Down syndrome (DS) is the most common genetic cause of significant intellectual disability in the human population, occurring in roughly 1 in 700 live births. The ultimate cause of DS is trisomy of all or part of the set of genes located on chromosome 21. How this trisomy leads to the phenotype of DS is unclear. The completion of the DNA…

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…

The years 2006 and 2007 saw the publication of three new and different approaches to prevention or amelioration of Down syndrome effects on the brain and cognition. We describe the animal model systems that were critical to this progress, review these independent breakthrough studies, and discuss the implications for therapeutic approaches…

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…

Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

Down syndrome (DS) is characterized by increased mortality rates, both during early and later stages of life, and age-specific mortality risk remains higher in adults with DS compared with the overall population of people with mental retardation and with typically developing populations. Causes of increased mortality rates early in life are…

Down syndrome (DS) is associated with abnormalities in multiple organ systems and a characteristic phenotype that includes numerous behavioral features. Language, however, is among the most impaired domains of functioning in DS and, perhaps, also the greatest barrier to independent meaningful inclusion in the community. In this article, we review…

This paper focuses on the communication and language phenotypes associated with three genetic disorders: Down syndrome, Williams syndrome, and fragile X syndrome. It is argued that there is empirical evidence that these disorders predispose children to specific profiles of strength and weakness in some areas of speech, language, and communication,…

In their role as committed advocates, parents of children with Down syndrome have always sought alternative therapies, mainly to enhance cognitive function but also to improve their appearance. Nutritional supplements have been the most frequent type of complementary and alternative therapy used. Cell therapy, plastic surgery, hormonal therapy,…

Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies…

Of the recent advances in education-related research in Down syndrome, the characterization of the Down syndrome behavioral phenotype has become a potentially critical tool for shaping education and intervention in this population. This article briefly reviews the literature on brain-behavior connections in Down syndrome and identifies aspects of…

Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language production and syntax and poor speech intelligibility. This article describes research findings in the language and communication development of individuals with Down syndrome, first…

Similar to the state of the broader intellectual disabilities field, many gaps exist in the research and treatment of mental health concerns in people with Down syndrome. This review summarizes key findings on the type and prevalence of behavior and emotional problems in children, adolescents, and adults with Down syndrome. Such findings include…