Spotlight on Angelman syndrome

Angelman syndrome is a neurodevelopmental disorder characterized by intellectual disability, epilepsy, ataxia, and a unique behavioral phenotype. Diagnosing Angelman syndrome has important implications for prognosis, genetic counseling, health surveillance, and, in some instances, specific symptomatic therapies.

In this article, Dr. Ryan Lee of the John A Burns School of Medicine at the University of Hawaii discusses the diagnosis, prognosis, genetic counseling, and health surveillance of patients with Angelman syndrome. Also discussed are studies using models of Angelman syndrome, which provide insight into the pathoetiology and potential treatment of Angelman syndrome.

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Spotlight on Schizencephaly

Schizencephalies are brain dysgeneses characterized by cerebral clefts lined by the polymicrogyric cortex extending from the pial surface to the lateral ventricles. The severity of the clinical picture, made up by motor deficits, intellectual disability, and epilepsy, is related to type, location, and size of the clefts and the presence of associated brain abnormalities. Epidemiologic and genetic studies suggest both acquired and genetic causes.

In this article, Dr. Peter Barth of the University of Amsterdam describes the various types of schizencephaly with an update on recent findings.

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Spotlight on Fetal alcohol syndrome

Fetal alcohol syndrome is the most common preventable cause of intellectual disability in the Western world. In addition to inducing developmental delay, gestational alcohol exposure can lead to a variety of neurodevelopmental abnormalities, including epilepsy, attention deficit hyperactivity disorder, and academic difficulties. Many of these behavioral deficits in children with fetal alcohol syndrome are due to alcohol-induced neuronal death. In this updated clinical summary, Dr. Nancy Bonthius and Dr. Daniel Bonthius, both of the University of Iowa, discuss the diagnostic approach to fetal alcohol syndrome and recent research investigating the pathogenesis of alcohol-induced fetal damage. In addition, the authors discuss the importance of genetics in determining the vulnerability of the fetus to alcohol-induced brain damage. The authors also discuss some challenging medical-legal issues facing physicians and other caregivers that care for women who may abuse alcohol during pregnancy.

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MedLink Neurology authors are always at work to bring you broad and up-to-date coverage of neurology topics. We are pleased to highlight clinical summaries that have been recently added or updated and to introduce the authors who write these authoritative articles. We hope you enjoy these overviews and appreciate the contributions of our more than 450 authors who keep MedLink Neurology the premier information resource for neurologists.