Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life
Yıl: 2018 Cilt: 10 Sayı: 3 Sayfa Aralığı: 264 - 273 Metin Dili: İngilizce DOI: 10.4274/jcrpe.0029 İndeks Tarihi: 23-09-2019
Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life
Öz: Objective: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aidearly recognition.Methods: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birthquestionnaire.Results: Ninety patients (54 male-36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy(n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight <2500 g (24%), polyhydramnios (23%),breech presentation (23%) and need for nasogastric feeding (83%). Reduced fetal movements (FM) were reported in 82.5% patientscompared with 4% healthy siblings. Of 35 children born since 1999, 23 were diagnosed clinically within 28 days while diagnosis in 12was >28 days: 1-12 months in seven; and 3.75-10.5 years in five. Typical PWS features in these 12 infants included hypotonia (100%),feeding difficulties (75%), cryptorchidism (83% males) and reduced FM (66%). Causes other than PWS including neuromuscular diseasewere considered in nine patients.Conclusion: Neonatal hypotonia, reduced FM, feeding difficulties and cryptorchidism should immediately suggest PWS, yet late diagnosiscontinues in some cases. Awareness of the typical features of PWS in newborn units is required to allow prompt detection even in thepresence of confounding factors such as prematurity.
Anahtar Kelime: Konular:
Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
- Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med 2012;14:10-26. Epub 2011 Sep 26
- Donaldson MD, Chu CE, Cooke A, Wilson A, Greene SA, Stephenson JB. The Prader-Willi syndrome. Arch Dis Child 1994;70:58-63.
- Donaldson MDC. The natural history of Prader-Willi syndrome. KIGS Biannual Report 2002;1:11-21.
- Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993;91:398-402.
- Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M; speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 2008;93:4183-4197. Epub 2008 Aug 12
- Irizarry KA, Miller M, Freemark, Haqq AM. Prader Willi syndrome: Genetics, Metabolomics, hormonal function, and new approaches to therapy. Adv Pediatr 2016;63:47-77.
- Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest 2015;38:1249-1263. Epub 2015 Jun 11
- Festen DA, Wevers M, Lindgren AC, Böhm B, Otten BJ, Wit JM, Duivenvoorden HJ, Hokken-Koelega AC. Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome. Clin Endocrinol (Oxf) 2008;68:919-925. Epub 2007 Nov 19
- Gross N, Rabinowitz R, Gross-Tsur V, Hirsch HJ, Eldar-Geva T. PraderWilli syndrome can be diagnosed prenatally. Am J Med Genet A 2014;167:80-85. Epub 2014 Oct 22
- Miller SP, Riley P, Shevell MI. The neonatal presentation of Prader-Willi syndrome revisited. J Pediatr 1999;134:226-228.
- Õiglane-Shlik E, Žordania R, Varendi H, Antson A, Mägi ML, Tasa G, Bartsch O, Talvik T, Ounap K. The neonatal phenotype of Prader-Willi syndrome. Am J Med Genet A 2006;140: 1241-1244.
- Bigi N, Faure JM, Coubes C, Puechberty J, Lefort G, Sarda P, Blanchet P. Prader-Willi syndrome: is there a recognizable fetal phenotype? Prenat Diagn 2008;28:796-799.
- Haugen G, Rønnestad A, Kroken M. Variations in fetal phenotype in Prader-Willi syndrome. Prenat Diagn 2009;29:294.
- Butler MG. Benefits and limitations of prenatal screening for PraderWilli syndrome. Prenat Diagn 2016;37:81-94. Epub 2016 Oct 12
- Parano E, Pavone L, Falsperla R, Trifiletti R, Wang C. Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy Ann Neurol 1996;40:247-251.
- Butler MG, Sturich J, Myers SE, Gold JA, Kimonis V, Driscoll DJ. Is gestation in Prader-Willi syndrome affected by the genetic subtype? J Assist Reprod Genet 2009;26:461-466. Epub 2009 Sep 17
- Dudley O, Muscatelli F. Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder. Early Hum Dev 2007;83:471-478. Epub 2006 Oct 18
- Whittington JE, Butler JV, Holland AJ. Pre-, peri- and postnatal complications in Prader-Willi syndrome in a UK sample. Early Hum Dev 2008;84:331-336. Epub 2007 Oct 4
- Information Services Division (ISD) Scotland website: www.isdscotland. org/Health-Topics/Maternity-and-Births/Publications/2015-11-24/2015- 11-24-Births-Report
- Miller NL, Wevrick R, Mellon PL. Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development. Hum Mol Genet 2009;18:248-260. Epub 2008 Oct 17
- Montgomery Sardar C, Kinmond S, Siddique J, Cooper A, McGowan S, Paterson W, Donnelly S, Gault EJ, Donaldson M. Short Stature Screening by Accurate Length Measurement in Infants with a Birth Weight <9th Centile. Horm Res Paediatr 2015;83:400-407. [Epub ahead of print
- Lionti T, Reid SM, White SM, Rowell MM. A population-based profile of 160 Australians with Prader-Willi syndrome: Trends in diagnosis, birth prevalence and birth characteristics. Am J Med Genet A 2015;167:371- 378. Epub 2014 Nov 25
- Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold JA, Kimonis V, Dykens E, Butler MG, Shuster JJ, Driscoll DJ. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A 2011;155:1040-1049. Epub 2011 Apr 4
- Gunay-Aygun M, Schwartz S, Heeger S, O’Riordan MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001;108:92.
- Bacheré N, Diene G, Delagnes V, Molinas C, Moulin P, Tauber M. Early diagnosis and multidisciplinary care reduce the hospitalisation time and duration of tube feeding and prevent early obesity in PWS infants. Horm Res 2008;69:45-52. Epub 2007 Dec 4
- Nah SA, Yeo CS, How GY, Allen JC Jr, Lakshmi NK, Yap TL, Jacobsen AS, Low Y, Ong CC. Undescended testis: 513 patients’ characteristics, age at orchidopexy and patterns of referral. Arch Dis Child 2014;99:401- 406. Epub 2013 Nov 13
- Cho SY, Ki CS, Sohn YB, Maeng SH, Jung YG, Kim SJ, Jin DK. The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. J Hum Genet 2013;58:150-154. Epub 2013 Jan 10
- Stephenson JB. Neonatal Presentation of Prader-Willi Syndrome. Am J Dis Child 1992;146:151-152.
- Chu CE, Cooke A, Stephenson JB, Tolmie JL, Clarke B, Parry-Jones WL, Connor JM, Donaldson MD. Diagnosis in Prader-Willi syndrome. Arch Dis Child 1994;71:441-442.
| APA | ÇİZMECİOĞLU F, JONES J, PATERSON W, KHERRA S, KOURİME M, MCGOWAN R, SHAİKH M, Donaldson M (2018). Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life. , 264 - 273. 10.4274/jcrpe.0029 |
| Chicago | ÇİZMECİOĞLU FİLİZ MİNE,JONES Jeremy Huw,PATERSON Wendy Forsyth,KHERRA Sakina,KOURİME Mariam,MCGOWAN Ruth,SHAİKH M. Guftar,Donaldson Malcolm Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life. (2018): 264 - 273. 10.4274/jcrpe.0029 |
| MLA | ÇİZMECİOĞLU FİLİZ MİNE,JONES Jeremy Huw,PATERSON Wendy Forsyth,KHERRA Sakina,KOURİME Mariam,MCGOWAN Ruth,SHAİKH M. Guftar,Donaldson Malcolm Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life. , 2018, ss.264 - 273. 10.4274/jcrpe.0029 |
| AMA | ÇİZMECİOĞLU F,JONES J,PATERSON W,KHERRA S,KOURİME M,MCGOWAN R,SHAİKH M,Donaldson M Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life. . 2018; 264 - 273. 10.4274/jcrpe.0029 |
| Vancouver | ÇİZMECİOĞLU F,JONES J,PATERSON W,KHERRA S,KOURİME M,MCGOWAN R,SHAİKH M,Donaldson M Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life. . 2018; 264 - 273. 10.4274/jcrpe.0029 |
| IEEE | ÇİZMECİOĞLU F,JONES J,PATERSON W,KHERRA S,KOURİME M,MCGOWAN R,SHAİKH M,Donaldson M "Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life." , ss.264 - 273, 2018. 10.4274/jcrpe.0029 |
| ISNAD | ÇİZMECİOĞLU, FİLİZ MİNE vd. "Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life". (2018), 264-273. https://doi.org/10.4274/jcrpe.0029 |
| APA | ÇİZMECİOĞLU F, JONES J, PATERSON W, KHERRA S, KOURİME M, MCGOWAN R, SHAİKH M, Donaldson M (2018). Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life. Journal of Clinical Research in Pediatric Endocrinology, 10(3), 264 - 273. 10.4274/jcrpe.0029 |
| Chicago | ÇİZMECİOĞLU FİLİZ MİNE,JONES Jeremy Huw,PATERSON Wendy Forsyth,KHERRA Sakina,KOURİME Mariam,MCGOWAN Ruth,SHAİKH M. Guftar,Donaldson Malcolm Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life. Journal of Clinical Research in Pediatric Endocrinology 10, no.3 (2018): 264 - 273. 10.4274/jcrpe.0029 |
| MLA | ÇİZMECİOĞLU FİLİZ MİNE,JONES Jeremy Huw,PATERSON Wendy Forsyth,KHERRA Sakina,KOURİME Mariam,MCGOWAN Ruth,SHAİKH M. Guftar,Donaldson Malcolm Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life. Journal of Clinical Research in Pediatric Endocrinology, vol.10, no.3, 2018, ss.264 - 273. 10.4274/jcrpe.0029 |
| AMA | ÇİZMECİOĞLU F,JONES J,PATERSON W,KHERRA S,KOURİME M,MCGOWAN R,SHAİKH M,Donaldson M Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life. Journal of Clinical Research in Pediatric Endocrinology. 2018; 10(3): 264 - 273. 10.4274/jcrpe.0029 |
| Vancouver | ÇİZMECİOĞLU F,JONES J,PATERSON W,KHERRA S,KOURİME M,MCGOWAN R,SHAİKH M,Donaldson M Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life. Journal of Clinical Research in Pediatric Endocrinology. 2018; 10(3): 264 - 273. 10.4274/jcrpe.0029 |
| IEEE | ÇİZMECİOĞLU F,JONES J,PATERSON W,KHERRA S,KOURİME M,MCGOWAN R,SHAİKH M,Donaldson M "Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life." Journal of Clinical Research in Pediatric Endocrinology, 10, ss.264 - 273, 2018. 10.4274/jcrpe.0029 |
| ISNAD | ÇİZMECİOĞLU, FİLİZ MİNE vd. "Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life". Journal of Clinical Research in Pediatric Endocrinology 10/3 (2018), 264-273. https://doi.org/10.4274/jcrpe.0029 |
