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Intellectual deficiency

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https://www.readbyqxmd.com/read/29025426/the-complete-european-guidelines-on-phenylketonuria-diagnosis-and-treatment
#1
REVIEW
A M J van Wegberg, A MacDonald, K Ahring, A Bélanger-Quintana, N Blau, A M Bosch, A Burlina, J Campistol, F Feillet, M Giżewska, S C Huijbregts, S Kearney, V Leuzzi, F Maillot, A C Muntau, M van Rijn, F Trefz, J H Walter, F J van Spronsen
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method...
October 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29021890/zebrafish-knockout-of-down-syndrome-gene-dyrk1a-shows-social-impairments-relevant-to-autism
#2
Oc-Hee Kim, Hyun-Ju Cho, Enna Han, Ted Inpyo Hong, Krishan Ariyasiri, Jung-Hwa Choi, Kyu-Seok Hwang, Yun-Mi Jeong, Se-Yeol Yang, Kweon Yu, Doo-Sang Park, Hyun-Woo Oh, Erica E Davis, Charles E Schwartz, Jeong-Soo Lee, Hyung-Goo Kim, Cheol-Hee Kim
BACKGROUND: DYRK1A maps to the Down syndrome critical region at 21q22. Mutations in this kinase-encoding gene have been reported to cause microcephaly associated with either intellectual disability or autism in humans. Intellectual disability accompanied by microcephaly was recapitulated in a murine model by overexpressing Dyrk1a which mimicked Down syndrome phenotypes. However, given embryonic lethality in homozygous knockout (KO) mice, no murine model studies could present sufficient evidence to link Dyrk1a dysfunction with autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28990258/baseline-connectome-modular-abnormalities-in-the-childhood-phase-of-a-longitudinal-study-on-individuals-with-chromosome-22q11-2-deletion-syndrome
#3
Liang Zhan, Lisanne M Jenkins, Aifeng Zhang, Giorgio Conte, Angus Forbes, Danielle Harvey, Kathleen Angkustsiri, Naomi J Goodrich-Hunsaker, Courtney Durdle, Aaron Lee, Cyndi Schumann, Owen Carmichael, Kristopher Kalish, Alex D Leow, Tony J Simon
Occurring in at least 1 in 3,000 live births, chromosome 22q11.2 deletion syndrome (22q11DS) produces a complex phenotype that includes a constellation of medical complications such as congenital cardiac defects, immune deficiency, velopharyngeal dysfunction, and characteristic facial dysmorphic features. There is also an increased incidence of psychiatric diagnosis, especially intellectual disability and ADHD in childhood, lifelong anxiety, and a strikingly high rate of schizophrenia spectrum disorders, which occur in around 30% of adults with 22q11DS...
October 8, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28958596/increased-levels-of-inflammatory-plasma-markers-and-obesity-risk-in-a-mouse-model-of-down-syndrome
#4
REVIEW
M Fructuoso, L Rachdi, E Philippe, R G Denis, C Magnan, H Le Stunff, N Janel, M Dierssen
Down syndrome (DS) is caused by the trisomy of human chromosome 21 and is the most common genetic cause of intellectual disability. In addition to the intellectual deficiencies and physical anomalies, DS individuals present a higher prevalence of obesity and subsequent metabolic disorders than healthy adults. There is increasing evidence from both clinical and experimental studies indicating the association of visceral obesity with a pro-inflammatory status and recent studies have reported that obese people with DS suffer from low-grade systemic inflammation...
September 25, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28957739/novel-mutations-and-their-genotype-phenotype-correlations-in-patients-with-noonan-syndrome-using-next-generation-sequencing
#5
Alireza Tafazoli, Peyman Eshraghi, Francesca Pantaleoni, Rahim Vakili, Morteza Moghaddassian, Martha Ghahraman, Valentina Muto, Stefano Paolacci, Fatemeh Fardi Golyan, Mohammad Reza Abbaszadegan
PURPOSE: Noonan Syndrome (NS) is an autosomal dominant disorder with many variable and heterogeneous conditions. The genetic basis for 20-30% of cases is still unknown. This study evaluates Iranian Noonan patients both clinically and genetically for the first time. MATERIALS/METHODS: Mutational analysis of PTPN11 gene was performed in 15 Iranian patients, using PCR and Sanger sequencing at phase one. Then, as phase two, Next Generation Sequencing (NGS) in the form of targeted resequencing was utilized for analysis of exons from other related genes...
September 26, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28951849/enhancing-reading-abilities-of-learners-with-intellectual-impairments-through-computer-technology
#6
Cina P Mosito, Albert M Warnick, Emmanuel E Esambe
BACKGROUND: Developments in the teaching of children with disabilities support pedagogy that emphasises learners' strengths as opposed to their assumed deficiencies. Educators and mediators who advocate this view continually strive for tools and methodologies that enhance learner participation in academic environments. Computer technology is one of the tools recognised for its potential to enrich learning experiences of learners with an intellectual impairment. OBJECTIVES: We sought to assess the influence of text-to-speech stories on the reading ability of intellectually challenged learners...
2017: Afr J Disabil
https://www.readbyqxmd.com/read/28948974/a-upf3b-mutant-mouse-model-with-behavioral-and-neurogenesis-defects
#7
L Huang, E Y Shum, S H Jones, C-H Lou, J Dumdie, H Kim, A J Roberts, L A Jolly, J L Espinoza, D M Skarbrevik, M H Phan, H Cook-Andersen, N R Swerdlow, J Gecz, M F Wilkinson
Nonsense-mediated RNA decay (NMD) is a highly conserved and selective RNA degradation pathway that acts on RNAs terminating their reading frames in specific contexts. NMD is regulated in a tissue-specific and developmentally controlled manner, raising the possibility that it influences developmental events. Indeed, loss or depletion of NMD factors have been shown to disrupt developmental events in organisms spanning the phylogenetic scale. In humans, mutations in the NMD factor gene, UPF3B, cause intellectual disability (ID) and are strongly associated with autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) and schizophrenia (SCZ)...
September 26, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28934988/iron-deficiency-parameters-in-autism-spectrum-disorder-clinical-correlates-and-associated-factors
#8
Serkan Gunes, Ozalp Ekinci, Tanju Celik
BACKGROUND: High prevalence of iron deficiency (ID) and iron deficiency anemia (IDA) has been reported in children with autism spectrum disorder (ASD). However, there is a limited number of studies about the association between iron deficiency parameters and clinical symptoms of ASD. This study aims to compare hemoglobin, hematocrit, iron, ferritin, MCV, and RDW levels between ASD patients and healthy controls and to investigate the correlation between these values and clinical symptoms of ASD...
September 21, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28922699/vision-assessment-in-persons-with-intellectual-disabilities
#9
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/28915855/massive-parallel-sequencing-as-a-new-diagnostic-approach-for-phenylketonuria-and-tetrahydrobiopterin-deficiency-in-thailand
#10
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/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/28892570/dnajc12-and-dopa-responsive-nonprogressive-parkinsonism
#12
Letizia Straniero, Ilaria Guella, Roberto Cilia, Laura Parkkinen, Valeria Rimoldi, Alexander Young, Rosanna Asselta, Giulia Soldà, Vesna Sossi, A Jon Stoessl, Alberto Priori, Kenya Nishioka, Nobutaka Hattori, Jordan Follett, Alex Rajput, Nenad Blau, Gianni Pezzoli, Matthew J Farrer, Stefano Goldwurm, Ali H Rajput, Stefano Duga
Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63* and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild nonprogressive, motor symptoms, sustained benefit from small dose of levodopa, and substantial worsening of symptoms after levodopa discontinuation. Neuropathology (Proband-A) revealed no alpha-synuclein pathology, and substantia nigra depigmentation with moderate cell loss...
September 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28874292/malignant-cardiac-phenotypic-expression-of-danon-disease-lamp2-cardiomyopathy
#13
Fatima Samad, Renuka Jain, M Fuad Jan, Nasir Z Sulemanjee, Puneet Menaria, Lindsey Kalvin, Michelle Bush, Arshad Jahangir, Bijoy K Khandheria, A Jamil Tajik
INTRODUCTION: Danon disease is an X-linked lysosomal condition that causes a deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. It is characterized clinically by a triad of skeletal myopathy, cardiomyopathy, and intellectual disability. METHODS: We examined clinical, echocardiographic, and genetic data on 5 patients with Danon disease, highlighting their clinical course and outcomes. RESULTS: All patients presented phenotypically with hypertrophic cardiomyopathy and later developed systolic dysfunction...
October 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28868593/mutation-in-the-agk-gene-in-two-siblings-with-unusual-sengers-syndrome
#14
Sanae Allali, Imen Dorboz, Simon Samaan, Abdelhamid Slama, Charlène Rambaud, Odile Boespflug-Tanguy, Catherine Sarret
Sengers syndrome is a rare autosomal recessive metabolic disorder caused by lack of acylglycerol kinase due to mutations in the AGK gene. It is characterized by congenital cataract, hypertrophic cardiomyopathy, myopathy and lactic acidosis. Two clinical forms have been described: a severe neonatal form, and a more benign form displaying exercise intolerance. We describe two siblings with congenital cataract, cardiomyopathy, hypotonia, intellectual disability and lactic acidosis. Whole exome sequencing revealed a homozygous c...
September 3, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28864868/meta-analysis-of-intelligence-quotient-iq-in-obsessive-compulsive-disorder
#15
REVIEW
Amitai Abramovitch, Gideon Anholt, Sagi Raveh-Gottfried, Naama Hamo, Jonathan S Abramowitz
Obsessive compulsive disorder (OCD) is associated with a moderate degree of underperformance on cognitive tests, including deficient processing speed. However, despite little research focusing on Intelligence Quotient (IQ) in OCD, it has long been speculated that the disorder is associated with elevated intellectual capacity. The present meta-analytic study was, therefore, conducted to quantitatively summarize the literature on IQ in OCD systematically. We identified 98 studies containing IQ data among individuals with OCD and non-psychiatric comparison groups, and computed 108 effect sizes for Verbal IQ (VIQ, n = 55), Performance IQ (PIQ, n = 13), and Full Scale IQ (FSIQ, n = 40)...
September 1, 2017: Neuropsychology Review
https://www.readbyqxmd.com/read/28862395/phelan-mcdermid-syndrome-data-network-integrating-patient-reported-outcomes-with-clinical-notes-and-curated-genetic-reports
#16
Cartik Kothari, Maxime Wack, Claire Hassen-Khodja, Sean Finan, Guergana Savova, Megan O'Boyle, Geraldine Bliss, Andria Cornell, Elizabeth J Horn, Rebecca Davis, Jacquelyn Jacobs, Isaac Kohane, Paul Avillach
The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan-McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan-McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype-genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes-two heterogeneous, underutilized sources of knowledge about patient phenotypes-with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn...
September 1, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28834083/microstructural-white-matter-tract-alteration-in-prader-willi-syndrome-a-diffusion-tensor-imaging-study
#17
Lauren J Rice, Jim Lagopoulos, Michael Brammer, Stewart L Einfeld
Prader-Willi Syndrome (PWS) is a genetic disorder characterized by infantile hypotonia, hyperphagia, hypogonadism, growth hormone deficiency, intellectual disability, and severe emotional and behavioral problems. The brain mechanisms that underpin these disturbances are unknown. Diffusion tensor imaging (DTI) enables in vivo investigation of the microstructural integrity of white matter pathways. To date, only one study has used DTI to examine white matter alterations in PWS. However, that study used selected regions of interest, rather than a whole brain analysis...
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28833804/item-response-theory-analysis-applied-to-the-spanish-version-of-the-personal-outcomes-scale
#18
J Guàrdia-Olmos, M Carbó-Carreté, M Peró-Cebollero, C Giné
BACKGROUND: The study of measurements of quality of life (QoL) is one of the great challenges of modern psychology and psychometric approaches. This issue has greater importance when examining QoL in populations that were historically treated on the basis of their deficiency, and recently, the focus has shifted to what each person values and desires in their life, as in cases of people with intellectual disability (ID). Many studies of QoL scales applied in this area have attempted to improve the validity and reliability of their components by incorporating various sources of information to achieve consistency in the data obtained...
November 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28818555/pyridoxine-5-phosphate-oxidase-pnpo-deficiency-clinical-and-biochemical-alterations-associated-with-the-c-347g-a-p-%C3%A2-arg116gln-mutation
#19
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci, Davide Mei, Martino Montomoli, Angela Tramonti, Renzo Guerrini, Roberto Contestabile, Vincenzo Leuzzi
BACKGROUND: Pyridoxal-5(')-phosphate oxidase (PNPO) deficiency presents as a severe neonatal encephalopathy responsive to pyridoxal-5(')-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected genetic variants on PNPO gene whose pathogenic role and clinical expression remain to be established. OBJECTIVE: This paper aims to characterize the functional effects of the c.347G>A (p.Arg116Gln) mutation in the PNPO gene in order to define its pathogenicity and describe the clinical features of new patients with epilepsy carrying this mutation...
September 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28813484/d-cycloserine-improves-synaptic-transmission-in-an-animal-mode-of-rett-syndrome
#20
Elisa S Na, Héctor De Jesús-Cortés, Arlene Martinez-Rivera, Zeeba D Kabir, Jieqi Wang, Vijayashree Ramesh, Yasemin Onder, Anjali M Rajadhyaksha, Lisa M Monteggia, Andrew A Pieper
Rett syndrome (RTT), a leading cause of intellectual disability in girls, is predominantly caused by mutations in the X-linked gene MECP2. Disruption of Mecp2 in mice recapitulates major features of RTT, including neurobehavioral abnormalities, which can be reversed by re-expression of normal Mecp2. Thus, there is reason to believe that RTT could be amenable to therapeutic intervention throughout the lifespan of patients after the onset of symptoms. A common feature underlying neuropsychiatric disorders, including RTT, is altered synaptic function in the brain...
2017: PloS One
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