PWS publications from 1 April to June 2018
Index
(Abstracts download here)
General PWS and families
Singh P, Mahmoud R, Gold JA, Miller JL, Roof E, Tamura R, Dykens E, Butler MG, Driscoll DJ, Kimonis V. Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. J Med Genet. 2018 May 18. pii: jmedgenet-2017-105118 [Epub ahead of print]
Paepegaey AC, Coupaye M, Jaziri A, Menesguen F, Dubern B, Polak M, Oppert JM, Tauber M, Pinto G, Poitou C. Impact of transitional care on endocrine and anthropometric parameters in Prader-Willi syndrome. Endocr Connect. 2018 Apr 17. pii: EC-18-0089. [Epub ahead of print]
Lee CL, Lin HY, Tsai LP, Chiu HC, Tu RY, Huang YH, Chien YH, Lee NC, Niu DM, Chao MC, Tsai FJ, Chou YY, Chuang CK, Lin SP. Functional independence of Taiwanese children with Prader-Willi syndrome. Am J Med Genet A. 2018 Apr 25. [Epub ahead of print]
Cortessis VK, Azadian M, Buxbaum J, Sanogo F, Song AY, Sriprasert I, Wei PC, Yu J, Chung K, Siegmund KD. Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology. J Assist Reprod Genet. 2018 Apr 25. [Epub ahead of print]
Gold JA, Mahmoud R, Cassidy SB, Kimonis V. Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. Am J Med Genet A. 2018 May;176(5):1161-1165
Genetics and brain imaging
Isobe K, Matsumoto H, Tamura Y, Hashimoto J, Matsubara K, Nonoyama S Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient. Brain Dev. 2018 Jun 27. pii: S0387-7604(18)30279-1. [Epub ahead of print]
Ramos-Molina B, Molina-Vega M, Fernández-García JC, Creemers JW. Hyperphagia and Obesity in Prader⁻Willi Syndrome: PCSK1 Deficiency and Beyond? Genes (Basel). 2018 9. pii: E288.
Oncul M, Dilsiz P, Ates Oz E, Ates T, Aklan I, Celik E, Sayar Atasoy N, Atasoy D. Impaired melanocortin pathway function in Prader-Willi Syndrome gene-Magel2 deficient mice. Hum Mol Genet. 2018 Jun 5. [Epub ahead of print]
Butler MG, Hartin SN, Hossain WA, Manzardo AM, Kimonis V2Dykens E, Gold JA, Kim SJ, Weisensel N, Tamura R, Miller JL, Driscoll DJ. Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. J Med Genet. 2018 May 5. pii: jmedgenet-2018-105301. [Epub ahead of print]
Coulson RL, Yasui DH, Dunaway KW, Laufer BI, Vogel Ciernia A1Zhu Y, Mordaunt CE, Totah TS, LaSalle JM. Snord116-dependent diurnal rhythm of DNA methylation in mouse cortex.
Nat Commun. 2018 Apr 24;9(1):1616.
Endocrine including GH
Obrynba KS, Hoffman RP, Repaske DR, Anglin K, Kamboj MK. No central adrenal insufficiency found in patients with Prader-Willi syndrome with an overnight metyrapone test.
J Pediatr Endocrinol Metab. 2018 Jun 30. pii: /j/jpem.ahead-of-print/jpem-2017-0487/jpem-2017-0487.xml. [Epub ahead of print]
Woods SG, Knehans A, Arnold S, Dionne C, Hoffman L, Turner P, Baldwin J The associations between diet and physical activity with body composition and walking a timed distance in adults with Prader-Willi syndrome. Food Nutr Res. 2018 Jun 18;62. eCollection 2018
JCI Insight. 2018 Jun 21;3(12). pii: 98333. [Epub ahead of print]
Alyousif Z, Miller JL, Sandoval MY, MacPherson CW, Nagulesapillai V, Dahl WJ. The effects of Bifidobacterium animalis ssp. lactis B94 on gastrointestinal wellness in adults with Prader-Willi syndrome: study protocol for a randomized controlled trial. Trials. 2018 Apr 27;19(1):256.
Oto Y, Matsubara K, Ayabe T, Shiraishi M, Murakami N, Ihara H, Matsubara T, Nagai T. Delayed peak response of cortisol to insulin tolerance test in patients with Prader-Willi syndrome.
Am J Med Genet A. 2018 Apr 25. [Epub ahead of print]
Joung HJ, Lim IS. Changes in body composition, blood lipid profile, and growth factor hormone in a patient with Prader-willi syndrome during 24 weeks of complex exercise: a single case study.
J Exerc Nutrition Biochem. 2018 Mar 30;22(1):35-40.
Paepegaey AC, Coupaye M, Jaziri A, Menesguen F, Dubern B, Polak M, Oppert JM, Tauber M, Pinto G, Poitou C Impact of transitional care on endocrine and anthropometric parameters in Prader-Willi syndrome. Endocr Connect. 2018 Apr 17. pii: EC-18-0089. [Epub ahead of print]
Sensory and physical
Coulson RL, LaSalle JM. Epigenetics of Circadian Rhythms in Imprinted Neurodevelopmental Disorders. Prog Mol Biol Transl Sci. 2018;157:67-92. Epub 2018 Apr 12.
Lam MY, Rubin DA, White E, Duran AT, Rose DJ. Test-retest reliability of the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition for youth with Prader-Willi syndrome. Ann Phys Rehabil Med. 2018 Jun 18. pii: S1877-0657(18)31398-8.. [Epub ahead of print]
Xiao KK, Tomur S, Beckerman R, Cassidy K, Lypka M. Orthognathic Correction in Prader-Willi Syndrome: Occlusion and Sleep Restored. Cleft Palate Craniofac J. 2018 Jan 1:1055665618775724.. [Epub ahead of print]
Saeves R, Strøm F, Sandvik L, Nordgarden H. Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome? Orphanet J Rare Dis. 2018 Apr 23;13(1):64.
Özdemir ME, Telatar Z, Eroğul O, Tunca Y. Classifying dysmorphic syndromes by using artificial neural network based hierarchical decision tree. Australas Phys Eng Sci Med. 2018 May 1.. [Epub ahead of print]
Behaviour
Cognition and mental health
Adhikari A, Copping NA, Onaga B, Pride MC, Coulson RL, Yang M, Yasui DH, LaSalle JM, Silverman JL. Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome.
Neurobiol Learn Mem. 2018 May 23. pii: S1074-7427(18)30119-9. [Epub ahead of print]
Morel A, Peyroux E, Leleu A, Favre E, Franck N, Demily C. Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype. Front Pediatr. 2018 May 3;6:102.. eCollection 2018.
6
PWS publications 1st Jan to 31st Mar 2018
Index
General PWS and families
Kayadjanian N, Schwartz L, Farrar E, Comtois KA, Strong TV. High levels of caregiver burden in Prader-Willi syndrome. PLoS One. 2018 Mar 26;13(3):e0194655.. eCollection 2018.
Çizmecioğlu FM, Jones JH, Forsyth Paterson W, Kherra S, Kourime M, McGowan R, Shaikh MG, Donaldson M. Neonatal Features of The Prader-Willi Syndrome; The Case for Making The Diagnosis During The First Week of Life. J Clin Res Pediatr Endocrinol. 2018 Mar 19. [Epub ahead of print]
Genetics and brain imaging
Bochukova EG, Lawler K, Croizier S, Keogh JM, Patel N, Strohbehn G, Lo KK, Humphrey J, Hokken-Koelega A, Damen L, Donze S, Bouret SG, Plagnol V, Farooqi IS. A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.
Cell Rep. 2018 Mar 27;22(13):3401-3408.
Manning KE, Tait R, Suckling J, Holland AJ. Grey matter volume and cortical structure in Prader-Willi syndrome compared to typically developing young adults. Neuroimage Clin. 2017 Dec 20;17:899-909. eCollection 2018
Bischof JM, Wevrick R. Chronic diazoxide treatment decreases fat mass and improves endurance capacity in an obese mouse model of Prader-Willi syndrome. Mol Genet Metab. 2018 Feb 27. pii: S1096-7192(17)31212-X. [Epub ahead of print]
McCarthy JM, McCann-Crosby BM, Rech ME, Yin J, Chen CA, Ali MA, Nguyen HN, Miller JL, Schaaf CP. Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. J Med Genet. 2018 Mar 1. pii: jmedgenet-2017-105024. [Epub ahead of print]
Li H, Du J, Li W, Cheng D, He W, Yi D, Xiong B, Yuan S, Tu C, Meng L, Luo A, Lin G, Lu G, Tan YQ Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature. Mol Cytogenet. 2018 Feb 5;11:15.. eCollection 2018.
Hartin SN, Hossain WA, Weisensel N, Butler MG. Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review. Am J Med Genet A. 2018 Feb 13. [Epub ahead of print]
Ehrhart F, Janssen KJM, Coort SL, Evelo CT, Curfs LMG. Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for two chromosomal disorders. World J Biol Psychiatry. 2018 Feb 9:1-33. [Epub ahead of print]
Wang W, Hu C, Bi X, Yuan H. [Analysis of 10 patients with duplications of 15q11q13 region and autism features].[Article in Chinese]Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 35:23-28
Rodriguez JA, Zigman JM. Hypothalamic loss of Snord116 and Prader-Willi syndrome hyperphagia: the buck stops here? J Clin Invest. 2018 Jan 29. pii: 99725. [Epub ahead of print]
Polex-Wolf J, Lam BY, Larder R, Tadross J, Rimmington D, Bosch F, Cenzano VJ, Ayuso E, Ma MK, Rainbow K, Coll AP, O'Rahilly S, Yeo GS. Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome. J Clin Invest. 2018 Jan 29. pii: 97007. [Epub ahead of print]
Laurito S, Roqué M. [Variation analysis of the number of copies and methylene patterns in region 15q11-q13]. [Article in Spanish] Medicina (B Aires). 2018;78(1):1-5.
Enya T, Okamoto N, Iba Y, Miyazawa T, Okada M, Ida S, Naruto T, Imoto I, Fujita A, Miyake N, Matsumoto N, Sugimoto K, Takemura T. Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. Am J Med Genet A. 2018 Jan 23. [Epub ahead of print]
Ács OD, Péterfia B, Hollósi P, Haltrich I, Sallai Á, Luczay A, Buiting K, Horsthemke B, Török D, Szabó A, Fekete G. [Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome].
[Article in Hungarian] Orv Hetil. 2018 Jan;159(2):64-69.
Talakoub O, Paiva RR, Milosevic M, Hoexter MQ, Franco R, Alho E, Navarro J, Pereira JF Jr, Popovic MR, Savage C, Lopes AC, Alvarenga P, Damiani D, Teixeira MJ, Miguel EC, Fonoff ET, Batistuzzo MC, Hamani C. Lateral hypothalamic activity indicates hunger and satiety states in humans. Ann Clin Transl Neurol. 2017 4:897-901. eCollection 2017 Dec.
Endocrine including GH
Moix Gil E, Giménez-Palop O, Caixàs A. Treatment with growth hormone in the prader-willi syndrome.[Article in English, Spanish] Endocrinol Diabetes Nutr. 2018 Apr;65(4):229-236. Epub 2018 Mar 3
van Nieuwpoort IC, Twisk JWR, Curfs LMG, Lips P, Drent ML. Body composition, adipokines, bone mineral density and bone remodeling markers in relation to IGF-1 levels in adults with Prader-Willi syndrome. Int J Pediatr Endocrinol. 2018;2018:1. Epub 2018 Jan 16.
Brunetti G, Grugni G, Piacente L, Delvecchio M, Ventura A, Giordano P, Grano M, D'Amato G, Laforgia D, Crinò A, Faienza MF. Analysis of Circulating Mediators of Bone Remodeling in Prader-Willi Syndrome. Calcif Tissue Int. 2018 Jan 20. [Epub ahead of print]
Horikawa Y, Enya M, Komagata M, Hashimoto KI, Kagami M, Fukami M, Takeda J. Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader-Willi Syndrome: A Case Report.
Diabetes Ther. 2018 Jan 15. [Epub ahead of print]
Allas S, Caixàs A, Poitou C, Coupaye M, Thuilleaux D, Lorenzini F, Diene G, Crinò A, Illouz F, Grugni G, Potvin D, Bocchini S, Delale T, Abribat T, Tauber M. AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial. PLoS One. 2018 13:e0190849. eCollection 2018.
Sensory and physical
Tanizawa K, Chin K. Genetic factors in sleep-disordered breathing. Respir Investig. 2018 Mar;56(2):111-119.. Epub 2017 Dec 23.
Hyde AM, McMurray RG, Chavoya FA, Rubin DA. Ventilatory Responses During Submaximal Exercise in Children With Prader-Willi Syndrome. Pediatr Exerc Sci. 2018 Feb 27:1-7.. [Epub ahead of print]
Boccellino M, Di Stasio D, Serpico R, Lucchese A, Guida A, Settembre G, Di Domenico M, Rizzo A.
Analysis of saliva samples in patients with Prader-Willi syndrome. J Biol Regul Homeost Agents. 2018 32(2 Suppl. 1):107-111.
Brás DR, Semedo P, Piçarra BC, Fernandes R. Prader-Willi syndrome: a nest for premature coronary artery disease?
BMJ Case Rep. 2018 Feb 7;2018. pii: bcr-2017-222828.
Donze SH, Kuppens RJ, Bakker NE, van Alfen-van der Velden JAEM, Hokken-Koelega ACS.Clin Bone mineral density in young adults with Prader-Willi syndrome: a randomized, placebo-controlled, cross-over GH trial. Endocrinol (Oxf). 2018 Feb 8. [Epub ahead of print]
Oore J, Connell B, Yaszay B, Samdani A, Hilaire TS, Flynn T, El-Hawary R; Children’s Spine Study Group; Growing Spine Study Group. Growth Friendly Surgery and Serial Cast Correction in the Treatment of Early-onset Scoliosis for Patients With Prader-Willi Syndrome. J Pediatr Orthop. 2018 Feb 2.. [Epub ahead of print]
Salehi P, Stafford HJ, Glass RP, Leavitt A, Beck AE, McAfee A, Ambartsumyan L, Chen M. Silent aspiration in infants with Prader-Willi syndrome identified by videofluoroscopic swallow study.
Medicine (Baltimore). 2017 Dec;96(50):e9256.
Canora A, Franzese A, Mozzillo E, Fattorusso V, Bocchino M, Sanduzzi A. Severe obstructive sleep disorders in Prader-Willi syndrome patients in southern Italy. Eur J Pediatr. 2018 Jan 9. [Epub ahead of print]
Trizno AA, Jones AS, Carry PM, Georgopoulos G. The Prevalence and Treatment of Hip Dysplasia in Prader-Willi Syndrome (PWS). J Pediatr Orthop. 2018 Jan 5. [Epub ahead of print]
Ghergan A, Coupaye M, Leu-Semenescu S, Attali V, Oppert JM, Arnulf I, Poitou C, Redolfi S. Prevalence and Phenotype of Sleep Disorders in 60 Adults With Prader-Willi Syndrome. Sleep. 2017 Dec 1;40(12).
Behaviour
Salehi P, Lee D, Ambartsumyan L, Sikka N, Scheimann AO. Rectal Picking Masquerading as Inflammatory Bowel Disease in Prader-Willi Syndrome. J Pediatr Gastroenterol Nutr. 2018 Feb 21. [Epub ahead of print]
Ishii A, Ihara H, Ogata H, Sayama M, Gito M, Murakami N, Ayabe T, Oto Y, Takahashi A, Nagai T. Autistic, Aberrant, and Food-Related Behaviors in Adolescents and Young Adults with Prader-Willi Syndrome: The Effects of Age and Genotype. Behav Neurol. 2017;2017:4615451.. Epub 2017 Dec 26.
Key AP, Dykens EM. Eye Tracking as a Marker of Hyperphagia in Prader-Willi Syndrome.
Dev Neuropsychol. 2018;43(2):152-161. Epub 2018 Feb 7.
Ogata H, Ihara H, Gito M, Sayama M, Murakami N, Ayabe T, Oto Y, Nagai T, Shimoda K. Aberrant, autistic, and food-related behaviors in adults with Prader-Willi syndrome. The comparison between young adults and adults. Res Dev Disabil. 2018 Jan 8;73:126-134. [Epub ahead of print]
Cognition and mental health
Krishnadas R, Cooper SA, Nicol A, Pimlott S, Soni S, Holland AJ, McArthur L, Cavanagh J. Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader-Willi syndrome. Br J Psychiatry. 2018 Jan;212(1):57-58
Crespi B, Read S, Salminen I, Hurd P. A genetic locus for paranoia. Biol Lett. 2018 Jan;14(1). pii: 20170694.
Aman LCS, Manning KE, Whittington JE, Holland AJ. Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome. The Lancet Psychiatry e- Published: 15 January 2018