Hybrid physical training program on health and physical function in an obese adolescent with chromosome 16 syndrome: a case report
DOI:
https://doi.org/10.11606/issn.1679-9836.v103i5e-212328Keywords:
Case report, Adolescent, Genetic syndrome, Physical exercise, ObesityAbstract
Introduction: Chromosome 16 syndrome is a disorder generated by microdeletions of variable sizes in region 11.2 of this chromosome. The phenotype may include cognitive deficit, severe obesity, and neurodevelopmental delay, affecting health-related quality of life. Objective: to report the effects of a physical exercise program on the quality of life and functional capacity of a young person with chromosome 16 syndrome. Method: the study is a case report, which consisted of a 20-week physical exercise program, with aerobic and resistance exercises, in the hybrid model (Home-Based Exercise and face-to-face/supervised). Information about the participant was sought and measured: body mass, height, body circumference, and applied the tests Timed Up and Go (TUG) and Five Times Sit-to-Stand Test, (5TSTS), to assess physical function, pre and post-intervention. The health-related quality of life of the young adolescent and his caregivers was assessed through the Pediatric Quality Of Life Inventory (PedsQL™). The data were analyzed using descriptive statistics. Results: the participant was a 14-year-old male adolescent, physically inactive and obese (body mass index ~ 65kg / m2). The evaluations did not demonstrate morphological changes, however, there was an improvement in the performance of the functional tests, being 28.5% in the TUG and 10.9% in the 5TSTS, suggesting progress in functional capacity. Regarding the quality of life, favorable changes were observed to improve the social (absolute variation: 65 points), physical and emotional (absolute variation: 50 points in both) aspects in the perception of the adolescent. In the "Family Impact Module” all domains were modified, with the exception of “activities of daily living”, “communication with other people” stands out with greater variation. Conclusion: this study demonstrated that the regular practice of physical exercise, in a hybrid way, provided positive results in the physical function, emotional and social health of the youthful with the syndrome.
Downloads
References
Kleinendorst L, van den Heuvel LM, Henneman L, van Haelst MM. Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome. Eur J Hum Genet. 2020;28(9):1196-204. Doi: 10.1038/s41431-020-0644-6.
Kang J, Lee CN, Su YN, Tai YY, Chen CL, Chen HY, Lin SY. Clinical outcomes of fetuses with chromosome 16 short arm copy number variants. Mol Genet Genomic Med. 2023;11(7):e2174. Doi: 10.1002/mgg3.2174.
Mitrakos AK, Kosma K, Makrythanasis P, Tzetis M. The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements. Genes (Basel). 2024;15(8):1053. Doi: 10.3390/genes15081053.
Rein B, Yan Z. 16p11.2 Copy Number Variations and Neurodevelopmental Disorders. Trends Neurosci. 2020;43(11):886-901. Doi:10.1016/j.tins.2020.09.001
Chung WK, Roberts TP, Sherr EH, Snyder LG, Spiro JE. 16p11.2 deletion syndrome. Curr Opin Genet Dev. 2021;68:49-56. Doi:10.1016/j.gde.2021.01.011.
Giannopoulou EZ, Zorn S, Schirmer M, et al. Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion. Horm Res Paediatr. 2022;95(2):37-48. Doi:10.1159/000520402
Kaur Y, de Souza RJ, Gibson WT, Meyre D. A systematic review of genetic syndromes with obesity. Obes Rev. 2017;18(6):603-34. Doi:10.1111/obr.12531.
Tomlinson DJ, Erskine RM, Morse CI, Winwood K, Onambele-Pearson G. The impact of obesity on skeletal muscle strength and structure through adolescence to old age. Biogerontology. 2016;17(3):67-83. Doi:10.1007/s10522-015-5219626-4.
Shultz SP, Anner J, Hills AP. Paediatric obesity, physical activity and the musculoskeletal system. Obes Rev. 2009;10(5): 76-82. Doi:10.1111/j.1467-789X.2009.00587.
Kalinderi K, Goula V, Sapountzi E, Tsinopoulou VR, Fidani L. Syndromic and Monogenic Obesity: New Opportunities Due to Genetic-Based Pharmacological Treatment. Children. 2024;11(2):153. Doi: https://doi.org/10.3390/children11020153.
Kohut T, Robbins J, Panganiban J. Update on childhood/adolescent obesity and its sequela. Curr Opin Pediatr. 2019;31(5):45-53. Doi:10.1097/MOP.0000000000000786.
Fonseca-Junior SJ, Sá CG, Rodrigues PA, Oliveira AJ, Fernandes-Filho J. Physical exercise and morbid obesity: a systematic review. Arq Bras Cir Dig. 2013;26 Suppl 1:67-73. Doi:10.1590/s0102-67202013000600015.
Lisón JF, Real-Montes JM, Torró I, Arguisuelas MD, Alvarez-Pitti J, Martínez-Gramage J, et al. Exercise intervention in childhood obesity: a randomized controlled trial comparing hospital-versus home-based groups. Acad Pediatr. 2012;12(4):19-35. Doi:10.1016/j.acap.2012.03.003.
Aoike DT, Baria F, Kamimura MA, Ammirati A, Cuppari L. Home-based versus center-based aerobic exercise on cardiopulmonary performance, physical function, quality of life and quality of sleep of overweight patients with chronic kidney disease. Clin Exp Nephrol. 2018;22(1):87-98. Doi:10.1007/s10157-017-1429-2.
Crowe S, Cresswell K, Robertson A, Huby G, Avery A, Sheikh A. The case study approach. BMC Med Res Methodol. 2011;11:100. Doi:10.1186/1471-2288-11-100
Klatchoian DA, Len CA, Terreri MT, Silva M, Itamoto C, Ciconelli RM, et al. Quality of life of children and adolescents from São Paulo: reliability and validity of the Brazilian version of the Pediatric Quality of Life Inventory version 4.0 Generic Core Scales. J Pediatr (Rio J). 2008;84(4):08-15. Doi:10.2223/JPED.1788.
Onis M, Onyango AW, Borghi E, Siyam A, Nishida C, Siekmann J. Development of a WHO growth reference for school-aged children and adolescents. Bull World Health Organ. 2007;85(9):60-7. Doi:10.2471/blt.07.043497
Heyward V.; Stolarczyk L. Avaliação da Composição Corporal Aplicada. Editora Manole, 2000.
Ben-Noun L, Sohar E, Laor A. Neck circumference as a simple screening measure for identifying overweight and obese patients. Obes Res. 2001;9(8)70-7. Doi:10.1038/oby.2001.61.
Taylor RW, Jones IE, Williams SM, Goulding A. Evaluation of waist circumference, waist-to-hip ratio, and the conicity index as screening tools for high trunk fat mass, as measured by dual-energy X-ray absorptiometry, in children aged 3-19 y. Am J Clin Nutr. 2000;72(2):90-5. Doi:10.1093/ajcn/72.2.490.
Silveira MB, Filippin LI. Timed Up and Go como ferramenta de screening para fragilidade em idosos fisicamente ativos. Cad Saude Colet. 2017;25(4):89-93. Doi: http://dx.doi.org/10.1590/1414-462x201700040251.
Collado-Mateo D, Madeira P, Dominguez-Muñoz FJ, Villafaina S, Tomas-Carus P, Parraca JA. The Automatic Assessment of Strength and Mobility in Older Adults: A Test-Retest Reliability Study. Medicina. 2019;55(6):270. Doi: https://doi.org/10.3390/medicina55060270.
Varni JW, Seid M, Kurtin PS. PedsQL 4.0: reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations. Med Care. 2001;39(8):800-12. Doi:10.1097/00005650-200108000-00006.
Borg GA. Psychophysical bases of perceived exertion. Med Sci Sports Exerc. 1982;14(5):77-81. PMID: 7154893.
Poeta LS, Silva DMF, Giuliano ICB. Qualidade de vida relacionada à saúde de crianças obesas. Rev Assoc Med Bras. 2010;56(2), 68-72. Doi:10.1590/s0104-42302010000200014.
Lira VA, Farinatti PTV, Araújo CGS. As ações de sentar e levantar do solo são influenciadas por variáveis morfofuncionais. Rev. Paul. Educ. Fís. 2002;16(2):30-41. Doi: 10.11606/issn.2594-5904.rpef.2002.138748.
Downloads
Published
Issue
Section
License
Copyright (c) 2024 Caroline Fogagnolo, Marco Carlos Uchida
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
