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learning disability genetic

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
H Kuusisto, T Vahvelainen, P Hämäläinen, T Luukkaala, I Elovaara
BACKGROUND: Cognitive impairment develops in some MS patients at any time during the course of the disease regardless of whether the patients have neurological disability or not. Underlying causes for the MS related cognitive decline are yet poorly understood but both genetic and environmental risk factors have been proposed. OBJECTIVES: To assess whether the cognitive performance differs between subjects with multiple sclerosis (MS) and their asymptomatic co-twins...
June 15, 2016: Journal of the Neurological Sciences
Nadia Akawi, Salma Ben-Salem, Laura Lahti, Juha Partanen, Bassam R Ali, Lihadh Al-Gazali
Clinical classification of overgrowth syndromes represents a challenge since a wide spectrum of disorders result in marked overgrowth. Therefore, there is a continuous effort to identify the genetic basis of these disorders that will eventually facilitate their molecular classification. Here, we have identified the genetic etiology and the pathogenetic mechanism underlying a rare autosomal recessive overgrowth syndrome in three affected siblings. The overgrowth phenotype in the patients was accompanied by developmental delay, learning disabilities, and variable congenital abnormalities...
August 2016: American Journal of Medical Genetics. Part A
Zhi Yi, Hong Pan, Lin Li, Hairong Wu, Songtao Wang, Yinan Ma, Yu Qi
INTRODUCTION: Chromosome Xq28 duplications encompassing methyl-CpG-binding protein 2 gene (MECP2) are observed most in males with a severe neurodevelopmental disorder associated with hypotonia, spasticity, severe learning disability, delayed psychomotor development, and recurrent pulmonary infections. Most female carriers are asymptomatic due to extremely or completely skewed X-inactivation. METHODS: A retrospective clinical and molecular study was conducted to examine 16 patients and two fetuses from 10 families who were identified among patients with Xq28 duplications who presented at genetic clinics...
May 11, 2016: European Journal of Medical Genetics
Hoda Mehregan, Hossein Najmabadi, Kimia Kahrizi
 Intellectual Disability (ID, also known as mental retardation) is a debilitating neurodevelopmental disorder affecting nearly 1% of the general population worldwide. Occurrence of behavioral disorders in individuals with ID is four times higher than that in the general population. An increasing number of studies seek to find a common pathway to elucidate brain structure/function and its contribution to behavior. This article deals with different behavioral disorders reported in individuals with syndromic and non-syndromic ID and possible candidate genes, most of which are involved in synaptic formation and function...
May 2016: Archives of Iranian Medicine
Francesco Papaleo, Feng Yang, Clare Paterson, Sara Palumbo, Gregory V Carr, Yanhong Wang, Kirsten Floyd, Wenwei Huang, Craig J Thomas, Jingshan Chen, Daniel R Weinberger, Amanda J Law
UNLABELLED: Schizophrenia is a chronic, disabling neuropsychiatric disorder with complex genetic origins. The development of strategies for genome manipulation in rodents provides a platform for understanding the pathogenic role of genes and for testing novel therapeutic agents. Neuregulin 1 (NRG1), a critical developmental neurotrophin, is associated with schizophrenia. The NRG1 gene undergoes extensive alternative splicing and, to date, little is known about the neurobiology of a novel NRG1 isoform, NRG1-IV, which is increased in the brains of individuals with schizophrenia and associated with genetic risk variation...
April 27, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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