Latest research papers 2019

PWS publications July - September 2019

Download abstracts here

Latest papers on

General PWS & Families

Genetics & Brain Imaging

Endocrine including GH

Sensory & physical

Behaviour

Cognition & Mental Health

General PWS and families

Bohonowych J, Miller J, McCandless SE, Strong TV.  The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics.  Genes (Basel). 2019 Sep 14;10(9). pii: E713. 

Mao SJ, Shen J, Xu F, Zou CC. I.  World J Pediatr. 2019 Sep 13.. [Epub ahead of print]

Demir K, Konakçı E, Özkaya G, Kasap Demir B, Özen S, Aydın M, Darendeliler F.  New Features for Child Metrics: Further Growth References and Blood Pressure Calculations  J Clin Res Pediatr Endocrinol. 2019 Sep 2.. [Epub ahead of print]

Butler MG, Miller JL, Forster JL.  Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.  Curr Pediatr Rev. 2019 Jul 16.. [Epub ahead of print]

Sävendahl L, Polak M, Backeljauw P Blair J, Miller BS, Rohrer TR, Pietropoli A, Ostrow V, Ross J
Treatment of Children with Growth Hormone in the US and Europe: Long-term Follow-up from NordiNet IOS and ANSWER Program. J Clin Endocrinol Metab. 2019 Jul 15. pii: jc.2019-00775.. [Epub ahead of print].

Mackay J, McCallum Z, Ambler GR, Vora K, Nixon G, Bergman P, Shields N, Milner K, Kapur N, Crock P, Caudri D, Curran J, Verge C, Seton C, Tai A, Tham E, Musthaffa Y, Lafferty AR, Blecher G, Harper J, Schofield C, Nielsen A, Wilson A, Leonard H, Choong CS, Downs J.  Requirements for improving health and well-being of children with Prader-Willi syndrome and their families. J Paediatr Child Health. 2019 Jun 30.. [Epub ahead of print]


Genetics and brain imaging

Colovati MES, Grossi BM, Nunes GD, Fock RA, Guedes DR, Melaragno MI, Cernach MCSP.  Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation.  Cytogenet Genome Res. 2019 Aug 9.. [Epub ahead of print]

Wang SE, Jiang YH.  Potential of Epigenetic Therapy for Prader-Willi Syndrome.  Trends Pharmacol Sci. 2019 Jul 25. pii: S0165-6147(19)30139-7. [Epub ahead of print]

Babbs RK, Beierle JA, Ruan QT, Kelliher JC, Chen MM, Feng AX, Kirkpatrick SL, Benitez FA, Rodriguez FA, Pierre JJ, Anandakumar J, Kumar V, Mulligan MK, Bryant CD.  Cyfip1 Haploinsufficiency Increases Compulsive-Like Behavior and Modulates Palatable Food Intake in Mice: Dependence on Cyfip2 Genetic Background, Parent-of Origin, and Sex.  G3 (Bethesda). 2019 Jul 19. pii: g3.400470.2019.. [Epub ahead of print]

Iourov IY, Vorsanova SG, Zelenova MA, Vasin KS, Kurinnaia OS, Korostelev SA, Yurov YB.  
[Epigenomic variations manifesting as a loss of heterozygosity affecting imprinted genes represent a molecular mechanism of autism spectrum disorders and intellectual disability in children].
[Article in Russian; Abstract available in Russian from the publisher]  Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(5):91-97..

Ge MM, Gao YY, Wu BB, Yan K, Qin Q, Wang H, Zhou W, Yang L  Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome.  Mol Biol Rep. 2019 Jul 3.. [Epub ahead of print]

Chen W, Xu D, Ma C, Zhang C, Li J, Zhang W, Zhao G, Li S.  The molecular structure and imprinting status of the IPW (imprinted gene in the Prader-Willi syndrome region) gene in cattle.
Anim Genet. 2019 Jul 3. [Epub ahead of print]


Endocrine including GH

Yang A, Choi JH, Sohn YB, Eom Y, Lee J, Yoo HW, Jin DK.  Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial.   Orphanet J Rare Dis. 2019 Sep 11;14(1):216.

Palmieri VV,Lonero A, Bocchini S, Cassano G, Convertino A, Corica D, Crinò A, Fattorusso V, Ferraris S, Fintini D, Franzese A, Grugni G, Iughetti L, Lia R, Macchi F, Madeo SF, Matarazzo P, Nosetti L, Osimani S, Pajno R, Patti G, Pellegrin MC, Perri A, Ragusa L, Rutigliano I, Sacco M, Salvatoni A, Scarano E, Stagi S, Tornese G, Trifirò G, Wasniewska M, Fischetto R, Giordano P, Licenziati MR, Delvecchio M; Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology.  Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment.  Growth Horm IGF Res. 2019 Aug 28;48-49:9-15.. [Epub ahead of print]

Laumonerie P, Tibbo ME, Ibnoulkhatib A, Kerezoudis P, Diene G, Thevenin Lemoine C, Accadbled F, Sales de Gauzy J.  Evolution of Hip Dysplasia in Pediatric Patients With Prader-Willi Syndrome Treated With Growth Hormone Early in Development.  J Pediatr Orthop. 2019 Aug 30. [Epub ahead of print]

Braxton TM, Sarpong DE, Dovey JL, Guillou A, Evans B, Castellano JM, Keenan BE, Baraghithy S, Evans SL, Tena-Sempere M, Mollard P, Tam J, Wells T.  Thermoneutrality improves skeletal impairment in adult Prader-Willi syndrome mice.  J Endocrinol. 2019 Aug 1. pii: JOE-19-0279.R1.. [Epub ahead of print

Donze SH, Hokken-Koelega ACS. Reply to Commentary on 'Prevalence of growth hormone (GH) deficiency in previously GH treated young adults with Prader-Willi syndrome'.  Clin Endocrinol (Oxf). 2019 Jul 23.. [Epub ahead of print]

Deng L, Wang R, Li H, Zhang C, Zhao L, Zhang M.  miRNA-Gene Regulatory Network in Gnotobiotic Mice Stimulated by Dysbiotic Gut Microbiota Transplanted From a Genetically Obese Child.  Front Microbiol. 2019 Jul 5;10:1517.. eCollection 2019.

Canning DA.  Re: Orchidopexy in Children with Prader-Willi Syndrome: Results of a Long-Term Follow-up Study.   J Urol. 2019 Jul 9:10109701JU000057701264888f4.. [Epub ahead of print]

Corripio R, Tubau C, Calvo L, Brun C, Capdevila N, Larramona H, Gabau E.  Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study.  J Pediatr Endocrinol Metab. 2019 Jul 4. pii: /j/jpem.ahead-of-print/jpem-2018-0539/jpem-2018-0539.xml. . [Epub ahead of print]


Sensory and physical

Liu SY, Wong SK, Lam CC, Ng EK.  Bariatric surgery for Prader-Willi syndrome was ineffective in producing sustainable weight loss: Long term results for up to 10 years.  Pediatr Obes. 2019 Sep 12. [Epub ahead of print]

Demir K, Konakçı E, Özkaya G, Kasap Demir B, Özen S, Aydın M, Darendeliler F.  New Features for Child Metrics: Further Growth References and Blood Pressure Calculations  J Clin Res Pediatr Endocrinol. 2019 Sep 2.. [Epub ahead of print]

Laumonerie P, Tibbo ME, Ibnoulkhatib A, Kerezoudis P, Diene G, Thevenin Lemoine C, Accadbled F, Sales de Gauzy J.  Evolution of Hip Dysplasia in Pediatric Patients With Prader-Willi Syndrome Treated With Growth Hormone Early in Development.  J Pediatr Orthop. 2019 Aug 30.. [Epub ahead of print]

Lima FCB, do Nascimento Junior EB, Teixeira SS, Coelho FM, Oliveira GDP.  Thinking outside the box: cataplexy without narcolepsy.  Sleep Med. 2019 Mar 20. pii: S1389-9457(19)30068-1.. [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. 2019 Sep;39(8):e597-e601. 

Salvatoni A, Moretti A, Grugni G, Agosti M, Azzolini S, Bonaita V, Cianci P, Corica D, Crinò A, Delvecchio M, Ferraris S, Greggio NA, Iughetti L, Licenziati MR, Madeo SF, Nosetti L1Pajno R, Rutigliano I, Sacco M, Salvatore S, Scarano E, Trifirò G, Wasniewska M.  Anthropometric characteristics of newborns with Prader-Willi syndrome.  Am J Med Genet A. 2019 Jul 30.. [Epub ahead of print]

Manzardo AM, Heinemann J, McManus B, Loker C, Loker J, Butler MG.  Venous Thromboembolism in Prader-Willi Syndrome: A Questionnaire Survey.  Genes (Basel). 2019 Jul 19;10(7). pii: E550..

Bantim YCV, Kussaba ST, de Carvalho GP, Garcia-Junior IR, Roman-Torres CVG.  Oral health in patients with Prader-Willi syndrome: current perspectives. Clin Cosmet Investig Dent. 2019 Jul 4;11:163-170.. eCollection 2019.


Behaviour

Kimonis V, Surampalli A, Wencel M, Gold JA, Cowen NM.  A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome  PLoS One. 2019 Sep 23;14(9):e0221615.. eCollection 2019.

Kato E, Kimura M, Okuda T, Toyoda M, Fukagawa M.  Behavior Modification Maintenance with Long-Term Blood Glucose and Weight Management in Prader-Willi Syndrome Complicated with Diabetes: Team Management Approach Combined with Pharmacological Treatment.  Case Rep Med. 2019 Jul 8;2019:6129019.. eCollection 2019.

Devine DP.  Animal Models of Self-Injurious Behavior: An Update.  Methods Mol Biol. 2019;2011:41-60. 

Cognition and mental health

Dimitropoulos A, Zyga O, Russ SW.  Early Social Cognitive Ability in Preschoolers with Prader-Willi Syndrome and Autism Spectrum Disorder.  J Autism Dev Disord. 2019 Aug 6.. [Epub ahead of print]

Estival S, Krasny-Pacini A, Laurier V, Maugard C, Thuilleaux D, Postal V. Cognitive Training Targeting Planning Dysfunction in Adults with Prader-Willi Syndrome: Brief Report of a Study Protocol.Dev Neurorehabil. 2019 Jul 29:1-7.. [Epub ahead of print]

Butler MG, Matthews NA, Patel N, Surampalli A, Gold JA, Khare M, Thompson T, Cassidy SB, Kimonis VE.  Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index.  Am J Med Genet A. 2019 Jul 16. [Epub ahead of print]

 

PWS publications April to June 2019

(Download abstracts here)

Latest papers on

General PWS & Families

Genetics & Brain Imaging

Endocrine including GH

Sensory & Physical

Behaviour

Cognition & Mental Health

 

PWS publications 1st Jan  to 31st Mar  2019

 

(To download 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 July to September 2018

(Please download abstracts here)

General PWS and families

 

Tsai JH, Scheimann AO, McCandless SE, Strong TV, Bridges JFP   Caregiver priorities for endpoints to evaluate treatments for Prader-Willi syndrome: a best-worst scaling.   J Med Econ. 2018 Sep 26:1-16.. [Epub ahead of print]

 

Góralska M, Bednarczuk T, Rosłon M, Libura M, Szalecki M, Hilczer M, Stawerska R, Smyczyńska J, Karbownik-Lewińska M, Walczak M, Lewiński A.   Management of Prader-Willi Syndrome (PWS) in adults - what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology.   Endokrynol Pol. 2018;69(4).

 

Barclay SF, Rand CM, Nguyen L, Wilson RJA, Wevrick R, Gibson WT, Bech-Hansen NT, Weese-Mayer DEROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison.

Orphanet J Rare Dis. 2018 Jul 20;13(1):124.

 

 

Genetics and brain imaging

 

Xing YH, Chen LLProcessing and roles of snoRNA-ended long noncoding RNAs.  Crit Rev Biochem Mol Biol. 2018 Sep 25:1-11. [Epub ahead of print]

 

Ates T, Oncul M, Dilsiz P, Topcu IC, Civas CC, Alp MI, Aklan I, Oz EA, Yavuz Y, Yilmaz B, Atasoy NS ,Atasoy D Inactivation of Magel2 suppresses oxytocin neurons through synaptic excitation-inhibition imbalance.   Neurobiol Dis. 2018 Sep 18. pii: S0969-9961(18)30395-4.. [Epub ahead of print]

 

Kleinendorst L, Pi Castán G, Caro-Llopis A, Boon EMJ, van Haelst MMThe role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.Am J Med Genet A. 2018 Sep 20. [Epub ahead of print]

 

Panigrahi I, Jain P, Didel S, Agarwal S, Muthuswamy S, Saha A, Kulkarni V  Identification of microdeletion and microduplication syndromes by chromosomal microarray in patients with intellectual disability with dysmorphism.  Neurol India. 2018 Sep-Oct;66(5):1370-1376.

 

Chatron N, Till M, Abel C, Bardel C, Ramond F, Sanlaville D  Schluth-Bolard C  Rare Autosomal Trisomies (RATs) detection through Non Invasive Prenatal Testing (NIPT): Benefits for pregnancy management.  Ultrasound Obstet Gynecol. 2018 Aug 20. [Epub ahead of print]

 

Coulson RL, Powell WT, Yasui DH, Dileep G, Resnick J, LaSalle JMPrader-Willi locus Snord116 RNA processing requires an active endogenous allele and neuron-specific splicing by Rbfox3/NeuN.

Hum Mol Genet. 2018 Aug 14.. [Epub ahead of print]

 

Pólvora-Brandão D, Joaquim M, Godinho I, Aprile D, Álvaro AR, Onofre I, Raposo AC, Almeida LP, Duarte ST, Rocha ST  Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs.  Hum Mol Genet. 2018 Aug 8.. [Epub ahead of print]

 

Eldar-Geva T, Gross-Tsur V, Hirsch HJ, Altarescu G, Segal R, Zeligson S, Golomb E, Epsztejn-Litman S, Eiges R Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male.

Mol Genet Genomic Med. 2018 Jul 12.. [Epub ahead of print]

 

Welden JR, Zhang Z, Duncan MJ, Falaleeva M, Wells T, Stamm SThe posterior pituitary expresses the serotonin receptor 2C.   Neurosci Lett. 2018 Jun 30. pii: S0304-3940(18)30454-3. [Epub ahead of print]

 

 

Endocrine including GH

 

Mackenzie ML, Triador L, Gill JK, Pakseresht M, Mager D, Field CJ, Haqq AMDietary intake in youth with prader-willi syndrome.   Am J Med Genet A. 2018 Sep 14. [Epub ahead of print]

 

Viardot A, Purtell L, Nguyen TV, Campbell LVRelative Contributions of Lean and Fat Mass to Bone Mineral Density: Insight From Prader-Willi Syndrome.   Front Endocrinol (Lausanne). 2018 Aug 22;9:480.. eCollection 2018.

 

Koizumi M, Ida S, Shoji Y, Nishimoto Y, Etani Y, Kawai MVisceral adipose tissue increases shortly after the cessation of GH therapy in adults with Prader-Willi syndrome.   Endocr J. 2018 Sep 4. [Epub ahead of print]

 

Viardot A, Purtell L, Nguyen TV, Campbell LVRelative Contributions of Lean and Fat Mass to Bone Mineral Density: Insight From Prader-Willi Syndrome.  Front Endocrinol (Lausanne). 2018 Aug 22;9:480.. eCollection 2018.

 

Koizumi M, Ida S, Shoji Y, Nishimoto Y, Etani Y, Kawai M. Visceral adipose tissue increases shortly after the cessation of GH therapy in adults with Prader-Willi syndrome.

Endocr J. 2018 Sep 4.. [Epub ahead of print]

 

Donze SH, Damen L, Mahabier EF, Hokken-Koelega ACSImproved mental and motor development during 3 years of GH treatment in very young children with Prader-Willi syndrome.

J Clin Endocrinol Metab. 2018 Aug 2.. [Epub ahead of print]

 

McAlister KL, Fisher KL, Dumont-Driscoll MC, Rubin DAThe relationship between metabolic syndrome, cytokines and physical activity in obese youth with and without Prader-Willi syndrome.

J Pediatr Endocrinol Metab. 2018 Jul 5. pii: /j/jpem.ahead-of-print/jpem-2017-0539/jpem-2017-0539.xml.. [Epub ahead of print]

 

Grugni G, Crinò A, De Bellis A, Convertino A, Bocchini S, Maestrini S, Cirillo P, De Lucia S, Delvecchio M, Italian Autoimmune Hypophysitis Network Study and of the Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinologyand Diabetology (ISPED)  Autoimmune pituitary involvement in Prader-Willi syndrome: new perspective for further research.

 Endocrine. 2018 Jul 2. [Epub ahead of print]

 

 

Sensory and physical

 

Hsu WL, Chiu VJ, Chang WH, Lin MC, Wei JT, Tzeng ISHand strength and dexterity in patients with Prader-Willi syndrome: a pilot intervention study.   J Int Med Res. 2018 Sep 13:300060518788243.. [Epub ahead of print]

 

Abel F, Tan HL, Negro V, Bridges N, Carlisle T, Chan E, Laverty A, Miligkos M, Samuels M, Kaditis AGHypoventilation disproportionate to OSAS severity in children with Prader-Willi syndrome.   Arch Dis Child. 2018 Jul 14. pii: archdischild-2017-314282. [Epub ahead of print]

 

Olczak-Kowalczyk D, Korporowicz E, Gozdowski D, Lecka-Ambroziak A, Szalecki MOral findings in children and adolescents with Prader-Willi syndrome.  Clin Oral Investig. 2018 Jul 14. [Epub ahead of print]

 

 

Behaviour

 

Lambert JM, Parikh N, Stankiewicz KC, Houchins-Juarez NJ, Morales VA, Sweeney EM, Milam ME Decreasing Food Stealing of Child with Prader-Willi Syndrome Through Function-Based Differential Reinforcement.   J Autism Dev Disord. 2018 Sep 18.. [Epub ahead of print]

 

Baker EK, Godler DE, Bui M, Hickerton C, Rogers C, Field M, Amor DJ, Bretherton L

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.  J Neurodev Disord. 2018 Aug 6;10(1):24.

 

 

Cognition and mental health

 

Zwiebel S, Rayapati AO, de Leon JCatatonia Following Abrupt Cessation of Oxcarbazepine in a Patient With Prader-Willi Syndrome.  Psychosomatics. 2018 Jul 31. pii: S0033-3182(18)30416-X. [Epub ahead of print]

 

Di Blasi FD, Buono S, Città S, Costanzo AA, Zoccolotti PReading Deficits in Intellectual Disability Are still an Open Question: A Narrative Review.  Brain Sci. 2018 Aug 7;8(8). pii: E146.

PWS publications 1st Apr to 30th  Jun  2018

 

Index  (to download abstracts, click 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 CImpact 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 VComparison 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 JWHyperphagia 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 DJMolecular 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 JMSnord116-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 MKNo 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 WJThe 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 TDelayed 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 ISChanges 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 DJTest-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 HGastro-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 JLCognitive 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 COverview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype.  Front Pediatr. 2018 May 3;6:102.. eCollection 2018.

PWS publications 1 January to 31 March 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

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