice provide symptomatic therapy. The development of drug therapy for Fragile X syndrome treatment is connected with the search for inhibitors of enzymes that are responsible for heterochromatinization...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29206688/current-developments-in-the-genetics-of-rett-and-rett-like-syndrome
#17
Friederike Ehrhart, Nasim Bahram Sangani, Leopold M G Curfs
PURPOSE OF REVIEW: This article reviews the current molecular genetic studies, which investigate the genetic causes of Rett syndrome or Rett-like phenotypes without a classical MECP2 mutation. RECENT FINDINGS: As next generation sequencing becomes broadly available, especially whole exome sequencing is used in clinical diagnosis of the genetic causes of a wide spectrum of intellectual disability, autism, and encephalopathies. Patients who were diagnosed with Rett syndrome or Rett-like syndrome because of their phenotype but were negative for mutations in the MECP2, CDKL5 or FOXG1 genes were subjected to whole exome sequencing and the results of the last few years revealed yet 69 different genes...
December 4, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/29205472/progressive-deafness-dystonia-due-to-serac1-mutations-a-study-of-67-cases
#18
Saskia B Wortmann, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K Chung, Roberto Colombo, Niklas Darin, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grunewald, Tobias B Haack, Peter M van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A Mayr, Patricia McClean, Linda De Meirleir, Karin Naess, Lock H Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa Riley, Benjamin Roeben, Frank Rutsch, Rene Santer, Manuel Schiff, Martine Seders, Silvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W Taylor, Joanna Trubicka, Konstantinos Tsiakas, Ozlem Unal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Eva Morava, Ewa Pronicka, Ron A Wevers, Arjan P de Brouwer, Roeltje R Maas
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings. RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 years, median age 9 years)...
December 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29203796/aerobic-exercise-and-a-bdnf-mimetic-therapy-rescue-learning-and-memory-in-a-mouse-model-of-down-syndrome
#19
Martina Parrini, Diego Ghezzi, Gabriele Deidda, Lucian Medrihan, Enrico Castroflorio, Micol Alberti, Pietro Baldelli, Laura Cancedda, Andrea Contestabile
Down syndrome (DS) is caused by the triplication of human chromosome 21 and represents the most frequent genetic cause of intellectual disability. The trisomic Ts65Dn mouse model of DS shows synaptic deficits and reproduces the essential cognitive disabilities of the human syndrome. Aerobic exercise improved various neurophysiological dysfunctions in Ts65Dn mice, including hippocampal synaptic deficits, by promoting synaptogenesis and neurotransmission at glutamatergic terminals. Most importantly, the same intervention also prompted the recovery of hippocampal adult neurogenesis and synaptic plasticity and restored cognitive performance in trisomic mice...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29193472/intellectual-disability-is-a-risk-factor-for-delayed-emergence-from-total-intravenous-anaesthesia
#20
H Higuchi, S Maeda, M Ishii-Maruhama, Y Honda-Wakasugi, A Yabuki-Kawase, T Miyawaki
BACKGROUND: Previous studies have suggested that ID influences the depth of general anaesthesia (GA) and delays emergence from GA. In this retrospective cohort study, we investigated whether ID affects the time taken to emerge from GA. METHODS: We selected dental patients who underwent GA at the Department of Dental Anaesthesiology, Okayama University Hospital, using predefined inclusion and exclusion criteria, before dividing the selected participants into ID and non-ID (control) groups...
November 29, 2017: Journal of Intellectual Disability Research: JIDR
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