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https://www.readbyqxmd.com/read/28222344/caring-for-children-with-intellectual-disabilities-part-2-detailed-analyses-of-factors-involved-in-respite-workers-reported-assessment-and-care-decisions
#1
Lara M Genik, C Meghan McMurtry, Lynn M Breau
: Respite workers (RW) commonly care for children with intellectual disabilities (ID), and pain is common for these children. Little is known about factors which inform RW pain assessment and management-related decisions. OBJECTIVES: To describe/determine the following in response to a series of pain-related scenarios (e.g., headache, falling): (1) factors considered important by RW when assessing children with ID's pain; (2) whether children's verbal ability impacts pain assessment factors considered; (3) RW assessment and management approach...
February 17, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#2
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28220357/are-generalized-anxiety-and-depression-symptoms-associated-with-social-competence-in-children-with-and-without-autism-spectrum-disorder
#3
Krista Haley Smith Johnston, Grace Iarocci
Generalized anxiety and depression symptoms may be associated with poorer social outcomes among children with Autism Spectrum Disorder (ASD) without intellectual disability. The goal of this study was to examine whether generalized anxiety and depression symptoms were associated with social competence after accounting for IQ, age, and gender in typically developing children and in children with ASD. Results indicated that for the TD group, generalized anxiety and depression accounted for 38% of the variance in social competence and for children with ASD, they accounted for 29% of the variance in social competence...
February 20, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28218875/balance-and-coordination-capacities-of-male-children-and-adolescents-with-intellectual-disability
#4
Ken Pitetti, Ruth Ann Miller, Michael Loovis
Children and adolescents with intellectual disability (ID) exhibit a mixture of cognitive, motor, and psychosocial limitation. Identifying specific inadequacies in motor proficiency in youth with ID would improve therapeutic management to enhance functional capacity and health-related physical activity. The purpose of this study was to initiate descriptive data collection of gross motor skills of youth with ID and compare those skills with competency norms. The Bruininks-Oseretsky Test of Motor Proficiency (BOT-2) was used to measure 6 items for balance (BAL), 5 items for upper limb coordination (ULC), and 6 items for bilateral coordination (BLC) of 123 males (ages 8-18) with ID but without Down syndrome...
January 2017: Adapted Physical Activity Quarterly: APAQ
https://www.readbyqxmd.com/read/28218493/improving-vision-awareness-in-autism-services-evaluation-of-a-dedicated-education-programme-for-support-practitioners
#5
Joseph J Long, Maggie Butchart, Michael Brown, Janice Bain, Anne McMillan, Thanos Karatzias
BACKGROUND: The research reported here sought to evaluate whether a dedicated education programme in vision awareness improved the knowledge and skills of autism support practitioners in identifying visual impairment in autistic people with intellectual disabilities and providing better support to those individuals identified as visually impaired. METHODS: Researchers undertook a mixed methods evaluation. A survey questionnaire was devised and administered before and after training and focus groups were undertaken in order to gain qualitative data relating how practitioners implemented their learning in practice...
February 20, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28218068/the-relationship-between-perceived-family-climate-and-glycemic-control-in-adolescents-with-type-1-diabetes-mellitus
#6
Şafak Eray, Halit Necmi Uçar, Fatma Çetinkaya, Erdal Eren, Pınar Vural
OBJECTIVE: Type 1 diabetes mellitus (T1DM) is a chronic disease, which ranks third in the children under 16 years old. Expressed emotion (EE) is a term that indicates a specific family climate including lack of emotional support (LES), irritability and emotional over-involvement. It is known that the family environment is highly important on glycemic control in diabetic adolescents. In this study the relationship between perceived EE and glycemic control in adolescents diagnosed with T1DM not accompanied by psychopathology will be investigated...
February 20, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28217086/increased-sparsity-of-hippocampal-ca1-neuronal-ensembles-in-a-mouse-model-of-down-syndrome-assayed-by-arc-expression
#7
Constance L Smith-Hicks, Peiling Cai, Alena V Savonenko, Roger H Reeves, Paul F Worley
Down syndrome (DS) is the leading chromosomal cause of intellectual disability, yet the neural substrates of learning and memory deficits remain poorly understood. Here, we interrogate neural networks linked to learning and memory in a well-characterized model of DS, the Ts65Dn mouse. We report that Ts65Dn mice exhibit exploratory behavior that is not different from littermate wild-type (WT) controls yet behavioral activation of Arc mRNA transcription in pyramidal neurons of the CA1 region of the hippocampus is altered in Ts65Dn mice...
2017: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/28215627/caregivers-effect-on-weight-management-in-adults-with-intellectual-and-developmental-disabilities
#8
L T Ptomey, C A Gibson, J Lee, D K Sullivan, R A Washburn, A M Gorczyca, J E Donnelly
INTRODUCTION: Caregivers of adults with IDD often play a large role in the ability of adults with IDD to lose weight. OBJECTIVE: The purpose of this study was to determine to examine the effects of the caregivers' perceived burdens and self-efficacy and their relationship to an individual (family member or paid staff) on weight changes across a weight management intervention for adults with IDD. METHODS: Overweight/obese adults with mild to moderate IDD, along with assigned caregivers who served as their study partner, were randomized to an 18-month weight management intervention...
February 12, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28215510/short-term-treatment-with-flumazenil-restores-long-term-object-memory-in-a-mouse-model-of-down-syndrome
#9
Damien Colas, Bayarsaikhan Chuluun, Craig C Garner, H Craig Heller
Down syndrome (DS) is a common genetic cause of intellectual disability yet no pro-cognitive drug therapies are approved for human use. Mechanistic studies in a mouse model of DS (Ts65Dn mice) demonstrate that impaired cognitive function is due to excessive neuronal inhibitory tone. These deficits are normalized by chronic, short-term low doses of GABAA receptor (GABAAR) antagonists in adult animals, but none of the compounds investigated are approved for human use. We explored the therapeutic potential of flumazenil (FLUM), a GABAAR antagonist working at the benzodiazepine binding site that has FDA approval...
February 12, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/28215110/patients-family-members-and-professional-carers-experiences-of-psychoeducational-multifamily-groups-for-participants-with-intellectual-disabilities-and-mental-illness
#10
Trine Lise Bakken, Inger-Lise Sundby, Gunn Helene Klevmoen
There is a dearth of articles addressing psychoeducational multifamily groups for adults with intellectual disabilities. The objective of this study is to investigate the participants' experiences of being part of a group like this. The group intervention had been slightly modified due to the participants' intellectual disabilities. Four patients, their close relatives, and community professional caregivers were interviewed using a semi-structured scheme. The four patients had participated in different groups...
February 2017: Issues in Mental Health Nursing
https://www.readbyqxmd.com/read/28214250/colorectal-cancer-screening-adherence-in-selected-disabilities-over-10-years
#11
Chelsea B Deroche, Suzanne W McDermott, Joshua R Mann, James W Hardin
INTRODUCTION: Colorectal cancer (CRC) is the second leading cause of cancer mortality in the U.S.; however, if the population aged 50 years or older received routine screening, approximately 60% of these deaths could be eliminated. This study investigates whether adults, aged 50-75 years, with one of three disabilities (blind/low vision [BLV], intellectual disability [ID], spinal cord injury [SCI]) receive CRC screening at rates equivalent to adults without the three disabilities, by accounting for combinations of recommended CRC screenings during a 10-year period (colonoscopy, sigmoidoscopy, fecal occult blood test)...
February 14, 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28213671/exome-analysis-of-smith-magenis-like-syndrome-cohort-identifies-de-novo-likely-pathogenic-variants
#12
Seth I Berger, Carla Ciccone, Karen L Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J Introne, Andrea Gropman, Jan K Blancato, James C Mullikin, William A Gahl, Marjan Huizing, Ann C M Smith
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28211987/10-year-old-female-with-intragenic-kansl1-mutation-no-kansl1-related-intellectual-disability-and-preserved-verbal-intelligence
#13
Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, Elaine H Zackai
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#14
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211977/1q21-3-deletion-involving-gatad2b-an-emerging-recurrent-microdeletion-syndrome
#15
Thipwimol Tim-Aroon, Natini Jinawath, Weerin Thammachote, Praweena Sinpitak, Anchalee Limrungsikul, Chaiyos Khongkhatithum, Duangrurdee Wattanasirichaigoon
GATAD2B gene is involved in chromatin modification and transcription activity. Loss-of-function mutations of GATAD2B have recently been defined to cause a recognizable syndrome with intellectual disability (ID). Human TPM3 gene encoding thin filament protein is associated with myopathies. Both genes are located on chromosome 1q21.3. We herein report an infant with feeding difficulty, developmental delay, hypotonia, and dysmorphic features including small palpebral fissures, telecanthus, sparse hair and eyebrow, cup-shaped ears, and clinodactyly...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211972/tsc2-c-1864c-t-variant-associated-with-mild-cases-of-tuberous-sclerosis-complex
#16
Laura S Farach, William T Gibson, Steven P Sparagana, Mark Nellist, Connie T R M Stumpel, Marja Hietala, Elliott Friedman, Deborah A Pearson, Susan P Creighton, Annemiek Wagemans, Reveel Segel, Efrat Ben-Shalom, Kit Sing Au, Hope Northrup
Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder with variable expressivity associated with hamartomatous tumors, abnormalities of the skin, and neurologic problems including seizures, intellectual disability, and autism. TSC is caused by pathogenic variants in either TSC1 or TSC2. In general, TSC2 pathogenic variants are associated with a more severe phenotype than TSC1 pathogenic variants. Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211971/atypical-angelman-syndrome-due-to-a-mosaic-imprinting-defect-case-reports-and-review-of-the-literature
#17
Anna Le Fevre, Jasmin Beygo, Cheryl Silveira, Benjamin Kamien, Jill Clayton-Smith, Alison Colley, Karin Buiting, Tracy Dudding-Byth
Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy demeanor. The four known etiological mechanisms; deletions, uniparental disomy, imprinting defects, and UBE3A mutation all affect expression of the UBE3A gene at 15q11-q13. An atypical phenotype is seen in individuals who are mosaic for a chromosome 15q11-q13 imprinting defect on the maternal allele. These patients present with a milder phenotype, often with hyperphagia and obesity or non-specific intellectual disability...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211887/germline-mutations-predisposing-to-diffuse-large-b-cell-lymphoma
#18
REVIEW
O C Leeksma, N F de Miranda, H Veelken
Genetic studies of diffuse large B-cell lymphomas (DLBCLs) in humans have revealed numerous targets of somatic mutations and an increasing number of potentially relevant germline alterations. The latter often affect genes involved in DNA repair and/or immune function. In general, defects in these genes also predispose to other conditions. Knowledge of these mutations can lead to disease-preventing measures in the patient and relatives thereof. Conceivably, these germline mutations will be taken into account in future therapy of the lymphoma...
February 17, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28211645/disability-and-inclusive-education-in-an-italian-region-analysis-of-the-data-for-the-school-year-2012-2013
#19
Evamaria Lanzarini, Antonia Parmeggiani
BACKGROUND: In Italy, pupils with disabilities enroll in mainstream schools and attend the ordinary classes at all educational levels. For the past twelve years, the Region Emilia Romagna has witnessed an increase in the number of children who are in need of special support. The aim of the study was to identify the causes of disability in children attending public schools during the school year 2012-2013. METHODS: The study was designed as a cross-sectional survey...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28211606/nrf2-a-novel-therapeutic-target-in-fragile-x-syndrome-is-modulated-by-nnz2566
#20
Robert M J Deacon, Michael J Hurley, Camila Martínez Rebolledo, Mike Snape, Francisco J Altimiras, Leandro Farías, Michael Pino, Rodolfo Biekofsky, Larry Glass, Patricia Cogram
Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP). Among these disorders is fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autism. Progress in basic neuroscience has led to identification of molecular targets for treatment in FXS; however, there is a gap in translation to targeted therapies in humans. The present study introduces a novel therapeutic target for FXS: nuclear factor (erythroid-derived 2)-like 2 (Nrf2), a transcription factor known to induce expression of over 100 cytoprotective genes...
February 17, 2017: Genes, Brain, and Behavior
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