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Musculoskeletal manifestations of Prader-Willi syndrome

Discussion in 'Pediatrics' started by NewsBot, May 27, 2010.

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  1. NewsBot

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    The musculoskeletal manifestations of prader-willi syndrome.
    Shim JS, Lee SH, Seo SW, Koo KH, Jin DK.
    J Pediatr Orthop. 2010 Jun;30(4):390-5.
     
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    Prader–Willi syndrome

    Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes.[3] In newborns symptoms include weak muscles, poor feeding, and slow development.[3] Beginning in childhood the person becomes constantly hungry which often leads to obesity and type 2 diabetes.[3] There is also typically mild to moderate intellectual impairment and behavioral problems.[3] Often the forehead is narrow, hands and feet small, height short, skin light in color, and those affected are unable to have children.[3]

    About 70% of cases occur when part of the father's chromosome 15 is deleted.[3] In another 25% of cases the person has two copies of chromosome 15 from their mother and none from their father.[3] As parts of the chromosome from the mother are turned off they end up with no working copies of certain genes.[3] PWS is not generally inherited but instead the genetic changes happen during the formation of the egg, sperm, or in early development.[3] There are no known risk factors.[7] Those who have one child with PWS have less than a 1% chance of the next child being affected.[7] A similar mechanism occurs in Angelman syndrome except there is a defective chromosome 15 from the mother or two copies from the father.[8][9]

    Prader–Willi syndrome has no cure.[4] Treatment, however, may improve outcomes, especially if carried out early.[4] In newborns feeding difficulties may be supported with feeding tubes.[6] Strict food supervision is typically required starting around the age of three in combination with an exercise program.[6]Growth hormone therapy also improves outcomes.[6]Counseling and medications may help with some behavioral problems.[6]Group homes are often necessary in adulthood.[6]

    PWS affects between 1 in 10,000 and 30,000 people.[3] Males and females are affected equally.[7] The condition is named after Andrea Prader, Heinrich Willi, and Alexis Labhart who described it in detail in 1956.[1] An earlier description occurred in 1887 by John Langdon Down.[10][11]

    Video explanation
    1. ^ a b "Prader-Labhardt-Willi syndrome". Whonamedit?. Archived from the original on August 21, 2016. Retrieved August 20, 2016. 
    2. ^ Cortés M, F; Alliende R, MA; Barrios R, A; Curotto L, B; Santa María V, L; Barraza O, X; Troncoso A, L; Mellado S, C; Pardo V, R (January 2005). "[Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome].". Revista medica de Chile. 133 (1): 33–41. PMID 15768148. 
    3. ^ a b c d e f g h i j k l m n o "Prader-Willi syndrome". Genetics Home Reference. June 2014. Archived from the original on August 27, 2016. Retrieved August 19, 2016. 
    4. ^ a b c "Is there a cure for Prader-Willi syndrome (PWS)?". NICHD. January 14, 2014. Archived from the original on August 27, 2016. Retrieved August 20, 2016. 
    5. ^ Teitelbaum, Jonathan E. (2007). In a Page: Pediatrics. Lippincott Williams & Wilkins. p. 330. ISBN 9780781770453. Archived from the original on September 11, 2017. 
    6. ^ a b c d e f g "What are the treatments for Prader-Willi syndrome (PWS)?". NICHD. January 14, 2014. Archived from the original on August 10, 2016. Retrieved August 20, 2016. 
    7. ^ a b c "How many people are affected/at risk for Prader-Willi syndrome (PWS)?". NICHD. January 14, 2014. Archived from the original on August 27, 2016. Retrieved August 20, 2016. 
    8. ^ "Prader-Willi Syndrome (PWS): Other FAQs". NICHD. January 14, 2014. Archived from the original on July 27, 2016. Retrieved August 19, 2016. 
    9. ^ "Angelman syndrome". Genetic Home Reference. May 2015. Archived from the original on August 27, 2016. Retrieved August 20, 2016. 
    10. ^ Mia, Md Mohan (2016). Classical and Molecular Genetics. American Academic Press. p. 195. ISBN 978-1-63181-776-2. Archived from the original on September 11, 2017. 
    11. ^ Jorde, Lynn B.; Carey, John C.; Bamshad, Michael J. (2015). Medical Genetics (5 ed.). Elsevier Health Sciences. p. 120. ISBN 978-0-323-18837-1. Archived from the original on September 11, 2017. 
     
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    Press Release:
    A new way of looking at Prader-Willi Syndrome
     
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    Change in Prevalence of Congenital Defects in Children With Prader-Willi Syndrome
    M. Torrado, et al
    Pediatrics (published online)
     
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    NewsBot The Admin that posts the news.

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    Press Release:
    Symptoms of Prader-Willi syndrome associated with interference in circadian, metabolic genes
     
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    Press Release:
    Sequencing studies help pinpoint gene in Prader-Willi syndrome
     
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    Osteopathic Manipulative Treatment improves gait pattern and posture in adult patients with Prader-Willi syndrome
    Luca Vismara, Veronica Cimolin, Manuela Galli, Graziano Grugni, Andrea Ancillao, Paolo Capodaglio
    International Journal of Osteopathic Medicine; Article in Press
     
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    News Release:
    Weight Loss Surgery Offers New Hope to Children and Adolescents with Prader-Willi Syndrome
    Laparoscopic Sleeve Gastrectomy Is a Viable and Safe Solution for Obese Pediatric PWS Patients, Reports New Study in Surgery for Obesity and Related Diseases
     
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    PUBLIC RELEASE: 26-DEC-2016
    Experimental therapy for Prader-Willi syndrome shows promise in mice
    NIH-funded study describes strategy that activates silenced genes
     
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    Gait initiation and termination strategies in patients with Prader-Willi syndrome.
    Cimolin V et al
    J Neuroeng Rehabil. 2017 May 23;14(1):44. doi: 10.1186/s12984-017-0257-7.
     
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