Physical activity in the management of obesity in prader-willi syndrome
DOI:
https://doi.org/10.12775/QS.2025.41.60335Keywords
Prader Willie syndrome, genetic syndrome, growth hormone, physical activityAbstract
Introduction: Prader-Willi syndrome (PWS) is a rare genetic disorder whose most characteristic and dangerous symptom is massive obesity. It develops as a result of neurohormonal abnormalities, abnormal appetite regulation and reduced energy expenditure. Due to its multifactorial nature, the treatment of obesity in PWS presents particular clinical challenges.
Materials and methods: A review of selected literature in the PubMed database was conducted, using the following keywords: “Prader Willie Syndrom”, “Phisical excercise”, “Obesity”,”Treatment”
Summary: This paper discusses the main mechanisms leading to the development of obesity in PWS, such as hypothalamic dysfunction, endocrine disruption (ghrelin, leptin, GH) and changes in body composition. Current therapeutic strategies - nutritional therapy adapted to the developmental stage of the patient, growth hormone treatment and the potential use of anti-obesity drugs - were analysed. Special attention was given to the role of physical activity, which, despite its limited effect on body weight, significantly improves fitness, muscle strength, body composition and quality of life in patients.
Conclusions: The management of obesity in PWS requires an individualised, multidirectional approach based on collaboration between the specialist team and the family. Given the limited efficacy of available therapies, further research is needed into new treatments - both pharmacological and non-pharmacological - that are better adapted to the metabolic and behavioural specificities of this patient group.
References
1. Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989;342(6247):281-285. doi:10.1038/342281a0
2. Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest. 2015;38(12):1249-1263. doi:10.1007/s40618-015-0312-9
3. Butler MG. Prader-Willi Syndrome: Obesity due to Genomic Imprinting. Curr Genomics. 2011;12(3):204-215. doi:10.2174/138920211795677877
4. Muscogiuri G, Barrea L, Faggiano F, et al. Obesity in Prader-Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches. J Endocrinol Invest. 2021;44(10):2057-2070. doi:10.1007/s40618-021-01574-9
5. Miller JL, Lynn CH, Driscoll DC, et al. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. 2011;155A(5):1040-1049. doi:10.1002/ajmg.a.33951
6. Muscogiuri G, Formoso G, Pugliese G, et al. Prader- Willi syndrome: An uptodate on endocrine and metabolic complications. Rev Endocr Metab Disord. 2019;20(2):239-250. doi:10.1007/s11154-019-09502-2
7. Khan MJ, Gerasimidis K, Edwards CA, Shaikh MG. Mechanisms of obesity in Prader-Willi syndrome. Pediatr Obes. 2018;13(1):3-13. doi:10.1111/ijpo.12177
8. Holsen LM, Zarcone JR, Brooks WM, et al. Neural mechanisms underlying hyperphagia in Prader-Willi syndrome. Obes Silver Spring Md. 2006;14(6):1028-1037. doi:10.1038/oby.2006.118
9. Holsen LM, Savage CR, Martin LE, et al. Importance of reward and prefrontal circuitry in hunger and satiety: Prader-Willi syndrome vs simple obesity. Int J Obes 2005. 2012;36(5):638-647. doi:10.1038/ijo.2011.204
10. Beauloye V, Diene G, Kuppens R, et al. High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome. Orphanet J Rare Dis. 2016;11(1):56. doi:10.1186/s13023-016-0440-0
11. Tauber M, Coupaye M, Diene G, Molinas C, Valette M, Beauloye V. Prader-Willi syndrome: A model for understanding the ghrelin system. J Neuroendocrinol. 2019;31(7):e12728. doi:10.1111/jne.12728
12. Butler MG, Moore J, Morawiecki A, Nicolson M. Comparison of leptin protein levels in Prader-Willi syndrome and control individuals. Am J Med Genet. 1998;75(1):7-12.
13. Haqq AM, Muehlbauer MJ, Newgard CB, Grambow S, Freemark M. The metabolic phenotype of Prader-Willi syndrome (PWS) in childhood: heightened insulin sensitivity relative to body mass index. J Clin Endocrinol Metab. 2011;96(1):E225-232. doi:10.1210/jc.2010-1733
14. Aycan Z, Baş VN. Prader-Willi syndrome and growth hormone deficiency. J Clin Res Pediatr Endocrinol. 2014;6(2):62-67. doi:10.4274/Jcrpe.1228
15. Noordam C, Höybye C, Eiholzer U. Prader-Willi Syndrome and Hypogonadism: A Review Article. Int J Mol Sci. 2021;22(5):2705. doi:10.3390/ijms22052705
16. Heksch R, Kamboj M, Anglin K, Obrynba K. Review of Prader-Willi syndrome: the endocrine approach. Transl Pediatr. 2017;6(4):274-285. doi:10.21037/tp.2017.09.04
17. Goldstone AP, Thomas EL, Brynes AE, et al. Visceral adipose tissue and metabolic complications of obesity are reduced in Prader-Willi syndrome female adults: evidence for novel influences on body fat distribution. J Clin Endocrinol Metab. 2001;86(9):4330-4338. doi:10.1210/jcem.86.9.7814
18. Miller JL, Tan M. Dietary Management for Adolescents with Prader-Willi Syndrome. Adolesc Health Med Ther. 2020;11:113-118. doi:10.2147/AHMT.S214893
19. Alsaif M, Elliot SA, MacKenzie ML, Prado CM, Field CJ, Haqq AM. Energy Metabolism Profile in Individuals with Prader-Willi Syndrome and Implications for Clinical Management: A Systematic Review. Adv Nutr Bethesda Md. 2017;8(6):905-915. doi:10.3945/an.117.016253
20. Miller JL, Lynn CH, Shuster J, Driscoll DJ. A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome. J Hum Nutr Diet Off J Br Diet Assoc. 2013;26(1):2-9. doi:10.1111/j.1365-277X.2012.01275.x
21. Carrel AL, Moerchen V, Myers SE, Bekx MT, Whitman BY, Allen DB. Growth hormone improves mobility and body composition in infants and toddlers with Prader-Willi syndrome. J Pediatr. 2004;145(6):744-749. doi:10.1016/j.jpeds.2004.08.002
22. Festen DAM, Wevers M, de Weerd AW, et al. Psychomotor development in infants with Prader-Willi syndrome and associations with sleep-related breathing disorders. Pediatr Res. 2007;62(2):221-224. doi:10.1203/PDR.0b013e31809871dd
23. Passone CBG, Pasqualucci PL, Franco RR, et al. PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW. Rev Paul Pediatr Orgao Of Soc Pediatr Sao Paulo. 2018;36(3):345-352. doi:10.1590/1984-0462/;2018;36;3;00003
24. Consoli A, Çabal Berthoumieu S, Raffin M, et al. Effect of topiramate on eating behaviours in Prader-Willi syndrome: TOPRADER double-blind randomised placebo-controlled study. Transl Psychiatry. 2019;9(1):274. doi:10.1038/s41398-019-0597-0
25. Miller JL, Linville TD, Dykens EM. Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: a pilot study. J Pediatr Endocrinol Metab JPEM. 2014;27(1-2):23-29. doi:10.1515/jpem-2013-0116
26. Puri MR, Sahl R, Ogden S, Malik S. Prader-Willi Syndrome, Management of Impulsivity, and Hyperphagia in an Adolescent. J Child Adolesc Psychopharmacol. 2016;26(4):403-404. doi:10.1089/cap.2015.0240
27. Ng NBH, Low YW, Rajgor DD, et al. The effects of glucagon-like peptide (GLP)-1 receptor agonists on weight and glycaemic control in Prader-Willi syndrome: A systematic review. Clin Endocrinol (Oxf). 2022;96(2):144-154. doi:10.1111/cen.14583
28. Kabasakalian A, Ferretti CJ, Hollander E. Oxytocin and Prader-Willi Syndrome. Curr Top Behav Neurosci. 2018;35:529-557. doi:10.1007/7854_2017_28
29. Crinò A, Fintini D, Bocchini S, Grugni G. Obesity management in Prader-Willi syndrome: current perspectives. Diabetes Metab Syndr Obes Targets Ther. 2018;11:579-593. doi:10.2147/DMSO.S141352
30. Butler MG, Theodoro MF, Bittel DC, Donnelly JE. Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects. Am J Med Genet A. 2007;143A(5):449-459. doi:10.1002/ajmg.a.31507
31. Bellicha A, Coupaye M, Hocquaux L, Speter F, Oppert JM, Poitou C. Increasing physical activity in adult women with Prader-Willi syndrome: A transferability study. J Appl Res Intellect Disabil JARID. 2020;33(2):258-267. doi:10.1111/jar.12669
32. Vismara L, Romei M, Galli M, et al. Clinical implications of gait analysis in the rehabilitation of adult patients with “Prader-Willi” Syndrome: a cross-sectional comparative study (“Prader-Willi” Syndrome vs matched obese patients and healthy subjects). J Neuroengineering Rehabil. 2007;4:14. doi:10.1186/1743-0003-4-14
33. Rubin DA, Wilson KS, Orsso CE, et al. A 24-Week Physical Activity Intervention Increases Bone Mineral Content without Changes in Bone Markers in Youth with PWS. Genes. 2020;11(9):984. doi:10.3390/genes11090984
34. Shields N, Bennell KL, Radcliffe J, Taylor NF. Is strength training feasible for young people with Prader-Willi syndrome? A phase I randomised controlled trial. Physiotherapy. 2020;106:136-144. doi:10.1016/j.physio.2019.01.016
35. Capodaglio P, Cimolin V, Vismara L, et al. Postural adaptations to long-term training in Prader-Willi patients. J Neuroengineering Rehabil. 2011;8:26. doi:10.1186/1743-0003-8-26
36. Morales JS, Valenzuela PL, Pareja-Galeano H, Rincón-Castanedo C, Rubin DA, Lucia A. Physical exercise and Prader-Willi syndrome: A systematic review. Clin Endocrinol (Oxf). 2019;90(5):649-661. doi:10.1111/cen.13953
37. Shields N, Westle A, Bennell KL, Taylor NF. Physiotherapists perceived developing positive rapport facilitates participation in exercise among people with Prader-Willi Syndrome: a qualitative study. Disabil Rehabil. 2020;42(24):3475-3480. doi:10.1080/09638288.2019.1597176
38. Rubin DA, Wilson KS, Honea KE, et al. An evaluation of the implementation of a parent-led, games-based physical activity intervention: the Active Play at Home quasi-randomized trial. Health Educ Res. 2019;34(1):98-112. doi:10.1093/her/cyy035
39. Bellicha A, Coupaye M, Mosbah H, Tauber M, Oppert JM, Poitou C. Physical Activity in Patients with Prader-Willi Syndrome-A Systematic Review of Observational and Interventional Studies. J Clin Med. 2021;10(11):2528. doi:10.3390/jcm10112528
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Copyright (c) 2025 Bartosz Łuniewski, Angelika Macko, Maria Łuniewska, Kamil Klaudiusz Lauko, Monika Olszańska, Iga Maria Nowicka, Aleksandra Jurczuk
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