Early Detection and Management of Prader-Willi Syndrome in Egyptian PatientsFunding None.
02 April 2019
13 June 2019
04 August 2019 (online)
Prader-Willi syndrome (PWS) is a distinct neurodevelopmental disorder associated with the deletion within the chromosomal 15q11-q13 region or uniparental disomy of chromosome 15. The etiologic heterogeneity of PWS makes it very difficult to establish uniform diagnostic methods which would result in the detection of most affected individuals. The objective was to report the clinical criteria and oro-dental features in PWS, to report the effect of diet and laser acupuncture on PWS and highlighted an easy effective method for early diagnosis of individuals with PWS. The study included seventeen cytogenetically proven individuals with Prader-Willi syndrome. These patients were subjected to meticulous history taking, clinical examination including oro-dental examination, bone densitometry and neuropsychiatric evaluation. They received laser acupuncture sessions in addition to nutrition intervention. All cases had characteristic facies, hypotonia and various psychosocial difficulties. Other criteria of PWS were present in different percentages. Karyotyping revealed deletion 15q11-q13 in 6 patients, and fluorescence in situ hybridization (FISH) revealed a microdeletion in 15q11–q13 in the other 11 patients. To our knowledge, partial ankyloglossia, median grooved tongue and hypodontia have not previously been reported in PWS patients. Laser acupuncture sessions and diet were effective in weight decline for PWS patients. Our study emphasizes the importance of early detection of PWS, laser sessions, diet restriction and oro-dental examination in the follow up of patients with Prader Willi syndrome.
Keywordsearly PWS detection - management - oro-dental findings - PWS diagnostic strategy - weight loss
We report the clinical, oro-dental, cytogenetic and bone density findings of 17 PWS Egyptian patients. Some oro-dental features are documented for the first time. We also delineate a strategy for detection of PWS among infants.
This research was reviewed and approved by the Research Ethics Committee at the National Research Centre according to “World Medical Association Declaration of Helsinki” in 1995 (as revised in Seoul 2008) and written consents were obtained.
H.T.E.: concept and design of the study, N.H.: acquisition of data, I.M.: analysis and interpretation of data, A.E.A.: acquisition of data, M.I.M.: concept and design of the study, A.M.S.T.: drafting the article and revising it critically and final approval of the version.
- 1 OMIM. (online Mendelian Inheritance in Man). 2018 McKusick-Nathans Institute for Genetic Medicine, John Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/ . Accessed March 20, 2018.
- 2 Bittel DC, Butler MG. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med 2005; 7 (14) 1-20
- 3 Griggs JL, Sinnayah P, Mathai ML. Prader-Willi syndrome: from genetics to behaviour, with special focus on appetite treatments. Neurosci Biobehav Rev 2015; 59: 155-172
- 4 Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest 2015; 38 (12) 1249-1263
- 5 Tauber M, Thuilleaux D, Bieth É. Prader-Willi syndrome in 2015 [article in French]. Med Sci (Paris) 2015; 31 (10) 853-860
- 6 Young W, Khan F, Brandt R, Savage N, Razek AA, Huang Q. Syndromes with salivary dysfunction predispose to tooth wear: case reports of congenital dysfunction of major salivary glands, Prader-Willi, congenital rubella, and Sjögren's syndromes. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2001; 92 (01) 38-48
- 7 Bailleul-Forestier I, Verhaeghe V, Fryns JP, Vinckier F, Declerck D, Vogels A. The oro-dental phenotype in Prader-Willi syndrome: a survey of 15 patients. Int J Paediatr Dent 2008; 18 (01) 40-47
- 8 Rubin DA, Nowak J, McLaren E, Patiño M, Castner DM, Dumont-Driscoll MC. Nutritional intakes in children with Prader-Willi syndrome and non-congenital obesity. Food Nutr Res 2015; 59: 29427
- 9 Brambilla P, Crinò A, Bedogni G. , et al; Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED). Metabolic syndrome in children with Prader-Willi syndrome: the effect of obesity. Nutr Metab Cardiovasc Dis 2011; 21 (04) 269-276
- 10 Cabýoglu MT, Ergene N, Tan U. The treatment of obesity by acupuncture. Int J Neurosci 2006; 116 (02) 165-175
- 11 Namazi N, Khodamoradi K, Larijani B, Ayati MH. Is laser acupuncture an effective complementary therapy for obesity management? A systematic review of clinical trials. Acupunct Med 2017; 35 (06) 452-459
- 12 Pinkel D, Gray JW, Trask B, van den Engh G, Fuscoe J, van Dekken H. Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes. Cold Spring Harb Symp Quant Biol 1986; 51 (Pt 1): 151-157
- 13 Ismaiel E, Kamel M. Wechsler Inteligence Scale for Children Revised. Arabic version. 1993. Cairo, Egypt: El-Nahda El Massriya Publisher;
- 14 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 (05) E92
- 15 Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med 2012; 14 (01) 10-26
- 16 Rocha CF, Paiva CLA. Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities. Genet Mol Res 2014; 13 (01) 2290-2298
- 17 Tsuyusaki Y, Yoshihashi H, Furuya N. , et al. 1p36 deletion syndrome associated with Prader-Willi-like phenotype. Pediatr Int 2010; 52 (04) 547-550
- 18 D'Angelo CS, Kohl I, Varela MC. , et al. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants. Am J Med Genet A 2013; 161A (03) 479-486
- 19 Mashiach R, Rimon E, Achiron R. Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. Ultrasound Obstet Gynecol 2002; 20 (03) 312-313
- 20 Hennekam RCM, Krantz ID, Allanson JE. Syndromes affecting the central nervous system. In: Gorlin's Syndromes of the Head and Neck. 5th ed. NY: Oxford University Press; 2010
- 21 de Almeida PdelV, Grégio AM, Machado MA, de Lima AA, Azevedo LR. Saliva composition and functions: a comprehensive review. J Contemp Dent Pract 2008; 9 (03) 72-80
- 22 Rai R, Rai AR, Rai R, Bhat K, Muralimanju BV. Prevalence of bifid tongue and ankyloglossia in South Indian population with an emphasis on its embryogenesis. Int J Morphol 2012; 30 (04) 182-184
- 23 Ferrés-Amat E, Pastor-Vera T, Rodriguez-Alessi P, Ferrés-Amat E, Mareque-Bueno J, Ferrés-Padró E. The prevalence of ankyloglossia in 302 newborns with breastfeeding problems and sucking difficulties in Barcelona: a descriptive study. Eur J Paediatr Dent 2017; 18 (04) 319-325
- 24 Fountain MD, Oleson DS, Rech ME. , et al. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet Med 2019; DOI: 10.1038/s41436-019-0433-1.
- 25 Eldar-Geva T, Hirsch HJ, Benarroch F, Rubinstein O, Gross-Tsur V. Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction. Eur J Endocrinol 2010; 162 (02) 377-384
- 26 Copet P, Jauregi J, Laurier V. , et al. Cognitive profile in a large French cohort of adults with Prader-Willi syndrome: differences between genotypes. J Intellect Disabil Res 2010; 54 (03) 204-215
- 27 Dykens EM, Roof E. Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age. J Child Psychol Psychiatry 2008; 49 (09) 1001-1008
- 28 Salah EM, El-Bassyouni HT, Kholoussi S. , et al. Behavioral problems, biochemical and anthropometric characteristics of patients with Prader-Willi syndrome. Middle East Journal of Medical Genetics. 2015; 4: 63-69
- 29 Spritz RA, Bailin T, Nicholls RD. , et al. Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Med Genet 1997; 71 (01) 57-62
- 30 Butler MG, Bittel DC, Kibiryeva N, Cooley LD, Yu S. An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype. Am J Med Genet A 2010; 152A (02) 404-408
- 31 Yingjun X, Yi Z, Jianzhu W. , et al. Prader-Willi syndrome with a long-contiguous stretch of homozygosity not covering the critical region. J Child Neurol 2015; 30 (03) 371-377
- 32 Nakamura Y, Murakami N, Iida T, Asano S, Ozeki S, Nagai T. Growth hormone treatment for osteoporosis in patients with scoliosis of Prader-Willi syndrome. J Orthop Sci 2014; 19 (06) 877-882
- 33 Bonfig W, Dokoupil K, Schmidt H. A special, strict, fat-reduced, and carbohydrate-modified diet leads to marked weight reduction even in overweight adolescents with Prader-Willi syndrome (PWS). ScientificWorldJournal 2009; 9: 934-939
- 34 Holm VA, Cassidy SB, Butler MG. , et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993; 91 (02) 398-402
- 35 Bacheré N, Diene G, Delagnes V, Molinas C, Moulin P, Tauber M. Early diagnosis and multidisciplinary care reduce the hospitalization time and duration of tube feeding and prevent early obesity in PWS infants. Horm Res 2008; 69 (01) 45-52
- 36 Wang P, Zhou W, Yuan W, Huang L, Zhao N, Chen X. Prader-Willi syndrome in neonates: twenty cases and review of the literature in Southern China. BMC Pediatr 2016; 16: 124
- 37 Bar C, Diene G, Molinas C, Bieth E, Casper C, Tauber M. Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome. Orphanet J Rare Dis 2017; 12 (01) 118