Background: Studies into the phenotype of rare genetic syndromes largely rely on bivariate analysis. The aim of this study was to describe the phenotype of Cornelia de Lange syndrome (CdLS) in depth by examining a large number of variables with varying measurement levels. Virtually the only suitable multivariate technique for this is categorical…

Background: Tuberous sclerosis (TSC) is a multi-system disorder caused by heterozygous mutations in the "TSC1" or "TSC2" gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, autism, other behavioural disorders and epilepsy. Method: Here, we review evidence from animal…

Stuttering interferes with a person's ability to speak fluently. It involves the repetition; prolongation; or blockage of sounds, syllables, or words. When a child stutters, he may hesitate to raise his hand in class, read aloud, or talk with other children in the class. Stuttering usually begins between the ages of two and four. While there is no…

This article describes a new approach to teaching bioinformatics using "Arabidopsis" genetic sequences. Several open-ended and inquiry-based laboratory exercises have been designed to help students grasp key concepts and gain practical skills in bioinformatics, using "Arabidopsis" leucine-rich repeat receptor-like kinase (LRR…

This commentary brings additional theoretical perspectives to bear on data and findings presented by Anniken Furberg and Hans Christian Arnseth in their paper on students' meaning making in genetics in collaborative learning activities. The theoretical perspectives converge on the importance of maximizing students' learning in genetics. The…

Background: The behavioural phenotypes of Prader-Willi (PWS) and Fragile-X (FraX) syndromes both comprise repetitive behaviours with differences between the profiles. In this study we investigated the context and antecedents to the repetitive behaviours and the association with other behavioural phenotypic characteristics in order to generate…

I present a laboratory procedure for illustrating transcription, post-transcriptional modification, gene conservation, and comparative genetics for use in undergraduate biology education. Students are individually assigned genes in a targeted biochemical pathway, for which they design and test polymerase chain reaction (PCR) primers. In this…

Background: Despite the evidence on anomalous attachment patterns, there has been a tendency to interpret most of these as reflecting differences in security/insecurity. Methods: Empirical research findings are reviewed in relation to attachment/insecurity as evident in both infancy and later childhood, disorganised attachment, inhibited…

Contributes systematic data on the attitudes of scientific experts who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. Finds that they are highly supportive of voluntary testing and the right to know one's genetic heritage. Calls for greater genetic literacy. (Contains 87 references.) (Author/NB)

Among people exposed to major psychological stressors in early life, there are elevated rates of morbidity and mortality from chronic diseases of aging. The most compelling data come from studies of children raised in poverty or maltreated by their parents, who show heightened vulnerability to vascular disease, autoimmune disorders, and premature…

Purpose: To demonstrate that early childhood speech sound disorders (SSD) and later school-age reading, written expression, and spelling skills are influenced by shared endophenotypes that may be in part genetic. Method: Children with SSD and their siblings were assessed at early childhood (ages 4-6 years) and followed at school age (7-12 years).…

This report describes three extensions to a classification system for paediatric speech sound disorders termed the Speech Disorders Classification System (SDCS). Part I describes a classification extension to the SDCS to differentiate motor speech disorders from speech delay and to differentiate among three sub-types of motor speech disorders.…

In this case study, an exemplary seventh grade science teacher's beliefs, planning decisions, implementation, and student reactions to her student-centered methods were examined over a 4-week unit on genetics. This situation was unique because the teacher was new to the profession and her students had no prior experience with student-centered…

Objective: Substitute fathers are often reported to commit child abuse at higher rates than birth (i.e., putative genetic) fathers. Due to the paucity of studies, especially in developing countries, and to some conflicting results from developed countries regarding the identity of perpetrators of less extreme forms of physical abuse of children in…

Floating-Harbor syndrome is a rare congenital disorder characterized by specific facial features, short stature associated with significantly delayed bone age and language impairment. Although language delay is a cardinal manifestation of this syndrome, few reports describe the specific language difficulties of these patients, particularly the…