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Intellectual And Disability

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https://read.qxmd.com/read/30776275/-family-context-of-children-with-autism-implications-for-emotional-and-social-development
#1
Álvaro Mira, Carmen Berenguer, Inmaculada Baixauli, Belén Roselló, Ana Miranda
Families of children with autism spectrum disorder (ASD) can be differentiated according to sociodemographics and environmental risk factors characterized by stress parental, the use of coping strategies and social support. The aim of this study was to analyze the behavioral, emotional and social manifestations of children with ASD, related to different types of families characterized according risk factors as families with "high risk", with "moderated risk" and with "low risk"...
2019: Medicina
https://read.qxmd.com/read/30776273/-functional-adaptation-and-disorders-of-the-autistic-spectrum
#2
Amaia Hervas, Patricia Romarís
Autism spectrum disorders (ASD) are neurodevelopmental disorders that affect social communication and present stereotyped behaviors; 30% of the cases diagnosed with ASD have intellectual disability and 2/3 an intellectual capacity within the norm. Although cognitive ability is related to better functional adaptation, however, the vast majority of people with ASD in adulthood have limited autonomy and are dependent on adults. In this article we review the concept of functional adaptation, its relationship with ASD, factors that influence a better functional adaptation, how to evaluate it and implications for treatment...
2019: Medicina
https://read.qxmd.com/read/30776145/hyperinsulinaemic-hypoglycaemia-a-new-presentation-of-16p11-2-deletion-syndrome
#3
Eirini Kostopoulou, Antonia Dastamani, Silvana Caiulo, Hannah Antell, Sarah E Flanagan, Pratik Shah
16p11.2 microdeletion syndrome is a recognisable chromosomal anomaly caused by microdeletions in the 16p11.2 locus. It is characterised by developmental delay, intellectual disability and social impairments or susceptibility to autism spectrum disorder. It also involves mild variable dysmorphism and predisposition to obesity. Motor skills, cognitive function and expressive language are mainly impaired and 20% of affected individuals present with epilepsy. There also appears to be an increase of all types of birth defects, particularly vertebral anomalies...
February 18, 2019: Clinical Endocrinology
https://read.qxmd.com/read/30775831/service-use-and-perceptions-of-service-effectiveness-by-parents-of-individuals-with-intellectual-disabilities-comparing-jewish-and-arab-israeli-parental-caregivers
#4
S Werner
BACKGROUND: The relationship between ethnicity, service use and perceptions of service effectiveness is inconclusive. This study examined differences in service use and perceptions of service effectiveness between Israeli Jewish (Jewish) and Israeli Arab (Arab) parental caregivers of individuals with intellectual disabilities and dual diagnosis of psychopathology. METHODS: Parental caregivers (n = 186) of individuals with intellectual disabilities or dual diagnosis, aged 10 to 30 years, completed a self-report questionnaire...
February 18, 2019: Journal of Intellectual Disability Research: JIDR
https://read.qxmd.com/read/30775822/behaviour-problems-in-people-with-intellectual-disabilities-validation-of-the-french-version-of-the-behaviour-problems-inventory-short-form
#5
L Oubrahim, N Combalbert
OBJECTIVE: The risk for the development of severe behaviour problems by individuals with intellectual disability (ID) is a well-known concern. However, there are currently no reliable instruments for assessing these behaviours in French. The Behaviour Problems Inventory - Short Form (BPI-S) assesses these three types of behaviour in people with ID: self-injurious behaviour (eight items), aggressive/destructive behaviours (10 items) and stereotypic behaviours (12 items). The purpose of this study was to conduct a psychometric study of a French version of the BPI-S...
February 18, 2019: Journal of Intellectual Disability Research: JIDR
https://read.qxmd.com/read/30775818/a-walk-on-water-comparing-the-influence-of-ai-chi-and-tai-chi-on-fall-risk-and-verbal-working-memory-in-ageing-people-with-intellectual-disabilities-a-randomised-controlled-trial
#6
M Nissim, Y Hutzler, A Goldstein
BACKGROUND: Aquatic motor intervention has been found to be effective in reducing falls and improving verbal working memory among the general population. However, effects among older adults with intellectual disabilities (ID) have never been explored. The aim of this study was to examine the effects of aquatic motor intervention on fall risk and verbal working memory among older adults with ID. METHODS: Forty-one older adults with mild to moderate ID (age: 50-66 years) were randomly assigned to 14 weeks of aquatic motor intervention (Ai Chi: N = 19) or identical on-land motor intervention (Tai Chi: N = 22)...
February 18, 2019: Journal of Intellectual Disability Research: JIDR
https://read.qxmd.com/read/30775047/a-novel-de-novo-frameshift-mutation-in-kat6a-identified-by-whole-exome-sequencing
#7
Asem Alkhateeb, Wafa Alazaizeh
Intellectual disability is a common condition with multiple etiologies. The number of monogenic causes has increased steadily in recent years due to the implementation of next generation sequencing. Here, we describe a 2-year-old boy with global developmental delay and intellectual disability. The child had feeding difficulties since birth. He had delayed motor skills and muscular hypotonia. Brain magnetic resonance imaging revealed diffuse white matter loss and thinning of the corpus callosum. Banded karyotype and comparative genomic hybridization (CGH) array were normal...
March 2019: Journal of Pediatric Genetics
https://read.qxmd.com/read/30775046/chromosomal-microarray-analysis-in-children-with-unexplained-developmental-delay-intellectual-disability
#8
Pinar Arican, Nihal Olgac Dundar, Berk Ozyilmaz, Dilek Cavusoglu, Pinar Gencpinar, Kadri Murat Erdogan, Merve Saka Guvenc
Chromosomal microarray (CMA) analysis for discovery of copy number variants (CNVs) is now recommended as a first-line diagnostic tool in patients with unexplained developmental delay/intellectual disability (DD/ID) and autism spectrum disorders. In this study, we present the results of CMA analysis in patients with DD/ID. Of 210 patients, pathogenic CNVs were detected in 26 (12%) and variants of uncertain clinical significance in 36 (17%) children. The diagnosis of well-recognized genetic syndromes was achieved in 12 patients...
March 2019: Journal of Pediatric Genetics
https://read.qxmd.com/read/30773818/expanding-the-genetic-and-clinical-spectrum-of-the-nono-associated-x-linked-intellectual-disability-syndrome
#9
Colleen M Carlston, Steven B Bleyl, Ashley Andrews, Lindsay Meyers, Sara Brown, Pinar Bayrak-Toydemir, James F Bale, Lorenzo D Botto
The NONO gene encodes a nuclear protein involved in RNA metabolism. Hemizygous loss-of-function NONO variants have been associated with syndromic intellectual disability and with left ventricular noncompaction (LVNC). A two-year-old boy presented to the University of Utah's Penelope Undiagnosed Disease Program with developmental delay, nonfamilial features, relative macrocephaly, and dilated cardiomyopathy with LVNC and Ebstein anomaly. Brain MRI showed a thick corpus callosum, mild Chiari I malformation, and a flattened pituitary...
February 17, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30773728/an-eight-case-1q21-region-series-novel-aberrations-and-clinical-variability-with-new-features
#10
A C Ceylan, I Sahin, H B Erdem, G Kayhan, P O Simsek-Kiper, G E Utine, F Percin, K Boduroglu, M Alikasifoglu
BACKGROUND: Rearrangement of the 1q21 region of chromosome 1 manifests as multiple phenotypes, including microcephaly, intellectual disability, dysmorphic facial features, eye abnormalities, cardiac defects, genitourinary anomalies, autism spectrum disorder, psychiatric conditions and seizures. Herein, we describe eight patients with 1q21 deletion and duplication syndromes, and novel deletions and findings. METHODS: Chromosomal microarray analysis was performed to identify the existence of copy number variation...
February 18, 2019: Journal of Intellectual Disability Research: JIDR
https://read.qxmd.com/read/30773042/premorbid-estimates-of-neuropsychological-functioning-for-diverse-groups
#11
John E Meyers, Ronald M Miller, Martin L Rohling, Stephen S Kalat
One of the basic tasks performed by a neuropsychologist is to identify the difference between current performance and the premorbid expected performance. Baseline expected performance for Intellectually Impaired (n = 21), Developmentally Delayed (n = 40), Attention Deficit Disorder (n = 98), Learning Disability (n = 42), and "Normal" groups (n = 75) were developed along with a demographically corrected prediction of premorbid functioning and a word reading based prediction of premorbid functioning...
February 18, 2019: Applied Neuropsychology. Adult
https://read.qxmd.com/read/30772976/-pla2g6-compound-complicated-mutation-in-an-atypical-neuroaxonal-dystrophy-pedigree
#12
L M Ma, J Zhao, Y Y Shi, Z Z Chen, Z X Ren, J W Zhang
Objective: To analyze the clinical presentation, imaging features, and the mutation of the pathogenic genes in a Chinese Han atypical neuroaxonal dystrophy pedigree. Methods: A family of atypical neuroaxonal dystrophy pedigree who came to Henan Provincal People's Hospital in July 2016 was included. Clinical presentation, imaging features of the pedigree were analyzed, and all exon gene detection of the proband was performed to capture the target variations, then verified by sanger sequence. Another 4 family members' and 100 normal healthy controls' gene sequence of the mutations were also verified...
January 29, 2019: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://read.qxmd.com/read/30771478/whole-exome-sequencing-revealed-mutations-in-fbxl4-unc80-and-adkin-thai-patients-with-severe-intellectual-disabilities
#13
Chulaluck Kuptanon, Chalurmpon Srichomthong, Chupong Ittiwut, Thanin Wechapinan, Somjit Sri-Udomkajorn, Orawan Iamopas, Chureerat Phokaew, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Intellectual disabilities (ID) are etiologically heterogeneous. Advanced molecular techniques could be helpful in identification of the underlying genetic defects. We aimed to characterize clinical and molecular features of three Thai patients with ID. Patient 1 had ID, hypotonia and lactic acidosis. Patient 2 had ID and growth failure. Patient 3 had ID, seizure, diarrhea and hypoglycemia. Whole exome sequencing found that Patient 1 was homozygous for a nonsense, c.1303C>T (p.Arg435Ter), mutation in FBXL4, a gene responsible for encephalomyopathic mitochondrial DNA depletion syndrome-13 (MTDPS13)...
February 13, 2019: Gene
https://read.qxmd.com/read/30771457/fragile-x-mental-retardation-protein-positively-regulates-pka-anchor-rugose-and-pka-activity-to-control-actin-assembly-in-learning-memory-circuitry
#14
James C Sears, Woong Jae Choi, Kendal Broadie
Recent work shows Fragile X Mental Retardation Protein (FMRP) drives the translation of very large proteins (>2000 aa) mediating neurodevelopment. Loss of function results in Fragile X syndrome (FXS), the leading heritable cause of intellectual disability (ID) and autism spectrum disorder (ASD). Using the Drosophila FXS disease model, we discover FMRP positively regulates the translation of the very large A-Kinase Anchor Protein (AKAP) Rugose (>3000 aa), homolog of ASD-associated human Neurobeachin (NBEA)...
February 13, 2019: Neurobiology of Disease
https://read.qxmd.com/read/30771131/a-comparison-of-video-prompting-to-least-to-most-prompting-among-children-with-autism-and-intellectual-disability
#15
Mashal Salman Aljehany, Kyle D Bennett
Students with autism spectrum disorder (ASD) and intellectual disability (ID) may experience challenges when learning tasks that are complex and require numerous steps. This difficulty can lead to employment issues for this population of learners. Therefore, researchers have explored methods to teach employment-related tasks to students with ASD and ID. Two such procedures are video prompting (VP) and least-to-most prompting. These procedures are frequently combined as an intervention package to boost student responding...
February 15, 2019: Journal of Autism and Developmental Disorders
https://read.qxmd.com/read/30770860/a-novel-variant-of-the-human-mitochondrial-dnaj-protein-tid1-associates-with-a-human-disease-exhibiting-developmental-delay-and-polyneuropathy
#16
Malay Patra, Celeste Weiss, Bassam Abu-Libdeh, Motee Ashhab, Shadi Abuzer, Orly Elpeleg, Muhammad Mahajnah, Amit Kessel, Abdussalam Azem
Here, we describe a single patient from a consanguineous family, who suffers from developmental delay, intellectual disability, hypermetropia, moderate alternating esotropia, unsteady gait, and peripheral polyneuropathy. Brain MRI revealed basal ganglia disease. Exome analysis disclosed a homozygous variant, c.452G>C (p.(Arg151Thr)), in TID1, encoding a mitochondrial J-protein chaperone that is known for its function in assisting the Hsp70 chaperone, mortalin, in mediating the refolding of denatured protein and dissolving protein aggregates...
February 15, 2019: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/30768759/cnot2-as-the-critical-gene-for-phenotypes-of-12q15-microdeletion-syndrome
#17
Tomoko Uehara, Toshiki Takenouchi, Yu Yamaguchi, Yumi Daimon, Hisato Suzuki, Yuri Sakaguchi, Kenjiro Kosaki
Chromosome 12q15 microdeletion syndrome is characterized by intellectual disability and dysmorphic facial features, but the associations between each of the deleted genes and the phenotypes of 12q15 microdeletion syndrome remain unclear. Recently, the smallest region of overlap in 16 previously reported patients was used to define three candidate genes for the 12q15 microdeletion syndrome: CNOT2, KCNMB4, and PTPRB. Among these three candidate genes, CNOT2 maintains the structural integrity of the carbon catabolite repressor 4 (CCR4)-negative on TATA (NOT) complex, which plays a key role in regulating global gene expression, and is essential for the enzymatic activity of the CCR4-NOT complex...
February 15, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30768399/sex-differences-in-comorbidity-patterns-of-attention-deficit-hyperactivity-disorder
#18
Cæcilie Ottosen, Janne Tidselbak Larsen, Stephen V Faraone, Qi Chen, Catharina Hartman, Henrik Larsson, Liselotte Petersen, Søren Dalsgaard
OBJECTIVE: To investigate sex differences in associations between attention-deficit/hyperactivity disorder (ADHD) and a spectrum of comorbid disorders. METHOD: The study population included all children born in Denmark between 1981 and 2013 (N=1,665,729). We merged data from Danish registers and obtained information on birth characteristics, socioeconomic status, familial psychiatric history, and diagnoses of ADHD (n=32,308) and comorbid disorders. In order to estimate absolute and relative risks of comorbid disorders, incidence rates (IRs) and adjusted hazard ratios (HRs) with 95% CIs were calculated for females and males...
January 8, 2019: Journal of the American Academy of Child and Adolescent Psychiatry
https://read.qxmd.com/read/30767844/cognitive-performance-and-functional-outcomes-of-carriers-of-pathogenic-copy-number-variants-analysis-of-the-uk-biobank
#19
Kimberley M Kendall, Matthew Bracher-Smith, Harry Fitzpatrick, Amy Lynham, Elliott Rees, Valentina Escott-Price, Michael J Owen, Michael C O'Donovan, James T R Walters, George Kirov
BACKGROUND: Rare copy number variants (CNVs) are associated with risk of neurodevelopmental disorders characterised by varying degrees of cognitive impairment, including schizophrenia, autism spectrum disorder and intellectual disability. However, the effects of many individual CNVs in carriers without neurodevelopmental disorders are not yet fully understood, and little is known about the effects of reciprocal copy number changes of known pathogenic loci.AimsWe aimed to analyse the effect of CNV carrier status on cognitive performance and measures of occupational and social outcomes in unaffected individuals from the UK Biobank...
February 15, 2019: British Journal of Psychiatry: the Journal of Mental Science
https://read.qxmd.com/read/30767315/molecularly-confirmed-kabuki-niikawa-kuroki-syndrome-patients-demonstrate-a-specific-cognitive-profile-with-extensive-visuospatial-abnormalities
#20
J Harris, E M Mahone, H T Bjornsson
BACKGROUND: Kabuki (Niikawa-Kuroki) syndrome (KS) is caused by disease-causing variants in either of two components (KMT2D and KDM6A) of the histone methylation machinery. Nearly all individuals with KS have cognitive difficulties, and most have intellectual disability. Recent studies on a mouse model of KS suggest disruption of normal adult neurogenesis in the granule cell layer of the dentate gyrus of the hippocampus. These mutant mice also demonstrate hippocampal memory defects compared with littermates, but this phenotype is rescued postnatally with agents that target the epigenetic machinery...
February 14, 2019: Journal of Intellectual Disability Research: JIDR
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