Gene therapy using recombinant adeno-associated viral vectors overexpressing neuropeptide Y in the hippocampus exerts seizure-suppressant effects in rodent epilepsy models and is currently considered for clinical application in patients with intractable mesial temporal lobe epilepsy. Seizure suppression by neuropeptide Y in the hippocampus is…

Mutations in nuclear and mitochondrial DNA impacting mitochondrial function result in disease manifestations ranging from early death to abnormalities in all major organ systems and to symptoms that can be largely confined to muscle fatigue. The definitive diagnosis of a mitochondrial disorder can be difficult to establish. When the constellation…

Fragile X Syndrome is a neurodevelopmental disorder that is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation 1 ("FMR1") gene. In recent years, the premutation ("carrier") status has received considerable attention and there is now an emerging consensus that despite intellectual functioning being within…

To improve understanding about genetic and environmental influences on antisocial behavior (ASB), we tested the association of the 44-base pair polymorphism of the serotonin transporter gene (5-HTTLPR) and maltreatment using latent class analysis in 2,488 boys and girls from Wave 1 of the National Longitudinal Study of Adolescent Health. In boys,…

We examined auditory perception in Williams syndrome by investigating strategies used in organizing sound patterns into coherent units. In Experiment 1, we investigated the streaming of sound sequences into perceptual units, on the basis of pitch cues, in a group of children and adults with Williams syndrome compared to typical controls. We showed…

Genetic variability related to the catechol-O-methyltransferase (COMT) gene Val[superscript 128]Met polymorphism) has received increasing attention as a possible modulator of cognitive control functions. Recent evidence suggests that the Val[superscript 128]Met genotype may differentially affect cognitive stability and flexibility, in such a way…

A cognitive phenotype is a product of both assets and deficits that specifies what individuals with spina bifida meningomyelocele (SBM) can and cannot do and why they can or cannot do it. In this article, we review the cognitive phenotype of SBM and describe the processing assets and deficits that cut within and across content domains, sensory…

The reading skills of a girl with Williams Syndrome are assessed by a timed word-naming task. To test the efficiency of lexical and nonlexical reading, we considered four marker effects: Lexicality (better reading of words than nonwords), frequency (better reading of high than low frequency words), length (better reading of short than long words),…

We report the case of a 34-year-old female resulting from a father-daughter sexual abuse and presenting a phenotype of mild intellectual disability with minor dysmorphic features. Karyotyping showed a normal 46, XX constitution. Array-based comparative genomic hybridization (array-CGH) revealed a heterozygote 320kb 6p22.3 microdeletion in the…

Genetics is a unifying theme of biology that poses a major challenge for students across a wide range of post-secondary institutions, because it entails complex problem solving. This article reports a new intelligent learning environment called the Genetics Cognitive Tutor, which supports genetics problem solving. The tutor presents complex,…

Children with Williams syndrome (WS) have been reported to often face problems in daily communication and to have deficits in their pragmatic language abilities. To test this hypothesis, we examined whether children with WS could modify their verbal communication according to others' attention in order to share what they did. The children with WS…

Multiliteracies: Beyond Text and the Written Word emphasizes literacies which are, or have been, common in American culture, but which tend to be ignored in more traditional discussions of literacy--specifically textual literacy. By describing multiliteracies or alternative literacies, and how they function, the authors have tried to develop a…

Objective: Pediatrician is the first contact in the Pathway to Care in children with Mental retardation (MR). Following the recent advancements in the area of molecular genetics, understanding of specific conditions of MR or Developmental Delay (DD) is expanding. Hypothyroidism is a treatable metabolic/endocrinological cause of MR. The aim of this…

In this study we describe the support provided by a biology teacher during learning using a web-based research simulation that makes use of authentic research practices in genetics, including the use of a heuristic strategy to compare mutated and normal versions of a character at all the organisational levels. Authentic scientific practices…

DSM-IV distinguishes two symptom domains of attention deficit hyperactivity disorder (ADHD): inattentiveness and hyperactivity-impulsivity. The present study examines the aetiologies and developmental relations underlying the associations between inattentiveness and hyperactivity-impulsivity over time, based on a representative population sample…