Tuberous sclerosis is a genetic condition that is strongly associated with the development of an autism spectrum disorder. However, there is marked variability in expression, and only a subset of children with tuberous sclerosis develop autism spectrum disorder. Clarification of the mechanisms that underlie the association and variability in…

Lennox-Gastaut (L-G) syndrome is an intractable generalized epilepsy of childhood onset, associated with spike waves at a slow rate and paroxysmal fast activity. These epileptiform discharge patterns are thought to reflect excessive neocortical excitability and arise from neuronal and synaptic features peculiar to the immature central nervous…

Studies on human patients and animal models of disease have shown that disruptions in prenatal and early postnatal brain development are a root cause of mental retardation. Since proper brain development is achieved by a strict spatiotemporal control of neurogenesis, cell migration, and patterning of synapses, abnormalities in one or more of these…

Positron emission tomography (PET) is a technique that enables imaging of the distribution of radiolabeled tracers designed to track biochemical and molecular processes in the body after intravenous injection or inhalation. New strategies for the use of radiolabeled tracers hold potential for imaging gene expression in the brain during development…

Lowered intelligence relative to controls is evident by mid-childhood in children with sickle cell disease. There is consensus that brain infarct contributes to this deficit, but the subtle lowering of IQ in children with normal MRI scans might be accounted for by chronic systemic complications leading to insufficient oxygen delivery to the brain.…

Background: Unusual responses to sensory stimuli are seen in many children with autism. Their presence was highlighted both in early accounts of autism and in more recent first-person descriptions. There is a widespread belief that sensory symptoms characterize autism and differentiate it from other disorders. This paper examines the empirical…

Background and Purpose: The intensity of physical therapy provided for children in early intervention (EI) programs may be influenced by a number of factors. In an individualized program, however, some children and families may benefit from an increased frequency of services. The purpose of this case report was to systematically document and…

Most attention deficit hyperactivity disorder (ADHD) research has compared cases with unaffected controls. This has led to many associations, but uncertainties about their specificity to ADHD in contrast with other disorders. We present a selective review of research, comparing ADHD with other disorders in neuropsychological, neurobiological and…

Universal newborn screening programs for metabolic disorders are typically described as a triumph of medicine and public policy in the US over the last 50 years. Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many additional metabolic and…

Recent advances in neuroscience show clearly how experience can change brain neurochemicals, and how this in turn affects the way the brain functions. As a result, early negative events actually get built into the growing brain's neurochemistry, altering the brain's architecture. Research is continuing to investigate how children with genetic…

Objective: To examine the association between limbic-hypothalamic-pituitary-adrenal (L-HPA) axis reactivity and social behavior in children with fragile X syndrome (FXS). Method: Salivary cortisol changes and concurrent anxiety-related behaviors consistent with the behavioral phenotype of FXS were measured in 90 children with the fragile X full…

Sickle cell disease (SCD) affects over 30,000 students in the United States. Central nervous system complications are widespread among students with SCD and include stroke, silent cerebral infarction, and cognitive impairment. The effects of these complications may lead to academic failure, limited career options, and for some, total disability.…

Background: The behaviours of 24 mothers of children with fragile X syndrome (FXS) with their affected children were examined during planned observations in their homes. The goal of this study was to describe concurrent maternal interactive behaviour and the factors that influence the type and frequency of these behaviours within this group.…

Newborn screening for fragile X syndrome (FXS) is technically possible, and in the relatively near future accurate and inexpensive screening technologies are likely to be available. When that happens, will America's public health system adopt newborn screening for fragile X syndrome? This article addresses this issue by first placing screening for…

Studying the biological mechanisms underlying mental retardation and developmental disabilities (MR/DD) is a very complex task. This is due to the wide heterogeneity of etiologies and pathways that lead to MR/DD. Breakthroughs in genetics and molecular biology and the development of sophisticated brain imaging techniques during the last decades…