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Intellectual disability

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https://www.readbyqxmd.com/read/28350776/school-based-work-capacity-evaluation-in-young-people-with-intellectual-disabilities-2-case-reports
#1
Connie C Johnson, Deborah S Rose
PURPOSE: These case reports examine the application of a work capacity/work-hardening model to increase work capacity in young people with disabilities. KEY POINTS: Examination, evaluation, interventions, and outcomes are described for 2 teenagers with intellectual disability. This approach is novel in that it uses functional capacity evaluation concepts used in ergonomic/occupational health contexts and applies them to youth with disabilities in educational settings...
April 2017: Pediatric Physical Therapy
https://www.readbyqxmd.com/read/28346865/repetitive-transcranial-magnetic-stimulation-for-the-treatment-of-executive-function-deficits-in-autism-spectrum-disorder-clinical-trial-approach
#2
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/28346760/commentary-critical-considerations-for-studying-low-functioning-autism
#3
Bhismadev Chakrabarti
Jack and Pelphrey provide a systematic review of neuroimaging studies in understudied populations within the autistic spectrum, focussing specifically on those with minimal verbal ability, intellectual disability and developmental regression. Despite accounting for nearly a third of the autistic spectrum, the number of studies focussing on these populations is extremely low. This review highlights a critical need for further neuroimaging research on these populations, and provides practical suggestions for overcoming the challenges posed by it...
April 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28345801/zc4h2-deletions-can-cause-severe-phenotype-in-female-carriers
#4
Cristina Zanzottera, Donatella Milani, Enrico Alfei, Ambra Rizzo, Stefano D'Arrigo, Susanna Esposito, Chiara Pantaleoni
ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated with variable symptoms of central and peripheral nervous system involvement, such as spasticity, hyperreflexia, muscle weakness, and arthrogryposis. Female carriers are usually described as asymptomatic or only mildly affected. Here, we report on a girl carrying a de novo deletion of ZC4H2 detected by array-CGH analysis...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28345786/a-de-novo-nonsense-mutation-in-zbtb18-plus-a-de-novo-15q13-3-microdeletion-in-a-6-year-old-female
#5
Nadja Ehmke, Sylvio Karge, Johannes Buchmann, Dirk Korinth, Denise Horn, Olaf Reis, Frank Häßler
ZBTB18 has been proposed as candidate gene for microcephaly and abnormalities of the corpus callosum based on overlapping microdeletions of 1q43q44. More recently, de novo mutations of ZBTB18 have been identified in patients with syndromic and non-syndromic intellectual disability. Heterozygous microdeletions of 15q13.3 encompassing the candidate gene CHRNA7 are associated with developmental delay or intellectual disability with speech problems, hypotonia, and seizures. They are characterized by significant variability and reduced penetrance...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28345176/eye-movement-desensitisation-and-reprocessing-therapy-for-posttraumatic-stress-disorder-in-a-child-and-an-adolescent-with-mild-to-borderline-intellectual-disability-a-multiple-baseline-across-subjects-study
#6
Liesbeth Mevissen, Robert Didden, Hubert Korzilius, Ad de Jongh
BACKGROUND: This study explored the effectiveness of eye movement desensitisation and reprocessing (EMDR) therapy for post-traumatic stress disorder (PTSD) in persons with mild to borderline intellectual disability (MBID) using a multiple baseline across subjects design. METHODS: One child and one adolescent with MBID, who met diagnostic criteria for PTSD according to a PTSD clinical interview (i.e., ADIS-C PTSD section), adapted and validated for this target group, were offered four sessions of EMDR...
March 26, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#7
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28344515/burnout-among-nurses-working-in-social-welfare-centers-for-the-disabled
#8
Eleni Lahana, Konstantina Papadopoulou, Olga Roumeliotou, Andreas Tsounis, Pavlos Sarafis, Dimitris Niakas
BACKGROUND: In the healthcare sector, we often come across the burnout syndrome. It is an occupational syndrome which causes, physical and emotional exhaustion. More information is needed on the dangers of burnout and how often it occurs in healthcare. The purpose of this study was to investigate burnout and factors associated with the syndrome among nurses working with people that are mentally challenged. METHODS: A cross-sectional survey was conducted, among 180 nurses working in public health centers for the disabled in multiple regions of Greece...
2017: BMC Nursing
https://www.readbyqxmd.com/read/28344370/effectiveness-of-an-intervention-for-children-with-externalizing-behavior-and-mild-to-borderline-intellectual-disabilities-a-randomized-trial
#9
Hilde Schuiringa, Maroesjka van Nieuwenhuijzen, Bram Orobio de Castro, John E Lochman, Walter Matthys
This study evaluated the effectiveness of Standing Strong Together (SST), a combined group based parent and child intervention for externalizing behavior in 9-16 year-old children with mild to borderline intellectual disabilities (MBID). Children with externalizing behavior and MBID (IQ from 55 to 85) (N = 169) were cluster randomly assigned to SST combined with care as usual or to care as usual only. SST led to a significant benefit on teacher reported but not on parent reported externalizing behavior. SST had significant effects on parent rated positive parenting and the parent-child relationship...
2017: Cognitive Therapy and Research
https://www.readbyqxmd.com/read/28344334/the-kif1a-homolog-unc-104-is-important-for-spontaneous-release-postsynaptic-density-maturation-and-perisynaptic-scaffold-organization
#10
Yao V Zhang, Shabab B Hannan, Jeannine V Kern, Doychin T Stanchev, Baran Koç, Thomas R Jahn, Tobias M Rasse
The kinesin-3 family member KIF1A has been shown to be important for experience dependent neuroplasticity. In Drosophila, amorphic mutations in the KIF1A homolog unc-104 disrupt the formation of mature boutons. Disease associated KIF1A mutations have been associated with motor and sensory dysfunctions as well as non-syndromic intellectual disability in humans. A hypomorphic mutation in the forkhead-associated domain of Unc-104, unc-104(bris), impairs active zone maturation resulting in an increased fraction of post-synaptic glutamate receptor fields that lack the active zone scaffolding protein Bruchpilot...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28343847/global-developmental-delay-and-intellectual-disability-associated-with-a-de-novo-top2b-mutation
#11
Ching-Wan Lam, Wai-Lan Yeung, Chun-Yiu Law
BACKGROUND: More than 100 genes had been identified for autism spectrum disorder (ASD). With the advancement of whole-exome/genome sequencing (WES/WGS), disease-causing gene in ASD can be identified in a holistic and unbiased approach. The identification of new ASD genes can further explore the molecular basis of ASD. METHODS: We report a 15yo girl with developmental delay, intellectual disability, hypotonia, microcephaly and autistic feature. She first presented at 6months old with primitive response to noise...
March 23, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28343630/de-novo-truncating-mutations-in-the-last-and-penultimate-exons-of-ppm1d-cause-an-intellectual-disability-syndrome
#12
Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C Herkert, Elysa J Marco, Marjolein H Willemsen, Tjitske Kleefstra, Mark Hannibal, Joseph T Shieh, Sally Ann Lynch, Frances Flinter, David R FitzPatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury-Ecob, Raphael Bernier, Malin Kvarnung, E A Helena Magnusson, Marja W Wessels, Marjon A van Slegtenhorst, Kristin G Monaghan, Petra de Vries, Joris A Veltman, Christopher J Lord, Lisenka E L M Vissers, Bert B A de Vries
Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically analyzing de novo mutations in >7,000 individuals with neurodevelopmental disorders highlighted mutations in PPM1D as a possible cause of ID. PPM1D is a type 2C phosphatase that functions as a negative regulator of cellular stress-response pathways by mediating a feedback loop of p38-p53 signaling, thereby contributing to growth inhibition and suppression of stress-induced apoptosis...
March 18, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#13
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Weimin Bi, Alicia A Braxton, Jill A Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L Immken, Rebecca O Littlejohn, Elizabeth Roeder, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N James, Jennifer L Silhavy, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, John R Seavitt, Mary E Dickinson, M Cecilia Ljungberg, Sara Wells, Sara J Johnson, Lydia Teboul, Christine M Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D Heaney, Magdalena A Walkiewicz
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated with seizures and dysmorphic features...
March 21, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28341236/use-of-behaviour-change-techniques-in-lifestyle-change-interventions-for-people-with-intellectual-disabilities-a-systematic-review
#14
REVIEW
Mariël Willems, Thessa I M Hilgenkamp, Else Havik, Aly Waninge, Craig A Melville
BACKGROUND: People with intellectual disabilities (ID) experience more health problems and have different lifestyle change needs, compared with the general population. AIMS: To improve lifestyle change interventions for people with ID, this review examined how behaviour change techniques (BCTs) were applied in interventions aimed at physical activity, nutrition or physical activity and nutrition, and described their quality. METHODS AND PROCEDURES: After a broad search and detailed selection process, 45 studies were included in the review...
January 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28341232/lower-urinary-tract-symptoms-and-sexual-functions-after-endorectal-pull-through-for-hirschsprung-disease-controlled-long-term-outcomes
#15
Malla Neuvonen, Kristiina Kyrklund, Seppo Taskinen, Antti Koivusalo, Risto J Rintala, Mikko P Pakarinen
BACKGROUND/PURPOSE: To define the prevalence of lower urinary tract symptoms (LUTS) and outcomes for sexual function after endorectal pull-through (EPT) for Hirschsprung disease (HD) compared to controls. To date, similar controlled studies are lacking. METHODS: Patients aged ≥4years (n=123) operated on for HD at our center between 1987 and 2011 were invited to answer questionnaires on LUTS and sexual function (aged ≥16years). Patients with an intellectual disability and patients with a definitive endostomy were excluded...
March 6, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28339959/increased-evoked-potentials-and-behavioral-indices-in-response-to-pain-among-individuals-with-intellectual-disability
#16
Tali Benromano, Chaim G Pick, Yelena Granovsky, Ruth Defrin
Objective.:  Previous studies on the sensitivity and reactivity to pain of individuals with intellectual disability (ID) are inconsistent. The inconsistency may result from the reliance on self-reports and facial expressions of pain that are subject to internal and external biases. The aim was therefore to evaluate the reactivity to pain of individuals with ID by recording pain-evoked potentials (EPs), here for the first time, and testing their association with behavioral pain indices...
March 6, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28337834/retinal-dystrophy-in-two-boys-with-costello-syndrome-due-to-the-hras-p-gly13cys-mutation
#17
Mary Ella Pierpont, Mary Richards, W Keith Engel, Nancy J Mendelsohn, C Gail Summers
Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. Both had early symptoms of nystagmus, photophobia, and vision abnormalities...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28336156/pediatric-arterial-ischemic-stroke-epidemiology-risk-factors-and-management
#18
Ryan J Felling, Lisa R Sun, Emily C Maxwell, Neil Goldenberg, Timothy Bernard
Pediatric arterial ischemic stroke (AIS) is an uncommon but important cause of neurologic morbidity in neonates and children, with consequences including hemiparesis, intellectual disabilities, and epilepsy. The causes of pediatric AIS are unique to those typically associated with stroke in adults. Familiarity with the risk factors for AIS in children will help with efficient diagnosis, which is unfortunately frequently delayed. Here we review the epidemiology and risk factors for AIS in neonates and children...
March 7, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28334855/slc30a9-mutation-affecting-intracellular-zinc-homeostasis-causes-a-novel-cerebro-renal-syndrome
#19
Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir, Michael Volodarsky, Daniel Halperin, Shiran Barber-Zucker, Hanna Shalev, Ruth Schreiber, Libe Gradstein, Evgenia Gurevich, Raz Zarivach, Guy A Rutter, Daniel Landau, Ohad S Birk
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal. Four of the six affected individuals also had early-onset nephropathy with features of tubulo-interstitial nephritis, hypertension and tendency for hyperkalemia, though none had rapid deterioration of renal function. Genome wide linkage analysis identified an ∼18 Mb disease-associated locus on chromosome 4 (maximal logarithm of odds score 4...
February 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334793/compound-heterozygous-mutations-in-the-gene-pigp-are-associated-with-early-infantile-epileptic-encephalopathy
#20
Devon L Johnstone, Thi Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott, Philippe M Campeau
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability...
March 7, 2017: Human Molecular Genetics
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