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https://www.readbyqxmd.com/read/27880914/neuronal-ctcf-is-necessary-for-basal-and-experience-dependent-gene-regulation-memory-formation-and-genomic-structure-of-bdnf-and-arc
#1
Dev Sharan Sams, Stefano Nardone, Dmitriy Getselter, Dana Raz, Moran Tal, Prudhvi Raj Rayi, Hanoch Kaphzan, Ofir Hakim, Evan Elliott
CCCTC-binding factor (CTCF) is an organizer of higher-order chromatin structure and regulates gene expression. Genetic studies have implicated mutations in CTCF in intellectual disabilities. However, the role of CTCF-mediated chromatin structure in learning and memory is unclear. We show that depletion of CTCF in postmitotic neurons, or depletion in the hippocampus of adult mice through viral-mediated knockout, induces deficits in learning and memory. These deficits in learning and memory at the beginning of adulthood are correlated with impaired long-term potentiation and reduced spine density, with no changes in basal synaptic transmission and dendritic morphogenesis and arborization...
November 22, 2016: Cell Reports
https://www.readbyqxmd.com/read/27870114/the-molecular-genetics-of-autosomal-recessive-nonsyndromic-intellectual-disability-a-mutational-continuum-and-future-recommendations
#2
REVIEW
Muzammil Ahmad Khan, Saadullah Khan, Christian Windpassinger, Muhammad Badar, Zafar Nawaz, Ramzi M Mohammad
Intellectual disability (ID) is a clinical manifestation of the central nervous system without any major dysmorphologies of the brain. Biologically it affects learning capabilities, memory, and cognitive functioning. The basic defining features of ID are characterized by IQ<70, age of onset before 18 years, and impairment of at least two of the adaptive skills. Clinically it is classified in a syndromic (with additional abnormalities) and a nonsyndromic form (with only cognitive impairment). The study of nonsyndromic intellectual disability (NSID) can best explain the pathophysiology of cognition, intelligence and memory...
November 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27859682/a-method-for-integrating-neuroimaging-into-genetic-models-of-learning-performance
#3
Chintan M Mehta, Jeffrey R Gruen, Heping Zhang
Specific learning disorders (SLD) are an archetypal example of how clinical neuropsychological (NP) traits can differ from underlying genetic and neurobiological risk factors. Disparate environmental influences and pathologies impact learning performance assessed through cognitive examinations and clinical evaluations, the primary diagnostic tools for SLD. We propose a neurobiological risk for SLD with neuroimaging biomarkers, which is integrated into a genome-wide association study (GWAS) of learning performance in a cohort of 479 European individuals between 8 and 21 years of age...
November 18, 2016: Genetic Epidemiology
https://www.readbyqxmd.com/read/27783067/developmental-timing-and-critical-windows-for-the-treatment-of-psychiatric-disorders
#4
Oscar Marín
There is a growing understanding that pathological genetic variation and environmental insults during sensitive periods in brain development have long-term consequences on brain function, which range from learning disabilities to complex psychiatric disorders such as schizophrenia. Furthermore, recent experiments in animal models suggest that therapeutic interventions during sensitive periods, typically before the onset of clear neurological and behavioral symptoms, might prevent or ameliorate the development of specific pathologies...
October 26, 2016: Nature Medicine
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
#5
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/27748007/numerical-magnitude-processing-impairments-in-genetic-syndromes-a-cross-syndrome-comparison-of-turner-and-22q11-2-deletion-syndromes
#6
Carmen Brankaer, Pol Ghesquière, Anke De Wel, Ann Swillen, Bert De Smedt
Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion syndrome (22q11DS). We further verified whether the phenotypic outcomes of these syndromes emerged from the same or different cognitive processes and therefore examined whether numerical impairments were related to working memory deficits, often observed in these syndromes...
October 17, 2016: Developmental Science
https://www.readbyqxmd.com/read/27708714/the-presence-of-two-rare-genomic-syndromes-1q21-deletion-and-xq28-duplication-segregating-independently-in-a-family-with-intellectual-disability
#7
Kyungsoo Ha, Yiping Shen, Tyler Graves, Cheol-Hee Kim, Hyung-Goo Kim
BACKGROUND: 1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysmorphism, microcephaly, cardiac abnormalities, and cataracts. MECP2 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by intellectual disability, global developmental delay, and other neurological complications including late-onset seizures...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27668670/health-status-among-adults-born-with-an-oral-cleft-in-norway
#8
Erik Berg, Øystein A Haaland, Kristin B Feragen, Charles Filip, Hallvard A Vindenes, Dag Moster, Rolv T Lie, Åse Sivertsen
Importance: Parents regularly express concern about long-term health outcomes for children who are born with an oral cleft. Objective: To assess whether oral clefts affect the health and ability to work of young adults. Design, Setting, and Participants: A population-based cohort study was conducted on all individuals born in Norway between calendar years 1967 and 1992 (n = 1 490 401). All patients treated for clefts in Norway during the study period were invited to participate (n = 2860)...
September 26, 2016: JAMA Pediatrics
https://www.readbyqxmd.com/read/27644018/expanding-the-phenotype-of-triple-x-syndrome-a-comparison-of-prenatal-versus-postnatal-diagnosis
#9
Kristen Wigby, Cheryl D'Epagnier, Susan Howell, Amy Reicks, Rebecca Wilson, Lisa Cordeiro, Nicole Tartaglia
Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing...
November 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27625067/medical-undergraduate-primary-care-teaching-across-the-uk-what-is-being-taught
#10
Veronica Boon, Matthew Ridd, Andrew Blythe
BACKGROUND: All UK medical schools use primary care settings to deliver their undergraduate courses. However there is no national undergraduate curriculum for primary care and it is thought that the learning objectives of primary care teaching vary considerably between medical schools. AIM: The overall aim was to establish what is being taught within and by primary care across UK medical schools. We did this by collating learning objectives from the primary care department at each school...
September 14, 2016: Education for Primary Care
https://www.readbyqxmd.com/read/27594048/a-heterozygous-mutation-in-tubulin-beta-2b-tubb2b-causes-cognitive-deficits-and-hippocampal-disorganization
#11
Rolf W Stottmann, Ashley Driver, Arnold Gutierrez, Matthew R Skelton, Michael Muntifering, Christopher Stepien, Luke Knudson, Matthew Kofron, Charles V Vorhees, Michael T Williams
Development of the mammalian forebrain requires a significant contribution from tubulin proteins to physically facilitate both the large number of mitoses in the neurogenic brain (in the form of mitotic spindles) as well as support cellular scaffolds to guide radial migration (radial glial neuroblasts). Recent studies have identified a number of mutations in human tubulin genes affecting the forebrain, including TUBB2B . We previously identified a mouse mutation in Tubb2b and we show here that mice heterozygous for this missense mutation in Tubb2b have significant cognitive defects in spatial learning and memory...
September 4, 2016: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/27561086/eliciting-preferences-on-secondary-findings-the-preferences-instrument-for-genomic-secondary-results
#12
Kyle B Brothers, Kelly M East, Whitley V Kelley, M Frances Wright, Matthew J Westbrook, Carla A Rich, Kevin M Bowling, Edward J Lose, E Martina Bebin, Shirley Simmons, John A Myers, Greg Barsh, Richard M Myers, Greg M Cooper, Jill M Pulley, Mark A Rothstein, Ellen Wright Clayton
PURPOSE: Eliciting and understanding patient and research participant preferences regarding return of secondary test results are key aspects of genomic medicine. A valid instrument should be easily understood without extensive pretest counseling while still faithfully eliciting patients' preferences. METHODS: We conducted focus groups with 110 adults to understand patient perspectives on secondary genomic findings and the role that preferences should play. We then developed and refined a draft instrument and used it to elicit preferences from parents participating in a genomic sequencing study in children with intellectual disabilities...
August 25, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27550556/examining-the-relationship-between-home-literacy-environment-and-neural-correlates-of-phonological-processing-in-beginning-readers-with-and-without-a-familial-risk-for-dyslexia-an-fmri-study
#13
Sara J Powers, Yingying Wang, Sara D Beach, Georgios D Sideridis, Nadine Gaab
Developmental dyslexia is a language-based learning disability characterized by persistent difficulty in learning to read. While an understanding of genetic contributions is emerging, the ways the environment affects brain functioning in children with developmental dyslexia are poorly understood. A relationship between the home literacy environment (HLE) and neural correlates of reading has been identified in typically developing children, yet it remains unclear whether similar effects are observable in children with a genetic predisposition for dyslexia...
October 2016: Annals of Dyslexia
https://www.readbyqxmd.com/read/27473762/nosological-delineation-of-congenital-ocular-motor-apraxia-type-cogan-an-observational-study
#14
Sarah Wente, Simone Schröder, Johannes Buckard, Hans-Martin Büttel, Florian von Deimling, Wilfried Diener, Martin Häussler, Susanne Hübschle, Silvia Kinder, Gerhard Kurlemann, Christoph Kretzschmar, Michael Lingen, Wiebke Maroske, Dirk Mundt, Iciar Sánchez-Albisua, Jürgen Seeger, Sandra P Toelle, Eugen Boltshauser, Knut Brockmann
BACKGROUND: The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man catalog of genetic disorders, others consider COMA merely a clinical symptom. METHODS: We performed a retrospective multicenter data collection study with re-evaluation of clinical and neuroimaging data of 21 previously unreported patients (8 female, 13 male, ages ranging from 2 to 24 years) diagnosed as having COMA...
2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27445952/learning-disabilities-in-extremely-low-birth-weight-children-and-neurodevelopmental-profiles-at-preschool-age
#15
Chiara Squarza, Odoardo Picciolini, Laura Gardon, Maria L Giannì, Alessandra Murru, Silvana Gangi, Ivan Cortinovis, Silvano Milani, Fabio Mosca
At school age extremely low birth weight (ELBW) and extremely low gestational age (ELGAN) children are more likely to show Learning Disabilities (LDs) and difficulties in emotional regulation. The aim of this study was to investigate the incidence of LDs at school age and to detect neurodevelopmental indicators of risk for LDs at preschool ages in a cohort of ELBW/ELGAN children with broadly average intelligence. All consecutively newborns 2001-2006 admitted to the same Institution entered the study. Inclusion criteria were BW < 1000 g and/or GA < 28 weeks...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27385793/cognitive-dysfunction-in-duchenne-muscular-dystrophy-a-possible-role-for-neuromodulatory-immune-molecules
#16
REVIEW
Mark G Rae, Dervla O'Malley
Duchenne muscular dystrophy (DMD) is an X chromosome-linked disease characterized by progressive physical disability, immobility, and premature death in affected boys. Underlying the devastating symptoms of DMD is the loss of dystrophin, a structural protein that connects the extracellular matrix to the cell cytoskeleton and provides protection against contraction-induced damage in muscle cells, leading to chronic peripheral inflammation. However, dystrophin is also expressed in neurons within specific brain regions, including the hippocampus, a structure associated with learning and memory formation...
September 1, 2016: Journal of Neurophysiology
https://www.readbyqxmd.com/read/27380502/transmission-of-risk-from-parents-with-chronic-pain-to-offspring-an-integrative-conceptual-model
#17
Amanda L Stone, Anna C Wilson
Offspring of parents with chronic pain are at increased risk for pain and adverse mental and physical health outcomes (Higgins et al, 2015). Although the association between chronic pain in parents and offspring has been established, few studies have addressed why or how this relation occurs. Identifying mechanisms for the transmission of risk that leads to the development of chronic pain in offspring is important for developing preventive interventions targeted to decrease risk for chronic pain and related outcomes (eg, disability and internalizing symptoms)...
May 31, 2016: Pain
https://www.readbyqxmd.com/read/27378259/-myotonic-dystrophy-in-children-how-can-you-recognise-the-symptoms-in-a-child-and-in-family-members
#18
K Bonouvrié, B Panis
Myotonic dystrophy type 1 is an autosomal dominant disease, which affects multiple organ systems. Clinical symptoms in young children are non-specific, and include learning disabilities, behavioural problems and fatigue. Myotonic dystrophy type 1 is characterised by the phenomenon "anticipation": the occurrence of increasing severity of disease and lower age of onset in successive generations. Early diagnosis and treatment of early-onset symptoms in the patient and in family members is essential. Genetic counselling of all family members regarding hereditary risks is important...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27312842/fragile-x-premutation-carrier-epidemiology-and-symptomatology-in-israel-results-from-a-tertiary-child-developmental-center
#19
Lidia V Gabis, Noah Gruber, Michal Berkenstadt, Shahar Shefer, Odelia Leon Attia, Dana Mula, Yoram Cohen, Shai E Elizur
Fragile X syndrome (FXS) is the most prevalent known genetically inherited cause for autism and intellectual disability. Premutation state can cause several clinical disorders as well. We aimed to perform a nesting approach to acquire data with regard to first degree relatives of index fragile X cases at the largest child development center in Israel in order to map characteristics of Israeli FXS permutation women carriers. Seventy-nine women were referred due to a related fragile X syndrome patient, mainly an offspring or sibling...
October 2016: Cerebellum
https://www.readbyqxmd.com/read/27256137/how-genetics-might-affect-real-property-rights-currents-in-contemporary-bioethics
#20
Mark A Rothstein, Laura Rothstein
New developments in genetics could affect a variety of real property rights. Mortgage lenders, mortgage insurers, real estate sellers, senior living centers, retirement communities, or other parties in residential real estate transactions begin requiring predictive genetic information as part of the application process. One likely use would be by retirement communities to learn an individual's genetic risk for Alzheimer's disease. The federal Fair Housing Act prohibits discrimination based on disability, but it is not clear that it would apply to genetic risk assessments...
March 2016: Journal of Law, Medicine & Ethics: a Journal of the American Society of Law, Medicine & Ethics
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