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https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#1
REVIEW
Maria Arvio, Ilkka Mononen
Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27900362/de-novo-phip-predicted-deleterious-variants-are-associated-with-developmental-delay-intellectual-disability-obesity-and-dysmorphic-features
#2
Emily Webster, Megan T Cho, Nora Alexander, Sonal Desai, Sakkubai Naidu, Mir Reza Bekheirnia, Andrea Lewis, Kyle Retterer, Jane Juusola, Wendy K Chung
Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has previously been associated with similar clinical features. Patients with microdeletions of 6q14.1, including PHIP, have a similar phenotype of developmental delay, intellectual disability, hypotonia, and obesity, suggesting that the phenotype of our patients is a result of loss-of-function mutations...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27878920/-framed-terminating-the-parenting-rights-of-parents-with-intellectual-disability-in-iceland
#3
Hanna Björg Sigurjónsdóttir, James Gordon Rice
BACKGROUND: The aim was to investigate the role of measured intellectual function in framing parents as 'unfit' in child custody deprivation cases. METHOD: Grounded theory was used to analyse a national sample of custody deprivation cases in Iceland 2002-2014. RESULTS: The terminology used to evaluate and describe the intellectual and developmental status of parents in child deprivation custody cases served as a device to define and shape the 'unfit parent'...
November 23, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/27856333/novel-homozygous-missense-mutation-in-aldh7a1-causes-neonatal-pyridoxine-dependent-epilepsy
#4
Emanuele G Coci, Luca Codutti, Christian Fink, Sophie Bartsch, Gunnar Grüning, Thomas Lücke, Ingo Kurth, Joachim Riedel
Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain. ALDH7A1 dysfunction causes an accumulation of α-AASA and δ(1)-piperideine-6-carboxylic acid (P6C), which are in equilibrium with each other. P6C binds and inactivates pyridoxal 5'-phosphate (PLP), the active form of pyridoxine...
November 14, 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27844057/combined-treatment-with-environmental-enrichment-and-epigallocatechin-3-gallate-ameliorates-learning-deficits-and-hippocampal-alterations-in-a-mouse-model-of-down-syndrome
#5
Silvina Catuara-Solarz, Jose Espinosa-Carrasco, Ionas Erb, Klaus Langohr, Juan Ramon Gonzalez, Cedric Notredame, Mara Dierssen
Intellectual disability in Down syndrome (DS) is accompanied by altered neuro-architecture, deficient synaptic plasticity, and excitation-inhibition imbalance in critical brain regions for learning and memory. Recently, we have demonstrated beneficial effects of a combined treatment with green tea extract containing (-)-epigallocatechin-3-gallate (EGCG) and cognitive stimulation in young adult DS individuals. Although we could reproduce the cognitive-enhancing effects in mouse models, the underlying mechanisms of these beneficial effects are unknown...
September 2016: ENeuro
https://www.readbyqxmd.com/read/27827529/a-design-thinking-approach-to-primary-ovarian-insufficiency
#6
Lisa A Martin, Alison G Porter, Vincent A Pelligrini, Peter A Schnatz, Xuezhi Jiang, Nicole Kleinstreuer, Janet E Hall, Sarah Verbiest, Jill Olmstead, Ryan Fair, Alberto Falorni, Luca Persani, Aleksandar Rajkovic, Khanjan Mehta, Lawrence M Nelson
Most clinicians are not prepared to provide integrated personal care to address all the clinical needs of women with primary ovarian insufficiency. Design thinking is an engineering methodology used to develop and evaluate novel concepts for systems operation. Here we articulate the need for a seamlessly integrated mobile health system to support genomic research as well as patient care. We also review the pathophysiology and management of primary ovarian insufficiency. Molecular understanding regarding the pathogenesis is essential to developing strategies for prevention, earlier diagnosis, and appropriate management of the disorder...
November 9, 2016: Panminerva Medica
https://www.readbyqxmd.com/read/27825737/profile-of-cognitive-function-in-adults-with-duchenne-muscular-dystrophy
#7
Yukihiko Ueda, Shugo Suwazono, Sino Maedo, Itsuro Higuchi
BACKGROUND: Several studies have examined intellectual functioning of boys with duchenne muscular dystrophy (DMD). However, little is known about the remaining cognitive weaknesses in adults with DMD. OBJECTIVE: The purpose of this study was to investigate the profile of cognitive functioning that is characteristics of adults with DMD. METHODS: Twenty-four subscales from the Wechsler Adult Intelligence Scale III (WAIS-III), the Clinical Assessment for Attention (CAT), and the Wechsler Memory Scale Revised (WMS-R) were used to assess participants with DMD (N=15; mean age=30...
November 5, 2016: Brain & Development
https://www.readbyqxmd.com/read/27815844/incidence-and-geographic-distribution-of-succinic-semialdehyde-dehydrogenase-ssadh-deficiency
#8
Savita Verma Attri, Pratibha Singhi, Natrujee Wiwattanadittakul, Jyotindra N Goswami, Naveen Sankhyan, Gajja S Salomons, Jean-Baptiste Roullett, Ryan Hodgeman, Mahsa Parviz, K Michael Gibson, Phillip L Pearl
The incidence of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive inherited disorder of GABA degradation, is unknown. Upon a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and our database was done to determine the number of confirmed cases along with their geographic distribution. The probands presented with global developmental delay, infantile onset epilepsy, and a persistent neurodevelopmental disorder upon diagnosis at 10 years of age with intellectual disability, expressive aphasia, and behavioral problems most prominent for hyperactivity...
November 5, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27784201/iodine-supplementation-in-women-during-preconception-pregnancy-and-lactation-current-clinical-practice-by-u-s-obstetricians-and-midwives
#9
Simone De Leo, Elizabeth N Pearce, Lewis E Braverman
BACKGROUND: Iodine deficiency is a major public health problem throughout the world, especially for pregnant women, and it is considered the most common cause of preventable intellectual impairment. In the United States, iodine status in pregnant women is considered mildly deficient. Therefore, the Endocrine Society, the American Thyroid Association, the Teratology Society, and the American Academy of Pediatrics recommend that women receive prenatal vitamins containing 150 µg of iodine daily during preconception, pregnancy, and lactation...
October 26, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27783798/self-reported-prevalence-of-disability-in-brazil-according-to-the-national-health-survey-2013
#10
Deborah Carvalho Malta, Sheila Rizzato Stopa, Rogerio Canuto, Nayara Lopes Gomes, Vera Lúcia Ferreira Mendes, Bárbara Niegia Garcia de Goulart, Lenildo de Moura
Objective: To describe the self-reported prevalence of intellectual disability, physical, hearing and visual, according to sociodemographic variables, degree of limitation and frequency of rehabilitation service use. Methods: Data from the National Health Survey, a population survey. the self-reported prevalence of physical, mental, visual and hearing were calculated and their 95% confidence intervals, stratified by sex, age, race / color, for Brazil, place of residence and Major Regions...
October 2016: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/27778465/improving-the-health-and-well-being-of-adults-with-conditions-of-a-genetic-origin-views-from-professionals-syndrome-support-groups-and-parents
#11
Marcus Redley, Merel Pannebakker, Anthony Holland
BACKGROUND: Advances in medical genetics herald the possibility that health and social care services could be more responsive to the needs arising from a person's genotype. This development may be particularly important for those men and women whose learning disability (known internationally as intellectual disability) is linked to a neurodevelopmental condition of genetic origin. METHOD: This possibility is tested through interviews with samples of (i) professional 'opinion former' with nationally recognised clinical and/or academic interests in learning disabilities and genetics; (ii) representatives of syndrome organisations prompting the interests of families where someone has a neurodevelopmental condition, and parent-members of these same organisations...
October 24, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/27773430/mutations-in-cradd-result-in-reduced-caspase-2-mediated-neuronal-apoptosis-and-cause-megalencephaly-with-a-rare-lissencephaly-variant
#12
Nataliya Di Donato, Ying Y Jean, A Murat Maga, Briana D Krewson, Alison B Shupp, Maria I Avrutsky, Achira Roy, Sarah Collins, Carissa Olds, Rebecca A Willert, Agnieszka M Czaja, Rachel Johnson, Jessi A Stover, Steven Gottlieb, Deborah Bartholdi, Anita Rauch, Amy Goldstein, Victoria Boyd-Kyle, Kimberly A Aldinger, Ghayda M Mirzaa, Anke Nissen, Karlla W Brigatti, Erik G Puffenberger, Kathleen J Millen, Kevin A Strauss, William B Dobyns, Carol M Troy, Robert N Jinks
Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. Trio-based whole-exome sequencing and targeted re-sequencing identified recessive mutations of CRADD in six individuals with TLIS from four unrelated families of diverse ethnic backgrounds. CRADD (also known as RAIDD) is a death-domain-containing adaptor protein that oligomerizes with PIDD and caspase-2 to initiate apoptosis...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27769316/neurodevelopmental-profile-in-angelman-syndrome-more-than-low-intelligence-quotient
#13
S Micheletti, F Palestra, P Martelli, P Accorsi, J Galli, L Giordano, V Trebeschi, E Fazzi
BACKGROUND: Angelman Syndrome (AS) is a rare neurodevelopment disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene. The aim of the study is to attempt at providing a detailed definition of neurodevelopmental profile in AS, with particular regard to motor, cognitive, communicative, behavioural and neurovisual, features by using standardized instruments. METHOD: A total of ten subjects aged from 5 to 11 years (4 males and 6 females) with molecular confirmed diagnosis of AS (7 15q11...
October 21, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27769300/a-homozygous-splicing-mutation-in-elac2-suggests-phenotypic-variability-including-intellectual-disability-with-minimal-cardiac-involvement
#14
Nadia A Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. RESULTS: We describe a highly inbred consanguineous Pakistani family with multiple affected children in 2 branches exhibiting moderately severe global developmental delay. Using homozygosity mapping, we mapped the phenotype in this family to a single locus on chromosome 17. In addition, whole-exome sequencing identified a homozygous splicing mutation (c...
October 21, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27767173/euchromatin-histone-methyltransferase-1-regulates-cortical-neuronal-network-development
#15
Marijn Bart Martens, Monica Frega, Jessica Classen, Lisa Epping, Elske Bijvank, Marco Benevento, Hans van Bokhoven, Paul Tiesinga, Dirk Schubert, Nael Nadif Kasri
Heterozygous mutations or deletions in the human Euchromatin histone methyltransferase 1 (EHMT1) gene cause Kleefstra syndrome, a neurodevelopmental disorder that is characterized by autistic-like features and severe intellectual disability (ID). Neurodevelopmental disorders including ID and autism may be related to deficits in activity-dependent wiring of brain circuits during development. Although Kleefstra syndrome has been associated with dendritic and synaptic defects in mice and Drosophila, little is known about the role of EHMT1 in the development of cortical neuronal networks...
October 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27759031/whole-exome-sequencing-identifies-novel-variants-in-pnpt1-causing-oxidative-phosphorylation-defects-and-severe-multisystem-disease
#16
Ahmad Alodaib, Nara Sobreira, Wendy A Gold, Lisa G Riley, Nicole J Van Bergen, Meredith J Wilson, Bruce Bennetts, David R Thorburn, Corinne Boehm, John Christodoulou
Recent advances in next-generation sequencing strategies have led to the discovery of many novel disease genes. We describe here a non-consanguineous family with two affected boys presenting with early onset of severe axonal neuropathy, optic atrophy, intellectual disability, auditory neuropathy and chronic respiratory and gut disturbances. Whole-exome sequencing (WES) was performed on all family members and we identified compound heterozygous variants (c.[760C>A];[1528G>C];p.[(Gln254Lys);(Ala510Pro)] in the polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene in both affected individuals...
October 19, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27743885/the-first-report-of-japanese-patients-with-asparagine-synthetase-deficiency
#17
Takahiro Yamamoto, Wakaba Endo, Hidenori Ohnishi, Kazuo Kubota, Norio Kawamoto, Takehiko Inui, Atsushi Imamura, Jun-Ichi Takanashi, Masaaki Shiina, Hirotomo Saitsu, Kazuhiro Ogata, Naomichi Matsumoto, Kazuhiro Haginoya, Toshiyuki Fukao
BACKGROUND: Asparagine synthetase (ASNS) deficiency was recently discovered as a metabolic disorder of non-essential amino acids, and presents as severe progressive microcephaly, intellectual disorder, dyskinetic quadriplegia, and intractable seizures. METHODS: Two Japanese children with progressive microcephaly born to unrelated patients were analyzed by whole exome sequencing and novel ASNS mutations were identified. The effects of the ASNS mutations were analyzed by structural evaluation and in silico predictions...
October 12, 2016: Brain & Development
https://www.readbyqxmd.com/read/27726050/mosaicism-in-atp1a3-related-disorders-not-just-a-theoretical-risk
#18
Marie Hully, Juliette Ropars, Laurence Hubert, Nathalie Boddaert, Marlene Rio, Mathieu Bernardelli, Isabelle Desguerre, Valerie Cormier-Daire, Arnold Munnich, Pascale de Lonlay, Louise Reilly, Claude Besmond, Nadia Bahi-Buisson
Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. In AHC, a few familial cases of autosomal dominant inheritance have been reported, along with cases of de novo sporadic mutations. In contrast, autosomal dominant inheritance has frequently been associated with RDP and CAPOS...
October 10, 2016: Neurogenetics
https://www.readbyqxmd.com/read/27725288/a-23-years-follow-up-study-identifies-glut1-deficiency-syndrome-initially-diagnosed-as-complicated-hereditary-spastic-paraplegia
#19
Marina Diomedi, Ziv Gan-Or, Fabio Placidi, Patrick A Dion, Anna Szuto, Mario Bengala, Guy A Rouleau, Gian Luigi Gigli
Glucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) was initially described in the early 90s as a sporadic clinical condition, characterized by seizures, motor and intellectual impairment with variable clinical presentation, and without a known genetic cause. Although causative mutations in SLC2A1 were later identified and much more is known about the disease, it still remains largely underdiagnosed. In the current study, a previously described Italian family was re-analyzed using whole exome sequencing and clinically re-evaluated...
October 7, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27707967/neuronal-dystroglycan-is-necessary-for-formation-and-maintenance-of-functional-cck-positive-basket-cell-terminals-on-pyramidal-cells
#20
Simon Früh, Jennifer Romanos, Patrizia Panzanelli, Daniela Bürgisser, Shiva K Tyagarajan, Kevin P Campbell, Mirko Santello, Jean-Marc Fritschy
: Distinct types of GABAergic interneurons target different subcellular domains of pyramidal cells, thereby shaping pyramidal cell activity patterns. Whether the presynaptic heterogeneity of GABAergic innervation is mirrored by specific postsynaptic factors is largely unexplored. Here we show that dystroglycan, a protein responsible for the majority of congenital muscular dystrophies when dysfunctional, has a function at postsynaptic sites restricted to a subset of GABAergic interneurons...
October 5, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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