Prader-Willi Syndrome – A Rare Genetic Bullet!
Uterus and birth symptomologies:
Frequent abnormal fetal position
Occasional polyhydramnios (excessive amniotic fluid)
Often breech or caesarean births
Feeding difficulties (due to poor muscle tone affecting sucking reflex)
Difficulties establishing respiration
Delayed milestones/intellectual delay
Scoliosis (often not detected at birth)
Hyperphagia (over-eating) begins between the age of 2 and 8, and continues on throughout adulthood. Note change from feeding difficulties in infancy
Infertility (males and females)
Learning disabilities/borderline intellectual functioning (but some cases of average intelligence)
Prone to diabetes mellitus (Type I Diabetes)
Physical appearance symptomologies:
Small hands and feet with tapering of fingers
Soft skin, which is easily bruised
Excess fat, especially in the central portion of the body
Light skin and hair relative to other family members
Lack of complete sexual development
Neuro-cognitive symptomologies:
5%: IQ above 85 (high to low average intelligence)
27%: IQ 70 – 85 (borderline intellectual functioning)
39%: IQ 50 – 70 (mild intellectual disability)
27%: IQ 35 – 50 (moderate intellectual disability)
1%: IQ 20 – 35 (severe intellectual disability)
Prader–Willi syndrome is also frequently associated with an extreme and insatiable appetite, often resulting in morbid acidic obesity build-up in the fatty tissues. It is the most common genetic trigger that causes morbid obesity in children of which is also associated with congestion or consptipation of the small and large bowel due to the ingestion of animal flesh, dairy products and lots of bread. [8] Currently there is no consensus as to the cause for this particular symptom, although acidic lifestyles and diets can trigger genetic abnormalities in chromosome 15 and disrupt the normal functioning of the hypothalamus. [9] Given that the hypothalamus arcuate nucleus regulates many basic processes, including appetite, there may well be a link. In the hypothalamus of people with PWS, nerve cells that produce oxytocin, an acidic waste product or hormone from the function of the hypothalamus, is thought to contribute to satiety and has been found to be abnormal in PWS people.
There are several aspects of PWS that support the concept of reduced glandular function that affects growth, demonstated by reduced hormones in individuals with PWS. Specifically, individuals with PWS have short stature, are obese with abnormal body composition, have reduced fat free mass (FFM), have reduced lean body mass (LBM) and total energy expenditure, and have decreased bone density.
PWS is caused by the non-expression of the paternal copies of the SNRPN andnecdin genes along with clusters of snoRNAs: SNORD64, SNORD107, SNORD108 and two copies of SNORD109, 29 copies of SNORD116 (HBII-85) and 48 copies of SNORD115 (HBII-52). These are on chromosome 15 located in the region 15q11-13. [10] [11] [12]
The risk to the sibling of an affected child of having PWS depends upon the lifestyle and dietary trigger that caused the non-expression of the genetic mechanism. The risk to siblings is There are many acidic symptomologies expressed with the acidic condition of Prader-Willi Syndrome, a rare ‘genetic bullet’ disorder. The Prader–Willi syndrome or PWS is a rare genetic bullet that involves seven genes (or some subset thereof) on chromosome 15 (q 11–13) which are unexpressed (chromosome 15q partial deletion) on the paternal chromosome.
Traditionally, Prader–Willi syndrome was diagnosed by clinical presentation. Currently, the syndrome is diagnosed through genetic testing; testing is recommended for newborns with pronounced hypotonia. Early diagnosis of PWS allows for early intervention as well as the early increased amounts of alkaline green foods, green drinks, alkaline mineral salts, alkaline water, and polyunsaturated plant oils will increase healthy endocrine function and increased amounts of growth hormone. Daily recombinant growth hormone (GH) injections may also be indicated for children with PWS. A healthy active endocrine system, especially a health Hypothalmus will show increased GH, supporting linear growth and increased muscle mass, and may lessen food preoccupation and weight gain.
Prader–Willi syndrome according to current medical savants has no cure; however, several alkalizing treatments and alkalizing diet plans are in place to lessen the condition’s and reverse many of the acidic symptoms. During infancy, subjects should undergo alkalizing therapies, such as lymphatic massage and colon hydrotherapy to improve muscle tone, bowel elimination, improved cognitive function, prevention of diabetes, improved learning, and reduced over-eating.
Jump up ^ “Questions and Answers on Prader-Willi Syndrome”. Prader-Willi Syndrome Association . Retrieved February 2, 2012 .
^ Jump up to: a b Curfs LM, Fryns JP (1992). “Prader-Willi syndrome: a review with special attention to the cognitive and behavioral profile”. Birth Defects Orig. Artic. Ser. 28 (1): 99–104. PMID 1340242.
^ Jump up to: a b c Cassidy SB (1997). “Prader-Willi syndrome”. Journal of Medical Genetics 34 (11): 917–23. doi:10.1136/jmg.34.11.917. PMC 1051120. PMID 9391886.
nal . Retrieved December 4, 2012 .
Jump up ^ Cassidy SB, Devi A, Mukaida C (1994). “Aging in PWS: 232 patients over age 30 years”. Proc. Greenwood Genetic Centre 13 : 102–3.
Jump up ^ Hered RW, Rogers S, Zang YF, Biglan AW (1988). “Ophthalmologic features of Prader-Willi syndrome”. J Pediatr Ophthalmol Strabismus 25 (3): 145–50. PMID 3397859.
Jump up ^ Online ‘Mendelian Inheritance in Man’ (OMIM) Prader-Willi Syndrome; PWS -17627
Jump up ^ de los Santos T, Schweizer J, Rees CA, Francke U (November 2000). “Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain”. American Journal of Human Genetics 67 (5): 1067–82. doi:10.1086/303106. PMC 1288549.PMID 11007541.
Jump up ^ Cavaillé J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Hüttenhofer A (December 2000). “Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization”. Proc. Natl. Acad. Sci. U.S.A.. 97 (26): 14311–6. doi:10.1073/pnas.250426397. PMC 18915. PMID 11106375.
Jump up ^ http://medicalxpress.com/news/2014-05-major-breakthrough-prader-willi-syndrome-parental.html
Jump up ^ Runte M, Varon R, Horn D, Horsthemke B, Buiting K (2005). “Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome.”. Hum Genet 116 (3): 228–30. doi:10.1007/s00439-004-1219-2. PMID 15565282.
Jump up ^ Skryabin BV, Gubar LV, Seeger B, Pfeiffer J, Handel S, Robeck T, Karpova E, Rozhdestvensky TS, Brosius J (2007). “Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation”. PLoS Genet. 3 (12): e235.doi:10.1371/journal.pgen.0030235. PMC 2323313. PMID 18166085.
Jump up ^ Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL (2008). “Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.”. Nat Genet 40 (6): 719–21. doi:10.1038/ng.158.PMC 2705197. PMID 18500341.
Jump up ^ Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U (2008). “SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice”. In Akbarian, Schahram. PLoS ONE 3 (3): e1709. doi:10.1371/journal.pone.0001709.PMC 2248623. PMID 18320030.
Jump up ^ Ding F, Prints Y, Dhar MS, Johnson DK, Garnacho-Montero C, Nicholls RD, Francke U (2005). “Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models”. Mamm Genome 16 (6): 424–31. doi:10.1007/s00335-005-2460-2.PMID 16075369.
Jump up ^ de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O’Rahilly S, Froguel P, Farooqi IS, Blakemore AI (June 2009). “A Deletion of the HBII-85 Class of Small Nucleolar RNAs (snoRNAs) is Associated with Hyperphagia, Obesity and Hypogonadism”. Hum. Mol. Genet. 18 (17): 3257–65. doi:10.1093/hmg/ddp263. PMC 2722987. PMID 19498035.
^ Jump up to: a b Killeen, Anthony A. (2004). “Genetic Inheritance”. Principles of Molecular Pathology . Humana Press. p. 41. ISBN 978-1-58829-085-4.
Jump up ^ Tweed, Katherine (September 2009). “Shawn Cooper Struggles with Prader Willi Syndrome”. AOL Health . Retrieved September 2009 .
Jump up ^ Davies PS, Evans S, Broomhead S, Clough H, Day JM, Laidlaw A, Barnes ND (May 1998).”Effect of growth hormone on height, weight, and body composition in Prader-Willi syndrome”. Arch. Dis. Child. 78 (5): 474–6. doi:10.1136/adc.78.5.474. PMC 1717576.PMID 9659098.
Jump up ^ Carrel AL, Myers SE, Whitman BY, Allen DB (April 2002). “Benefits of long-term GH therapy in Prader-Willi syndrome: a 4-year study”. J. Clin. Endocrinol. Metab. 87 (4): 1581–5.doi:10.1210/jc.87.4.1581. PMID 11932286.
Jump up ^ Höybye C, Hilding A, Jacobsson H, Thorén M (May 2003). “Growth hormone treatment improves body composition in adults with Prader-Willi syndrome”. Clin. Endocrinol. (Oxf) 58 (5): 653–61. doi:10.1046/j.1365-2265.2003.01769.x. PMID 12699450.
Jump up ^ Mary Jones. “Case Study: Cataplexy and SOREMPs Without Excessive Daytime Sleepiness in Prader Willi Syndrome. Is This the Beginning of Narcolepsy in a Five Year Old?”. European Society of Sleep Technologists . Retrieved April 6, 2009 .
Jump up ^ “Dog Eat Dog”. http://www.csifiles.com . Retrieved June 12, 2009 .
Jump up ^ “Can’t Stop Eating”. 2006 . Retrieved June 12, 2009 .
Jump up ^ http://www.aoltv.com/tag/Extreme+Makeover:+Home+Edition/
Jump up ^ http://www.pwsausa.org/Anouncements/March2010-TV.htm
Jump up ^ Group urges more support for Prader-Willi sufferers – Taipei Times . Published December 24, 2011. Retrieved May 27, 2012.
Jump up ^ http://www.worldcat.org/title/hypothalamic-regulation-in-relation-to-maladaptive-obsessive-compulsive-affiliative-and-satiety-behaviors-in-prader-willi-syndrome/oclc/261564900
Jump up ^ “Life After Child Stardom – Not by the Numbers”. Abcnews.go.com. November 24, 2006 . Retrieved May 27, 2012 .
Jump up ^ Bialik, Mayim C. “Hypothalamic regulation in relation to maladaptive, obsessive-compulsive, affiliative, and satiety behaviors in Prader-Willi syndrome” (PhD Diss., UCLA, 2007).
Share on X (Opens in new window) X
Share on Pinterest (Opens in new window) Pinterest