Contemporary genomics research will impact the daily practice of biology teachers who want to teach up-to-date genetics in secondary education. This article reports on a research project aimed at enhancing biology teachers' expertise for teaching genetics situated in the context of genetic testing. The increasing body of scientific knowledge…

Prenatal risk factors, with special focus on gender distribution of neurodevelopmental and psychiatric conditions were analysed in first-degree relatives in a population-based group of young children with autism spectrum disorders (ASD). Multiple information sources were combined. This group was contrasted with the general population regarding…

Background: A number of genetic conditions with associated intellectual disability and/or special educational needs have increasingly well-defined behavioural phenotypes. Thus, the concept of "behavioural phenotype" and aetiology of intellectual disability may be important with regard to school-based interventions. Method: The evidence for…

The National Science Foundation's GK-12 program provides a unique opportunity for STEM collaboration between the K-12 classroom and university research. This partnership benefits students through experiential learning, exposure to research, exceptional mentorship, and preparation for postsecondary education. Additionally, researchers gain…

Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities. CMA includes array comparative genomic hybridization (CGH) and single nucleotide polymorphism…

This article examines the relationship between cultural affiliation and deaf adults' motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf,…

This paper presents findings from a study on the use of sign supported Norwegian (SSN) in two individuals with Cri du chat syndrome (CCS). The study gives a first account of some selected aspects of production and intelligibility of SSN in CCS. Possible deviance in manual parameters, in particular inter- and/or intra-subject variation in the use…

A March 16, 2009 New York Times headline read, "An Outbreak of Autism, or a Statistical Fluke?" While this article focused narrowly on Somali families relocated to the Minneapolis area, the headline applies equally well to the broader national picture of autism spectrum disorders (ASDs), and it represents a compelling illustration of the lack of…

The domain of figurative language comprehension was used to probe the developmental relation between language and cognition in typically developing individuals and individuals with Williams syndrome. Extending the work of Vosniadou and Ortony, the emergence of nonliteral similarity and category knowledge was investigated in 117 typically…

Mutations in nuclear and mitochondrial DNA impacting mitochondrial function result in disease manifestations ranging from early death to abnormalities in all major organ systems and to symptoms that can be largely confined to muscle fatigue. The definitive diagnosis of a mitochondrial disorder can be difficult to establish. When the constellation…

Fragile X Syndrome is a neurodevelopmental disorder that is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation 1 ("FMR1") gene. In recent years, the premutation ("carrier") status has received considerable attention and there is now an emerging consensus that despite intellectual functioning being within…

We examined auditory perception in Williams syndrome by investigating strategies used in organizing sound patterns into coherent units. In Experiment 1, we investigated the streaming of sound sequences into perceptual units, on the basis of pitch cues, in a group of children and adults with Williams syndrome compared to typical controls. We showed…

The reading skills of a girl with Williams Syndrome are assessed by a timed word-naming task. To test the efficiency of lexical and nonlexical reading, we considered four marker effects: Lexicality (better reading of words than nonwords), frequency (better reading of high than low frequency words), length (better reading of short than long words),…

Children with Williams syndrome (WS) have been reported to often face problems in daily communication and to have deficits in their pragmatic language abilities. To test this hypothesis, we examined whether children with WS could modify their verbal communication according to others' attention in order to share what they did. The children with WS…

Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including…