Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome (PWS/AS) critical region have been described in individuals with autism. Maternal duplications and linkage disequilibrium in families with autism suggest the existence of a susceptibility locus at 15q11-q13. Here, we describe a 6-year-old girl diagnosed with autism, developmental…

Many college science educators have moved away from the traditional lecture format and toward learner-centered classroom environments. Yet many of us struggle to cover large content loads, reverting at times to rote memorization. This paper suggests rote memorization simply does not work and students must be actively engaged to learn. (Contains 1…

Specific types and subtypes of cardiac defects have been described in children with 22q11.2 deletion syndrome as well as in other genetic syndromes. The conotruncal heart defects occurring in patients with 22q11.2 deletion syndrome include tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic…

Longitudinal twin data were analyzed to investigate the etiology of the stability of genetic and environmental influences on word reading and reading comprehension, as well as the stability of those influences on their relationship. Participating twin pairs were initially tested at a mean age of 10.3 years, and retested approximately five years…

Fluctuating asymmetry (FA) is the non-pathological left-right asymmetry of body traits that are usually left-right symmetrical, such as eye breadths and elbow to wrist lengths in humans, but which can be affected by developmental stressors. It is generally considered throughout biology to be an indicator of developmental instability and thus of…

A major finding of comparative genomics and developmental genetics is that metazoans share certain conserved, embryonically deployed signaling pathways that instruct cells as to their ultimate fate. Because the DNA encoding these pathways predates the evolutionary split of most animal groups, it should in principle be possible to clone…

Although genetic influences on individual differences in activity level (AL) are well documented, few studies have considered the etiology of AL from a contextual perspective. In the present study, cross-situational and context-specific genetic effects on individual differences in AL at age 2 were examined. The AL of 312 twin pairs (144…

Newborn screening is the process of testing and screening newborns shortly after birth for certain, potentially dangerous, conditions and/or impairments--conditions that include everything from inborn errors of metabolism and other genetic disorders to hearing impairment. Early detection through newborn screening is paramount, often allowing the…

The disorders of the neuromuscular junction seen in children, the congenital myasthenic syndromes and autoimmune myasthenia gravis, are very rare. Their clinical symptoms and signs may be variable, most notably in the neonate and infant. They should enter the differential diagnosis of many different clinical presentations, such as "floppy infant"…

Background: This paper examines familiality and candidate gene associations of cognitive measures as potential endophenotypes in attention-deficit/hyperactivity disorder (ADHD). Methods: The sample consists of 540 participants, aged 6 to 18, who were diagnosed with ADHD from 251 families recruited for a larger genetic study of ADHD. All members of…

"Drosophila melanogaster" is a commonly utilized organism for testing hypotheses about inheritance of traits. Students in both high school and university labs study the genetics of inheritance by analyzing offspring of appropriate "Drosophila" crosses to determine inheritance patterns, including gene linkage. However, most genetics investigations…

This article presents an experiment designed to provide students, in a classroom laboratory setting, a hands-on demonstration of the steps used in DNA forensic analysis by performing DNA extraction, DNA fingerprinting, and statistical analysis of the data. This experiment demonstrates how DNA fingerprinting is performed and how long it takes. It…

A study was conducted to establish the relationship between Attention-Deficit/Hyperactivity (ADHD) disorder and high-IQ children and whether ADHD has a high predictive value among youths with high-IQ. Results further supported the hypothesis for the predictive validity of ADHD in high-IQ youths.

The decoding of the human genome was supposed to have been the dawn of the age of personalized medicine. It turned out, though, that health is affected by a lot more than genes. As scientists were already aware, the environment and life experiences also have a huge impact on disease. Researchers, such as Jeremy K. Nicholson, have worked to make…

Previous studies have shown that inhibiting protein synthesis shortly after reactivation impairs the subsequent expression of a previously consolidated fear memory. This has suggested that reactivation returns a memory to a labile state and that protein synthesis is required for the subsequent restabilization of memory. While the molecular…