keyword
MENU ▼
Read by QxMD icon Read
search

intellectual disabled

keyword
https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#1
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/28440950/the-need-to-know-the-information-needs-of-parents-of-infants-with-an-intellectual-disability-a-qualitative-study
#2
Tracy Douglas, Bernice Redley, Goetz Ottmann
AIM: To explore the information needs of parents of infants with an intellectual disability in the first year of life. BACKGROUND: Parents whose infant has an intellectual disability need access to information if they are to facilitate optimal care for their child. A lack of timely, accurate information provision by health professionals, particularly nurses and midwives, can increase parental stress and hinder access to the supports they and their infant require...
April 25, 2017: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#3
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28439889/prevalence-and-characteristics-of-autism-spectrum-disorders-in-children-with-cerebral-palsy
#4
Malika Delobel-Ayoub, Dana Klapouszczak, Marit Maria Elisabeth van Bakel, Karen Horridge, Solveig Sigurdardottir, Kate Himmelmann, Catherine Arnaud
AIM: To evaluate the prevalence of co-occurring autism spectrum disorders (ASDs) among children with cerebral palsy (CP), and to describe their characteristics. METHOD: The data of 1225 CP cases from four population-based registers (Iceland, Sweden, and two in France) and one population-based surveillance programme (North East England, UK) participating in the Surveillance of Cerebral Palsy in Europe Network (SCPE) were analysed. The ASD diagnoses were systematically recorded using category F84 of the International Classification of Diseases, 10th Revision...
April 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28439095/corrigendum-novel-kcnb1-mutation-associated-with-non-syndromic-intellectual-disability
#5
Xénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, Stéphane Bézieau, Bertrand Isidor, Noriko Miyake
No abstract text is available yet for this article.
April 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28438527/the-baf-brg1-brm-associated-factor-chromatin-remodeling-complex-exhibits-ethanol-sensitivity-in-fetal-neural-progenitor-cells-and-regulates-transcription-at-the-mir-9-2-encoding-gene-locus
#6
Sasha G Burrowes, Nihal A Salem, Alexander M Tseng, Sridevi Balaraman, Marisa R Pinson, Cadianna Garcia, Rajesh C Miranda
Fetal alcohol spectrum disorders are a leading cause of intellectual disability worldwide. Previous studies have shown that developmental ethanol exposure results in loss of microRNAs (miRNAs), including miR-9, and loss of these miRNAs, in turn, mediates some of ethanol's teratogenic effects in the developing brain. We previously found that ethanol increased methylation at the miR-9-2 encoding gene locus in mouse fetal neural stem cells (NSC), advancing a mechanism for epigenetic silencing of this locus and consequently, miR-9 loss in NSCs...
April 7, 2017: Alcohol
https://www.readbyqxmd.com/read/28436452/disrupted-neuronal-maturation-in-angelman-syndrome-derived-induced-pluripotent-stem-cells
#7
James J Fink, Tiwanna M Robinson, Noelle D Germain, Carissa L Sirois, Kaitlyn A Bolduc, Amanda J Ward, Frank Rigo, Stormy J Chamberlain, Eric S Levine
Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. Here, we explored the underlying pathophysiology using induced pluripotent stem cell-derived neurons from AS patients and unaffected controls. AS-derived neurons showed impaired maturation of resting membrane potential and action potential firing, decreased synaptic activity and reduced synaptic plasticity...
April 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28435649/improvement-in-excoriation-skin-picking-with-use-of-risperidone-in-a-patient-with-developmental-disability
#8
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/28434495/dysfunction-of-the-cerebral-glucose-transporter-slc45a1-in-individuals-with-intellectual-disability-and-epilepsy
#9
Myriam Srour, Noriaki Shimokawa, Fadi F Hamdan, Christina Nassif, Chantal Poulin, Lihadh Al Gazali, Jill A Rosenfeld, Noriyuki Koibuchi, Guy A Rouleau, Aisha Al Shamsi, Jacques L Michaud
Glucose transport across the blood brain barrier and into neural cells is critical for normal cerebral physiologic function. Dysfunction of the cerebral glucose transporter GLUT1 (encoded by SLC2A1) is known to result in epilepsy, intellectual disability (ID), and movement disorder. Using whole-exome sequencing, we identified rare homozygous missense variants (c.526C>T [p.Arg176Trp] and c.629C>T [p.Ala210Val]) in SLC45A1, encoding another cerebral glucose transporter, in two consanguineous multiplex families with moderate to severe ID, epilepsy, and variable neuropsychiatric features...
April 18, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28433791/employment-and-choice-making-for-adults-with-intellectual-disability-autism-and-down-syndrome
#10
Kelsey L Bush, Marc J Tassé
BACKGROUND: Adults with disabilities are employed at a significantly lower rate than adults without disabilities. Of adults with disabilities in the workforce, more individuals work in a facility setting rather than a community setting, despite efforts to improve community inclusion. Choice-making has been proposed as a predictive factor for employment for individuals with disabilities. AIMS: The purpose of this research was to examine the current state of employment for three groups of adults with intellectual disability (ID): individuals with autism spectrum disorder (ASD), individuals with Down syndrome (DS), and individuals with idiopathic ID...
April 20, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28433741/loss-of-the-neurodevelopmental-gene-zswim6-alters-striatal-morphology-and-motor-regulation
#11
David J Tischfield, Dave K Saraswat, Andrew Furash, Stephen C Fowler, Marc V Fuccillo, Stewart A Anderson
The zinc-finger SWIM domain-containing protein 6 (ZSWIM6) is a protein of unknown function that has been associated with schizophrenia and limited educational attainment by three independent genome-wide association studies. Additionally, a putatively causal point mutation in ZSWIM6 has been identified in several cases of acromelic frontonasal dysostosis with severe intellectual disability. Despite the growing number of studies implicating ZSWIM6 as an important regulator of brain development, its role in this process has never been examined...
April 19, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28433233/vagus-nerve-stimulation-in-children-a-focus-on-intellectual-disability
#12
EDITORIAL
Zvonka Rener-Primec
No abstract text is available yet for this article.
May 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28432728/expansion-of-the-clinical-phenotype-of-the-distal-10q26-3-deletion-syndrome-to-include-ataxia-and-hyperemia-of-the-hands-and-feet
#13
Melanie Lacaria, Myriam Srour, Jacques L Michaud, Asif Doja, Elka Miller, Jeremy Schwartzentruber, Claire Goldsmith, Jacek Majewski, Kym M Boycott
Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28432687/impact-of-caring-for-patients-with-severe-and-complex-disabilities-on-health-care-workers-quality-of-life-determinants-and-specificities
#14
Marie-Christine Rousseau, Karine Baumstarck, Tanguy Leroy, Cherazad Khaldi-Cherif, Catherine Brisse, Laurent Boyer, Noémie Resseguier, Claire Morando, Thierry Billette De Villemeur, Pascal Auquier
AIM: Individuals with severe and complex disabilities, defined by a combination of profound intellectual impairment and serious motor deficit resulting in extreme dependence, often remain in hospital or at residential facilities. The aim of this study was to identify the determinants of quality of life (QoL) of 238 health care workers (HCWs) caring for individuals with severe and complex disabilities. METHOD: We conducted a cross-sectional study. The recruitment of the HCWs was performed in five French centres specializing in patients with severe and complex disabilities...
April 22, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28432141/the-spacing-effect-for-structural-synaptic-plasticity-provides-specificity-and-precision-in-plastic-changes
#15
Martin A San, L Rela, B D Gelb, M R Pagani
In contrast to trials of training without intervals (massed training), training trials spaced over time (spaced training) induce a more persistent memory identified as long-term memory (LTM). This phenomenon known as "the spacing effect for memory" is poorly understood. LTM is supported by structural synaptic plasticity; however, how synapses integrate spaced stimuli remains elusive. Here, we analyzed events of structural synaptic plasticity at the single synapse level after distinct patterns of stimulation in motoneurons of Drosophila We found that the spacing effect is a phenomenon detected at synaptic level, which determine the specificity and the precision in structural synaptic plasticity...
April 21, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28432085/acute-myeloid-leukaemia-in-a-case-with-tatton-brown-rahman-syndrome-the-peculiar-dnmt3a-r882-mutation
#16
Iris H I M Hollink, Ans M W van den Ouweland, H Berna Beverloo, Susan T C J M Arentsen-Peters, C Michel Zwaan, Anja Wagner
BACKGROUND: Recently a novel syndromic form of overgrowth with intellectual disability and distinct facial features was identified caused by constitutional mutations in the epigenetic regulator DNA-methyltransferase 3A (DNMT3A), referred to as Tatton-Brown-Rahman syndrome (TBRS). Somatically acquired mutations in DNMT3A occur in haematological malignancies and are frequently present in acute myeloid leukaemia (AML) affecting in more than 50% the arginine residue at position 882 (R882)...
April 21, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28431988/time-trends-in-births-and-cesarean-deliveries-among-women-with-disabilities
#17
Willi Horner-Johnson, Frances M Biel, Blair G Darney, Aaron B Caughey
BACKGROUND: Although it is likely that childbearing among women with disabilities is increasing, no empirical data have been published on changes over time in the numbers of women with disabilities giving birth. Further, while it is known that women with disabilities are at increased risk of cesarean delivery, temporal trends in cesarean deliveries among women with disabilities have not been examined. OBJECTIVE: To assess time trends in births by any mode and in primary cesarean deliveries among women with physical, sensory, or intellectual/developmental disabilities...
April 6, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28431841/cognitive-profile-and-disorders-affecting-higher-brain-functions-in-paediatric-patients-with-neurofibromatosis-type-1
#18
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/28431488/core-vocabulary-of-young-children-with-down-syndrome
#19
Stijn R J M Deckers, Yvonne Van Zaalen, Hans Van Balkom, Ludo Verhoeven
The aim of this study was to develop a core vocabulary list for young children with intellectual disabilities between 2 and 7 years of age because data from this population are lacking in core vocabulary literature. Children with Down syndrome are considered one of the most valid reference groups for researching developmental patterns in children with intellectual disabilities; therefore, spontaneous language samples of 30 Dutch children with Down syndrome were collected during three different activities with multiple communication partners (free play with parents, lunch- or snack-time at home or at school, and speech therapy sessions)...
June 2017: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/28429375/patient-characteristics-and-outcomes-related-to-successful-outpatient-competency-restoration
#20
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
keyword
keyword
85027
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"