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Complete Trisomy 21 Syndrome

MedGen UID:
1624021
•Concept ID:
C4521042
•
Disease or Syndrome

Definition

A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVComplete Trisomy 21 Syndrome

Professional guidelines

PubMed

Physiotherapy management of Down syndrome.
Shields N
J Physiother 2021 Oct;67(4):243-251. Epub 2021 Sep 10 doi: 10.1016/j.jphys.2021.08.016. PMID: 34511385
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Diagnosis and management of Down syndrome.
Agarwal Gupta N, Kabra M
Indian J Pediatr 2014 Jun;81(6):560-7. Epub 2013 Oct 15 doi: 10.1007/s12098-013-1249-7. PMID: 24127006

Recent clinical studies

Etiology

Alzheimer's disease associated with Down syndrome: a genetic form of dementia.
Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona-Iragui M
Lancet Neurol 2021 Nov;20(11):930-942. doi: 10.1016/S1474-4422(21)00245-3. PMID: 34687637Free PMC Article
Down syndrome.
Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH
Nat Rev Dis Primers 2020 Feb 6;6(1):9. doi: 10.1038/s41572-019-0143-7. PMID: 32029743Free PMC Article
Endocrine manifestations of Down syndrome.
Whooten R, Schmitt J, Schwartz A
Curr Opin Endocrinol Diabetes Obes 2018 Feb;25(1):61-66. doi: 10.1097/MED.0000000000000382. PMID: 29135488Free PMC Article
Risk factors for Down syndrome.
Coppedè F
Arch Toxicol 2016 Dec;90(12):2917-2929. Epub 2016 Sep 7 doi: 10.1007/s00204-016-1843-3. PMID: 27600794
Down syndrome--genetic and nutritional aspects of accompanying disorders.
Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113

Diagnosis

Alzheimer's disease associated with Down syndrome: a genetic form of dementia.
Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona-Iragui M
Lancet Neurol 2021 Nov;20(11):930-942. doi: 10.1016/S1474-4422(21)00245-3. PMID: 34687637Free PMC Article
Endocrine manifestations of Down syndrome.
Whooten R, Schmitt J, Schwartz A
Curr Opin Endocrinol Diabetes Obes 2018 Feb;25(1):61-66. doi: 10.1097/MED.0000000000000382. PMID: 29135488Free PMC Article
Down syndrome--genetic and nutritional aspects of accompanying disorders.
Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113
Diagnosis and management of Down syndrome.
Agarwal Gupta N, Kabra M
Indian J Pediatr 2014 Jun;81(6):560-7. Epub 2013 Oct 15 doi: 10.1007/s12098-013-1249-7. PMID: 24127006
Down's syndrome.
Roizen NJ, Patterson D
Lancet 2003 Apr 12;361(9365):1281-9. doi: 10.1016/S0140-6736(03)12987-X. PMID: 12699967

Therapy

Effectiveness of Swimming Program in Adolescents with Down Syndrome.
Naczk A, Gajewska E, Naczk M
Int J Environ Res Public Health 2021 Jul 12;18(14) doi: 10.3390/ijerph18147441. PMID: 34299891Free PMC Article
Evidences from Clinical Trials in Down Syndrome: Diet, Exercise and Body Composition.
Martínez-Espinosa RM, Molina Vila MD, Reig García-Galbis M
Int J Environ Res Public Health 2020 Jun 16;17(12) doi: 10.3390/ijerph17124294. PMID: 32560141Free PMC Article
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876
Risk factors for Down syndrome.
Coppedè F
Arch Toxicol 2016 Dec;90(12):2917-2929. Epub 2016 Sep 7 doi: 10.1007/s00204-016-1843-3. PMID: 27600794
Comparison of different therapy approaches in children with Down syndrome.
Uyanik M, Bumin G, Kayihan H
Pediatr Int 2003 Feb;45(1):68-73. doi: 10.1046/j.1442-200x.2003.01670.x. PMID: 12654073

Prognosis

Congenital anomalies and comorbidities in neonates with Down Syndrome.
Nakousi Capurro N, Cares Basualto C, Alegría Olivos A, Gaínza Lein M, López Aristizabal L, Gayan Torrente A, Ojeda Contreras V, Irarrázaval Montero MJ
Rev Chil Pediatr 2020 Oct;91(5):732-742. doi: 10.32641/rchped.vi91i5.1518. PMID: 33399638
Nutritional challenges in children and adolescents with Down syndrome.
Nordstrøm M, Retterstøl K, Hope S, Kolset SO
Lancet Child Adolesc Health 2020 Jun;4(6):455-464. doi: 10.1016/S2352-4642(19)30400-6. PMID: 32450124
Endocrine manifestations of Down syndrome.
Whooten R, Schmitt J, Schwartz A
Curr Opin Endocrinol Diabetes Obes 2018 Feb;25(1):61-66. doi: 10.1097/MED.0000000000000382. PMID: 29135488Free PMC Article
Associated congenital anomalies among cases with Down syndrome.
Stoll C, Dott B, Alembik Y, Roth MP
Eur J Med Genet 2015 Dec;58(12):674-80. Epub 2015 Nov 11 doi: 10.1016/j.ejmg.2015.11.003. PMID: 26578241
Down syndrome.
Hayes A, Batshaw ML
Pediatr Clin North Am 1993 Jun;40(3):523-35. doi: 10.1016/s0031-3955(16)38548-0. PMID: 8493063

Clinical prediction guides

Lung disease manifestations in Down syndrome.
Danopoulos S, Deutsch GH, Dumortier C, Mariani TJ, Al Alam D
Am J Physiol Lung Cell Mol Physiol 2021 Nov 1;321(5):L892-L899. Epub 2021 Sep 1 doi: 10.1152/ajplung.00434.2020. PMID: 34469245Free PMC Article
Evaluation of the craniofacial and oral characteristics of individuals with Down syndrome: A review of the literature.
Díaz-Quevedo AA, Castillo-Quispe HML, Atoche-Socola KJ, Arriola-Guillén LE
J Stomatol Oral Maxillofac Surg 2021 Dec;122(6):583-587. Epub 2021 Jan 20 doi: 10.1016/j.jormas.2021.01.007. PMID: 33484855
Ageing and Down syndrome: Neurocognitive characteristics and pharmacological treatment.
Malegiannaki AC, Katsarou D, Liolios A, Zisi V
Hell J Nucl Med 2019 Jan-Apr;22 Suppl:123-132. PMID: 30877730
Delays in Motor Development in Children with Down Syndrome.
Malak R, Kostiukow A, Krawczyk-Wasielewska A, Mojs E, Samborski W
Med Sci Monit 2015 Jul 1;21:1904-10. doi: 10.12659/MSM.893377. PMID: 26132100Free PMC Article
Mosaicism for trisomy 21: a review.
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C
Am J Med Genet A 2015 Jan;167A(1):26-39. Epub 2014 Nov 20 doi: 10.1002/ajmg.a.36861. PMID: 25412855

Recent systematic reviews

Autism and Down syndrome: early identification and diagnosis.
Diniz NLF, Parlato-Oliveira E, Pimenta PGA, Araújo LA, Valadares ER
Arq Neuropsiquiatr 2022 Jun;80(6):620-630. doi: 10.1590/0004-282X-ANP-2021-0156. PMID: 35946706Free PMC Article
Restless sleep in children: A systematic review.
DelRosso LM, Picchietti DL, Spruyt K, Bruni O, Garcia-Borreguero D, Kotagal S, Owens JA, Simakajornboon N, Ferri R; International Restless Legs Syndrome Study Group (IRLSSG)
Sleep Med Rev 2021 Apr;56:101406. Epub 2020 Dec 1 doi: 10.1016/j.smrv.2020.101406. PMID: 33341437
Neurologic complications of Down syndrome: a systematic review.
Santoro JD, Pagarkar D, Chu DT, Rosso M, Paulsen KC, Levitt P, Rafii MS
J Neurol 2021 Dec;268(12):4495-4509. Epub 2020 Sep 12 doi: 10.1007/s00415-020-10179-w. PMID: 32920658
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876
Augmentative and alternative communication in children with Down's syndrome: a systematic review.
Barbosa RTA, de Oliveira ASB, de Lima Antão JYF, Crocetta TB, Guarnieri R, Antunes TPC, Arab C, Massetti T, Bezerra IMP, de Mello Monteiro CB, de Abreu LC
BMC Pediatr 2018 May 11;18(1):160. doi: 10.1186/s12887-018-1144-5. PMID: 29751828Free PMC Article

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