Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-76fb5796d-22dnz Total loading time: 0 Render date: 2024-04-26T02:35:35.420Z Has data issue: false hasContentIssue false

8 - Early medical caretaking and follow-up

Published online by Cambridge University Press:  05 July 2011

By
Alberto Rasore Quartino
Edited by
Jean-Adolphe Rondal ,
Juan Perera  and
Donna Spiker
Alberto Rasore Quartino
Affiliation:
Ospedali Galliera
Jean-Adolphe Rondal
Affiliation:
Université de Liège, Belgium
Juan Perera
Affiliation:
Universitat de les Illes Balears, Palma de Mallorca
Donna Spiker
Affiliation:
Stanford Research Institute International
Get access

Summary

Introduction

Down syndrome (DS) is caused by trisomy of chromosome 21 and is the most common autosomal disorder in man, occurring in approximately 1/1000 newborns. Main phenotypic traits are cognitive and language impairment, neuromotor dysfunction, growth reduction, congenital heart disease, immune dysfunction and autoimmune disorders, early ageing and pathological ageing. These traits can be associated with various diseases that are partly responsible for shorter life in people with DS and for the appearance of secondary disability, which greatly affects their well-being.

The main concern of clinicians who care for children with DS is to prevent or to treat these diseases, as early as possible, in order to hamper the appearance of severe clinical consequences.

The concept of early caretaking in its common meaning is early in life – even in prenatal life, as it has been recently suggested – but another meaning can be important as well: that of early medical intervention in relation to the course of the diseases.

In the last 30 to 40 years, DS experienced outstanding changes in quality and duration of life, the causes of which are numerous and can be exemplified in early rehabilitation, in more diffuse social integration, including life in one's own family, participation in mainstream schooling and employment, and last but not least, in more sensible and accurate medical care from birth and throughout life.

A brief survey of some of the most common diseases and their treatment, pointing out early medical intervention and its meaning, follows.

Type
Chapter
Information
Neurocognitive Rehabilitation of Down Syndrome
Early Years
 , pp. 117 - 127
Publisher: Cambridge University Press
Print publication year: 2011

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Aicardi, J. (1992). Diseases of the Nervous System in Childhood. London: McKeith Press.Google ScholarPubMed
Andreou, G., Galanopoulou, C., Gourgoulianis, K., Karapetsas, A., Molyvdas, P. (2002). Cognitive status in Down syndrome individuals with sleep disorders breathing deficits (SDB). Brain and Cognition, 50, 145–149.CrossRefGoogle Scholar
Annerén, G., Magnusson, C. G. M., Nordvall, S. L. (1990). Increase in serum concentrations of IgG2 and IgG4 by selenium supplementation in children with Down's syndrome. Archives of Disease in Childhood, 65, 1353–1355.CrossRefGoogle ScholarPubMed
Annerén, G., Tuvemo, T., Gustafsson, J. (2000). Growth hormone therapy in young children with Down and Prader-Willi syndromes. Growth Hormone & IGF Research, 10(Suppl B), S87–S91.CrossRefGoogle ScholarPubMed
Anzai, Y., Ohya, T., Yanagi, K. (2006). Treatment of sleep apnea syndrome in a Down syndrome patient with behavioural problems by non-invasive positive pressure ventilation: a successful case report. No To Hattatsu/Brain and Development, 38, 32–36.Google Scholar
Bonamico, M., Mariani, P., Danesi, H. M., et al. (2001). Prevalence and clinical picture of celiac disease in Italian Down syndrome patients: a multicenter study. Journal of Pediatric Gastroenterology and Nutrition, 33, 139–143.CrossRefGoogle ScholarPubMed
Bradbury, J. (2005). High leukaemia cure rate in Down's syndrome explained. Lancet, 6, 134.CrossRefGoogle ScholarPubMed
Cohen, W. I. (2006). Current dilemmas in Down syndrome clinical care: celiac disease, thyroid disorders and atlanto-axial instability. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 142C, 141–148.CrossRefGoogle ScholarPubMed
Cominetti, M., Quartino, A. Rasore, Acutis, M. S., Vignola, G. (1985). Neonato con sindrome di Down e leucemia mieloide acuta. Difficoltà diagnostiche fra forma maligna e sindrome mieloproliferativa. Pathologica, 77, 625–630.Google Scholar
Coyle, J. T., Price, D. L., DeLong, M. R. (1983). Alzheimer's disease: a disorder of cholinergic innervation. Science, 219, 1184–1190.CrossRefGoogle ScholarPubMed
Fasano, A., Berti, I., Gerarduzzi, T., et al. (2003). Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Archives of Internal Medicine, 163, 286–292.CrossRefGoogle ScholarPubMed
Ferri, R., Curzi-Dascalova, L., Del Gracco, S., Elia, M., et al. (1997). Respiratory patterns during sleep in Down's syndrome: importance of central apnoeas. Journal of Sleep Research, 6, 134–141.CrossRefGoogle ScholarPubMed
Franceschi, C., Chiricolo, M., Licastro, F., et al. (1988). Oral zinc supplementation in Down's syndrome: restoration of thymic endocrine activity and of some immune defects. Journal of Mental Deficiency Research, 32, 169–181.Google ScholarPubMed
Goldacre, M. J., Wotton, C. J., Seagrott, V., Yeates, D. (2004). Cancer and immune related diseases associated with Down's syndrome: a record linkage study. Archives of Disease in Childhood, 89, 1014–1017.CrossRefGoogle ScholarPubMed
Guedj, F., Sébrié, C., Rivals, I., et al. (2009). Green tea polyphenols rescue of brain defects induced by overexpression of DYRK1A. PLoS ONE, 4, e4606.CrossRefGoogle ScholarPubMed
Harrel, R. J., Capp, R. H., Davis, D. R. (1981). Can nutritional supplements help mentally retarded children?Proceedings of the National Academy of Sciences United States of America, 78: 574–578.CrossRefGoogle Scholar
Heller, J. H., Spiridigliozzi, G. A., Crissman, B. G., et al. (2006). Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study. Journal of Child and Adolescent Psychopharmacology, 16, 755–765.CrossRefGoogle ScholarPubMed
Heller, J.H., Spiridigliozzi, G. A., Sullivan, J. A., et al. (2003). Donepezil for the treatment of language deficits in adults with Down syndrome. A preliminary 24-week open trial. American Journal of Medical Genetics. Part A, Seminars in Medical Genetics, 116A, 111–116.CrossRefGoogle ScholarPubMed
Johnson, N., Fahey, C., Chicoine, B., Chong, G., Gitelman, D. (2003). Effects of donepezil on cognitive functioning in Down syndrome. American Journal on Mental Retardation, 108, 367–372.2.0.CO;2>CrossRefGoogle ScholarPubMed
Karlsson, B., Gustafsson, J., Hedow, G., Ivarsson, S. A., Annerén, G. (1998). Thyroid function in children and adolescents with Down syndrome in relation to age, sex, growth velocity and thyroid antibodies. Archives of Disease in Childhood, 79, 242–245.CrossRefGoogle Scholar
Lanes, R. (2004). Long-term outcome of growth hormone therapy in children and adolescents. Treatments in Endocrinology, 3, 53–66.CrossRefGoogle ScholarPubMed
Licastro, F., Chiricolo, M., Moccheggiani, E., et al. (1994). Oral zinc supplementation in Down's syndrome subjects decreased infections and normalized some humoral and cellular immune parameters. Journal of Intellectual Disability Research, 38, 149–162.CrossRefGoogle ScholarPubMed
Marino, B., Assenza, G., Mileto, F., Digilio, M. (2004). Down syndrome and congenital heart disease. In Rondal, J. A., Rasore-Quartino, A., Soresi, S. (eds.), The Adult with Down Syndrome. A New Challenge for Society, pp. 39–50. London: Whurr.Google Scholar
Marino, B. & DeZorzi, A. (1993). Congenital heart disease in trisomy 21 mosaicism. Journal of Pediatrics, 122, 500–501.CrossRefGoogle ScholarPubMed
Massey, G.V. (2005). Transient leukaemia in children with Down syndrome. Blood Cancer, 44, 29–32.CrossRefGoogle ScholarPubMed
Mazza, M., Capuano, A., Bria, P., Mazza, S. (2006). Gingko biloba and donepezil: a comparison in the treatment of Alzheimer's dementia in a randomized placebo-controlled double-blind study. European Journal of Neurology, 13, 981–985.CrossRefGoogle Scholar
McCarron, M., Gill, M., McCallion, P., Begley, C. (2005). Health co-morbidities in ageing persons with Down syndrome and Alzheimer's dementia. Journal of Intellectual Disability Research, 49, 560–566.CrossRefGoogle ScholarPubMed
Menzes, A. H. & Ryken, T. C. (1992). Craniovertebral anomalies in Down's syndrome. Pediatric Neurosurgery, 18, 24–33.CrossRefGoogle Scholar
Mitchell, V., Howard, R., Facer, E. (1995). Down's syndrome and anaesthesia. Pediatric Anesthesia, 5, 379–384.CrossRefGoogle ScholarPubMed
Monson, J.P. (2003). Long-term experience with GH replacement therapy: efficacy and safety. European Journal of Endocrinology, 148(Suppl 2), S9–S14.CrossRefGoogle ScholarPubMed
Nagle, D. G., Ferreira, D., Zhou, Y. D. (2006). Epigallocatechin-3-gallate (EGCG): chemical and biomedical perspectives. Phytochemistry, 67, 1849–1855.CrossRefGoogle ScholarPubMed
Pallotti, S., Giuliano, S., Giambi, C. (2002). Growth disorders in Down's syndrome: growth hormone treatment. Minerva Endocrinologica, 27, 59–64.Google ScholarPubMed
Pueschel, S. M., Louis, S., McKnight, P. (1991). Seizure disorders in Down syndrome. Archives of Neurology, 48, 318–320.CrossRefGoogle ScholarPubMed
Pueschel, S. M. & Pueschel, J. K. (1992). Biochemical Concerns in Persons with Down's Syndrome. Baltimore: Brookes.Google Scholar
Pueschel, S. M. & Schola, F. H. (1987). Atlantoaxial instability in individuals with Down syndrome: epidemiologic, radiographic and clinical studies. Pediatrics, 80, 555–560.Google ScholarPubMed
Quartino, A. Rasore (2007). Medical therapies in the lifespan. In Rondal, J. A. & Quartino, A. Rasore (eds.), Therapies and Rehabilitation in Down Syndrome, pp. 43–62. Chichester: Wiley.Google Scholar
Ravindranath, Y. (2003). Down syndrome and acute myeloid leukaemia: the paradox of increased risk for leukaemia and heightened sensitivity to chemotherapy (Editorial). Journal of Clinical Oncology, 21, 3385–3387.CrossRefGoogle Scholar
Ravindranath, Y. (2005). Down syndrome and leukaemia: new insights into the epidemiology, pathogenesis and treatment. Pediatric Blood Cancer, 44, 1–7.CrossRefGoogle Scholar
Salman, M. S. (2002). Systematic review of the effect of therapeutic dietary supplements and drugs on cognitive function in subjects with Down syndrome. European Journal of Pediatric Neurology, 6, 213–219.CrossRefGoogle ScholarPubMed
Satgé, D. & Bénard, J. (2008). Carcinogenesis in Down syndrome: what can be learned from trisomy 21? Seminars in Cancer Biology, 18, 365–371.CrossRefGoogle ScholarPubMed
Satgé, D., Honoré, L., Sasco, A. J., et al. (2006). An ovarian dysgerminoma in Down syndrome. Hypothesis about the association. International Journal of Gynecologic Cancer, 16(Suppl 1), 375–379.CrossRefGoogle ScholarPubMed
Satgé, D., Sasco, A. J., Cure, H., Sommelet, D., Vekemans, M. J. (1997). An excess of testicular germ cell tumors in Down syndrome. Three cases and literature review. Cancer, 80, 929–935.3.0.CO;2-Y>CrossRefGoogle Scholar
Service, K. P. & Hahn, J. A. (2003). Issues in aging. The role of the nurse in the care of older people with intellectual and developmental disabilities. Nursing Clinics of North America, 38, 291–312.CrossRefGoogle ScholarPubMed
Spiridigliozzi, G. A., Heller, J. H., Crissman, B. G., et al. (2007). Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome. American Journal of Medical Genetics. Part A, Seminars in Medical Genetics, 143A, 1408–1413.CrossRefGoogle ScholarPubMed
Taub, J. V. & Ge, Y. (2005). Down syndrome, drug metabolism and chromosome 21. Pediatric Blood Cancer, 44, 33–39.CrossRefGoogle ScholarPubMed
Turkel, H. (1975). Medical amelioration of Down's syndrome incorporating the orthomolecular approach. Journal of Orthomolecular Psychiatry, 4, 102–115.Google Scholar
Zaveri, N. T. (2006). Green tea and its polyphenolic catechins: medicinal uses in cancer and noncancer applications. Life Science, 78, 2073–2080.CrossRefGoogle ScholarPubMed
Zipursky, A. (1996). The treatment of children with acute megakaryoblastic leukaemia who have Down syndrome. Journal of Pediatric Haematology and Oncology, 18, 59–62.Google Scholar
Zipursky, A. (2003). Transient leukaemia – a benign form of leukaemia in newborn infants with trisomy 21. British Journal of Haematology, 120, 930–938.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×