Twin research has a long history and plays a central role in the ongoing exploration of the influence of genes and the environment on human development. Recent advances in molecular biology and the ability to identify the role of specific genes in human development raise new questions about how genes and the environment influence behavior. At the…

Fragile X mental retardation is a disease caused by the loss of function of a single RNA-binding protein, FMRP. Identifying the RNA targets recognized by FMRP is likely to reveal much about its functions in controlling some aspects of memory and behavior. Recent evidence suggests that one of the predominant RNA motifs recognized by the FMRP…

The human and mouse genome projects elucidated the sequence and position map of innumerous genes expressed in the central nervous system (CNS), advancing our ability to manipulate these sequences and create models to investigate regulation of gene expression and function. In this article, we reviewed gene targeting methodologies with emphasis on…

The following paper presents the main evaluation instruments used in early intervention, and reflects upon their use, taking into account that they were created with and for the normal population. Likewise, developmental characteristics of some child groups are described, more notably the x fragile syndrome, Williams syndrome and Prader Willi…

What better way to clarify a topic and allow it to come alive than to provide students with a way to actually see it? Images, diagrams, and flowcharts can draw students in. In this article, the author reviews "Roche Genetics: Education Program" CD-ROM version 4.0. The program is organized using a theme park analogy. An information booth leads to a…

In this article, we examine the extent to which children with autism and children with learning difficulties can be discriminated from their responses to different patterns of sensory stimuli. Using an adapted version of the Short Sensory Profile (SSP), sensory processing was compared in 34 children with autism to 33 children with typical…

Recent changes in genetics research have created new opportunities to improve the scope and quality of newborn screening services. Changes in newborn screening should be supported and directed by an organized program of research. The NICHD Research Initiative in Newborn Screening includes the development of systematic methods to identify…

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…

Since the identification of the FMR1 gene basic research has been focused on the molecular characterization of the FMR1 gene product, the fragile X mental retardation protein (FMRP). Recent developments in fragile X research have provided new insights and knowledge about the physiological function of FMRP in the cell and the nerve cell in…

Fragile X syndrome is the most common heritable form of mental retardation caused by loss-of-function mutations in the "FMR1" gene. The "FMR1" gene encodes an RNA-binding protein that associates with translating ribosomes and acts as a negative translational regulator. Recent work in "Drosophila melanogaster" has shown that the fly homolog of…

The fictional case study presented here is not based on one case, but is actually based on several cases. College students enrolled in a bioethics course for non-majors wrote it. The case entails the thought processes and decision-making involved in order to save one child suffering from a genetic disorder by producing another child, a "designer…

As part of the Combating Autism Act of 2006, the members of the Interagency Autism Coordinating Committee (IACC) are required to develop an annual "Summary of Advances" to describe each year's top advances in autism spectrum disorder (ASD) research. These advances represent significant progress in the early diagnosis of ASD, understanding the…

Objective: Background: Children with velocardiofacial syndrome (VCFS), a contiguous deletion syndrome, have an increased prevalence of attention deficit/hyperactivity disorder (ADHD). Method: The authors compared youth with VCFS+ADHD (from the SUNY Upstate VCFS Research Program) to those with ADHD but not VCFS (from the Massachusetts General…

Identifying health problems in people with severe and profound disabilities and genetic syndromes can be problematic, and unidentified or unmanaged health problems may adversely impact an individual's quality of life. The authors studied carer-reported contemporary health problems in three genetic syndromes (Angelman, Cornelia de Lange, and Cri du…

Background: Williams syndrome (WS), a neurodevelopmental disorder, is characterized by pervasive cognitive deficits alongside a relative sparing of auditory perception and cognition. A frequent characteristic of the phenotype is adverse reactions to, and/or fascination with, certain sounds. Previously published reports indicate that people with WS…