Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by a defect in glucose transport across the blood-brain barrier. The main symptoms are epilepsy, developmental delay, movement disorders, and deceleration of head circumference. A ketogenic diet has been shown to be effective in controlling epilepsy in GLUT1-DS. We report a female…

Open-ended, inquiry-based multiweek laboratory exercises are the key elements to increasing students' understanding and retention of the major biological concepts. Including original research into undergraduate teaching laboratories has also been shown to motivate students and improve their learning. Here, we present a series of original…

Each year, an increasing number of children are born through surrogacy and thus lack a genetic and/or gestational link with their mother. This study examined the impact of surrogacy on mother-child relationships and children's psychological adjustment. Assessments of maternal positivity, maternal negativity, mother-child interaction, and child…

In a German out-of-school laboratory, 293 medium-achieving 10th-grade students participated in a lesson unit about gene technology. They were divided into two groups (I-1, I-2), both of which followed the same hands-on lesson procedure. Students within I-2 were additionally confronted with alternative conceptions to central issues of the specific…

The past century has seen vast improvements in our children's health. The infectious diseases that once killed huge numbers of children have largely been conquered. Infant mortality has also fallen markedly, although the United States lags behind other industrialized nations in this and other measures of children's health. Accidents and injuries…

Purpose: "Duchenne muscular dystrophy (DMD)" is caused by the loss of the cytoskeletal protein, dystrophin. The disease leads to severe and progressive skeletal muscle wasting. Interestingly, the disease spares some muscles. The purpose of the study was to determine the effects of dystrophin deficiency on 2 intrinsic laryngeal muscles, the…

Fragile X syndrome, the most common form of inherited mental retardation is discussed. The relationship between specific impairments in synaptic plasticity and Fragile X syndrome is investigated as it strengthens synaptic contacts between neurons.

Students examine issues surrounding genetic databanks and work in groups to create a biobank of their own, which they write about and illustrate.

Objective: To provide an overview of the genetic epidemiology of substance use and misuse in adolescents. Method: A selective review of genetically informative research strategies, their limitations, and key findings examining issues related to the heritability of substance use and substance use disorders in children and adolescents is presented.…

Objective: To study white matter (WM) development in youth at high familial risk for bipolar disorder (BD). WM alterations are reported in youth and adults with BD. WM undergoes important maturational changes in adolescence. Age-related changes in WM microstructure using diffusion tensor imaging with tract-based spatial statistics in healthy…

The ability to track moving objects, a crucial skill for mature performance on everyday spatial tasks, has been hypothesized to require a specialized mechanism that may be available in infancy (i.e. indexes). Consistent with the idea of specialization, our previous work showed that object tracking was more impaired than a matched spatial memory…

Personality traits may be viable candidates for mediators of the relationship between genetic risk and ADHD. Participants were 578 children (331 boys; 320 children with ADHD) between the ages of six and 18. Parents and teachers completed a comprehensive, multi-stage diagnostic procedure to assess ADHD and comorbid disorders. Mother completed the…

Previous studies reported impaired visual information processing in patients with fragile x syndrome and in premutation carriers. In this study, we assessed the perception of biological motion (a walking point-light character) and mechanical motion (a rotating shape) in 25 female fragile x premutation carriers and in 20 healthy non-carrier…

We have studied a family with severe mental retardation characterized by the virtual absence of speech, autism spectrum disorder, epilepsy, late-onset ataxia, weakness and dystonia. Post-mortem examination of two males revealed widespread neuronal loss, with the most striking finding being neuronal and glial tau deposition in a pattern reminiscent…

Several recent studies have demonstrated a genetical overlap between autism and schizophrenia. However, at a behavioral level it remains unclear which features can validly distinguish adults with autism from an adult schizophrenia group. To this end, the present study compared 21 individuals with the autistic disorder and 21 individuals with…