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https://www.readbyqxmd.com/read/28538323/the-effect-of-a-psychomotor-education-program-on-the-static-balance-of-children-with-intellectual-disability
#1
Eleni G Fotiadou, Konstantina H Neofotistou, Paraskevi F Giagazoglou, Vasilios K Tsimaras
Fotiadou, EG, Neofotistou, KH, Giagazoglou, PF, and Tsimaras, VK. The effect of a psychomotor education program on the static balance of children with intellectual disability. J Strength Cond Res 31(6): 1702-1708, 2017-Children with intellectual disability (ID) demonstrate lower balance ability which results in substantial delays in motor growth and limits their function level. Psychomotor education comprises a holistic movement approach, with the aim to improve all aspects of each child personality. The aim of this study was to assess the effect of a psychomotor education program on static balance of school-aged children with ID...
June 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28535411/the-effectiveness-of-the-computerized-visual-perceptual-training-program-on-individuals-with-down-syndrome-an-fmri-study
#2
Yi-Ting Wan, Ching-Sui Chiang, Sharon Chia-Ju Chen, Yee-Pay Wuang
This study investigated the effectiveness of the Computerized Visual Perception Training (CVPT) program on individuals with Down syndrome (DS, mean age=13.17±4.35years, age range: 6.54-20.75 years). All participants have mild intellectual disability classified by the standard IQ measures (mean=61.2, ranges from 55 to 68). Both the Test of Visual Perceptual Skill- Third Edition (TVPS-3) and functional magnetic resonance imaging (fMRI) were used to evaluate the training outcomes. Results of TVPS-3 and fMRI showed that DS group had visual perceptual deficits and abnormal neural networks related to visual organization...
May 20, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28533630/effects-of-hippotherapy-on-the-thickness-of-deep-abdominal-muscles-and-activity-of-daily-living-in-children-with-intellectual-disabilities
#3
JiHyun Lee, Chang-Kyo Yun
[Purpose] The purpose of this study is to investigate the effect of hippotherapy exercise on the thickness of deep abdominal muscles and daily activities of children with intellectual disabilities. [Subjects and Methods] Seven children with intellectual disabilities were treated with hippotherapy for 30 minutes twice a week for 6 weeks. The thickness of deep abdominal muscles and Functional Independence Measure (FIM) of the subjects were measured by ultrasonography before and after the experiment. [Results] There was no significant change in the thickness of the External Oblique and Internal Oblique muscles, but there was a statistically significant change in Transverse Adbominis thickness and FIM score after treatment compared to before treatment...
April 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28533195/de-novo-8p23-1-deletion-in-a-patient-with-absence-epilepsy
#4
Nihan Hande Akcakaya, Özlem Yalcin Capan, Herbert Schulz, Thomas Sander, Server Hande Caglayan, Zuhal Yapıcı
The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development...
May 22, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28533005/risk-factors-for-daytime-or-combined-incontinence-in-children-with-cerebral-palsy
#5
Bieke Samijn, Christine Van den Broeck, Ellen Deschepper, Catherine Renson, Piet Hoebeke, Frank Plasschaert, Johan Vande Walle, Erik Van Laecke
PURPOSE: To identify risk factors for daytime or combined urinary incontinence (UI) in children with cerebral palsy (CP). MATERIALS AND METHODS: A cross-sectional case-control study was conducted including children with CP with or without UI from the CP-Reference Centre at *** (blinded for review) and two associated special education schools. Factors were subdivided in three clusters, namely demographic and general medical data, CP classification and bladder and bowel dysfunction...
May 19, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28532510/gender-differences-in-psychiatric-diagnoses-in-older-people-with-intellectual-disability-a-register-study
#6
Anna Axmon, Magnus Sandberg, Gerd Ahlström
BACKGROUND: Gender differences regarding psychiatric ill-health are well known in the general population. However, not much research is done on people with intellectual disability, and especially not among older people with intellectual disability. METHODS: People with intellectual disability aged 55+ years in 2012 in Sweden were identified through a register containing information on those receiving support and service for this type of disability. The cohort comprised 3609 women and 4327 men with mean age 65 and 64 years, respectively...
May 22, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28528895/influence-of-perfluorocarbons-on-carbamazepine-and-benzodiazepine-for-a-neuro-lung-protective-strategy
#7
V Natchimuthu, Sabu Thomas, Murugan Ramalingam, S Ravi
Lennox-Gastaut syndrome (LGS) is commonly characterized by a triad of features including multiple seizure types, intellectual disability or regression. LGS type of seizures is epilepsy which is due to abnormal vibrations occurring in seizures. During the time of such abnormal vibrations, both the seizures and the lungs suffer a lack in oxygen content to a considerable extent. This results in prolonged vibrations and loses of nervous control. As a neuro-lung protective strategy, a novel attempt has been made to enrich both seizures and lungs with oxygen content through the support of Perfluorodecalin (an excellent oxygen carrier) C10F18 (PFD) and Perfluorohexane C6F14 (PFH) along with an enhancement in the antiepileptic activity by the two chosen antiepileptic drugs (AEDs) Carbamazepine (CBZ) and Benzodiazepine (BDZ)...
May 18, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28528477/human-cost-burden-of-exposure-to-endocrine-disrupting-chemicals-a-critical-review
#8
REVIEW
Gregory G Bond, Daniel R Dietrich
Recently published papers have alleged that exposures to endocrine disrupting chemicals (EDCs) are causing substantial disease burdens in the EU and US and are consequently costing society hundreds of billions of dollars annually. To date, these cost estimates have not undergone adequate scientific scrutiny, but nevertheless are being used aggressively in advocacy campaigns in an attempt to fundamentally change how chemicals are tested, evaluated and regulated. Consequently, we critically evaluated the underlying methodology and assumptions employed by the chief architects of the disease burden cost estimates...
May 20, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#9
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28527573/retinoid-related-orphan-receptor-%C3%AE-and-transcriptional-control-of-neuronal-differentiation
#10
Hong Liu, Michihiko Aramaki, Yulong Fu, Douglas Forrest
The ability to generate neuronal diversity is central to the function of the nervous system. Here we discuss the key neurodevelopmental roles of retinoid-related orphan receptor β (RORβ) encoded by the Rorb (Nr1f2) gene. Recent studies have reported loss of function of the human RORB gene in cases of familial epilepsy and intellectual disability. Principal sites of expression of the Rorb gene in model species include sensory organs, the spinal cord, and brain regions that process sensory and circadian information...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#11
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28524815/anchoring-high-concentrations-of-syngap-at-postsynaptic-densities-via-liquid-liquid-phase-separation
#12
Menglong Zeng, Guanhua Bai, Mingjie Zhang
SynGAP, encoded by SYNGAP1, is a Ras/Rap GTPase activator specifically expressed in the nervous systems. SynGAP is one of the most abundant proteins in the postsynaptic densities (PSDs) of excitatory synapses and acts as a critical synaptic activity brake by tuning down synaptic GTPase activities. Mutations of SYNGAP1 have been frequently linked to brain disorders including intellectual disability, autisms, and seizure. SynGAP has been shown to undergo fast dispersions from synapses in response to stimulations, a strategy that neurons use to control the specific activities of the enzyme within the tiny, semi-open compartments in dendritic spines...
May 19, 2017: Small GTPases
https://www.readbyqxmd.com/read/28523562/bioinformatics-tools-for-genome-wide-epigenetic-research
#13
Vladimir Espinosa Angarica, Antonio Del Sol
Epigenetics play a central role in the regulation of many important cellular processes, and dysregulations at the epigenetic level could be the source of serious pathologies, such as neurological disorders affecting brain development, neurodegeneration, and intellectual disability. Despite significant technological advances for epigenetic profiling, there is still a need for a systematic understanding of how epigenetics shapes cellular circuitry, and disease pathogenesis. The development of accurate computational approaches for analyzing complex epigenetic profiles is essential for disentangling the mechanisms underlying cellular development, and the intricate interaction networks determining and sensing chromatin modifications and DNA methylation to control gene expression...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523196/neoplasia-in-cri-du-chat-syndrome-from-italian-and-german-databases
#14
Andrea Guala, Marianna Spunton, Silvia Kalantari, Ingo Kennerknecht, Cesare Danesino
Cri du Chat syndrome (CdC) is a chromosomal abnormality (deletion of short arm of chromosome 5) associated with intellectual disability and typical anatomical abnormalities. Research up to now focuses on the management of the disease during childhood. The longer lifespan of these patients warrants deeper investigations of how and if aging could be affected by the syndrome. We decided to focus on the association of the disease with proliferative disorders. Data on proliferative disorders in a cohort of 321 patients from Italian and German Cri du Chat databases were collected...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28521556/maintenance-of-key-word-signing-in-adults-with-intellectual-disabilities-novel-signed-turns-facilitated-by-partners-consistent-input-and-sign-imitation
#15
Ellen Rombouts, Bea Maes, Inge Zink
The aim of the present study was to examine the relationship between the use of key word signing (KWS) by support staff and by adults with intellectual disabilities (clients) who had experience with using KWS. Specifically, we explored whether these clients were more inclined to use KWS when support staff used KWS or imitated signs. One-to-one conversations between 24 clients and their support staff were filmed and transcribed. Partner turns were coded for communication mode (spoken or signed) and KWS response type (i...
May 18, 2017: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/28515031/phenotypic-variability-in-a-family-with-acrodysostosis-type-2-caused-by-a-novel-pde4d-mutation-affecting-the-serine-target-of-pka-phosphorylation
#16
Julia Hoppmann, Julia Gesing, Caroline Silve, Chrystel Leroy, Astrid Bertsche, Franz Wolfgang Hirsch, Wieland Kiess, Roland Pfäffle, Volker Schuster
BACKGROUND: Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in PRKAR1A and acrodysostosis type 2 caused by mutations in PDE4D. Most cases are sporadic. OBJECTIVE: We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28515025/priority-setting-and-feasibility-of-health-information-exchange-for-primary-care-patients-with-intellectual-disabilities-a-modified-delphi-study
#17
Mathilde Mastebroek, Jenneken Naaldenberg, Hilde Tobi, Henny M J van Schrojenstein Lantman-de Valk, Antoine L M Lagro-Janssen, Geraline L Leusink
OBJECTIVE: Accurate health information exchange (HIE) is fragile in healthcare for patients with intellectual disabilities (ID), threatening the health outcomes for this patient group. In conjunction with a group of experts, we aimed to identify the principal actions and organisational factors facilitating HIE for primary care patients with ID and to assess their perceived feasibility in daily practice. METHODS: We conducted a two-round modified Delphi study with Dutch GPs (n=22), support workers (n=18) and ID physicians (n=20)...
April 15, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28514882/interventions-in-pain-management-for-persons-with-an-intellectual-disability
#18
Owen Doody, Maria E Bailey
Pain is a multidimensional and subjective experience, and an ideal pain management regime needs to be comprehensive, integrative and involve all relevant persons. Multimodal interventions may include pharmacological, physical, social, psychological and spiritual approaches in order to address pain management at a molecular, functional, behavioural, cognitive and affective levels. Pain management interventions will vary according to pain aetiology, patient characteristics and preferences. In keeping with best practice guidelines for effective pain management, a structured approach incorporating an effective assessment of pain by the healthcare professional, identification of the source and type of pain and accurate documentation is essential...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28514307/exome-sequencing-identifies-a-de-novo-mutation-of-ctnnb1-gene-in-a-patient-mainly-presented-with-retinal-detachment-lens-and-vitreous-opacities-microcephaly-and-developmental-delay-case-report-and-literature-review
#19
Niu Li, Yufei Xu, Guoqiang Li, Tingting Yu, Ru-En Yao, Xiumin Wang, Jian Wang
RATIONALE: The CTNNB1 (β-catenin) gene is well known for its crucial role in cell adhesion and the Wnt-signaling pathway. Previous studies have shown that gain-of-function mutations in the CTNNB1 gene contribute to the occurrence and development of a variety of carcinomas in humans. Recently, de novo, heterozygous, loss-of-function mutations of the CTNNB1 gene were found that partially explain intellectual disability in some patients. Other major clinical symptoms in these patients included microcephaly, abnormal facial features, motor delays, speech impairments, and deformities of the hands and feet...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28512037/understanding-behavior-under-nonverbal-transitive-inference-procedures-stimulus-control-topography-analyses
#20
Ann Galizio, Adam H Doughty, Dean C Williams, Kathryn J Saunders
Following training with verbal stimulus relations involving A is greater than B and B is greater than C, verbally-competent individuals reliably select A > C when asked "which is greater, A or C?" (i.e., verbal transitive inference). This result is easy to interpret. Nonhuman animals and humans with and without intellectual disabilities have been exposed to nonverbal transitive-inference procedures involving trained arbitrary stimulus relations. Following the training of A+B-, B+C-, C+D-, and D+E-, B reliably is selected over D (i...
May 13, 2017: Behavioural Processes
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