Skip to main content Accessibility help
×
Home
Hostname: page-component-6c8bd87754-9k7mv Total loading time: 1.099 Render date: 2022-01-18T21:48:43.920Z Has data issue: true Feature Flags: { "shouldUseShareProductTool": true, "shouldUseHypothesis": true, "isUnsiloEnabled": true, "metricsAbstractViews": false, "figures": true, "newCiteModal": false, "newCitedByModal": true, "newEcommerce": true, "newUsageEvents": true }

Book contents

Chapter 30 - Developmental disorders

Published online by Cambridge University Press:  05 October 2012

John I. Nurnberger, Jr
Affiliation:
Indiana University School of Medicine
Wade Berrettini
Affiliation:
University of Pennsylvania School of Medicine
Get access

Summary

This chapter reviews recent evidence describing the genetic underpinnings of several developmental disorders. It discusses the Down syndrome, focusing on the disorder of gene dosage, the Rett's disorder with emphasis on the persistence of genetic heterogeneity, and the Prader-Willi and Angelman syndromes, which involve a study in genetic imprinting. The chapter also discusses the Smith-Magenis syndrome (SMS) and Fragile X syndrome (FXS), with an attempt to understand the molecular basis of a developmental disorder. The Down syndrome is a phenotypically variable, relatively common cause of developmental disability. Overall Prader-Willi and Angelman syndromes represent developmental disorders whose genetic underpinnings are better understood than autism. Overlap between SMS and other developmental disorders, will allow for a better future understanding of the link between specific gene dysregulation and phenotypic expression. Increased understanding of glutamatergic neurotransmission may hold promise for future study of the neurobiology and treatment of autism spectrum disorder (ASD).
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2012

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Send book to Kindle

To send this book to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle.

Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Send book to Dropbox

To send content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about sending content to Dropbox.

Available formats
×

Send book to Google Drive

To send content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about sending content to Google Drive.

Available formats
×