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Chapter 14 - The Neurobiology of Prader-Willi Syndrome

Published online by Cambridge University Press:  26 May 2022

By
Deepan Singh
Edited by
Deepan Singh
Deepan Singh
Affiliation:
Maimonides Medical Center in Brooklyn
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Summary

This chapter is intended to provide a neurobiologically based framework to understand the behavioral problems seen in PWS. These abnormalities are as a direct result of the loss of function of chromosome 15q11-13. The main brain abnormalities in PWS arise from a dysfunction of areas of higher functioning such as the hypothalamus, insula, orbitofrontal, and anterior cingulate cortices. Additionally, there is abnormal functioning of the serotonin, dopamine, and norepinephrine systems. These dysfunctions collectively lead to the failure of the response monitoring or model-based learning function of the brain. Inadequate or impaired functioning of the response monitoring system in patients with PWS leads to multiple issues including impulsivity and response perseveration. Finally, in place of utilizing the response monitoring system, patients with PWS resort to habit-based learning, which leads to inflexibility. Reminding ourselves of the complex neurobiology that drives our patients and loved ones with PWS might lead to better tolerance for their maladaptive behaviors and more useful management strategies.

Keywords

neurobiologyhypothalamusresponse monitoringMagel2SNORDnecdinimprinting centerimpulsivityserotonin receptorresponse perseveration
Type
Chapter
Information
Neuro-behavioral Manifestations of Prader-Willi Syndrome
A Guide for Clinicians and Caregivers
 , pp. 154 - 170
Publisher: Cambridge University Press
Print publication year: 2022

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