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Intellectual disability

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https://www.readbyqxmd.com/read/28918504/autism-spectrum-disorders-and-disease-modeling-using-stem-cells
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28901431/isolated-chromosome-8p23-2%C3%A2-pter-deletion-novel-evidence-for-developmental-delay-intellectual-disability-microcephaly-and-neurobehavioral-disorders
#15
Shanshan Shi, Shaobin Lin, Baojiang Chen, Yi Zhou
The current study presents a patient carrying a de novo ~6 Mb deletion of the isolated chromosome 8p23.2‑pter that was identified with a single‑nucleotide polymorphism array. The patient was characterized by developmental delay (DD)/intellectual disability (ID), microcephaly, autism spectrum disorder, attention‑deficit/hyperactivity disorders and mildly dysmorphic features. The location, size and gene content of the deletion observed in this patient were compared with those in 7 patients with isolated 8p23...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28901405/genotype-phenotype-analysis-in-a-male-patient-with-partial-trisomy-4p-and-monosomy-20q-due-to-maternal-reciprocal-translocation%C3%A2-4-20-a-case-report
#16
Dong Wu, Hui Zhang, Qiaofang Hou, Hongdan Wang, Tao Wang, Shixiu Liao
Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and facial dysmorphism. The karyotype of the proband exhibited 46, XY, add(20) (q13.3). The karyotype of the mother indicated a balanced translocation karyotype: 46, XX, t(4;20) (p15...
August 29, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28901202/intellectual-disability-hate-crime-and-other-social-constructions-a-view-from-south-yorkshire
#17
Alex McClimens, Jacqui Brewster
The category of hate crime is a recent legislative response to the increasing levels of antisocial, criminal and discriminatory behaviours and practices that target a wide spectrum of individuals on the basis of their identification within certain minority sociological subcultures. People with intellectual disability are often targeted for this kind of behaviour. Here, we report on an evaluation of one English city's efforts to instigate a street-based scheme to offer some security and protection to its intellectually disabled citizens...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28899917/activity-dependent-dysfunction-in-visual-and-olfactory-sensory-systems-in-mouse-models-of-down-syndrome
#18
Christopher M William, Lubna Saqran, Matthew A Stern, Charles L Chiang, Scott Herrick, Aziz Rangwala, Mark W Albers, Matthew P Frosch, Bradley T Hyman
Activity-dependent synaptic plasticity plays a critical role in the refinement of circuitry during postnatal development and may be disrupted in conditions that cause intellectual disability such as Down syndrome (DS). To test this hypothesis, visual cortical plasticity was assessed in Ts65Dn mice that harbor a chromosomal duplication syntenic to human chromosome 21q. We find that Ts65Dn mice demonstrate a defect in ocular dominance plasticity (ODP) following monocular deprivation. This phenotype is similar to that of transgenic mice that express amyloid precursor protein (APP), which is duplicated in DS and in Ts65DN mice; however, normalizing APP gene copy number in Ts65Dn mice fails to rescue plasticity...
September 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28898924/prevalence-of-autism-spectrum-disorders-with-and-without-intellectual-disability-by-gestational-age-at-birth-in-the-stockholm-youth-cohort-a-register-linkage-study
#19
Sherlly Xie, Hein Heuvelman, Cecilia Magnusson, Dheeraj Rai, Kristen Lyall, Craig J Newschaffer, Christina Dalman, Brian K Lee, Kathryn Abel
BACKGROUND: Preterm birth has been linked to increased risk of autism spectrum disorders (ASD), but how this risk changes with gestational age at birth has not been well characterised, especially with regard to co-occurring intellectual disability (ID). METHODS: Register-based cohort study of singleton births in 1984-2007 in Stockholm County, Sweden (N total: 480 728; n ASD: 10 025). We assessed overall and sex-specific, gestational week-specific prevalence estimates and risk ratios of ASD with and without ID...
September 12, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28898540/compound-heterozygous-trpv4-mutations-in-two-siblings-with-a-complex-phenotype-including-severe-intellectual-disability-and-neuropathy
#20
My Linh Thibodeau, Colin H Peters, Katelin N Townsend, Yaoqing Shen, Glenda Hendson, Shelin Adam, Kathryn Selby, Patrick M Macleod, Cynthia Gershome, Peter Ruben, Steven J M Jones, Jan M Friedman, William T Gibson, Gabriella A Horvath
TRPV4 encodes a polymodal calcium-permeable plasma membrane channel. Dominant pathogenic mutations in TRPV4 lead to a wide spectrum of abnormal phenotypes. This is the first report of biallelic TRPV4 mutations and we describe two compound heterozygous siblings presenting with a complex phenotype including severe neuromuscular involvement. In light of previously well described dominant inheritance for TRPV4-related neuromuscular disease, our study suggests a role for compound heterozygosity and loss-of-function as a potential novel disease mechanism for this group of disorders...
September 12, 2017: American Journal of Medical Genetics. Part A
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