keyword
MENU ▼
Read by QxMD icon Read
search

Intellectual disabilities

keyword
https://www.readbyqxmd.com/read/28922699/vision-assessment-in-persons-with-intellectual-disabilities
#1
Werner Eisenbarth
PURPOSE: To investigate the degree of visual acuity in workers with intellectual disabilities and the impact of vision on their working conditions. METHODS: We recruited 224 workers (mean age 43.77 years, SD ± 12.96; range, 19-72 years) from a workshop for those with intellectual disabilities, to participate in a vision examination program. The assessment consisted of objective refraction, visual acuity, ocular motility, near-point of convergence, cover/uncover test, stereo acuity and colour perception...
September 18, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28922055/nance-horan-syndrome-in-females-due-to-a-balanced-x-1-translocation-that-disrupts-the-nhs-gene-familial-case-report-and-review-of-the-literature
#2
Laura Gómez-Laguna, Alejandro Martínez-Herrera, Alejandra Del Pilar Reyes-de la Rosa, Constanza García-Delgado, Karem Nieto-Martínez, Fernando Fernández-Ramírez, Tania Yanet Valderrama-Atayupanqui, Ariadna Berenice Morales-Jiménez, Judith Villa-Morales, Susana Kofman, Alicia Cervantes, Verónica Fabiola Morán-Barroso
The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% of the affected males have intellectual disability. We describe two patients, mother and daughter, manifesting Nance-Horan syndrome. The cytogenetic and molecular analyses demonstrated a 46,X,t(X;1)(p22.13;q22) karyotype in each of them...
September 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28921851/new-intellectual-disability-syndrome-identified-wdr26-haploinsufficiency-is-rare-but-could-provide-explanations-to-some-patients
#3
(no author information available yet)
No abstract text is available yet for this article.
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28921563/advanced-genomic-testing-may-aid-in-counseling-of-isolated-agenesis-of-the-corpus-callosum-on-prenatal-ultrasound
#4
M C de Wit, F Boekhorst, G M Mancini, L S Smit, I A L Groenenberg, J Dudink, F A T de Vries, A T J I Go, R J H Galjaard
OBJECTIVE: Isolated agenesis of the corpus callosum (ACC) on fetal ultrasound has a varied prognosis. Microarray and exome sequencing might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete ACC (cACC) on ultrasound. All cases were offered SNP array. Complementary exome sequencing (ES) was offered postnatally in selected cases. Clinical physical and neurodevelopmental follow-up was collected. RESULTS: Eighteen cases opted for SNP array testing, which detected a causal anomaly in 2/18(11...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28921543/language-growth-in-children-with-heterogeneous-language-disorders-a-population-study
#5
Courtenay Frazier Norbury, George Vamvakas, Debbie Gooch, Gillian Baird, Tony Charman, Emily Simonoff, Andrew Pickles
BACKGROUND: Language development has been characterised by significant individual stability from school entry. However, the extent to which trajectories of language growth vary in children with language disorder as a function of co-occurring developmental challenges is a question of theoretical import, with implications for service provision. METHODS: SCALES employed a population-based survey design with sample weighting procedures to estimate growth in core language skills over the first three years of school...
October 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28920961/germline-mutations-affecting-the-histone-h4-core-cause-a-developmental-syndrome-by-altering-dna-damage-response-and-cell-cycle-control
#6
Federico Tessadori, Jacques C Giltay, Jane A Hurst, Maarten P Massink, Karen Duran, Harmjan R Vos, Robert M van Es, Richard H Scott, Koen L I van Gassen, Jeroen Bakkers, Gijs van Haaften
Covalent modifications of histones have an established role as chromatin effectors, as they control processes such as DNA replication and transcription, and repair or regulate nucleosomal structure. Loss of modifications on histone N tails, whether due to mutations in genes belonging to histone-modifying complexes or mutations directly affecting the histone tails, causes developmental disorders or has a role in tumorigenesis. More recently, modifications affecting the globular histone core have been uncovered as being crucial for DNA repair, pluripotency and oncogenesis...
September 18, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28918504/autism-spectrum-disorders-and-disease-modeling-using-stem-cells
#7
REVIEW
Anita Brito, Fabiele Baldino Russo, Alysson Renato Muotri, Patricia Cristina Baleeiro Beltrão-Braga
Autism spectrum disorders (ASD) represent a variety of disorders characterized as complex lifelong neurodevelopment disabilities, which may affect the ability of communication and socialization, including typical comportments like repetitive and stereotyped behavior. Other comorbidities are usually present, such as echolalia, hypotonia, intellectual disability and difficulties in processing figured speech. Furthermore, some ASD individuals may present certain abilities, such as eidetic memory, outstanding musical or painting talents and special mathematical skills, among others...
September 16, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28918309/health-and-wellbeing-during-transition-to-adulthood-for-young-people-with-intellectual-disabilities-a-qualitative-study
#8
Genevieve Young-Southward, Sally-Ann Cooper, Christopher Philo
BACKGROUND: Transition to adulthood may have negative consequences for health and wellbeing in individuals with intellectual disabilities (ID), but this aspect of transition has received little investigation. This qualitative study aimed to explore the transition experiences of individuals with ID from their own perspectives, and from that of their parents, in order to identify health or wellbeing implications of transition. METHOD: Semi-structured interviews were conducted with 17 young people with mild, moderate and severe ID aged 16-27 years and with 23 parents of young people with mild, moderate, severe and profound ID aged 16-26 years...
September 14, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28918307/an-application-of-bandura-s-four-sources-of-self-efficacy-to-the-self-management-of-type-2-diabetes-in-people-with-intellectual-disability-an-inductive-and-deductive-thematic-analysis
#9
Andrew Maine, Adele Dickson, Maria Truesdale, Michael Brown
BACKGROUND: Little is known about the successful experiences and positive perceptions of people with intellectual disabilities (ID) self-managing Type 2 Diabetes (T2D). This study sought to address this gap using Bandura's (1977) 'Four Sources of Self-Efficacy' as a framework of enquiry. METHOD: Semi-structured interviews were conducted with 10 adults with ID. Interviews were recorded, transcribed verbatim and analysed using inductive and deductive thematic analysis RESULTS: Nine sub-themes were identified following analysis of the data: 1) Mastery through knowledge; 2) Mastery through tools and strategies; 3) Mastery through autonomy; 4) Influence of social setting; 5) Positive social comparisons; 6) Positive and negative self-statements; 7) Feedback from caregivers; 8) Adjustment experiences; 9) Symptom awareness...
September 14, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28917202/mechanisms-of-maguk-mediated-cellular-junctional-complex-organization
#10
REVIEW
Fei Ye, Menglong Zeng, Mingjie Zhang
Membrane-associated guanylate kinases (MAGUKs) are a family of scaffold proteins that are enriched in cellular junctions and essential for tissue development and homeostasis. Mutations of MAGUKs are linked to many human diseases including cancers, psychiatric disorders, and intellectual disabilities. MAGUKs share a common PDZ-SH3-GK tandem domain organization at the C-terminal end. In this review, we summarize the mechanistic basis governing target recognition and regulations of this binding by the PDZ-SH3-GK tandem of various MAGUKs...
September 13, 2017: Current Opinion in Structural Biology
https://www.readbyqxmd.com/read/28916377/clinical-and-molecular-characterization-of-two-chinese-patients-with-type-2-congenital-generalized-lipodystrophy
#11
Ruimin Chen, Xin Yuan, Jian Wang, Ying Zhang
BACKGROUND: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. METHODS: Medical history, clinical manifestations, physical examination, laboratory data, and ultrasonography findings were analyzed for the two patients with CGL2...
September 12, 2017: Gene
https://www.readbyqxmd.com/read/28915855/massive-parallel-sequencing-as-a-new-diagnostic-approach-for-phenylketonuria-and-tetrahydrobiopterin-deficiency-in-thailand
#12
Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BACKGROUND: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4) biosynthesis pathway. Dietary restriction of phenylalanine is considered to be the main treatment of PKU to prevent irreversible intellectual disability. However, the same dietary intervention in BH4 deficiency patients is not as effective, as BH4 is also a cofactor in many neurotransmitter syntheses...
September 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28914729/mental-health-service-use-among-youth-with-autism-spectrum-disorder
#13
Stephanie Ryan, Jonathan Lai, Jonathan A Weiss
OBJECTIVE: Although youth with autism have elevated rates of mental health problems compared to typically developing youth, little is known about the mental health services that they receive. The current study examines predisposing, enabling, and clinical need factors as they relate to mental health service use in youth with autism. METHODS: The current study surveyed parents of 2337 children and adolescents with autism, compared their access to behavioral management and mental health treatment (MHT), and isolated the correlates of such receipt...
September 7, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28914585/planning-future-care-services-analyses-of-investments-in-norwegian-municipalities
#14
Terje P Hagen, Laila Tingvold
AIMS: To analyse whether the Norwegian Central Government's goal of subsidizing 12,000 places in nursing homes or sheltered housing using an earmarked grant was reached and to determine towards which group of users the planned investments were targeted. METHODS: Data from the investment plans at municipal level were provided by the Norwegian Housing Bank and linked to variables describing the municipalities' financial situation as well as variables describing the local needs for services provided by Statistics Norway...
September 1, 2017: Scandinavian Journal of Public Health
https://www.readbyqxmd.com/read/28910830/consensus-guidelines-for-therapeutic-drug-monitoring-in-neuropsychopharmacology-update-2017
#15
C Hiemke, N Bergemann, H W Clement, A Conca, J Deckert, K Domschke, G Eckermann, K Egberts, M Gerlach, C Greiner, G Gründer, E Haen, U Havemann-Reinecke, G Hefner, R Helmer, G Janssen, E Jaquenoud, G Laux, T Messer, R Mössner, M J Müller, M Paulzen, B Pfuhlmann, P Riederer, A Saria, B Schoppek, G Schoretsanitis, M Schwarz, M Silva Gracia, B Stegmann, W Steimer, J C Stingl, M Uhr, S Ulrich, S Unterecker, R Waschgler, G Zernig, G Zurek, P Baumann
Therapeutic drug monitoring (TDM) is the quantification and interpretation of drug concentrations in blood to optimize pharmacotherapy. It considers the interindividual variability of pharmacokinetics and thus enables personalized pharmacotherapy. In psychiatry and neurology, patient populations that may particularly benefit from TDM are children and adolescents, pregnant women, elderly patients, individuals with intellectual disabilities, patients with substance abuse disorders, forensic psychiatric patients or patients with known or suspected pharmacokinetic abnormalities...
September 14, 2017: Pharmacopsychiatry
https://www.readbyqxmd.com/read/28905509/de-novo-setd5-loss-of-function-variant-as-a-cause-for-intellectual-disability-in-a-10-year-old-boy-with-an-aberrant-blind-ending-bronchus
#16
Claire Green, Joshua Willoughby, Meena Balasubramanian
Although rare, 3p microdeletion cases have been well described in the clinical literature. The clinical phenotype includes; intellectual disability (ID), growth retardation, facial dysmorphism, and cardiac malformations. Advances in chromosome microarray (CMA) testing narrowed the 3p25 critical region to a 124 kb region, and recent Whole Exome Sequencing (WES) studies have suggested that the SETD5 gene contributes significantly to the 3p25 phenotype. Loss-of-Function (LoF) variants in SETD5 are now considered a likely cause of ID...
September 14, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28905505/biallelic-variants-in-wars2-encoding-mitochondrial-tryptophanyl-trna-synthase-in-six-individuals-with-mitochondrial-encephalopathy
#17
Saskia B Wortmann, Sharita Timal, Hanka Venselaar, Liesbeth T Wintjes, Robert Kopajtich, René G Feichtinger, Carla Onnekink, Mareike Mühlmeister, Ulrich Brandt, Jan A Smeitink, Joris A Veltman, Wolfgang Sperl, Dirk Lefeber, Ger Pruijn, Vesna Stojanovic, Peter Freisinger, Francjan V Spronsen, Terry Gj Derks, Hermine E Veenstra-Knol, Johannes A Mayr, Agnes Rötig, Mark Tarnopolsky, Holger Prokisch, Richard J Rodenburg
Mitochondrial protein synthesis involves an intricate interplay between mitochondrial DNA encoded RNAs and nuclear DNA encoded proteins, such as ribosomal proteins and aminoacyl-tRNA synthases. Eukaryotic cells contain 17 mitochondria-specific aminoacyl-tRNA synthases. WARS2 encodes mitochondrial tryptophanyl-tRNA synthase (mtTrpRS), a homodimeric class Ic enzyme (mitochondrial tryptophan-tRNA ligase; EC 6.1.1.2). Here, we report six individuals from five families presenting with either severe neonatal onset lactic acidosis, encephalomyopathy and early death or a later onset, more attenuated course of disease with predominating intellectual disability...
September 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28903905/the-pathogenicity-of-genomic-genetic-variant-of-x-chromosomal-genes-in-males-with-intellectual-disability
#18
Ji-Ping Peng, Fang Liu, Hua Xie, Xiao-Li Chen
Intellectual Disability (ID, previously named mental retardation) is a group of common pediatric neurology disorders characterized by extensive genetic and phenotypic heterogeneity. About 25%-50% of ID was caused by genomic/genetic variants, in which genomic/genetic variants of X-chromosome are one of key pathogenic causation (25%-30%), resulting in X-linked ID (XLID). The epidemiological data showed that the male to female ratio is 1.3: 1 in ID patients. The prevalence of XLID in the whole ID population is 10%-15%, and this prevalence reaches 20%-25% in the male ID population...
June 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28902689/experiences-of-adults-with-intellectual-disability-who-identify-as-lesbian-gay-bisexual-transgender-queer-or-questioning-intersex-or-asexual-a-systematic-review-protocol
#19
Vemel Ramasamy, Fiona Rillotta, June Alexander
The purpose of this systematic review is to identify, appraise and synthesize the best available qualitative evidence on the lived experiences of adults with intellectual disability who identify as lesbian, gay, bisexual, transgender, queer or questioning, intersex or asexual in mainstream society.
September 2017: JBI Database of Systematic Reviews and Implementation Reports
https://www.readbyqxmd.com/read/28902392/expanding-the-clinical-and-molecular-spectrum-of-prmt7-mutations-three-additional-patients-and-review
#20
Emanuele Agolini, Maria Lisa Dentici, Emanuele Bellacchio, Viola Alesi, Francesca Clementina Radio, Annalaura Torella, Francesco Musacchia, Marco Tartaglia, Bruno Dallapiccola, Vincenzo Nigro, Maria Cristina Digilio, Antonio Novelli
Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, seven patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures)...
September 13, 2017: Clinical Genetics
keyword
keyword
9832
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"