Accidental hypothermia in an infant with Prader-Willi syndrome

Watanabe, Toru; Iwabuchi, Haruko; Oishi, Masanori

doi:10.1007/s00431-003-1261-4

Cited by 6 publications

(4 citation statements)

References 4 publications

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“…The mirror image of our cold stress model is reduced Oxtr in PVN that leads to increased Oxt secretion by the posterior pituitary due to the loss of negative feedback like in PWS (Figure 1). PWS children have disrupted thermoregulation that can lead to hyperpyrexia and hypothermia with no detectable causes and that can be fatal [18,19,41]. This together with the sensory deficit that characterized PWS and ASD [14] adds further credence that Oxt's regulation of thermogenesis is the mechanistic explanation of PWS.…”

Section: The Link With Prader-willi Syndromementioning

confidence: 99%

“…PWS children have disrupted thermoregulation that can lead to hyperpyrexia and hypothermia with no detectable causes and that can be fatal [ 18 , 19 , 41 ]. This together with the sensory deficit that characterized PWS and ASD [ 14 ] adds further credence that Oxt’s regulation of thermogenesis is the mechanistic explanation of PWS.…”

Section: The Link With Prader–willi Syndromementioning

confidence: 99%

“…Thermoregulation problems are a clinical feature of children with PWS and has been suggested to be linked to fewer Oxt neurons in PVN [ 2 ]. Indeed there are several cases of high fever similar to septic shock but with no infections or severe hypothermia in children and adolescents with PWS [ 14 , 18 , 19 ], as well as in Shaaf-Yang Syndrome (SSY), which has several overlapping features with PWS but is caused by pathogenic/truncating variants of MAGEL2 and the diagnosis of ASD is more frequent [ 20 ]. Finally, in the mouse model of SSY (Magel2 mouse), a high sensitivity to cold temperature is also reported that can be corrected by intranasal (IN) administration with Oxt agonist [ 21 ].…”

Section: Introductionmentioning

confidence: 99%

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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: The Link With Prader-willi Syndromementioning

confidence: 99%

Section: The Link With Prader–willi Syndromementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Camerino

2023

CIMB

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“…Indeed, in PWS, there are many cases of children with high fevers and no infectious causes that in some cases lead to hyperpyrexia that can be fatal (Ince et al, 2005 ). Severe cases of sudden hypothermia also exist (Watanabe et al, 2003 ). This phenotype is observed from the first months of life and seems to persist since cases in adolescents have also been described (McVea et al, 2016 ).…”

Section: Part 2: Importance Of the Oxytocinergic System In The Sensor...mentioning

confidence: 99%

Modulation of the thermosensory system by oxytocin

Zayan

Prato

Muscatelli

et al. 2023

Front. Mol. Neurosci.

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Oxytocin (OT) is a neurohormone involved early in neurodevelopment and is implicated in multiple functions, including sensory modulation. Evidence of such modulation has been observed for different sensory modalities in both healthy and pathological conditions. This review summarizes the pleiotropic modulation that OT can exercise on an often overlooked sensory system: thermosensation. This system allows us to sense temperature variations and compensate for the variation to maintain a stable core body temperature. Oxytocin modulates autonomic and behavioral mechanisms underlying thermoregulation at both central and peripheral levels. Hyposensitivity or hypersensitivity for different sensory modalities, including thermosensitivity, is a common feature in autism spectrum disorder (ASD), recapitulated in several ASD mouse models. These sensory dysregulations occur early in post-natal development and are correlated with dysregulation of the oxytocinergic system. In this study, we discussed the potential link between thermosensory atypia and the dysregulation of the oxytocinergic system in ASD.

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Medical Considerations in Prader-Willi Syndrome

Eiholzer¹,

Lee

Management of Prader-Willi Syndrome

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Accidental hypothermia in an infant with Prader-Willi syndrome

Cited by 6 publications

References 4 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

Modulation of the thermosensory system by oxytocin

Medical Considerations in Prader-Willi Syndrome

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