Book contents
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Neural Tube Defects and Patterning Defects
- Hydrocephalus
- Neuronal Migration Disorders
- Genetic Syndromes and Phakomatoses
- Chapter 41 Fragile X Syndrome
- Chapter 42 Down Syndrome - Trisomy 21
- Chapter 43 Edwards Syndrome - Trisomy 18
- Chapter 44 Patau Syndrome - Trisomy 13
- Chapter 45 Tuberous Sclerosis Complex
- Chapter 46 Sturge-Weber Syndrome
- Chapter 47 Neurocutaneous Melanosis
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Chapter 42 - Down Syndrome - Trisomy 21
from Genetic Syndromes and Phakomatoses
Published online by Cambridge University Press: 07 August 2021
Book contents
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Neural Tube Defects and Patterning Defects
- Hydrocephalus
- Neuronal Migration Disorders
- Genetic Syndromes and Phakomatoses
- Chapter 41 Fragile X Syndrome
- Chapter 42 Down Syndrome - Trisomy 21
- Chapter 43 Edwards Syndrome - Trisomy 18
- Chapter 44 Patau Syndrome - Trisomy 13
- Chapter 45 Tuberous Sclerosis Complex
- Chapter 46 Sturge-Weber Syndrome
- Chapter 47 Neurocutaneous Melanosis
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Summary
Down syndrome (DS) or trisomy 21 is a chromosomal disorder caused by the presence of an extra copy of chromosome 21 in some or all cells. This condition belongs to aneuploidies and manifests with intellectual disability, typical facial appearance, and multiple comorbid pathologies. The syndrome was fully described in 1866 by a British physician, John Langdon Down, while the genetic cause, i.e., trisomy 21, was discovered in 1959 [1]. Trisomy 21 is the most common chromosomal anomaly in humans, caused by nondisjunction of chromosome 21 in a parent who is chromosomally normal. The incidence of DS is 1 in 690–750 births, and the risk of DS occurrence increases with the parental age (reaching 1 in 270 for women age 35–39) [1, 2, 3]. However, the probability of having a second child with DS is greater for a young female carrying a balanced translocation than for a healthy middle-aged woman [1].
- Type
- Chapter
- Information
- Perinatal Neuropathology , pp. 260 - 264Publisher: Cambridge University PressPrint publication year: 2021
References
Hickey, F, Hickey, E, Summar, KL. Medical update for children with Down syndrome for the pediatrician and family practitioner. Adv Pediatr. 2012;59(1):137–57.Google Scholar
Ergaz-Shaltiel, Z, Engel, O, Erlichman, I, Naveh, Y, Schimmel, MS, Tenenbaum, A. Neonatal characteristics and perinatal complications in neonates with Down syndrome. Am J Med Gene. 2017;173(5):1279–86.Google ScholarPubMed
ACOG Practice Bulletin No. 88. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110(6):1459–67.Google Scholar
Agarwal Gupta, N, Kabra, M. Diagnosis and management of Down syndrome. Indian J Pediatr. 2014;81(6):560–7.CrossRefGoogle ScholarPubMed
Ostermaier, KK. Down syndrome: Clinical features and diagnosis. UpToDate. 2018 Available from: www.uptodate.com/contents/down-syndrome-clinical-features-and-diagnosis.Google Scholar
Bull, MJ, Committee on genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393–406.Google Scholar
Myers, BA, Pueschel, SM. Psychiatric disorders in persons with Down syndrome. J Nerv Ment Dis. 1991;179(10):609–13.CrossRefGoogle ScholarPubMed
Kent, L, Evans, J, Paul, M, Sharp, M. Comorbidity of autistic spectrum disorders in children with Down syndrome. Dev Med Child Neurol. 1999;41(3):153–8.CrossRefGoogle ScholarPubMed
Lai, F, Williams, RS. A prospective study of Alzheimer disease in Down syndrome. Arch Neurol. 1989;46(8):849–53.CrossRefGoogle ScholarPubMed
Visser, FE, Aldenkamp, AP, van Huffelen, AC, Kuilman, M, Overweg, J, van Wijk, J. Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome. Am J Ment Retard. 1997;101(4):400–12.Google Scholar
Geggel, RL, O’Brien, JE, Feingold, M. Development of valve dysfunction in adolescents and young adults with Down syndrome and no known congenital heart disease. J Pediatr. 1993;122:821–3.Google Scholar
Hamada, T, Gejyo, F, Koshino, Y, Murata, T, Omori, M, Nishio, M, et al. Echocardiographic evaluation of cardiac valvular abnormalities in adults with Down’s syndrome. Tohoku J Exp Med. 1998;185(1):31–5.CrossRefGoogle ScholarPubMed
Bush, D, Galambos, C, Ivy, DD, Abman, SH, Wolter-Warmerdam, K, Hickey, F. Clinical characteristics and risk factors for developing pulmonary hypertension in children with Down syndrome. J Pediatr. 2018;202:212–19.Google Scholar
Thomas, K, Bourke, J, Girdler, S, Bebbington, A, Jacoby, P, Leonard, H. Variation over time in medical conditions and health service utilization of children with Down syndrome. J Pediatr. 2011;158(2):194–200.e1.CrossRefGoogle ScholarPubMed
McDowell, KM, Craven, DI. Pulmonary complications of Down syndrome during childhood. J Pediatr. 2011;158(2):319–25.Google Scholar
Roizen, NJ, Mets, MB, Blondis, TA. Ophthalmic disorders in children with Down syndrome. Dev Med Child Neurol. 1994;36(7):594–600.CrossRefGoogle ScholarPubMed
Tedeschi, AS, Roizen, NJ, Taylor, HG, Murray, G, Curtis, CA, Parikh, AS. The prevalence of congenital hearing loss in neonates with Down syndrome. J Pediatr. 2015;166(1):168–71.Google Scholar
Shott, SR, Joseph, A, Heithaus, D. Hearing loss in children with Down syndrome. Int J Pediatr Otorhinolaryngol. 2001;61(3):199–205.CrossRefGoogle ScholarPubMed
Tüysüz, B, Beker, DB. Thyroid dysfunction in children with Down’s syndrome. Acta Paediatr. 2001;90(12):1389–93.CrossRefGoogle ScholarPubMed
Van Goor, JC, Massa, GG, Hirasing, R. Increased incidence and prevalence of diabetes mellitus in Down’s syndrome. Arch Dis Child. 1997;77(2):186.Google Scholar
Fabia, J, Drolette, M. Malformations and leukemia in children with Down’s syndrome. Pediatrics. 1970;45(1):60–70.CrossRefGoogle ScholarPubMed
Mercer, ES, Broecker, B, Smith, EA, Kirsch, AJ, Scherz, HC, Massad C.Urological manifestations of Down syndrome. J Urol. 2004;171(3):1250–53.Google Scholar
Pinter, JD, Eliez, S, Schmitt, JE, Capone, GT, Reiss, AL. Neuroanatomy of Down’s syndrome: a high-resolution MRI study. Am J Psychiatry. 2001;158(10):1659–65.CrossRefGoogle ScholarPubMed
Fujii, Y, Aida, N, Niwa, T, Enokizono, M, Nozawa, K, Inoue, T. A small pons as a characteristic finding in Down syndrome: a quantitative MRI study. Brain Dev. 2017;39(4):298–305.CrossRefGoogle ScholarPubMed
Ieshima, A, Kisa, T, Yoshino, K, Takashima, S, Takeshita, K. A morphometric CT study of Down’s syndrome showing small posterior fossa and calcification of basal ganglia. Neuroradiology. 1984;26(6):493–8.Google Scholar
Blaser, S, Propst, EJ, Martin, D, Feigenbaum, A, James, AL, Shannon, P, et al. Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope. 2006;116(12):2113–19.Google Scholar
Spencer, K, Souter, V, Tul, N, Snijders, R, Nicolaides, KH. A screening program for trisomy 21 at 10–14 weeks using fetal nuchal translucency, maternal serum free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A: First-trimester screening for Down’s syndrome. Ultrasound Obstet and Gynecol. 1999;13(4):231–7.Google Scholar
Wisniewski, KE. Down syndrome children often have brain with maturation delay, retardation of growth, and cortical dysgenesis. Am J Med Genet Suppl. 1990;7:274–81.Google ScholarPubMed
Wisniewski, KE, Schmidt-Sidor, B. Postnatal delay of myelin formation in brains from Down syndrome infants and children. Clin Neuropathol. 1989;8(2):55–62.Google Scholar
Yarom, R, Sagher, U, Havivi, Y, Peled, IJ, Wexler, MR. Myofibers in tongues of Down’s syndrome. J Neuro Sci. 1986;73(3):279–87.Google Scholar
Godridge, H, Reynolds, GP, Czudek, C, Calcutt, NA, Benton, M. Alzheimer-like neurotransmitter deficits in adult Down’s syndrome brain tissue. J Neurol Neurosurg Psychiatry. 1987;50(6):775–8.Google Scholar
Inagaki, T, Morita, N, Cureoglu, S, Schachern, PA, Nomiya, S, Nomiya, R, et al. Peripheral vestibular system in Down syndrome: quantitative assessment of vestibular histopathology. Otolaryngol Head Neck Surg. 2011;144(2):280–3.Google Scholar
Abbott, M-A, Benn, P. Prenatal genetic diagnosis of Down’s syndrome. Expert Rev Mol Diagn. 2002;2(6):605–15.Google Scholar
Presson, AP, Partyka, G, Jensen, KM, Devine, OJ, Rasmussen, SA, McCabe, LL, et al. Current estimate of Down syndrome population prevalence in the United States. Journal Pediatr. 2013;163(4):1163–8.Google Scholar
- 1
- Cited by