Chooi YC, Ding C, Magkos F. The epidemiology of obesity. Metabolism. 2019;92:6–10. https://doi.org/10.1016/j.metabol.2018.09.005.

Article  CAS  PubMed  Google Scholar 

Agha M, Agha R. The rising prevalence of obesity: part a: impact on public health. Int J Surg Oncol. 2017;2:17. https://doi.org/10.1097/IJ9.0000000000000017.

Article  Google Scholar 

WHO Technical Counsultation. Obesity: preventing and managing the global epidemic. WHO Consult 2000. 2000;0512–3054 (Print).

Weir CB, Jan A. BMI classification percentile and cut off points [internet]. StatPearls. 2022:31082114. https://www.ncbi.nlm.nih.gov/books/NBK541070/.

Reddon H, Guéant J-L, Meyre D. The importance of gene–environment interactions in human obesity. Clin Sci. 2016;130:1571–97. https://doi.org/10.1042/CS20160221.

Article  CAS  Google Scholar 

Sandholt CH, Hansen T, Pedersen O. Beyond the fourth wave of genome-wide obesity association studies. Nutr Diabetes. 2012;2:e37. https://doi.org/10.1038/nutd.2012.9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

• Kleinendorst L, Abawi O, van der Voorn B, Jongejan MHTM, Brandsma AE, Visser JA, et al. Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center. Buchner DA, editor. PLoS One. 2020;15:e0232990. https://doi.org/10.1371/journal.pone.0232990. Investigation of a large pediatric obesity cohort, with multidisciplinary assessment; included biochemical and hormonal evaluation and genetic testing.

•• Kaur Y, de Souza RJ, Gibson WT, Meyre D. A systematic review of genetic syndromes with obesity. Obes Rev. 2017;18:603–34. https://doi.org/10.1111/obr.12531. A systematic review about syndromic obesity. Highlights the genetic heterogeneity of syndromic obesity and that there are many gaps in knowledge, requiring increased clinical and genetic research.

• Kleinendorst L, Massink M, Cooiman MI, Savas M, van der Baan-Slootweg OH, Roelants RJ, et al. Genetic obesity: next-generation sequencing results of 1230 patients with obesity. J Med Genet. 2018;55:578–86. https://doi.org/10.1136/jmedgenet-2018-105315. Investigation of a large obesity cohort using NGS-based gene panel analysis. There was a higher yield for the pediatric group, which reflects that pediatric obesity has a greater probability of having a monogenic origin.

•• D’Angelo CS, Varela MC, De Castro CIE, Otto PA, Perez ABA, Lourenço CM, et al. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. Mol Cytogenet BioMed central ltd. 2018;11. https://doi.org/10.1186/s13039-018-0363-7. Microarray investigation (for CNVs) of a large syndromic obesity cohort. Highlights the genetic heterogeneity of syndromic obesity, in addition to the difficulty in diagnosis.

Huvenne H, Dubern B, Clément K, Poitou C. Rare genetic forms of obesity: clinical approach and current treatments in 2016. Obes Facts. 2016;9:158–73. https://doi.org/10.1159/000445061.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Clément K, Mosbah H, Poitou C. Rare genetic forms of obesity: from gene to therapy. Physiol Behav. 2020;227:113134. https://doi.org/10.1016/j.physbeh.2020.113134.

Article  CAS  PubMed  Google Scholar 

Geets E, Meuwissen MEC, Van Hul W. Clinical, molecular genetics and therapeutic aspects of syndromic obesity. Clin Genet. 2019;95:23–40. https://doi.org/10.1111/cge.13367.

Article  CAS  PubMed  Google Scholar 

Kehinde TA, Bhatia A, Olarewaju B, Shoaib MZ, Mousa J, Osundiji MA. Syndromic obesity with neurodevelopmental delay: opportunities for targeted interventions. Eur J Med Genet. 2022;65:104443. https://doi.org/10.1016/j.ejmg.2022.104443.

Article  CAS  PubMed  Google Scholar 

Delrue M-A, Michaud J. Fat chance: genetic syndromes with obesity. Clin Genet. 2004;66:83–93. https://doi.org/10.1111/j.0009-9163.2004.00300.x.

Article  PubMed  Google Scholar 

Micleaa D, Al-Khzouza C, Osan S, Bucerzan S, Cret V, Popp RA, et al. Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability. J Pediatr Endocrinol Metab. 2019;32:667–74. https://doi.org/10.1515/jpem-2018-0439.

Article  PubMed  Google Scholar 

Campbell LVC. Genetics of obesity. Aust Fam Physician. 2017;46:456–9. https://www.racgp.org.au/afp/2017/july/genetics-of-obesity/.

Google Scholar 

Milani D, Cerutti M, Pezzani L, Maffei P, Milan G, Esposito S. Syndromic obesity: clinical implications of a correct diagnosis. Ital J Pediatr. 2014;40:33. https://doi.org/10.1186/1824-7288-40-33.

Article  PubMed  PubMed Central  Google Scholar 

Wiegand S, Krude H. Monogene und syndromale Krankheitsbilder bei morbider Adipositas. Internist (Berl). 2015;56:111–20. https://doi.org/10.1007/s00108-014-3532-8.

Article  CAS  PubMed  Google Scholar 

Lionti T, Reid SM, White SM, Rowell MM. A population-based profile of 160 Australians with Prader-Willi syndrome: trends in diagnosis, birth prevalence and birth characteristics. Am J Med Genet Part A. 2015;167:371–8. https://doi.org/10.1002/ajmg.a.36845.

Article  Google Scholar 

Thomson A, Glasson E, Bittles A. A long-term population-based clinical and morbidity review of Prader-Willi syndrome in Western Australia. J Intellect Disabil Res. 2006;50:69–78. https://doi.org/10.1111/j.1365-2788.2005.00770.x

Article  CAS  PubMed  Google Scholar 

Vogels A, Van Den Ende J, Keymolen K, Mmortier G, Devriendt K, Legius E, et al. Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet. 2004;2012:238–40. https://doi.org/10.1038/sj.ejhg.5201135.

Article  CAS  Google Scholar 

Whittington J, Holland A, Webb T, Butler J, Clarke D, Boer H. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK health region. J Med Genet. 2001;38:792–8. https://doi.org/10.1136/jmg.38.11.792.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ehara H, Kousaku O, Kenzo T. Frequency of the Prader –Willi syndrome in the san-in district. Japan Brain Dev. 1995;17:324–6. https://doi.org/10.1016/0387-7604(95)00060-o.

Article  CAS  PubMed  Google Scholar 

Burd L, Besely B, Martsolf J, Korbeshian J. Prevalence study of Prader-Willi syndrome in North Dakota. Am J Med Genet. 1990;37:97–9. https://doi.org/10.1002/ajmg.1320370122.

Article  CAS  PubMed  Google Scholar 

Akefeldt A, Gillberg C, Larsson C. Prader-Willi syndrome in a Swedish rural county: epidemiological aspects. Dev Med Child Neurol. 1991;33:715–21. https://doi.org/10.1111/j.1469-8749.1991.tb14950.x.

Article  CAS  PubMed  Google Scholar 

Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med. 2012;14:10–26. https://doi.org/10.1038/gim.0b013e31822bead0.

Article  CAS  PubMed  Google Scholar 

Fridman C, Koiffmann CP. Genomic imprinting: genetic mechanisms and phenotypic consequences in Prader-Willi and Angelman syndromes. Genet Mol Biol. 2000;23:715–24. https://doi.org/10.1590/S1415-47572000000400004.

Article  CAS  Google Scholar 

Butler MG, Miller JL, Forster JL. Prader-Willi Syndrome - clinical genetics, diagnosis and treatment approaches: an update. Curr Pediatr Rev. 2019;15:207–44. https://doi.org/10.2174/1573396315666190716120925.

Article  PubMed  PubMed Central  Google Scholar 

Driscoll DJ, Miller JL, Cassidy SB. Prader-Willi Syndrome [Internet]. GeneReviews®. 1993. https://www.ncbi.nlm.nih.gov/books/NBK1330/.

Khan MJ, Gerasimidis K, Edwards CA, Shaikh MG. Mechanisms of obesity in Prader–Willi syndrome. Pediatr. Obes. John Wiley and Sons Ltd; 2016. p. 3–13. https://doi.org/10.1111/ijpo.12177.

Book  Google Scholar 

Einfeld SL, Kavanagh SJ, Smith A, Evans EJ, Tonge BJ, Taffe J. Mortality in Prader-Willi syndrome. Am J Ment Retard. 2006;111:193–8. https://doi.org/10.1352/0895-8017(2006)111[193:MIPS]2.0.CO;2.

Article  PubMed  PubMed Central  Google Scholar 

Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS, et al. GrowthHormone research society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome. J Clin Endocrinol Metab. 2013;98:E1072–87. https://doi.org/10.1210/jc.2012-3888.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alves C, Franco RR. Prader-Willi syndrome: endocrine manifestations and management. Arch. Endocrinol Metab. 2020;64:223–34. https://doi.org/10.20945/2359-3997000000248.

Article  Google Scholar 

Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Investig. 2015;38:1249–63. https://doi.org/10.1007/s40618-015-0312-9.

Article  CAS  Google Scholar 

Tauber M, Hoybye C. Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction. Lancet Diabetes Endocrinol. 2021;9:235–46. https://doi.org/10.1016/S2213-8587(21)00002-4.

Article  CAS  PubMed  Google Scholar 

Ehrhart F, Janssen KJM, Coort SL, Evelo CT, Curfs LMG. Prader-Willi syndrome and Angelman syndrome: visualisation of the molecular pathways for two chromosomal disorders. World J Biol Psychiatry. 2019;20:670–82. https://doi.org/10.1080/15622975.2018.1439594.

Article  PubMed  Google Scholar 

Bochukova EG. Transcriptomics of the Prader–Willi syndrome hypothalamus; 2021. p. 369–79. https://doi.org/10.1016/B978-0-12-820683-6.00027-0.

Book  Google Scholar 

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. https://doi.org/10.1111/jne.12728.

Miller JL, Lacroix A, Bird LM, Shoemaker AH, Haqq A, Deal CL, et al. The efficacy, safety, and pharmacology of a ghrelin O-acyltransferase inhibitor for the treatment of Prader-Willi Syndrome. J Clin Endocrinol Metab. 2022;107:e2373–80. https://doi.org/10.1210/clinem/dgac105.

Article  PubMed  PubMed Central  Google Scholar 

Mahmoud R, Kimonis V, Butler MG. Clinical Trials in Prader–Willi Syndrome: A Review. Int J Mol Sci. 2023;24:2150. https://doi.org/10.3390/ijms24032150.

Article  CAS  PubMed  PubMed Central