Oxytocin Treatment May Improve Infant Feeding and Social Skills in Prader-Willi Syndrome

MacIver, Nancie J.

doi:10.1542/peds.2016-3833

Cited by 1 publication

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References 10 publications

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“…PWS is a rare complex genetic disorder arising from the lack of expression of paternally inherited genes on chromosome 15q11-q13 due to the deletion of the paternally inherited region (delPWS) or maternal uniparental disomy, where both copies are inherited from the mother (mUPD), or to an imprinting defect due to microdeletions or epimutations and paternal chromosomal rearrangements such as translocations [ 22 ]. Magel2 is one of the affected genes located on 15q11-q13, and Magel2 mutations have been found in individuals with ASD, intellectual disability and PWS [ 23 ].…”

Section: An Update On Prader–willi Syndromementioning

confidence: 99%

Oxytocin’s Regulation of Thermogenesis May Be the Link to Prader–Willi Syndrome

Camerino

2023

CIMB

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Prader–Willi Syndrome (PWS) is a genetic neurodevelopmental disorder that is caused by either the deletion of the paternal allele of 15q11-q13, maternal uniparental disomy of chromosome 15 or defects in the chromosome 15 imprinting centre and is characterized by cognitive impairment, hyperphagia and low metabolic rate with significant risk of obesity, as well as a variety of other maladaptive behaviours and autistic spectrum disorder (ASD). Many of the features seen in PWS are thought to be due to hypothalamic dysfunction resulting in hormonal abnormalities and impaired social functioning. The preponderance of evidence indicates that the Oxytocin system is dysregulated in PWS individuals and that this neuropeptide pathways may provide promising targets for therapeutic intervention although the process by which this dysregulation occurs in PWS awaits mechanistic investigation. PWS individuals present abnormalities in thermoregulation an impaired detection for temperature change and altered perception of pain indicating an altered autonomic nervous system. Recent studies indicate that Oxytocin is involved in thermoregulation and pain perception. This review will describe the update on PWS and the recent discoveries on Oxytocin regulation of thermogenesis together with the potential link between Oxytocin regulation of thermogenesis and PWS to create a new groundwork for the treatment of this condition.

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Section: An Update On Prader–willi Syndromementioning

confidence: 99%

Oxytocin’s Regulation of Thermogenesis May Be the Link to Prader–Willi Syndrome

Camerino

2023

CIMB

View full text Add to dashboard Cite

show abstract

Oxytocin Treatment May Improve Infant Feeding and Social Skills in Prader-Willi Syndrome

Cited by 1 publication

References 10 publications

Oxytocin’s Regulation of Thermogenesis May Be the Link to Prader–Willi Syndrome

Oxytocin’s Regulation of Thermogenesis May Be the Link to Prader–Willi Syndrome

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