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Down syndrome

Discussion in 'Pediatrics' started by NewsBot, Jan 17, 2008.

  1. NewsBot

    NewsBot The Admin that posts the news.

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    Down syndrome: orthopedic issues.
    Mik G, Gholve PA, Scher DM, Widmann RF, Green DW.
    Curr Opin Pediatr. 2008 Feb;20(1):30-36.
     
  2. Admin2

    Admin2 Administrator Staff Member

  3. NewsBot

    NewsBot The Admin that posts the news.

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    Joint stiffness and gait pattern evaluation in children with Down syndrome
    Manuela Gallia, Chiara Rigoldi, Reinald Brunner, Naznin Virji-Babul and Albertini Giorgio
    Gait & Posture, Article in Press
     
  4. NIKO

    NIKO Member


    The debate regarding surgical intervention in children with Down syndrome is interesting. It has been a source of debate for many years, with the major focus being on the systemic health of the child and the influence of general anaesthetic.
    The presentation of such pathology in children with Down syndrome is greater that in children without Down syndrome. There are no such pathologies unique to this population. The decision regarding intervention must follow similar clinical pathways as with children without Down syndrome. The major additional factors however, relate to an understanding of the overall health of the child. This not only applies to surgical intervention but all forms of intervention.

    Children with overall good systemic health will of course respond more favourably to treatment. This can extend from any health concerns particularly during infancy which may further decrease development. Of particular note is the impact of epilepsy on the development of children with Down sydrome.

    An interesting debate indeed and helped along its way by articles such as the above.

    NIKO
     
  5. NewsBot

    NewsBot The Admin that posts the news.

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    Foot-ground interaction during upright standing in children with Down syndrome.
    Pau M, Galli M, Crivellini M, Albertini G.
    Res Dev Disabil. 2012 Jun 18;33(6):1881-1887
     
  6. NewsBot

    NewsBot The Admin that posts the news.

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    Press Release:
    New Study Offers Insights Into Role of Muscle Weakness in Down Syndrome
     
  7. NewsBot

    NewsBot The Admin that posts the news.

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    Relationship between flat foot condition and gait pattern alterations in children with Down syndrome.
    Galli M, Cimolin V, Pau M, Costici P, Albertini G.
    J Intellect Disabil Res. 2013 Jan 4.

     
  8. NewsBot

    NewsBot The Admin that posts the news.

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    Press Release:
    UCI study reveals why Down syndrome boosts susceptibility to other conditions
    Breakdown in energy metabolism within brain cells noted as a cause
     
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    Down syndrome

    Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.[1] It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability.[2] The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely.[3]

    The parents of the affected individual are typically genetically normal.[4] The extra chromosome occurs by chance.[5] The possibility increases from less than 0.1% in 20-year-old mothers to 3% in those age 45.[6] There is no known behavioral activity or environmental factor that changes the possibility.[5] Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing.[7] Since the introduction of screening, pregnancies with the diagnosis are often terminated.[8][9] Regular screening for health problems common in Down syndrome is recommended throughout the person's life.[3]

    There is no cure for Down syndrome.[10] Education and proper care have been shown to improve quality of life.[11] Some children with Down syndrome are educated in typical school classes, while others require more specialized education.[12] Some individuals with Down syndrome graduate from high school and a few attend post-secondary education.[13] In adulthood, about 20% in the United States do paid work in some capacity[14] with many requiring a sheltered work environment.[12] Support in financial and legal matters is often needed.[15] Life expectancy is around 50 to 60 years in the developed world with proper health care.[3][15]

    Down syndrome is one of the most common chromosome abnormalities in humans.[3] It occurs in about one per 1000 babies born each year.[2] In 2013, Down syndrome was present in 8.5 million individuals and resulted in 36,000 deaths down from 43,000 deaths in 1990.[16][17] It is named after John Langdon Down, the British doctor who fully described the syndrome in 1866.[18] Some aspects of the condition were described earlier by Jean-Étienne Dominique Esquirol in 1838 and Édouard Séguin in 1844.[19] In 1957, the genetic cause of Down syndrome, an extra copy of chromosome 21, was discovered.[18]

    Video explanation
    1. ^ Patterson, D (Jul 2009). "Molecular genetic analysis of Down syndrome.". Human Genetics. 126 (1): 195–214. doi:10.1007/s00439-009-0696-8. PMID 19526251. 
    2. ^ a b Weijerman, ME; de Winter, JP (Dec 2010). "Clinical practice. The care of children with Down syndrome.". European journal of pediatrics. 169 (12): 1445–52. doi:10.1007/s00431-010-1253-0. PMC 2962780Freely accessible. PMID 20632187. 
    3. ^ a b c d Malt, EA; Dahl, RC; Haugsand, TM; Ulvestad, IH; Emilsen, NM; Hansen, B; Cardenas, YE; Skøld, RO; Thorsen, AT; Davidsen, EM (Feb 5, 2013). "Health and disease in adults with Down syndrome.". Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 133 (3): 290–4. doi:10.4045/tidsskr.12.0390. PMID 23381164. 
    4. ^ Hammer, edited by Stephen J. McPhee, Gary D. (2010). "Pathophysiology of Selected Genetic Diseases". Pathophysiology of disease : an introduction to clinical medicine (6th ed.). New York: McGraw-Hill Medical. pp. Chapter 2. ISBN 978-0-07-162167-0. 
    5. ^ a b "What causes Down syndrome?". 2014-01-17. Retrieved 6 January 2016. 
    6. ^ Cite error: The named reference Mor2002 was invoked but never defined (see the help page).
    7. ^ "How do health care providers diagnose Down syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2014-01-17. Retrieved 4 March 2016. 
    8. ^ Natoli, JL; Ackerman, DL; McDermott, S; Edwards, JG (Feb 2012). "Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995–2011).". Prenatal diagnosis. 32 (2): 142–53. doi:10.1002/pd.2910. PMID 22418958. 
    9. ^ Mansfield, C; Hopfer, S; Marteau, TM (Sep 1999). "Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality).". Prenatal diagnosis. 19 (9): 808–12. doi:10.1002/(sici)1097-0223(199909)19:9<808::aid-pd637>3.0.co;2-b. PMID 10521836. 
    10. ^ "Down Syndrome: Other FAQs". 2014-01-17. Retrieved 6 January 2016. 
    11. ^ Roizen, NJ; Patterson, D (April 2003). "Down's syndrome". Lancet (Review). 361 (9365): 1281–89. doi:10.1016/S0140-6736(03)12987-X. PMID 12699967. 
    12. ^ a b "Facts About Down Syndrome". National Association for Down Syndrome. Retrieved 20 March 2012. 
    13. ^ Steinbock, Bonnie (2011). Life before birth the moral and legal status of embryos and fetuses (2nd ed.). Oxford: Oxford University Press. p. 222. ISBN 978-0-19-971207-6. 
    14. ^ Szabo, Liz (May 9, 2013). "Life with Down syndrome is full of possibilities". USA Today. Retrieved 7 February 2014. 
    15. ^ a b Kliegma, Robert M. (2011). "Down Syndrome and Other Abnormalities of Chromosome Number". Nelson textbook of pediatrics. (19th ed.). Philadelphia: Saunders. pp. Chapter 76.2. ISBN 1-4377-0755-6. 
    16. ^ Global Burden of Disease Study 2013, Collaborators (22 August 2015). "Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013.". Lancet (London, England). 386 (9995): 743–800. doi:10.1016/s0140-6736(15)60692-4. PMC 4561509Freely accessible. PMID 26063472. 
    17. ^ GBD 2013 Mortality and Causes of Death, Collaborators (17 December 2014). "Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013.". Lancet. 385: 117–71. doi:10.1016/S0140-6736(14)61682-2. PMC 4340604Freely accessible. PMID 25530442. 
    18. ^ a b Hickey, F; Hickey, E; Summar, KL (2012). "Medical update for children with Down syndrome for the pediatrician and family practitioner.". Advances in Pediatrics. 59 (1): 137–57. doi:10.1016/j.yapd.2012.04.006. PMID 22789577. 
    19. ^ Evans-Martin, F. Fay (2009). Down syndrome. New York: Chelsea House. p. 12. ISBN 978-1-4381-1950-2. 
     
  10. NewsBot

    NewsBot The Admin that posts the news.

    Articles:
    1
    Relationship Between Obesity and Plantar Pressure Distribution in Youths with Down Syndrome.
    Pau M, Galli M, Crivellini M, Albertini G.
    Am J Phys Med Rehabil. 2013 Apr 29.
     
  11. NewsBot

    NewsBot The Admin that posts the news.

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    Effects of treadmill inclination on the gait of children with Down syndrome.
    Rodenbusch TL, Ribeiro TS, Simão CR, Britto HM, Tudella E, Lindquist AR.
    Res Dev Disabil. 2013 Apr 30;34(7):2185-2190.
     
  12. NewsBot

    NewsBot The Admin that posts the news.

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    Press Release:
    Down syndrome neurons grown from stem cells show signature problems
     
  13. Admin2

    Admin2 Administrator Staff Member

    Press Release
    Targeting an aspect of Down syndrome
     
  14. wdd

    wdd Well-Known Member

    Down's Syndrome; Down syndrome; Trisomy-21; Inverse Up syndrome.

    A rose by any other name?

    Personally I'm all for doing away with the apostrophe and the following letter or should I say, 'I all for doing away with the apostrophe....'

    Is it an America England divide? Down's Syndrome in England and Down syndrome in the USA?

    Looking at the list of medical syndromes there is a real mix of apostrophes and no apostrophes.

    Maybe it's time to do away with the apostrophe generally in medical syndromes?

    Over a year how many medical man hours would be saved by eliminating the 's from each syndrome?

    How many more patients could be treated world wide by the simple elimination of the 's?

    Could we reduce the use of the apostrophe generally without significantly increasing misunderstanding?

    Bill
     
  15. Rob Kidd

    Rob Kidd Well-Known Member

    What is your point Bill? I mean, what is your point in medicine?
     
    Last edited: Jun 6, 2013
  16. wdd

    wdd Well-Known Member

    I find the use of Down or Down's an interesting contemporary example of the evolution of language in progress. In this particular case the evolution of medical language.

    The American National Down syndrome society states, '.....the preferred usage in the United States is Down syndrome. This is because an "apostrophe s" connotes ownership or possession'.

    For possibly a couple of century, in the UK, if not in the English speaking world generally, the 's seems to have connoted ownership, not only in the sense of suffering from or in terms of ownership, as of property, but of the original description, categorization or discovery of a syndrome, disease or condition, eg Down's syndrome, Sever's disease, Kohler's disease, Morton's toe, etc, etc.

    This British convention for the use of 's in medicine seems to have been universally understood and, because of its long term usage, was implied in the use of the 's at least in medical language and was/is therefore contained within the definition of 's.

    Normally when conventions change podiatry meets with a fait accompli. This is how it is now get on with it.

    On this occasion the NDSS convention hasn't yet become universal and the jury is still hearing the evidence.

    On this occasion podiatry can, through Podiatry Arena, have a voice and might, on the butterfly flapping its wings in China principle, be influential in determining the future usage of some aspect of medical language.

    The NDSS and other organisations seem to be attempting to reduce the scope of the definition of 's.

    Does that seem like a good idea, bad idea or it makes no difference either way?


    I think that the above represents my medical point.

    Bill
     
  17. NewsBot

    NewsBot The Admin that posts the news.

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    Effects of whole body vibration training on balance in adolescents with and without Down syndrome.
    Villarroya MA, González-Agüero A, Moros T, Gómez-Trullén E, Casajús JA.
    Res Dev Disabil. 2013 Jul 18;34(10):3057-3065.
     
  18. NewsBot

    NewsBot The Admin that posts the news.

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    The effects of low arched feet on foot rotation during gait in children with Down syndrome
    M. Galli, V. Cimolin, C. Rigoldi, M. Pau, P. Costici, G. Albertini
    Journal of Intellectual Disability Research; Early View
     
  19. NewsBot

    NewsBot The Admin that posts the news.

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    Press Release:
    Elan Announces Dosing of First Patient in Phase 2a Trial of ELND005 (Scyllo-inositol) in Down Syndrome
     
  20. NewsBot

    NewsBot The Admin that posts the news.

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    The effect of the degree of disability on nutritional status and flat feet in adolescents with Down syndrome.
    Jankowicz-Szymanska A, Mikolajczyk E, Wojtanowski W.
    Res Dev Disabil. 2013 Sep 4;34(11):3686-3690.
     
  21. NewsBot

    NewsBot The Admin that posts the news.

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  22. NewsBot

    NewsBot The Admin that posts the news.

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    The effects of low arched feet on foot rotation during gait in children with Down syndrome.
    Galli M, Cimolin V, Rigoldi C, Pau M, Costici P, Albertini G.
    J Intellect Disabil Res. 2013 Aug 19. doi: 10.1111/jir.12087
     
  23. NewsBot

    NewsBot The Admin that posts the news.

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    Podiatric Profile of Individuals with Down Syndrome
    Nicholas Szwaba, MS, Sanghyuk Kim, BS, Kiana Karbasi, B.Eng., BS, and Rand Talas, BA
    NYCM
     
  24. NewsBot

    NewsBot The Admin that posts the news.

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    The bone tissue of children and adolescents with Down syndrome is sensitive to mechanical stress in certain skeletal locations: A 1-year physical training program study.
    Ferry B, Gavris M, Tifrea C, Serbanoiu S, Pop AC, Bembea M, Courteix D.
    Res Dev Disabil. 2014 May 27;35(9):2077-2084.
     
  25. NewsBot

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    Gait Characteristics of Adults with Down Syndrome Explain their Greater Metabolic Rate during Walking
    Stamatis Agiovlasitis, Jeffrey A. McCubbin, Joonkoo Yun, Jeffrey J. Widrick, Michael J. Pavol
    Gait & Posture; Articles in Press
    Abstract
     
  26. NewsBot

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    The association of foot structure and footwear fit with disability in children and adolescents with Down syndrome
    Polly QX Lim, Nora Shields, Nikolaos Nikolopoulos, Joanna T Barrett, Angela M Evans, Nicholas F Taylor and Shannon E Munteanu
    Journal of Foot and Ankle Research 2015, 8:4 doi:10.1186/s13047-015-0062-0
     
  27. NewsBot

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    Foot Health and Mobility in People With Intellectual Disabilities
    Ken Courtenay and Anita Murray
    Journal of Policy and Practice in Intellectual Disabilities; Early View
     
  28. NewsBot

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    Walking Dynamics in Preadolescents With and Without Down Syndrome
    Jianhua Wu, Matthew Beerse, Toyin Ajisafe and Huaqing Liang
    Physical Therapy May 2015 vol. 95 no. 5 740-749
     
  29. NewsBot

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    Gait analysis of Down Syndrome pediatric patients by using a Sheet Type Gait Analyzer: A pilot study.
    Naito M, Aoki S, Kamide A, Miyamura K, Honda M, Nagai A, Mezawa H, Hashimoto K
    Pediatr Int. 2015 May 21. doi: 10.1111/ped.12691
     
  30. NewsBot

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    Use of the Gait Profile Score for the Quantification of Gait Pattern in Down Syndrome
    Manuela Galli, Veronica Cimolin, Chiara Rigoldi, Ana Kleiner, Claudia Condoluci, Giorgio Albertini
    Journal of Developmental and Physical Disabilities; May 2015
     
  31. NewsBot

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    Comparative study of plantar footprints in youth with Down syndrome
    Estudio comparativo de las huellas plantares en j?venes con s?ndrome de Down
    L. Guti?rrez-Vilah?a, , , N. Mass?-Ortigosaa, F. Rey-Abellaa, L. Costa-Tutusausa, M. Guerra-Balicb
    International Medical Review on Down Syndrome; 9 October 2015
     
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  33. NewsBot

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    Reliability and Validity of the Footprint Assessment Method Using Photoshop CS5 Software in Young People with Down Syndrome
    Journal of the American Podiatric Medical Association: May 2016, Vol. 106, No. 3, pp. 207-213.
     
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    Foot–Ground Interaction during Standing in Individuals with Down Syndrome: a Longitudinal Retrospective Study
    Manuela Galli et al
    Journal of Developmental and Physical Disabilities; pp 1–13
    .
     
  36. NewsBot

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    A podoscopic and descriptive study of foot deformities in patients with Down syndrome
    E. Mansour et al
    Orthopaedics & Traumatology: Surgery & Research; 25 November 2016
     
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