Periventricular nodular heterotopia and Miller-Dieker syndrome are two different disorders of brain development. Miller-Dieker syndrome exhibits classical lissencephaly and is related to defects in the lissencephaly gene ("LIS1"). Periventricular nodular heterotopia is characterized by aggregates of grey matter adjacent to the lateral ventricle…

Clinical trials targeting recently elucidated synaptic defects in fragile X syndrome (FXS) will require outcome measures capable of assessing short-term changes in cognitive functioning. Potentially useful measures for FXS were evaluated here in a test-retest setting in males and females with FXS (N = 46). Good reproducibility, determined by an…

A rare disease or condition is defined by federal legislation such that it: (1) affects less than 200,000 persons in the U.S.; or (2) affects more than 200,000 persons in the U.S. but for which there is no reasonable expectation that the cost of developing and making available in the U.S. a drug for such disease or condition will be recovered from…

Background: The oligophrenin 1 gene ("OPHN1") is an Rho-GTPase-activating protein involved in the regulation of the G-protein cycle required for dendritic spine morphogenesis. Mutations in this gene are implicated in X-linked mental retardation (XLMR). Methods: We report a deletion spanning exons 21 and 22 of the "OPHN1" gene identified by a…

Chapters in this book include: (1) New e-Learning Environments: e-Merging Networks in the Relational Society (Blanca C. Garcia); (2) Knowledge Building in E-Learning (Xinyu Zhang and Lu Yuhao); (3) E-Learning and Desired Learning Outcomes (Ralph Palliam); (4) Innovative E-Learning Solutions and Environments for Small and Medium Sized Companies…

The goal of this study is to understand the effective learning of the iPad and the use of the system to assist elementary-age students with learning. The research literature promotes different types of assistive technology used for learning and suggests a few applications to use for the iPad. Four students with autism learned to use an iPad tablet…

Learning centers can help teachers assess students' content knowledge without penalizing them for language barriers. With the increasing number of English language learners (ELLs) in classrooms, the emphasis on mastery of content and inclusion of all students in class discussions and activities will provide all students a chance for scientific…

The current study used factor analysis to assess the degree to which personality characteristics derived from different theories signify the same latent personality constructs, and biometric modeling to understand the genetic and environmental structure of these constructs. Participants were drawn from the Twin and Offspring Study in Sweden…

Sustained attention is modulated by the neurotransmitter noradrenaline. The balance of dopamine and noradrenaline in the cortex is controlled by the DBH gene. The principal variant in this gene is a C/T change at position-1021, and the T allele at this locus is hypothesised to result in a slower rate of dopamine to noradrenaline conversion than…

This article presents an interview with Henry Louis Gates, Jr., Harvard professor and cultural critic who has captured 25 million viewers with his PBS documentary series, African American Lives (WNET). Using genealogical research and DNA science, Gates traces the family history of 19 famous African Americans. What results is a rich and moving…

Recursive partitioning methods have become popular and widely used tools for nonparametric regression and classification in many scientific fields. Especially random forests, which can deal with large numbers of predictor variables even in the presence of complex interactions, have been applied successfully in genetics, clinical medicine, and…

We explored the genetic background of individual differences in dynamic measures of verbal learning ability in children, using a Dutch version of the Auditory Verbal Learning Test (AVLT). Nine-year-old twin pairs (N = 112 pairs) were recruited from the Netherlands Twin Register. When possible, an older sibling between 10 and 14 years old…

The introduction of dwarfing traits into crops was a major factor in increased grain yields during the "Green Revolution." In most cases those traits were the consequence of altered synthesis or response to the gibberellin (GA) plant hormones. Our current understanding of GA synthesis and physiology has been facilitated by the characterization of…

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting 36 in 100,000 people. CMT type 1A (hereditary motor and sensory neuropathy) is the most frequent form of this disease, affecting 60 to 80% of the CMT population, but its diagnosis may be delayed because of inconsistent clinical signs and…

The GluA1 AMPA receptor subunit is a key mediator of hippocampal synaptic plasticity and is especially important for a rapidly-induced, short-lasting form of potentiation. GluA1 gene deletion impairs hippocampus-dependent, spatial working memory, but spares hippocampus-dependent spatial reference memory. These findings may reflect the necessity of…