Down syndrome: orthopedic issues.
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Mik G, Gholve PA, Scher DM, Widmann RF, Green DW.
Curr Opin Pediatr. 2008 Feb;20(1):30-36.
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Related threads:
Foot problems in Down Syndrome -
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
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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 -
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
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Press Release:
New Study Offers Insights Into Role of Muscle Weakness in Down Syndrome
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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.
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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
Genetic disorderMedical conditionDown syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.[3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.[1][12] There are three types of Down syndrome, all with the same features: Trisomy 21, the most common type; Mosaic Down syndrome, and Translocation Down syndrome.[13][14]
The parents of the affected individual are usually genetically normal.[15] The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45.[4] The extra chromosome is provided at conception as the egg and sperm combine.[16] A very small percentage of 1-2% gets the additional chromosome in the embryo stage and it only impacts some of the cells in the body; this is known as Mosaic Down syndrome.[17][18] Usually, babies get 23 chromosomes from each parent for a total of 46, whereas in Down syndrome, a third 21st chromosome is attached.[18] It is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability.[2] Down syndrome can be identified during pregnancy by prenatal screening, followed by diagnostic testing, or after birth by direct observation and genetic testing.[6] Since the introduction of screening, Down syndrome pregnancies are often aborted (rates varying from 50 to 85% depending on maternal age, gestational age, and maternal race/ethnicity).[19][20][21]
There is no cure for Down syndrome.[22] Education and proper care have been shown to provide good quality of life.[7] Some children with Down syndrome are educated in typical school classes, while others require more specialized education.[8] Some individuals with Down syndrome graduate from high school, and a few attend post-secondary education.[23] In adulthood, about 20% in the United States do paid work in some capacity,[24] with many requiring a sheltered work environment.[8] Support in financial and legal matters is often needed.[10] Life expectancy is around 50 to 60 years in the developed world, with proper health care.[9][10] Regular screening for health issues common in Down syndrome is recommended throughout the person's life.[9]
Down syndrome is the most common chromosomal abnormality.[25] It occurs in about 1 in 1,000 babies born each year.[1] In the US this figure is given as one in 700 births.[13] In 2015, Down syndrome was present in 5.4 million individuals globally and resulted in 27,000 deaths, down from 43,000 deaths in 1990.[11][26][27] It is named after British physician John Langdon Down, who fully described the syndrome in 1866.[28] Some aspects of the condition were described earlier by French psychiatrist Jean-Étienne Dominique Esquirol in 1838 and French physician Édouard Séguin in 1844.[29] The genetic cause of Down syndrome was discovered in 1959.[28]
- ^ a b c d Weijerman ME, de Winter JP (December 2010). "Clinical practice. The care of children with Down syndrome". European Journal of Pediatrics. 169 (12): 1445–1452. doi:10.1007/s00431-010-1253-0. PMC 2962780. PMID 20632187.
- ^ a b "What causes Down syndrome?". National Institute of Child Health and Human Development. U.S. National Institutes of Health. 2014-01-17. Archived from the original on 5 January 2016. Retrieved 6 January 2016.
- ^ a b Patterson D (July 2009). "Molecular genetic analysis of Down syndrome". Human Genetics. 126 (1): 195–214. doi:10.1007/s00439-009-0696-8. PMID 19526251. S2CID 10403507.
- ^ a b Cite error: The named reference
Mor2002
was invoked but never defined (see the help page). - ^ "Down syndrome – Symptoms and causes". Mayo Clinic. Retrieved 17 March 2019.
- ^ a b "How do health care providers diagnose Down syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2014-01-17. Archived from the original on 7 March 2016. Retrieved 4 March 2016.
- ^ a b Roizen NJ, Patterson D (April 2003). "Down's syndrome". Lancet (Review). 361 (9365): 1281–1289. doi:10.1016/S0140-6736(03)12987-X. PMID 12699967. S2CID 33257578.
- ^ a b c "Facts About Down Syndrome". National Association for Down Syndrome. Archived from the original on 3 April 2012. Retrieved 20 March 2012.
- ^ a b c Malt EA, Dahl RC, Haugsand TM, Ulvestad IH, Emilsen NM, Hansen B, et al. (February 2013). "Health and disease in adults with Down syndrome". Tidsskrift for den Norske Laegeforening. 133 (3): 290–294. doi:10.4045/tidsskr.12.0390. PMID 23381164.
- ^ a b c Kliegma RM (2011). "Down Syndrome and Other Abnormalities of Chromosome Number". Nelson textbook of pediatrics (19th ed.). Philadelphia: Saunders. pp. Chapter 76.2. ISBN 978-1-4377-0755-7.
- ^ a b GBD 2015 Disease and Injury Incidence and Prevalence Collaborators (October 2016). "Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1545–1602. doi:10.1016/S0140-6736(16)31678-6. PMC 5055577. PMID 27733282.
- ^ "What are common symptoms of Down syndrome?". NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development. 31 January 2017. Retrieved 28 March 2023.
- ^ a b Cite error: The named reference
CDC
was invoked but never defined (see the help page). - ^ "About Down Syndrome | National Down Syndrome Society (NDSS)". ndss.org. Retrieved 2023-03-28.
- ^ Hammer GD (2010). "Pathophysiology of Selected Genetic Diseases". In McPhee SJ (ed.). Pathophysiology of disease: an introduction to clinical medicine (6th ed.). New York: McGraw-Hill Medical. pp. Chapter 2. ISBN 978-0-07-162167-0.
- ^ "Facts About Down Syndrome". National Association for Down Syndrome. Retrieved 2023-04-01.
- ^ "LSUHSC School of Medicine". www.medschool.lsuhsc.edu. Retrieved 2023-04-01.
- ^ a b "The Genetics of Down's Syndrome". www.intellectualdisability.info. Retrieved 2023-04-01.
- ^ Seror V, L'Haridon O, Bussières L, Malan V, Fries N, Vekemans M, et al. (March 2019). "Women's Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome". JAMA Network Open. 2 (3): e191062. doi:10.1001/jamanetworkopen.2019.1062. PMC 6450316. PMID 30924894.
- ^ Natoli JL, Ackerman DL, McDermott S, Edwards JG (February 2012). "Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995-2011)". Prenatal Diagnosis. 32 (2): 142–153. doi:10.1002/pd.2910. PMID 22418958.
- ^ Mansfield C, Hopfer S, Marteau TM (September 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). Wiley: 808–812. doi:10.1002/(sici)1097-0223(199909)19:9<808::aid-pd637>3.0.co;2-b. PMID 10521836. S2CID 29637272.
- ^ "Down Syndrome: Other FAQs". 2014-01-17. Archived from the original on 6 January 2016. Retrieved 6 January 2016.
- ^ Steinbock B (2011). "The Risk of Transmitting Disease or Disability". 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. Archived from the original on 2017-01-23.
- ^ Szabo L (May 9, 2013). "Life with Down syndrome is full of possibilities". USA Today. Archived from the original on 8 January 2014. Retrieved 7 February 2014.
- ^ Martínez-Espinosa RM, Molina Vila MD, Reig García-Galbis M (June 2020). "Evidences from Clinical Trials in Down Syndrome: Diet, Exercise and Body Composition". International Journal of Environmental Research and Public Health. 17 (12): 4294. doi:10.3390/ijerph17124294. PMC 7344556. PMID 32560141.
- ^ GBD 2015 Mortality and Causes of Death Collaborators (October 2016). "Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980-2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1459–1544. doi:10.1016/s0140-6736(16)31012-1. PMC 5388903. PMID 27733281.
- ^ GBD 2013 Mortality and Causes of Death Collaborators (January 2015). "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 (9963): 117–171. doi:10.1016/S0140-6736(14)61682-2. PMC 4340604. PMID 25530442.
- ^ 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). Elsevier BV: 137–157. doi:10.1016/j.yapd.2012.04.006. PMID 22789577.
- ^ Evans-Martin FF (2009). Down syndrome. New York: Chelsea House. p. 12. ISBN 978-1-4381-1950-2.
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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.
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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.
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Press Release:
Down syndrome neurons grown from stem cells show signature problems
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Press Release
Targeting an aspect of Down syndrome
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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 -
What is your point Bill? I mean, what is your point in medicine?
Last edited: Jun 6, 2013 -
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 -
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.
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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
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Press Release:
Elan Announces Dosing of First Patient in Phase 2a Trial of ELND005 (Scyllo-inositol) in Down Syndrome
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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.
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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
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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
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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.
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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
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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
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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
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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
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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
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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
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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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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
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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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Foot Structure in Boys with Down Syndrome
Ewa Puszczałowska-Lizis et al
source
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Foot Structure in Boys with Down Syndrome.
Puszczałowska-Lizis E et al
Biomed Res Int. 2017;2017:7047468. doi: 10.1155/2017/7047468
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Static postural control among school-aged youth with Down syndrome: A systematic review
Christophe Maïano et al
Gait and Posture; Article in Press
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The prevalence of the flat foot condition and insole prescription in people with Down's syndrome: a retrospective population-based study.
Kanai Y et al
Phys Ther Sci. 2018 Apr;30(4):520-524. doi: 10.1589/jpts.30.520
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