It is becoming increasingly clear that little in development is predetermined or permanently fixed. Rather, gene expression is activity dependent, and epigenesis is probabilistic. So, the study of genetic disorders needs to change from the still widely held view that developmental disorders can be accounted for in terms of intact versus impaired…

Adult onset, type2 diabetes affects Latino families at a higher rate than other ethnicities and negatively impacting their quality of life, ability to financially succeed, and ultimately impacting our overall economy. Multiple resources are available in the country to help people learn how to prevent, control, and manage diabetes. However, the…

A growing body of empirical research reveals that genetic factors account for a substantial amount of variance in measures of antisocial behaviors. At the same time, evidence is also emerging indicating that certain environmental factors moderate the effects that genetic factors have on antisocial outcomes. Despite this line of research, much…

The purpose of this study was to investigate primary students' learning through participation in an out-of-school enrichment programme, held in a science centre, which focused on DNA and genes and whether participation in the programme led to an increased understanding of inheritance as well as promoted interest in the topic. The sample consisted…

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and examined relationships between use of these resources and the health of female caregivers. Data was sourced from questionnaires completed by families (n=170) contributing to the Australian…

Microarray is a high throughput technology to measure the gene expression. Analysis of microarray data brings many interesting and challenging problems. This thesis consists three studies related to microarray data. First, we propose a Bayesian model for microarray data and use Bayes Factors to identify differentially expressed genes. Second, we…

Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant ("SPTLC1"…

Language problems can be associated with specific genetic syndromes, such as Klinefelter syndrome and fragile X syndrome, even in the absence of intellectual and developmental disabilities. Turner syndrome, a relatively common genetic disorder, is caused by the complete or partial absence of 1 of the 2 X chromosomes typically present in women. The…

Reader's theater is an activity in which students, while reading directly from scripts, are able to tell a story in its most entertaining form. Typically, teachers create or purchase premade scripts of stories, and students focus on reading those scripts in a fluent and expressive manner. However, in the lesson presented here, students turn the…

Rhetoricians have tried to develop a better understanding of the connection between words and things, but these attempts often employ a logic of representation that undermines a full examination of materiality and the complexity of scientific practice. A logic of articulation offers a viable alternative by focusing attention on the linkages…

Research has supported the existence of distinct behavioral patterns, demographic correlates, and etiologic mechanisms for aggressive (AGG) versus nonaggressive but delinquent (DEL) antisocial behavior. Though behavioral genetic studies have the potential to further crystallize these dimensions, inconsistent results have limited their…

A functional polymorphism in the promoter of the gene encoding monoamine oxidase A has been associated with problem behavior in various populations. We examined the association of MAOA alleles in adult males with intellectual/developmental disabilities with and without established histories of problem behavior. These data were compared with a…

To define the spectrum of epilepsy in Wolf-Hirschhorn syndrome (WHS) better, we studied 87 patients (54 females, 33 males; median age 5.6 years; age range 1-25.6 years) with confirmed 4p16.3 deletion. On the basis of clinical charts, we retrospectively analyzed the evolution of the electroencephalogram (EEG) findings and seizures. Epilepsy…

Purpose: To compare the perceived articulation rate of boys with fragile X syndrome (FXS) with that of chronologically age-matched (CA) boys and to determine segmental and/or prosodic factors that account for perceived rate. Method: Ten listeners used direct magnitude estimation procedures to judge the articulation rates of 7 boys with FXS only, 5…

Background: To investigate the association between normative repetitive routines of childhood and paediatric obsessive compulsive symptom syndrome (OCSS) and the extent to which it is genetically mediated. Methods: In a two-phase design a community sample of 4,662 6-year-old twin-pairs were sampled and 854 pairs were assessed in the second phase…