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Phenotypic variation and FMRP levels in fragile X
Wiley - Tập 10 Số 1 - Trang 31-41 - 2004
Danuta Z. Loesch, Richard Huggins, Randi J. Hagerman
AbstractData on the relationships between cognitive and physical phenotypes, and a deficit of fragile X mental retardation 1 (FMR1) gene‐specific protein product, FMRP, are presented and discussed in context with earlier findings. The previously unpublished results obtained, using standard procedures of regression and correlations, showed highly significant associa...... hiện toàn bộ
Correlates across the structural, functional, and molecular phenotypes of fragile X syndrome
Wiley - Tập 10 Số 1 - Trang 53-59 - 2004
Andrea Beckel‐Mitchener, William T. Greenough
AbstractFragile X syndrome (FXS) is characterized by a pattern of morphological, functional, and molecular characteristics with, in at least some cases, apparent relationships among phenotypic features at different levels. Gross morphology differences in the sizes of some human brain regions are accompanied by fine structural alterations in the shapes and in the nu...... hiện toàn bộ
Psychopharmacology in fragile X syndrome—Present and future
Wiley - Tập 10 Số 1 - Trang 42-48 - 2004
Elizabeth Berry‐Kravis, Kristina Potanos
AbstractIn addition to cognitive disability, fragile X syndrome (FXS) is associated with behavioral problems that are often functionally limiting. There are few controlled trials to guide treatment; however, available information does suggest that medications can be quite helpful for a number of categories of behavioral disturbance in FXS. Specifically, stimulants ...... hiện toàn bộ
The neuroanatomy and neuroendocrinology of fragile X syndrome
Wiley - Tập 10 Số 1 - Trang 17-24 - 2004
David Hessl, Susan M. Rivera, Allan L. Reiss
AbstractFragile X syndrome (FXS), caused by a single gene mutation on the X chromosome, offers a unique opportunity for investigation of gene–brain–behavior relationships. Recent advances in molecular genetics, human brain imaging, and behavioral studies have started to unravel the complex pathways leading to the cognitive, psychiatric, and physical features that a...... hiện toàn bộ
Early intervention after universal neonatal hearing screening: Impact on outcomes
Wiley - Tập 9 Số 4 - Trang 252-266 - 2003
Christine Yoshinaga-Itano
AbstractThis article summarizes the developmental outcomes of Colorado children with significant hearing loss. Some of the research compares children born in hospitals that have implemented universal newborn hearing screening programs for newborns. Other research compares the developmental outcomes of children who have been early‐identified with hearing loss. Early...... hiện toàn bộ
Conceptualization and measurement of family outcomes associated with families of individuals with intellectual disabilities
Wiley - Tập 13 Số 4 - Trang 346-356 - 2007
Ann P. Turnbull, Jean Ann Summers, Jimin Lee, Kathleen Kyzar
AbstractThe purpose of this review is to (a) document the current status of conceptualizing and measuring family outcomes related to having a member with an intellectual disability and (b) determine the extent to which family research focuses on internal family characteristics as contrasted to external family support. The reviewers collected 28 articles using the t...... hiện toàn bộ
Cognitive and neuropsychological outcomes: More than IQ scores
Wiley - Tập 8 Số 4 - Trang 234-240 - 2002
Glen P. Aylward
AbstractImproved survival in preterm infants has broadened interest in cognitive and neuropsychological outcomes. The incidence of major disabilities (moderate/severe mental retardation, neurosensory disorders, epilepsy, cerebral palsy) has remained consistent, but high prevalence/low severity dysfunctions (learning disabilities, ADHD, borderline mental retardation...... hiện toàn bộ
Toward a developmental neurobiology of autism
Wiley - Tập 10 Số 4 - Trang 303-317 - 2004
Franck Polleux, Jean M. Lauder
AbstractAutism is a complex, behaviorally defined, developmental brain disorder with an estimated prevalence of 1 in 1,000. It is now clear that autism is not a disease, but a syndrome with a strong genetic component. The etiology of autism is poorly defined both at the cellular and the molecular levels. Based on the fact that seizure activity is frequently associa...... hiện toàn bộ
Apoptosis and brain development
Wiley - Tập 7 Số 4 - Trang 261-266 - 2001
Kevin A. Roth, Cleta D’Sa
AbstractNeuronal cell death in the embryonic brain was first recognized almost a century ago. Its significance for normal nervous system development and function has been a major focus of neuroscientific investigation ever since. Remarkable progress has been made in defining the cellular processes controlling neuronal cell death and studies performed over the last ...... hiện toàn bộ
Psychiatric and behavioral disorders in persons with Down syndrome
Wiley - Tập 13 Số 3 - Trang 272-278 - 2007
Elisabeth M. Dykens
AbstractSimilar to the state of the broader intellectual disabilities field, many gaps exist in the research and treatment of mental health concerns in people with Down syndrome. This review summarizes key findings on the type and prevalence of behavior and emotional problems in children, adolescents, and adults with Down syndrome. Such findings include relatively ...... hiện toàn bộ
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