This study examined the validity of the Klonoff and Landrine Illness-Belief Scale when applied to Latino college students (n = 156; 34% male, 66% female) at high risk for future diabetes onset. Principal factor analysis yielded four significant factors--emotional, folk beliefs, punitive, gene/hereditary--which accounted for 64.5% of variance and…

Early experience preserves and refines many capabilities that emerge prenatally. Here we describe another role that it plays--establishing the neural substrate for capabilities that emerge at a much later point in development. The evidence comes from sleeper effects: permanent deficits when early experience was absent in capabilities that normally…

Children with fragile X syndrome (FXS), the most common known inherited cause of intellectual disability, typically experience communication difficulties. Children with other intellectual disabilities such as Down syndrome also experience communication difficulties. Further, many boys with FXS (some estimates are as high as 35 percent) also are…

This article provides an overview of current research on Fragile X Syndrome, and how that knowledge can be used to guide successful intervention. The genetic etiology of Fragile X is reviewed and the physical, cognitive, adaptive, behavioral, and emotional phenotypes of children with the disorder are described, highlighting the differences in…

The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal. A school survey was conducted in elementary schools, targeting 332 808 school-aged children in the mainland and 10 910 in the Azores islands.…

Hurler syndrome (mucopolysaccharidosis type 1H; MPS1H) is a lysosomal storage disease caused by a deficiency of [alpha]-L-iduronidase activity. The natural course of this neurodegenerative disease inevitably leads to premature death within the first 10 years of life. Enzyme replacement therapy is effective in correcting the enzymatic deficiency of…

This is a highly personal account of how the author became aware of the source and the nature of her visual difficulties that stem from a rare, genetically inherited condition known as Sorsby's Fundus Dystrophy. Tracing the family history, discovering the characteristic symptoms of this degenerative eye condition, and coming to terms with the…

Background: Figurative language, such as metaphor and metonymy, is very common in daily language use. Its underlying cognitive processes are sometimes viewed as lying at the interface of language and thought. Williams syndrome, which is a rare genetic developmental disorder, provides an opportunity to study this interface because individuals with…

Neurofibromatosis, type 1 (NF-1) is a common genetic disorder affecting 1 in 3,500-4,000 individuals in the world. Mutations of the NF-1 gene produce a myriad of physical, medical, and psychological manifestations. Although there is a very high degree of variability in the manifestations between individuals with NF-1, the majority of children and…

We investigated empowerment in the Alpha-1 Antitrypsin Deficiency (Alpha-1) community, a rare, genetic disease network in the United States. The research was motivated by nine years of observations in the community. After observing what seemed to be a heightened amount of activism among Alpha-1 community members, I had hypothesized that this…

This study examines the information seeking and use behaviors of English language learners (ELLs) while performing a research task, using Vygotsky's Zone of Proximal Development and Kuhlthau's Information Search Process as theoretical frameworks. The research tasks implemented in this study were curriculum based units where students engaged a…

Introductory biology textbooks often use the example of sickle-cell anemia to illustrate the concept of heterozygote protection. Ordinarily scientists expect the frequency of a gene associated with a debilitating illness would be low owing to its continual elimination by natural selection. The gene that causes sickle-cell anemia, however, has a…

The expansion of newborn screening programs to include multiplex testing by tandem mass spectrometry requires understanding and close monitoring of performance metrics. This is not done consistently because of lack of defined targets, and interlaboratory comparison is almost nonexistent. Between July 2004 and April 2006 (N = 176,185 cases), the…

Research findings examining the adjustment of siblings of children with autism has been inconsistent, with some studies concluding that siblings are negatively impacted, while others have found no adverse effects. We argue that one reason for these inconsistent findings may be the failure by some investigators to take into account the increased…

Recent scientific discoveries have made it much easier to test prenatally for various genetic disabilities, such as Down syndrome. However, while many observers have heralded such "advances" for their effectiveness in detecting certain conditions, others have argued that they perpetuate discrimination by preventing the birth of children with…