Background: Current research suggests that depression and anxiety may be common problems in women with the fragile X (FMR1) premutation. Methods: To learn more about this in a clinical setting, we asked 33 women with the FMR1 premutation and 20 women without the FMR1 premutation to complete the Brief Carroll Depression Scale (Brief CDS) and the…

Although academic achievement is a heritable construct, to date research has yet to explore its molecular genetic underpinnings. Drawing on data from the National Longitudinal Study of Adolescent Health, the current longitudinal study investigated the associations between polymorphisms in three dopaminergic genes (DAT1, DRD2, and DRD4) and…

Forty-five parents of children with autism, cerebral palsy, Down syndrome, and sickle cell disease participated in 8 focus groups. Parents discussed how they, the child with the disability, and the siblings addressed community perceptions about the child's disability. Themes evolving from the interviews included (a) support and lack of support,…

Background: The employment impact and financial burden experienced by families of children with fragile X syndrome (FXS) has not been quantified in the USA. Method: Using a national fragile X family survey, we analysed data on 1019 families with at least one child who had a full FXS mutation. Out-of-pocket expenditures related to fragile X were…

Objective: To compare the ADHD combined/hyperactive subtype (ADHD/CH) to the ADHD inattentive subtype (ADHD/I) on the level of comorbidity, treatment response, and possible etiological factors. Method: A total of 371 clinically referred children diagnosed with ADHD aged between 6 and 12 years are recruited for a double-blind, placebo-controlled…

While genetics has remained as one key topic in school science, it continues to be conceptually and linguistically difficult for students with the concomitant debates as to what should be taught in the age of biotechnology. This article documents the development and implementation of a two-tier multiple-choice instrument for diagnosing grades 10…

Down Syndrome (DS) caused by trisomy 21 is characterized by a variety of phenotypes and involves multiple organs. Sequencing of human chromosome 21 (HSA21) and subsequently of its orthologues on mouse chromosome 16 have created an unprecedented opportunity to explore the complex relationship between various DS phenotypes and the extra copy of…

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…