PWS Research Papers, 2019

PWS publications July - September 2019

For all abstracts click here

Covering the latest in:

Genetics & Brain Imaging

General PWS & families

Endocrine including GH

Sensory & Physical

Behaviour

Cognition & Mental Health

 

PWS publications April to June 2019

For all abstracts, click here

Covering the latest in:

Genetics & Brain Imaging

General PWS & families

Endocrine including GH

Sensory & Physical

Behaviour

Cognition & Mental Health

 

PWS publications 1st Jan  to 31st Mar  2019

 

For all abstracts, click here

 

General PWS and families

Burke SL, Wagner E, Marolda H, Quintana JE, Maddux MGap analysis of service needs for adults with neurodevelopmental disorders.  J Intellect Disabil. 2019 Mar;23(1):97-116. Epub 2017 Aug 29.

 

Duis J, van Wattum PJ, Scheimann A, Salehi P, Brokamp E, Fairbrother L, Childers A, Shelton AR, Bingham NC, Shoemaker AH, Miller JLA multidisciplinary approach to the clinical management of Prader-Willi syndrome.  Mol Genet Genomic Med. 2019 Jan 29. [Epub ahead of print]

 

Quist M, Chopp D, Wilson CM, Radesky JIneffective Homeschooling in a Child with a Learning Disability.   J Dev Behav Pediatr. 2019 Jan 14. [Epub ahead of print]

 

Genetics and brain imaging

 

Jang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH7 Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JHJang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH7 Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JHAnn Lab Med. 2019 May;39(3):299-310. doi: 10.3343/alm.2019.39.3.299.

 

Gong W, Yao X, Liang Q, Tong Y, Perrett S, Feng YResonance assignments for the tandem PWWP-ARID domains of human RBBP1. Biomol NMR Assign. 2019 Apr;13(1):177-181. Epub 2019 Jan 21.

 

Soeda S, Saito R, Fujita N, Fukuta K, Taniura HNeuronal differentiation defects in induced pluripotent stem cells derived from a Prader-Willi syndrome patient. Neurosci Lett. 2019 Mar 19;703:162-167.. [Epub ahead of print]

 

Kim Y, Wang SE, Jiang YHEpigenetic therapy of Prader-Willi syndrome.Transl Res. 2019 Mar 5. pii: S1931-5244(19)30048-9. [Epub ahead of print]

 

Liang D, Cram DS, Tan H, Linpeng S, Liu Y, Sun H, Zhang Y, Tian F, Zhu H, Xu M, Wang H, Yu F, Wu L.  Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes.  Genet Med. 2019 Mar 4.. [Epub ahead of print]

 

Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami MExploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.  Clin Epigenetics. 2019 Feb 28;11(1):36.

 

Hartin SN, Hossain WA, Francis D, Godler DE, Barkataki S, Butler MGAnalysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.   Mol Genet Genomic Med. 2019 Feb 21:e575. [Epub ahead of print]

 

Butler MG, Hartin SN, Hossain WA, Manzardo AM, Kimonis V, Dykens 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. 2019 Mar;56(3):149-153.. Epub 2018 May 5.

 

Hattori H, Hiura H, Kitamura A, Miyauchi N, Kobayashi N1 Takahashi S, Okae H, Kyono K, Kagami M, Ogata T, Arima TAssociation of four imprinting disorders and ART.   Clin Epigenetics. 2019 Feb 7;11(1):21

 

Salminen II, Crespi BJ, Mokkonen MBaby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes.  SAGE Open Med. 2019 Jan 28;7:2050312118823585.. eCollection 2019.

 

Azor AM, Cole JH, Holland AJ, Dumba M, Patel MC, Sadlon A, Goldstone AP, Manning KE.  Increased brain age in adults with Prader-Willi syndrome.  Neuroimage Clin. 2019 Jan 10:101664. [Epub ahead of print]

 

Jang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH, Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JHChromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.  Ann Lab Med. 2019 May;39(3):299-310.

 

Franco RR, Fonoff ET, Alvarenga PG, Alho EJL, Lopes AC, Hoexter MQ, Batistuzzo MC, Paiva RR, Taub A  Shavitt RG, Miguel EC, Teixeira MJ, Damiani D, Hamani C.  Assessment of Safety and Outcome of Lateral Hypothalamic Deep Brain Stimulation for Obesity in a Small Series of Patients With Prader-Willi Syndrome   JAMA Netw Open. 2018 Nov 2;1(7):e185275.

 

 

Endocrine including GH

 

Orsso CE, Butler AA, Muehlbauer MJ, Cui HN, Rubin DA, Pakseresht M, Butler MG, Prado CM, Freemark M, Haqq AMObestatin and adropin in Prader-Willi syndrome and nonsyndromic obesity: Associations with weight, BMI-z, and HOMA-IR.  Pediatr Obes. 2019 May;14(5):e12493.. Epub 2018 Dec 27.

 

Iughetti L, Vivi G, Balsamo A, Corrias A, Crinò A, Delvecchio M, Gargantini L, Greggio NA, Grugni G, Hladnik U, Pilotta A, Ragusa L, Salvatoni A, Wasniewska M, Weber G, Predieri BThyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients.   J Pediatr Endocrinol Metab. 2019 Feb 25;32(2):159-165.

 

Uehara M, Nakamura Y, Takahashi J, Suzuki T, Iijima M, Arakawa Y, Ida K, Kosho T, Kato HUehara M, Nakamura Y, Takahashi J, Suzuki T, Iijima M, Arakawa Y, Ida K, Kosho T, Kato H

Efficacy of denosumab therapy for a 21-year-old woman with Prader-Willi syndrome, osteoporosis and history of fractures: a case report.  Ther Clin Risk Manag. 2019 Feb 25;15:303-307. eCollection 2019.

 

Feingold KRAtypical Forms of Diabetes.  In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, Hershman JM, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Perreault L, Purnell J, Rebar R, Singer F, Trence DL, Vinik A, Wilson DP, editors.   Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.2019 Mar 19.

 

Morales JS, Valenzuela PL, Pareja-Galeano H, Rincón-Castanedo C, Rubin DA, Lucia APhysical exercise and Prader-Willi syndrome: A systematic review.  Clin Endocrinol (Oxf). 2019 Feb 20.. [Epub ahead of print]

 

Gaddas M, Périn L, Le Bouc Y.  Evaluation of IGF1/IGFBP3 Molar Ratio as an Effective Tool for Assessing the Safety of GH Therapy in Small-for-Gestational-Age, GH-Deficient and Prader-Willi Children   J Clin Res Pediatr Endocrinol. 2019 Feb 14.. [Epub ahead of print]

 

Bedogni G, Grugni G, Tringali G, Tamini S, Marzullo P, Sartorio AAssessment of fat-free mass from bioelectrical impedance analysis in men and women with Prader-Willi syndrome: cross-sectional study.   Int J Food Sci Nutr. 2019 Feb 4:1-5.. [Epub ahead of print]

 

Martinelli V, Chiappedi M, Pellegrino E, Zugnoni M, Caccialanza R, Muggia C, Cogni G, Chiovato L, Bichisao G, Politi P, Pietrabissa A, Peri ALaparoscopic sleeve gastrectomy in an adolescent with Prader-Willi syndrome: psychosocial implications.  Diabet Med. 2019 Jan 28.. [Epub ahead of print]

 

Iughetti L, Vivi G, Balsamo A, Corrias A, Crinò A, Delvecchio M, Gargantini L, Greggio NA, Grugni G, Hladnik U, Pilotta A, Ragusa L, Salvatoni A, Wasniewska M, Weber G, Predieri BThyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients.

J Pediatr Endocrinol Metab. 2019 Jan 31. pii: /j/jpem.ahead-of-print/jpem-2018-0388/jpem-2018-0388.xml. [Epub ahead of print]

 

Lutski M, Zucker I, Zadik Z, Libruder C, Blumenfeld O, Shohat T, Laron ZPrevalence of diabetes among children treated with growth hormone in Israel.  Diabet Med. 2019 Jan 28. [Epub ahead of print]

 

Irizarry KA, Mager DR, Triador L, Muehlbauer MJ Haqq AM, Freemark M.  Hormonal and metabolic effects of carbohydrate restriction in children with Prader Willi syndrome.  Clin Endocrinol (Oxf). 2019 Jan 7. [Epub ahead of print]

 

Blanco-Hinojo L, Pujol J, Esteba-Castillo S, Martínez-Vilavella G, Giménez-Palop O, Gabau E, Casamitjana L, Deus J, Novell R, Caixàs ALack of response to disgusting food in the hypothalamus and related structures in Prader Willi syndrome. Neuroimage Clin. 2019 Jan 4:101662. [Epub ahead of print]

 

 

Sensory and physical

 

Martinelli V, Chiappedi M, Pellegrino E, Zugnoni M, Caccialanza R, Muggia C, Cogni G, Chiovato L,  Bichisao G, Politi P, Pietrabissa A, Peri A.  Laparoscopic sleeve gastrectomy in an adolescent with Prader-Willi syndrome: psychosocial implications.  Nutrition. 2019 May;61:67-69. Epub 2018 Nov 7.

 

Rubin DA, Wilson KS, Dumont-Driscoll M, Rose DJEffectiveness of a Parent-led Physical Activity Intervention in Youth with Obesity.  Med Sci Sports Exerc. 2019 Apr;51(4):805-813.

 

Xiao KK, Tomur S, Beckerman R, Cassidy K, Lypka M  Orthognathic Correction in Prader-Willi Syndrome: Occlusion and Sleep Restored.  Cleft Palate Craniofac J. 2019 Mar;56(3):415-418.. Epub 2018 May 11.

 

Rubin DA, Wilson KS, Castner DM, Dumont-Driscoll MCChanges in Health-Related Outcomes in Youth With Obesity in Response to a Home-Based Parent-Led Physical Activity Program.  J Adolesc Health. 2019 Mar 1. pii: S1054-139X(18)30799-7. [Epub ahead of print]

 

Uehara M, Takahashi J, Kuraishi S, Ikegami S, Futatsugi T, Oba H, Takizawa T, Munakata R, Koseki M, Kato HTwo-stage posterior spinal fusion for early-onset scoliosis: Two case reports.  Medicine (Baltimore). 2019 Mar;98(9):e14728.

 

Trachsel D, Datta AN[Sleep-Disordered Breathing in Childhood].[Article in German; Abstract available in German from the publisher]   Praxis (Bern 1994). 2019 Jan;108(2):97-102..

 

Gabrielli A, Poje AB, Manzardo A, Butler MGStartle response analysis of food-image processing in Prader-Willi syndrome.  J Rare Disord. 2018 Oct;6(1):18-27.

 

 

Behaviour

 

Pansy J, Barones C, Urlesberger B, Pokorny FB, Bartl-Pokorny KD, Verheyen S, Marschik PB, Einspieler CEarly motor and pre-linguistic verbal development in Prader-Willi syndrome - A case report.  Res Dev Disabil. 2019 May;88:16-21.. Epub 2019 Feb 28.

 

Neo WS, Tonnsen BLBrief Report: Challenging Behaviors in Toddlers and Preschoolers with Angelman, Prader-Willi, and Williams Syndromes.  J Autism Dev Disord. 2019 Apr;49(4):1717-1726.

 

Singh D, Wakimoto Y, Filangieri C, Pinkhasov A, Angulo MGuanfacine Extended Release for the Reduction of Aggression, Attention-Deficit/Hyperactivity Disorder Symptoms, and Self-Injurious Behavior in Prader-Willi Syndrome-A Retrospective Cohort Study.  J Child Adolesc Psychopharmacol. 2019 Feb 6.. [Epub ahead of print]

PWS publications from 1 October - 31 December, 2018

For Abstracts, click here

Index
 
General PWS and families

 

Proffitt J, Osann K, McManus B, Kimonis VE, Heinemann J, Butler MG, Stevenson DA, Gold JAContributing factors of mortality in Prader-Willi syndrome.  Am J Med Genet A. 2018 Dec 19.. [Epub ahead of print]

 

Pianka MA, McIntosh AT, Patel SD, Bakhshi PR, Jung MClose yet so far away: a look into the management strategies of genetic imprinting disorders.  Am J Stem Cells. 2018 Oct 1;7(4):72-81. eCollection 2018.

 

Zyga O, Russ SW, Dimitropoulos A.  The PRETEND Program: Evaluating the Feasibility of a Remote Parent-Training Intervention for Children With Prader-Willi Syndrome.  Am J Intellect Dev Disabil. 2018 Nov;123(6):574-584.

 

Rubin DA, Wilson KS, Dumont-Driscoll M, Rose DJEffectiveness of a Parent-led Physical Activity Intervention in Youth with Obesity.  Med Sci Sports Exerc. 2018 Nov 6.. [Epub ahead of print]

 

Passone CBG, Pasqualucci PL, Franco RR, Ito SS, Mattar LBF, Koiffmann CP, Soster LA, Carneiro JDA, Cabral Menezes-Filho H, Damiani DPRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW.  Rev Paul Pediatr. 2018 Jul-Sep;36(3):345-352.  [Article in English, Portuguese; Abstract available in Portuguese from the publisher]

 

Reissland N, Makhmud A  Froggatt SComparing a fetus diagnosed with Prader-Willi-syndrome with non-affected fetuses during light and sound stimulation using 4_D_ultrasound.  Acta Paediatr. 2018 Oct 26.. [Epub ahead of print]

 

Adams D, Hastings RP, Alston-Knox C, Cianfaglione R, Eden K, Felce D, Griffith G, Moss J, Stinton C, Oliver CUsing Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.

Orphanet J Rare Dis. 2018 Oct 25;13(1):185.

 

 

Genetics and brain imaging

 

Mahmoud R, Singh P, Weiss L, Lakatos A, Oakes M, Hossain W, Butler MG, Kimonis VNewborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes.  Am J Med Genet A. 2018 Dec 17. [Epub ahead of print]

 

Maver A, Čuturilo G, Kovanda A, Miletić A, Peterlin BRare missense TUBGCP5 gene variant in a patient with primary microcephaly. Eur J Med Genet. 2018 Dec 10. pii: S1769-7212(18)30274-X. [Epub ahead of print]

 

Pascut D, Tamini S, Bresolin S, Giraudi P, Basso G, Minocci A  Tiribelli C, Grugni G, Sartorio A.

Differences in circulating microRNA signature in Prader-Willi syndrome and non-syndromic obesity.  Endocr Connect. 2018 Oct 1. pii: /journals/ec/aop/ec-18-0329.xml.. [Epub ahead of print]

 

Zink F, Magnusdottir DN, Magnusson OT, Walker NJ  Morris TJ, Sigurdsson A, Halldorsson GH  Gudjonsson SA, Melsted P, Ingimundardottir H  Kristmundsdottir S, Alexandersson KF, Helgadottir A, Gudmundsson J, Rafnar T, Jonsdottir I, Holm H, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Masson G, Gudbjartsson DF, Thorsteinsdottir U, Halldorsson BV, Stacey SN, Stefansson KInsights into imprinting from parent-of-origin phased methylomes and transcriptomes.  Nat Genet. 2018 Oct 22. [Epub ahead of print]

 

Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J.

Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.  J Bone Miner Res. 2018 Oct 22.. [Epub ahead of print]

 

Butler MG, Hossain WA, Tessman R, Krishnamurthy PC   Preliminary observations of mitochondrial dysfunction in Prader-Willi syndrome.  Am J Med Genet A. 2018 Oct 5. [Epub ahead of print]

 

 
Endocrine including GH

 

Orsso CE, Butler AA, Muehlbauer MJ, Cui HN, Rubin DA, Pakseresht M, Butler MG, Prado CM, Freemark M, Haqq AMObestatin and adropin in Prader-Willi syndrome and nonsyndromic obesity: Associations with weight, BMI-z, and HOMA-IR.  Pediatr Obes. 2018 Dec 27:e12493. [Epub ahead of print]

 

Shepherd S, Saraff V, Shaw N, Banerjee I, Patel LGrowth hormone prescribing patterns in the UK, 2013-2016.   Arch Dis Child. 2018 Dec 19. pii: archdischild-2018-316262. [Epub ahead of print]

 

Oto Y, Murakami N, Matsubara K, Ogata H, Ihara H, Matsubara T, Nagai TEarly adiposity rebound in patients with Prader-Willi syndrome.  J Pediatr Endocrinol Metab. 2018 Nov 8. pii: /j/jpem.ahead-of-print/jpem-2018-0301/jpem-2018-0301.xml.. [Epub ahead of print]

 

Rodriguez JA, Bruggeman EC, Mani BK, Osborne-Lawrence S, Lord CC, Roseman H, Viroslav HL, Vijayaraghavan P, Metzger NP, Gupta D, Shankar K, Pietra C, Liu C, Zigman JMGhrelin Receptor Agonist Rescues Excess Neonatal Mortality in a Prader-Willi Syndrome Mouse Model.  Endocrinology. 2018 Oct 30.. [Epub ahead of print]

 

Tauber M, Diene G, Molinas CGrowth Hormone Treatment for Prader-Willi Syndrome.

Pediatr Endocrinol Rev. 2018 Sep;16(Suppl 1):91-99

 

Hyde AM,  Chavoya FA, Silveira FV, Beam WC, Rubin DAMetabolic responses to walking in children with Prader-Willi syndrome on growth hormone replacement therapy.  Am J Med Genet A. 2018 Oct 22:e40509. [Epub ahead of print]

 

Griggs JL Mathai ML, Sinnayah PCaralluma fimbriata extract activity involves the 5-HT2c receptor in PWS Snord116 deletion mouse model.  Brain Behav. 2018 Oct 23:e01102. [Epub ahead of print]

 

Edge R, la Fleur P, Adcock LHuman Growth Hormone Treatment for Children with Prader-Willi Syndrome: A Review of Clinical Effectiveness, Cost-Effectiveness, and Guidelines [Internet].

Ottawa (ON): Canadian Agency for Drugs and Technologies in Health; 2018 Jan. CADTH Rapid Response Reports.

 

Rubin DA, Duran AT, Haqq AM, Gertz ER, Dumont-Driscoll MChanges in cardiometabolic markers in children with Prader-Willi syndrome and nonsyndromic obesity following participation in a home-based physical activity intervention.Pediatr Obes. 2018 Nov;13(11):734-743.. Epub 2018 Sep 17.

 

 

Sensory and physical

 

Polytarchou A, Katsouli G, Tsaoussoglou M, Charmandari E, Kanaka-Gantenbein C, Chrousos G, Kaditis AG  Obstructive events in children with Prader-Willi syndrome occur predominantly during rapid eye movement sleep. .Sleep Med. 2018 Oct 28;54:43-47. [Epub ahead of print]

 

Hamid MA, Mehta MC, Kuppermann BDMultimodal imaging in a patient with Prader-Willi syndrome.  Int J Retina Vitreous. 2018 Nov 30;4:45. eCollection 2018.

 

Belluscio V, Bergamini E, Salatino G, Marro T, Gentili P, Iosa M, Morelli D, Vannozzi G. Dynamic balance assessment during gait in children with Down and Prader-Willi syndromes using inertial sensors.  Hum Mov Sci. 2018 Nov 28;63:53-61. [Epub ahead of print]

 

Ishihara Y, Sugawara Y, Ei Hsu Hlaing E, Nasu M, Kataoka T, Odagaki N, Takano-Yamamoto T, Yamashiro T, Kamioka H  Orthodontic correction of severe Class II malocclusion in a patient with Prader-Willi syndrome.  Am J Orthod Dentofacial Orthop. 2018 Nov;154(5):718-732.

 

Brunetti G, D'Amato G, Chiarito M, Tullo A, Colaianni G, Colucci S, Grano M, Faienza MF  World J  An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.  Pediatr. 2018 Oct 20. [Epub ahead of print]

 

Zaffanello M, Antoniazzi F, Tenero L, Nosetti L, Piazza M, Piacentini GSleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders.  Ann Transl Med. 2018 6:343.

 

 

Behaviour

 

Salehi P, Herzig L, Capone G, Lu A, Oron AP, Kim SJComparison of Aberrant Behavior Checklist profiles across Prader-Willi syndrome, Down syndrome, and autism spectrum disorder.  Am J Med Genet A. 2018 Dec;176(12):2751-2759. Epub 2018 Dec 21.

 

Neo WS, Tonnsen BLBrief Report: Challenging Behaviors in Toddlers and Preschoolers with Angelman, Prader-Willi, and Williams Syndromes.  J Autism Dev Disord. 2018 Dec 12. [Epub ahead of print]

 

Crinò A, Fintini D, Bocchini S, Grugni GObesity management in Prader-Willi syndrome: current perspectives.  Diabetes Metab Syndr Obes. 2018 Oct 4;11:579-593. eCollection 2018.

 

Rice LJ, Woodcock K, Einfeld SL The characteristics of temper outbursts in Prader-Willi syndrome.  Am J Med Genet A. 2018  Oct 5. [Epub ahead of print]

 

 
Cognition and mental health

 

Chevalère J, Jauregi J, Copet P, Laurier V, Thuilleaux D, Postal VInvestigation of the relationship between electrodermal and behavioural responses to executive tasks in Prader-Willi syndrome: An event-related experiment.Res Dev Disabil. 2018 Dec 24;85:229-242. [Epub ahead of print]

 

Briegel W.  Clinical Usefulness of Aripiprazole Treatment in a Girl with Prader-Willi Syndrome and Psychosis.   Clin Psychopharmacol Neurosci. 2018 Nov 30;16(4):497-500.

 

Robb N, Northridge J, Politis Y, Zhang B   Parental Intention to Support the Use of Computerized Cognitive Training for Children With Genetic Neurodevelopmental Disorders.   Front Public Health. 2018 Oct 24;6:309.. eCollection 2018.

 

Whittington J, Holland AA review of psychiatric conceptions of mental and behavioural disorders in Prader-Willi syndrome.  Neurosci Biobehav Rev. 2018 Oct 28;95:396-405. [Epub ahead of print]

 

Thomason MM, McCarthy J, Goin-Kochel RP, Dowell LR, Schaaf CP, Berry LNNeurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.  J Autism Dev Disord. 2018 Oct 20. [Epub ahead of print]

 

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

 

Dykens EM, Miller J, Angulo M, Roof E, Reidy M, Hatoum HT, Willey R, Bolton G, Korner P.  Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome.

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

(Abstracts download here)

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

Douglas House, 18b Trumpington Road, Cambridge

CB2 8AH. UK

Phone: +44.1223465216

  • email
  • Facebook Social Icon
  • Twitter Social Icon
  • Blogger Social Icon
  • YouTube Social  Icon