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…

Past autism research has often been dedicated to tracing the causes of the disorder to a localized neurological abnormality, a single functional network, or a single cognitive-behavioral domain. In this review, I argue that autism is a "distributed disorder" on various levels of study (genetic, neuroanatomical, neurofunctional, behavioral).…

Most children diagnosed today with acute lymphoblastic leukemia (ALL) will be cured. However, treatment entails risk of neurotoxicity, causing deficits in neurocognitive function that can persist in the years after treatment is completed. Many of the components of leukemia therapy can contribute to adverse neurologic sequelae, including…

Gene therapy is unarguably the definitive way to treat, and possibly cure, genetic diseases. A straightforward concept in theory, in practice it has proven difficult to realize, even when directed to easily accessed somatic cell systems. Gene therapy for diseases in which the central nervous system (CNS) is the target organ presents even greater…

The development of feeding and swallowing is the result of a complex interface between the developing nervous system, various physiological systems, and the environment. The purpose of this article is to review the neurobiology, development, and assessment of feeding and swallowing during early infancy. In recent years, there have been exciting…

Disorders of white matter are some of the most commonly encountered conditions in the practice of child neurology. For a child presenting with evidence of neurological impairment, a magnetic resonance imaging (MRI) of the brain is usually performed and often proves informative in suggesting the diagnosis. Traditionally, primary white matter…

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…

Multiple sclerosis (MS) is an autoimmune demyelinating disorder of the central nervous system (CNS) that is increasingly recognized as a disease that affects children. Similar to adult-onset MS, children present with visual and sensory complaints, as well as weakness, spasticity, and ataxia. A lumbar puncture can be helpful in diagnosing MS when…

General movements (GMs) are part of the spontaneous movement repertoire and are present from early fetal life onwards until the end of the first half a year of life. GMs are complex, occur frequently, and last long enough to be observed properly. They involve the whole body in a variable sequence of arm, leg, neck, and trunk movements. They wax…

In an ideal world, each neonate should have a comprehensive neurological examination but in practice this is often difficult. In this review we will describe what a routine neurological evaluation in the full-term neonate should consist of and how the Dubowitz examination is performed. The examination has been used for over 20 years and can be…

"Drosophila melanogaster" is emerging as a valuable genetic model system for the study of mental retardation (MR). MR genes are remarkably similar between humans and fruit flies. Cognitive behavioral assays can detect reductions in learning and memory in flies with mutations in MR genes. Neuroanatomical methods, including some at single-neuron…

Inflammation during the perinatal period has become a recognized risk factor for developmental brain injuries over the past decade or more. To fully understand the relationship between inflammation and brain development, a comprehensive knowledge about the immune system within the brain is essential. Microglia are resident immune cells within the…

Successful treatment of many childhood diseases once considered terminal has resulted in the emergence of long-term effects of the disease or consequences of treatment that were previously unrecognized. Many of these long-term effects involve the central nervous system (CNS) and are developmental in the way that they emerge over time. Because we…

Both clinical and laboratory studies demonstrate that seizures early in life can result in permanent behavioral abnormalities and enhance epileptogenicity. Understanding the critical periods of vulnerability of the developing nervous system to seizure-induced changes may provide insights into parallel or divergent processes in the development of…

The complexities of neurobehavioral assessment of the fetus, which can be neither directly viewed nor manipulated, cannot be understated. Impetus to develop methods for measuring fetal neurobehavioral development has been provided by the recognition that individual differences in neurobehavioral functioning do not originate with birth and…