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Martínez-Espinosa, R.M.; Molina Vila, M.D.; Reig García-Galbis, M. Down Syndrome. Encyclopedia. Available online: (accessed on 12 April 2024).
Martínez-Espinosa RM, Molina Vila MD, Reig García-Galbis M. Down Syndrome. Encyclopedia. Available at: Accessed April 12, 2024.
Martínez-Espinosa, Rosa María, Mariola D Molina Vila, Manuel Reig García-Galbis. "Down Syndrome" Encyclopedia, (accessed April 12, 2024).
Martínez-Espinosa, R.M., Molina Vila, M.D., & Reig García-Galbis, M. (2020, June 24). Down Syndrome. In Encyclopedia.
Martínez-Espinosa, Rosa María, et al. "Down Syndrome." Encyclopedia. Web. 24 June, 2020.
Down Syndrome

Down Syndrome (DS) (OMIM#190685, Online Mendelian Inheritance in Man®, An Online Catalog of Human Genes and Genetic Disorders) is a genetic disorder caused by a trisomy of chromosome 21 and is the most common genetic cause of intellectual disability (ID).

Down’s syndrome Trisomy 21 intellectual disability overweight obesity aging

1. Introduction

DS is associated with significant health problems as diseases such as congenital heart disease, obstructive sleep apnea, celiac disease and endocrinopathologies. Endocrine disorders are usually characterized by thyroid disorders, low bone mass, diabetes, short stature and propensity to be overweight/obese[1][2].

2. Impact

Life expectancy of people with DS has increased significantly from 12 years in 1949, to 60 years in 2004, and it is expected to increase in the near future[1][2]. Unfortunately, the increase in life expectancy is not parallel to the increase in the period of life with optimal health. Accelerated aging is identified in the case of DS based on two aspects: a. Clinical-pathological characteristics of the subject; b. Monitoring of molecular markers related to biological age and the aging process, highlighting the shortening of the telomeres[1] . Thus, several studies have connected the shortening of the telomeres with obesity, and particularly with the increase of BMI and adiposity causing accelerated aging[3][4].

Currently, there is a higher prevalence of overweight in ID patients (≥18 years) compared to those not affected by IDs, both in obesity (38.3% vs, 28%) and in morbid obesity (7.4% vs, 4.2%)[5]. Prevalence in overweight and obesity varied between 23–70% in DS patients (13.3–52.9 and 0–62.5%). Thus, young people with DS have higher rates of overweight and obesity than young people without DS[6].

The causes of the development of overweight and obesity in DS are: hypotonia (decreased muscle tone), susceptibility to systemic inflammation, metabolic diseases and / or slow metabolism[7]. Usually, people affected by DS consume less healthy food, and show physical limitations, depression, and lack of social and financial support. Besides, medications contribute to weight gain[8]. The key challenge for this field of knowledge in incoming years will be to identify therapeutic intervention strategies for weight loss that reduce body fat and systemic inflammation[6][9]. Therefore, there is a need to increase evidence-based clinical knowledge, with the aim of improving existing care programs[2][10][11].


  1. Franceschi, C.; Garagnani, P.; Gensous, N.; Bacalini, M.G.; Conte, M.; Salvioli, S. Accelerated bio‐cognitive aging in Down syndrome: State of the art and possible deceleration strategies. Aging Cell 2019, 18, e12903, doi:10.1111/acel.12903.
  2. Whooten, R.; Schmitt, J.; Schwartz, A. Endocrine manifestations of Down syndrome. Curr. Opin. Endo-crinol. Diabetes Obes. 2018, 25, 61–66, doi:10.1097/med.0000000000000382.
  3. Kennedy, B.K.; Berger, S.L.; Brunet, A.; Campisi, J.; Cuervo, A.M.; Epel, E.S.; Franceschi, C.; Lithgow, G.J.; Morimoto, R.I.; Pessin, J.E.; et al. Geroscience: Linking aging to chronic disease. Cell 2014, 159, 709–713, doi:10.1016/j.cell.2014.10.039.
  4. Tzanetakou, I.P.; Katsilambros, N.L.; Benetos, A.; Mikhailidis, D.P.; Perrea, D.N. Is obesity linked to aging? Ageing Res. Rev. 2012, 11, 220–229, doi:10.1016/j.arr.2011.12.003.
  5. Hsieh, K.; Rimmer, J.H.; Heller, T. Obesity and associated factors in adults with intellectual disability. J. Intellect. Disabil. Res. 2013, 58, 851–863, doi:10.1111/jir.12100.
  6. Bertapelli, F.; Pitetti, K.H.; Agiovlasitis, S.; Guerra-Junior, G. Overweight and obesity in children and adolescents with Down syndrome—prevalence, determinants, consequences, and interventions: A liter-ature review. Res. Dev. Disabil. 2016, 57, 181–192, doi:10.1016/j.ridd.2016.06.018.
  7. Brantmüller, É.; Gyuró, M.; Karácsony, I. Development of Walking and Self-sufficiency Ability Related to Nutrition among People with Down Syndrome. Pr. Theory Syst. Educ. 2015, 10, 165–176, doi:10.1515/ptse-2015-0016.
  8. Cushing, P.; Spear, D.; Novak, P.; Rosenzweig, L.; Wallace, L.S.; Conway, C.; Wittenbrook, W.; Lemons, S.; Medlen, J.G. Academy of Nutrition and Dietetics: Standards of Practice and Standards of Professional Performance for Registered Dietitians (Competent, Proficient, and Expert) in Intellectual and Develop-mental Disabilities. J. Acad. Nutr. Diet. 2012, 112, 1454–1464.e35, doi:10.1016/j.jand.2012.06.365.
  9. Frasca, D.; Blomberg, B.B. Adipose Tissue Inflammation Induces B Cell Inflammation and Decreases B Cell Function in Aging. Front. Immunol. 2017, 8, 1003, doi:10.3389/fimmu.2017.01003.
  10. Capone, G.; Chicoine, B.; Bulova, P.; Stephens, M.; Hart, S.J.; Crissman, B.; Videlefsky, A.; Myers, K.; Roizen, N.; Esbensen, A.; et al. Co-occurring medical conditions in adults with Down syndrome: A sys-tematic review toward the development of health care guidelines. Am. J. Med. Genet. Part A 2017, 176, 116–133, doi:10.1002/ajmg.a.38512.
  11. Harris, L.; Melville, C.; Murray, H.; Hankey, C. The effects of multi-component weight management interventions on weight loss in adults with intellectual disabilities and obesity: A systematic review and meta-analysis of randomised controlled trials. Res. Dev. Disabil. 2018, 72, 42–55, doi:10.1016/j.ridd.2017.10.021.
Subjects: Pathology
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Update Date: 05 Nov 2020