A review on prader – willi syndrome: understanding and managing a complex genetic disorder
Abstract
Prader-Labhart-Willi is another name for PWS, are genetic condition. It affects the brain as well as several body organs. It is caused by the loss of specific genes onchromosome 15 due to paternal deletion, maternal uni-parental disomy/imprinting defect that causes the hypothalamus to disintegrate, and it causes endocrine abnormalities, growth hormone deficiency, hypogonadism, and insufficiency of the central adrenal gland. About 1 in 30,000 persons worldwide, including men and women, suffer from PWS, which is characterized by poor feeding, hypotonia in infancy and obesity, intellectual disability, and low sex hormones in childhood. Anearlydiagnosis of PWS is detected (DNAmethylationtest) as early as possible for better results, which can enhance quality medical care.
Keywords:
Prader-willisyndrome, chromosome15, uniparentaldisomy, endocrine abnormalities, hypogonadism, hypotonia, obesity
References
1. SUZANNE B CASSIDY , DANIEL J DRICOLL . Prader willi syndrome overview 2008 received , DOI 2009 jan . PMC ID : PMC 2985966 PMID ; 18781185 Citation on PubMed (https://pmc.ncbi.nlm.nih.gov/articles/PMC2985966/)
2. STEPHANIE WATSON , PWS overview , NORD National organization for rare disorders . PWS symptoms, causes , diagnosis , treatment and prevention on may 23,2022 updated Citation on ( https://www.everydayhealth.com/prader-willi-syndrome/guide/)
3. SUZANNE B. CASSIDY, STUART SCHWARTZ, JENNIFER L. MILLER, DANIEL J. DRISCOLL.Prader-willi syndrome . Genetics in medicine volume 14,issue,P10-26, january 2012 Citation on (https://www.gimjournal.org/article/S1098-3600%2821%2903284- 6/fulltext)
4. DANIEL J.WATTENDORF, MAJ,MC,USAF,and MAXIMILIAN MUENKE, Prader-willi syndrome, National human genome research institute vol 72,september 1, 2005 Citation on (https://www.aafp.org/pubs/afp/issues/2005/0901/p827.html)
5. GRECHI ELENA,CAMMARATA BRUNA,MARIANI BENEDETTA,DICANDIA STEFANIA,CHIUMELLO GIUSEPPE. Prader Willi Syndrome: Clinical aspects. Journal of obesity/volume 2012,Issue 1/473941 Citation on (https://onlinelibrary.wiley.com/doi/10.1155/2012/473941)
6. SB Cassidy, Prader - Willi Syndrome. Journal of medical genetics - volume 34,Issue 11 Citation on(https://jmg.bmj.com/content/34/11/917)
7. Ann SCHEIMANN , Prader Willi Syndrome.Medscape,updated;July 02,2024 Citation on (https://emedicine.medscape.com/article/947954-overview?form=fpf)
8. National library of medicine, Prader Willi Syndrome,Medline plus.Genetics Citation on (https://medlineplus.gov/genetics/condition/prader-willi-syndrome/)
9. Mayoclinic, Prader Willi Syndrome, Diagnosis - Treatment Citation on (https://www.mayoclinic.org/diseases-conditions/prader-willi-syndrome/diagnosis- treatment/drc-20356002)
10. ADAMFELMAN, Prader Willi Syndrome,Medical news today, on September 24,2018 Citation on (https://www.medicalnewstoday.com/articles/182287)
11. Prader Willi Syndrome association UK Citation on (https://www.pwsa.co.uk/) Prader Willi Syndrome Overview,NHS Citation on (https://www.nhs.uk/conditions/prader- willi-syndrome/) Prader Willi Syndrome, Cleveland Clinic Citation on (https://my.clevelandclinic.org/health/diseases/21016-prader-willi-syndrome)
12. Foundation for Prader Willi Research.About Prader Willi Syndrome Citation on (https://www.fpwr.ca/about-prader-willi-syndrome)
13. FRIEDERIKE EHRHART,KELLY J.M.JANSSEN.SUSAN L.COORT,CHRIS T.EVELO and LEOPOLD M.G.CURFS.The world journal of biological psychiatry 2019,vol.20,No.9,070-082 Accessed at https : //do(org/10.1080/15022975,2018.1439594)
14. MERLIN G.BUTLER,JENNIFER L.MILLER and JANICE L.FORSTER. Prader willi
15. Syndrome-Clinical genetics,Diagnosis and Treatment approaches;an update.Bentham Science publishers vol.15,issue 4,2019,Page (207-244) Citation on (https://www.eurekaselect.com/article/99672)
16. SHAWN E.Mc CANDLESS;The committee on genetics,health supervision for children with Prader willi Syndrome,from the american academy of pediatrics(2011)127(1):195-204 citation on ;( https://doi.org/10.1542/peds.2010-2820)
17. SAMANTHA N HARTIN,WAHEEDA A HOSSAIN,NICOLETTE WEISENSEL,MERLIN
18. G BUTLER.Three Siblings with Prader - willi Syndrome caused by imprinting center microdeletions &review,Pubmed central (PMC) Amj Med genet A.2018,Feb13;176(4):886- 895 Citation (https://pmc.ncbi.nlm.nih.gov/articles/PMC6688622/)
19. M.A.ANGULO,M.G.BUTLER,M.E.CATALETTO, Prader Willi Syndrome : A review of clinical,genetic,&endocrine findings.J endocrinol Invest 11june(2015)vol38:1249-1263 Citation : Springer(https://link.springer.com/article/10.1007/s40618-015-0312-9/figures/2)
20. KUMAR,A.A.(july 28, 2014).Genetic Disorders.In R.a. Cotran,Robbins and Cotran. PATHOLOGIC BASIS OF DISEASE (pp.191-193)Elsevier.
2. STEPHANIE WATSON , PWS overview , NORD National organization for rare disorders . PWS symptoms, causes , diagnosis , treatment and prevention on may 23,2022 updated Citation on ( https://www.everydayhealth.com/prader-willi-syndrome/guide/)
3. SUZANNE B. CASSIDY, STUART SCHWARTZ, JENNIFER L. MILLER, DANIEL J. DRISCOLL.Prader-willi syndrome . Genetics in medicine volume 14,issue,P10-26, january 2012 Citation on (https://www.gimjournal.org/article/S1098-3600%2821%2903284- 6/fulltext)
4. DANIEL J.WATTENDORF, MAJ,MC,USAF,and MAXIMILIAN MUENKE, Prader-willi syndrome, National human genome research institute vol 72,september 1, 2005 Citation on (https://www.aafp.org/pubs/afp/issues/2005/0901/p827.html)
5. GRECHI ELENA,CAMMARATA BRUNA,MARIANI BENEDETTA,DICANDIA STEFANIA,CHIUMELLO GIUSEPPE. Prader Willi Syndrome: Clinical aspects. Journal of obesity/volume 2012,Issue 1/473941 Citation on (https://onlinelibrary.wiley.com/doi/10.1155/2012/473941)
6. SB Cassidy, Prader - Willi Syndrome. Journal of medical genetics - volume 34,Issue 11 Citation on(https://jmg.bmj.com/content/34/11/917)
7. Ann SCHEIMANN , Prader Willi Syndrome.Medscape,updated;July 02,2024 Citation on (https://emedicine.medscape.com/article/947954-overview?form=fpf)
8. National library of medicine, Prader Willi Syndrome,Medline plus.Genetics Citation on (https://medlineplus.gov/genetics/condition/prader-willi-syndrome/)
9. Mayoclinic, Prader Willi Syndrome, Diagnosis - Treatment Citation on (https://www.mayoclinic.org/diseases-conditions/prader-willi-syndrome/diagnosis- treatment/drc-20356002)
10. ADAMFELMAN, Prader Willi Syndrome,Medical news today, on September 24,2018 Citation on (https://www.medicalnewstoday.com/articles/182287)
11. Prader Willi Syndrome association UK Citation on (https://www.pwsa.co.uk/) Prader Willi Syndrome Overview,NHS Citation on (https://www.nhs.uk/conditions/prader- willi-syndrome/) Prader Willi Syndrome, Cleveland Clinic Citation on (https://my.clevelandclinic.org/health/diseases/21016-prader-willi-syndrome)
12. Foundation for Prader Willi Research.About Prader Willi Syndrome Citation on (https://www.fpwr.ca/about-prader-willi-syndrome)
13. FRIEDERIKE EHRHART,KELLY J.M.JANSSEN.SUSAN L.COORT,CHRIS T.EVELO and LEOPOLD M.G.CURFS.The world journal of biological psychiatry 2019,vol.20,No.9,070-082 Accessed at https : //do(org/10.1080/15022975,2018.1439594)
14. MERLIN G.BUTLER,JENNIFER L.MILLER and JANICE L.FORSTER. Prader willi
15. Syndrome-Clinical genetics,Diagnosis and Treatment approaches;an update.Bentham Science publishers vol.15,issue 4,2019,Page (207-244) Citation on (https://www.eurekaselect.com/article/99672)
16. SHAWN E.Mc CANDLESS;The committee on genetics,health supervision for children with Prader willi Syndrome,from the american academy of pediatrics(2011)127(1):195-204 citation on ;( https://doi.org/10.1542/peds.2010-2820)
17. SAMANTHA N HARTIN,WAHEEDA A HOSSAIN,NICOLETTE WEISENSEL,MERLIN
18. G BUTLER.Three Siblings with Prader - willi Syndrome caused by imprinting center microdeletions &review,Pubmed central (PMC) Amj Med genet A.2018,Feb13;176(4):886- 895 Citation (https://pmc.ncbi.nlm.nih.gov/articles/PMC6688622/)
19. M.A.ANGULO,M.G.BUTLER,M.E.CATALETTO, Prader Willi Syndrome : A review of clinical,genetic,&endocrine findings.J endocrinol Invest 11june(2015)vol38:1249-1263 Citation : Springer(https://link.springer.com/article/10.1007/s40618-015-0312-9/figures/2)
20. KUMAR,A.A.(july 28, 2014).Genetic Disorders.In R.a. Cotran,Robbins and Cotran. PATHOLOGIC BASIS OF DISEASE (pp.191-193)Elsevier.
Published
31/12/2024
Statistics
38 Views | 28 Downloads
Citatons
How to Cite
Gompa, V. (2024). A review on prader – willi syndrome: understanding and managing a complex genetic disorder. Journal of Case Studies and Case Reports, 3(3), 15-19. https://doi.org/10.37022/jcscr.v3i3.647
Issue
Section
Review Articles
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Authors Retained the Copyright Policy
.