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Autonomic nervous system dysfunction in Prader–Willi syndrome

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Abstract

Introduction

Prader–Willi syndrome is a complex neurodevelopmental genetic disorder due to lack of paternal expression of critical imprinted genes in the 15q11.2-q13.1 chromosomal region, generally from a paternal deletion. Predominant features include infantile hypotonia, a poor suck with failure to thrive, craniofacial features, and developmental and behavioral problems including self-injury and childhood onset of obesity. In addition to severe obesity, patients with PWS present with other symptoms of autonomic nervous system dysfunction.

Methods

We examined the features seen in Prader–Willi syndrome and searched the literature for evidence of autonomic nervous system involvement in this rare obesity-related disorder and illustrative findings possibly due to autonomic nervous system dysfunction. Additionally, we reviewed the literature in relation to childhood obesity syndromes and compared those syndromes to the syndromic obesity found in Prader–Willi syndrome.

Results

We report autonomic nervous system-related symptoms associated with childhood obesity impacting features seen in Prader–Willi syndrome and possibly other obesity-related genetic syndromes. We compiled evidence of both an autonomic route for the obesity seen in PWS and other autonomic nervous system-related dysfunctions. These include decreased salvation, sleep disordered breathing, increased pain and thermal threshold instability, delayed gastric emptying, altered blood pressure readings, and pupillary constriction responses as evidence of autonomic nervous system involvement.

Conclusions

We summarized and illustrated findings of autonomic nervous system dysfunction in Prader–Willi syndrome and other obesity-related syndromes and genetic factors that may play a causative role in development.

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Data availability statement

All data in this review have been previously published and is part of the public record.

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Acknowledgements

MGB acknowledges support from the Eunice Kennedy Shriver National Institute of Child Health and Human Development Grant #02528. LTR acknowledges support from the Foundation for Prader–Willi Research.

Funding

Eunice Kennedy Shriver National Institute of Child Health and Human Development, HD02528, Merlin G. Butler. Foundation for Prader–Willi Research, Lawrence T. Reiter.

Author information

Authors and Affiliations

  1. Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, 66160, USA

    Merlin G. Butler

  2. Department of Neurology, The University of Tennessee Health Science Center, Memphis, TN, 38163, USA

    A. Kaitlyn Victor & Lawrence T. Reiter

  3. IPBS Program, The University of Tennessee Health Science Center, Memphis, TN, 38163, USA

    A. Kaitlyn Victor

  4. Department of Pediatrics and Anatomy & Neurobiology, The University of Tennessee Health Science Center, Memphis, TN, 38163, USA

    Lawrence T. Reiter

Authors
  1. Merlin G. Butler
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  2. A. Kaitlyn Victor
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  3. Lawrence T. Reiter
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Corresponding author

Correspondence to Merlin G. Butler.

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The authors declare no competing interests related to this work. On behalf of all authors, the corresponding author states that there is no conflict of interest.

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Butler, M.G., Victor, A.K. & Reiter, L.T. Autonomic nervous system dysfunction in Prader–Willi syndrome. Clin Auton Res 33, 281–286 (2023). https://doi.org/10.1007/s10286-022-00909-7

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  • DOI: https://doi.org/10.1007/s10286-022-00909-7

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