Wiley
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Phenotypic variation and FMRP levels in fragile X
Wiley - Tập 10 Số 1 - Trang 31-41 - 2004
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previously unpublished results obtained, using standard procedures of regression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 associations in males between FMRP
level...
Correlates across the structural, functional, and molecular phenotypes of fragile X syndrome
Wiley - Tập 10 Số 1 - Trang 53-59 - 2004
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 numbers of dendritic spines in
both...
Psychopharmacology in fragile X syndrome—Present and future
Wiley - Tập 10 Số 1 - Trang 42-48 - 2004
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 appear to be quite
useful for man...
The neuroanatomy and neuroendocrinology of fragile X syndrome
Wiley - Tập 10 Số 1 - Trang 17-24 - 2004
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 are unique to this syndrome.
In th...
Early intervention after universal neonatal hearing screening: Impact on outcomes
Wiley - Tập 9 Số 4 - Trang 252-266 - 2003
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‐identification is defined as
ide...
Conceptualization and measurement of family outcomes associated with families of individuals with intellectual disabilities
Wiley - Tập 13 Số 4 - Trang 346-356 - 2007
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 terms well‐being,
adaptation, fami...
Cognitive and neuropsychological outcomes: More than IQ scores
Wiley - Tập 8 Số 4 - Trang 234-240 - 2002
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, specific
neuropsychological def...
Toward a developmental neurobiology of autism
Wiley - Tập 10 Số 4 - Trang 303-317 - 2004
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 associated with autism and that
abnormal...
Apoptosis and brain development
Wiley - Tập 7 Số 4 - Trang 261-266 - 2001
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 ten years have revealed extensive...
Psychiatric and behavioral disorders in persons with Down syndrome
Wiley - Tập 13 Số 3 - Trang 272-278 - 2007
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 low rates of severe
problems in c...
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