PWSA | USA is committed to supporting research. We are pleased to share abstracts and selected papers relating to PWS. Within each document, you will see it is divided into the following categories: General PWS and families, Genetics and brain imaging, Endocrine including Growth Hormone, Sensory and physical, Behavior, Cognition and mental health. This is made possible by Dr. Joyce Whittington, members of the IPWSO Clinical and Scientific Advisory Committee, and volunteers of PWSA | USA.
2023 PWS Articles of Interest
Behavioral services for individuals with Prader–Willi Syndrome: An initial examination of experiences, needs, and wants of caregivers
Kasey E. Bedard, Annette K. Griffith, Mary E. Strittman, Angeline Eaton
Chromosomal Microarray Study in Prader-Willi Syndrome
Merlin G. Butler, Waheeda A. Hossain, Neil Cowen, and Anish Bhatnagar
Prader–Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review
Merlin G. Butler
Clinical Trials in Prader–Willi Syndrome: A Review
Ranim Mahmoud, Virginia Kimonis, and Merlin G. Butler
2022 PWS Articles of Interest
Effects of textual prompting and constant time delay on social communication skills of young adults with Prader Willi syndrome during online socialisation activities
Authors: Luca Vascelli , Federica Berardo , Silvia Iacomini , Maristella Scorza , Francesca Cavallini
The Prader-Willi Syndrome Anxiousness and Distress Behaviors Questionnaire: Development and Psychometric Validation
Authors: Sara P Cotter, Lauren Schwartz , Theresa V Strong , Randall H Bender, Sheri E Fehnel
Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders
Authors: Marta Arpone , Lesley Bretherton , David J Amor, Stephen J C Hearps, Carolyn Rogers, Michael J Field , Matthew F Hunter , Lorena Santa Maria , Angelica M Alliende , Jennie Slee , David E Godler, Emma K Baker
Emerging Verbal Functions in Early Infancy: Lessons from Observational and Computational Approaches on Typical Development and Neurodevelopmental Disorders
Authors: Peter B Marschik , Claudius A A Widmann , Sigrun Lang , Tomas Kulvicius, Sofie Boterberg , Karin NielsenSaines, Sven Bölte , Gianluca Esposito , Anders Nordahl-Hansen , Herbert Roeyers, Florentin Wörgötter, Christa Einspieler, Luise Poustka , Dajie Zhang
Neonatal oxytocin gives the tempo of social and feeding behaviors. Front Mol Neurosci.
Authors: Françoise Muscatelli , Valery Matarazzo , Bice Chini
Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader-Willi syndrome. World J Pediatr.
Authors: Ruo-Qian Cheng , Yan-Qin Ying , ZhengQing Qiu , Jun-Fen Fu , Chun-Xiu Gong , Yan-Ling Yang , Wei Shi , Hui Li , MingSheng Ma , Chang-Yan Wang , Min Liu , JiaJia Chen , Chang Su , Xiao-Ping Luo , FeiHong Luo , Wei Lu
POSITIVE EFFECTS OF KETOGENIC DIET ON WEIGHT CONTROL IN CHILDREN WITH OBESITY DUE TO PRADER-WILLI SYNDROME. Clin Endocrinol (Oxf).
Authors: Pelin Teke Kısa , Orkide Güzel , Nur Arslan , Korcan Demir
Adrenal insufficiency in patients with Prader-Willi syndrome. Front Endocrinol (Lausanne).
Authors: Marcin Jerzy Kusz , Aneta Monika Gawlik
Hoffman's syndrome as the presenting manifestation of non-primary hypothyroidism in a case of Prader-Willi Syndrome. Neurologia (Engl Ed).
Authors: R Ghosh , A Ray , D Roy , J Benito-Leon
Analysis of the hypothalamic oxytocin system and oxytocin receptor-expressing astrocytes in a mouse model of Prader-Willi syndrome. J Neuroendocrinol.
Authors: Ferdinand Althammer , Moritz Claudius Wimmer, Quirin Krabichler, Stephanie Küppers, Jonas Schimmer, Henning Fröhlich , Laura Dötsch , Tim Gruber , Selina Wunsch , Tim Schubert , Matthew K Kirchner, Javier E Stern , Alexandre Charlet , Valery Grinevich , Christian P Schaaf
Liraglutide for Weight Management in Children and Adolescents with Prader-Willi Syndrome and Obesity. J Clin Endocrinol Metab.
Authors: Gwenaëlle Diene , Moris Angulo , Paula M Hale , Cecilie H Jepsen , Paul L Hofman , Anita HokkenKoelega , Chethana Ramesh , Serap Turan , Maïthé Tauber.
Autonomic nervous system dysfunction in Prader-Willi syndrome. Clin Auton Res.
Authors: Merlin G Butler, A Kaitlyn Victor , Lawrence T Reiter
Quality of Life in Children with Prader-Willi Syndrome and the Impact of the Disease on the Functioning of Families
Authors: Anna Rozensztrauch , Robert Śmigiel
The transition from pediatric to adult care in individuals with Prader-Willi syndrome
Authors: Christine Poitou , Anthony Holland , Charlotte Hoybye , Laura C G de Graaff, Sandrine Bottius, Berit Otterlei , Maithe Tauber
Genetic conditions of short stature: A review of three classic examples. Front Endocrinol (Lausanne)
Authors: Merlin G Butler, Bradley S Miller , Alicia Romano , Judith Ross , M Jennifer Abuzzahab , Philippe Backeljauw , Vaneeta Bamba , Amrit Bhangoo , Nelly Mauras, Mitchell Geffner
Reducing global health inequalities for a rare disorder: evaluating the international PraderWilli Syndrome Organisation's Echo® programme. Orphanet J Rare Dis
Authors: Tanzil Rujeedawa , Nora McNairney , Shelly Cordner, James O'Brien , Georgina Loughnan , Anthony Holland
Clinical Profile and Molecular Genetic Analysis of Prader - Willi Syndrome: A Single Center Experience. Indian J Endocrinol Metab.
Authors: Subbiah Sridhar , Roshan Nazirudeen , Suresh Ramasamy , Vasanthiy Natarajan , Kumanan Thiagarajan , Lakshmanan Nivethitha Karthika
Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.
Authors: Jinying Wu, Meifang Lei , Xuetao Wang , Nan Liu , Xiaowei Xu, Chunyu Gu , Yuping Yu , Wei Liu
Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader-Willi syndrome. World J Pediatr.
Authors: Ruo-Qian Cheng , Yan-Qin Ying , ZhengQing Qiu , Jun-Fen Fu , Chun-Xiu Gong , Yan-Ling Yang , Wei Shi , Hui Li , MingSheng Ma , Chang-Yan Wang , Min Liu , JiaJia Chen , Chang Su , Xiao-Ping Luo , FeiHong Luo , Wei Lu
Blended Phenotype of Prader-Willi Syndrome and HSP- SPG11 Caused by Maternal Uniparental Isodisomy. Neurol Genet.
Authors: Avaneesh R Kunta , Jeremy Jueng , Catherine Jordan , Jasna Kojic , Alisa Mo , Darius Ebrahimi-Fakhari
Alteration of brain nuclei in obese children with and without Prader-Willi syndrome. Front Neuroinform.
Authors: Ning Wu , Huan Yu , Mingze Xu
Do the diverse phenotypes of Prader-Willi syndrome reflect extremes of covariation in typical populations? Front Genet.
Authors: Iiro Salminen , Silven Read , Bernard Crespi
Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies. Sci Rep.
Authors: Huili Xue , Aili Yu , Min Lin , Xuemei Chen , Qun Guo , Liangpu Xu , Hailong Huang
Advances in genetic mechanisms of hypothalamic dysfunction in Prader-Willi syndrome. Yi Chuan.
Authors: Xin-Yuan Wang , Rui Sun , Yuan-Qing Gao
Novel lnc RNA Prader-Willi/Angelman region RNA, SNRPN neighbour (PWARSN) aggravates tubular epithelial cell pyroptosis by regulating TXNIP via dual way in diabetic kidney disease. Cell Prolif.
Authors: Yi Song , Feng Guo , Yan-Yan Zhao , XiaoJun Ma , Li-Na Wu , Ji-Feng Yu , Hong-Fei Ji , Ming-Wei Shao , Feng-Juan Huang , Lin Zhao , Xun-Jie Fan , Ya-Nan Xu , Qing-Zhu Wang , Gui-Jun Qin
Next Steps in Prader-Willi Syndrome Research: On the Relationship between Genotype and Phenotype. Int J Mol Sci.
Authors: Joyce Whittington , Anthony Holland
Hypothalamic AAV-BDNF gene therapy improves metabolic function and behavior in the Magel2-null mouse model of Prader-Willi syndrome. Mol Ther Methods Clin Dev.
Authors: Nicholas J Queen , Xunchang Zou , Jacqueline M Anderson , Wei Huang, Bhavya Appana , Suraj Komatineni , Rachel Wevrick , Lei Cao
Prader-Willi syndrome, deletion subtypes, and magnesium: Potential impact on clinical findings. Am J Med Genet A.
Authors: Merlin G Butler, Neil Cowen , Anish Bhatnagar
Periodic leg movements during sleep and iron status in infants with prematurity, Down syndrome and Prader-Willi syndrome. J Sleep Res.
Authors: Lourdes M DelRosso , Jodi Mindell , Oliviero Bruni , Maria P Mogavero , Raffaele Ferri
Progressive resistance training in young people with Prader-Willi syndrome: protocol for a randomised trial (PRESTO).
Authors: Nora Shields, Kim L Bennell , Alesha Southby , Lauren J Rice , Tania Markovic , Christine Bigby , Luke Prendergast , Jennifer J Watts, Cara Schofield , Georgina Loughnan , Janet Franklin , David Levitt , Viral Chikani , Zoe McCallum , Susan Blair , Joseph Proietto , Nicholas F Taylor
Comparison of Body Composition, Muscle Strength and Cardiometabolic Profile in Children with Prader-Willi Syndrome and Non-Alcoholic Fatty Liver Disease: A Pilot Study. Int J Mol Sci.
Authors: Diana R Mager, Krista MacDonald , Reena L Duke , Hayford M Avedzi , Edward C Deehan Jason Yap , Kerry Siminoski , Andrea M Haqq
Premature adrenarche in Prader-Willi syndrome is associated with accelerated prepubertal growth and advanced bone age. J Pediatr Endocrinol Metab.
Authors: Lindsey S Gaston , Diane E Stafford
Correction to "Bone health in adults with Prader-Willi syndrome: clinical recommendations based on a multicenter cohort study"
Authors: J Clin Endocrinol Metab.
Scoliosis and BMI in patients with PraderWilli syndrome. J Pediatr Orthop B.
Authors: Li-Ping Tsai , Shiau-Tzu Tzeng , Tsung-Han Hsieh , Yi-Chen Li , Shuo-Suei Hung
Sleep Disorders in Children with Prader Willi Syndrome: Current Perspectives. Nat Sci Sleep.
Authors: David G Ingram , Jill M Arganbright , Emily Paprocki , Kelsee L Halpin
Facile discovery of red blood cell deformation and compromised membrane/skeleton assembly in Prader-Willi syndrome. Front Med.
Authors: Yashuang Yang , Guimei Li , Yanzhou Wang , Yan Sun , Chao Xu , Zhen Wei , Shuping Zhang , Ling Gao, Sijin Liu , Jiajun Zhao
Endoscopic Management of Unusual Bezoar in a Prader-Willi Syndrome Patient. Cureus.
Authors: Ayah Awawda , Hazem Al Ashhab , Isam Shammas, Mohammad Al Mohtasib , Yousef Abu Asbeh
Acute Respiratory Distress in a Pediatric Patient With Prader-Willi and Moebius Syndromes. Cureus.
Authors: Jamie Thomas, Taylor Butts, Jason Burtch , Natalie F Smith , Pooja Kethireddy , Jenny Gutwein , Cristina Figallo-Cuenca
2021 PWS Articles of Interest
Understanding the psycho-social context for a new early intervention for resistance to change that aims to strike a beneficial balance between structure and flexibility
Authors: Siobhan Blackwell , Alex Zylberberg , Gaia Scerif , Sarah Miller , Kate A Woodcock
Effects of COVID-19 Lockdown on Weight, Body Composition, and Behavior of Children, Adolescents, and Young Adults with PraderWilli Syndrome
Authors: Andrea Karoline Mohr , Constanze Laemmer, Sandra Schulte , Bettina Gohlke
An adapted scale to evaluate insight in Prader-Willi Syndrome
Authors: Jesus Cobo , Ramón Coronas, Esther Pousa , Joan-Carles Oliva , Olga Giménez-Palop , Assumpta Caixàs
Suicidality and Self-Harming Behaviors in Patients with Prader-Willi Syndrome (PWS): Case Report and Literature Review
Authors: Val Bellman , Zargham Abbass, Ramsa Sohail , Syed Jafri
Metagenome-Scale Metabolic Network Suggests Folate Produced by Bifidobacterium longum Might Contribute to High-Fiber-DietInduced Weight Loss in a Prader-Willi Syndrome Child
Authors: Baoyu Xiang , Liping Zhao , Menghui Zhang
Hypogonadism in Women with Prader-Willi Syndrome-Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
Authors: Karlijn Pellikaan, Yassine Ben Brahim, Anna G W Rosenberg, Kirsten Davidse, Christine Poitou, Muriel Coupaye, Anthony P Goldstone, Charlotte Høybye, Tania P Markovic, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Talia Eldar-Geva, Harry J Hirsch, Varda GrossTsur, Merlin G Butler, Jennifer L Miller, Paul-Hugo M van der Kuy, Sjoerd A A van den Berg, Jenny A Visser, Aart J van der Lely, Laura C G de Graaff
Parameters of Glucose Homeostasis in the Recognition of the Metabolic Syndrome in Young Adults with Prader-Willi Syndrome
Authors: Graziano Grugni , Antonio Fanolla , Fiorenzo Lupi , Silvia Longhi , Antonella Saezza , Alessandro Sartorio , Giorgio Radetti
Diabetes Mellitus in Prader-Willi Syndrome: Natural History during the Transition from Childhood to Adulthood in a Cohort of 39 Patients
Authors: Alice Clerc , Muriel Coupaye , Héléna Mosbah , Graziella Pinto , Virginie Laurier, Fabien Mourre , Christine Merrien , Gwenaëlle Diene , Christine Poitou , Maithé Tauber
Psychiatric behavioral effect and characteristics of type 2 diabetes mellitus on Japanese patients with Prader-Willi syndrome: a preliminary retrospective study
Authors: Yuji Oto , Nobuyuki Murakami , Takeshi Inoue , Keiko Matsubara , Sohei Saima , Hiroyuki Ogata , Hiroshi Ihara , Toshiro Nagai , Tomoyo Matsubara
Hunger and Satiety Peptides: Is There a Pattern to Classify Patients with Prader-Willi Syndrome?
Authors: Marta Bueno , Ester Boixadera-Planas, Laura Blanco-Hinojo , Susanna Esteba-Castillo , Olga Giménez-Palop , David Torrents-Rodas, Jesús Pujol , Raquel Corripio , Joan Deus, Assumpta Caixàs
Circulating insulin-like growth factor 1 levels are reduced in very young children with Prader-Willi syndrome independent of anthropometric parameters and nutritional status
Authors: Mikiko Koizumi, Ayako Konishi , Yuri Etani , Shinobu Ida , Masanobu Kawai
Hypogonadism in Adult Males with PraderWilli Syndrome-Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
Authors: Karlijn Pellikaan , Yassine Ben Brahim , Anna G W Rosenberg , Kirsten Davidse, Christine Poitou , Muriel Coupaye , Anthony P Goldstone , Charlotte Høybye , Tania P Markovic , Graziano Grugni , Antonino Crinò , Assumpta Caixàs, Talia Eldar-Geva , Harry J Hirsch, Varda GrossTsur , Merlin G Butler, Jennifer L Miller , Sjoerd A A van den Berg , Aart J van der Lely , Laura C G de Graaff
Approach to the patient: Safety of Growth Hormone Replacement in Children and Adolescents
Authors: Vaneeta Bamba , Roopa Kanakatti Shankar
Management of Short Stature: Use of Growth Hormone in GH-Deficient and non-GH Deficient Conditions
Authors: Varuna Vyas, Ram K Menon
Transcutaneous auricular vagus nerve stimulators: a review of past, present and future devices
Authors: Lei Wang , Yu Wang , Yifei Wang , Fang Wang , Jinling Zhang , Shaoyuan Li , Mozheng Wu , Liang Li , Peijing Rong
'The cure for us is a lot of things': How young people with Prader-Willi syndrome view themselves and future clinical trials
Authors: Elisabeth M Dykens , Elizabeth Roof , Hailee Hunt-Hawkins
Targeting the Gut Microbiome in Prader-Willi Syndrome
Authors: Marta Ramon-Krauel , Montse Amat-Bou , Mercedes Serrano , Antonio F MartinezMonseny , Carles Lerin
A Quality Improvement Project to Implement Choking Prevention and First Aid Education in Prader-Willi Syndrome Caregivers
Authors: Kathryn S Obrynba , Kathryn Anglin , Amy Moffett , Tracie Steinke , Manmohan K Kamboj
The impact of age and genetics on naltrexone biotransformation
Authors: Stephani L Stancil , Whitney Nolte , Robin E Pearce , Vincent S Staggs PhD , J Steven Leeder
Cardiac rhabdomyoma as a possible new prenatal sonographic feature of Prader-Willi syndrome
Authors: Kuntharee Traisrisilp , Panarat Sirikunalai , Sirinart Sirilert , Takol Chareonsirisuthigul , Theera Tongsong
Anti-Obesity Medication Use in Children and Adolescents with Prader-Willi Syndrome: Case Review and Literature Search
Authors: Victoria E Goldman , Monica N Naguib , Alaina P Vidmar
Phylogenetic and Molecular Analyses Identify SNORD116 Targets Involved in the Prader-Willi Syndrome
Authors: Laeya Baldini , Anne Robert , Bruno Charpentier , Stéphane Labialle
Deficiency of the paternally inherited gene Magel2 alters the development of separation-induced vocalization and maternal behavior in mice
Authors: Gabriela M Bosque Ortiz , Gustavo M Santana , Marcelo O Dietrich
Hypomethylation of monoamine oxidase A promoter/exon 1 region is associated with temper outbursts in Prader-Willi syndrome
Authors: Maximilian Deest , Vanessa Buchholz , Kirsten Jahn , Christian Eberlein , Stefan Bleich , Helge Frieling
The current and future applications of in situ hybridization technologies in anatomical pathology
Authors: Hoi Yi Leung , Martin Ho Yin Yeung , Wai Tung Leung , King Hin Wong , Wai Yan Tang , William Chi Shing Cho , Heong Ting Wong , Hin Fung Tsang , Yin Kwan Evelyn Wong , Xiao Meng Pei , Hennie Yuk Lin Cheng , Amanda Kit Ching Chan , Sze Chuen Cesar Wong
Molecular Changes in Prader-Willi Syndrome Neurons Reveals Clues About Increased Autism Susceptibility
Authors: A Kaitlyn Victor , Martin Donaldson , Daniel Johnson , Winston Miller, Lawrence T Reiter
Food-Related Brain Activation Measured by fMRI in Adults with Prader-Willi Syndrome
Authors: Ingrid Caroline van Nieuwpoort , Tessa N A Slagboom , Sigridur Jakobsdóttir , Jan Berend Deijen , Dick J Veltman , Leopold M G Curfs, Madeleine L Drent
The Role of Long Non-coding RNAs in Human Imprinting Disorders: Prospective Therapeutic Targets
Authors: Tingxuan Wang , Jianjian Li , Liuyi Yang , Manyin Wu , Qing Ma
Arcuate Nucleus Overexpression of NHLH2 Reduces Body Mass and Attenuates Obesity Associated Anxiety/Depression-like Behavior
Authors: Rodrigo S Carraro , Guilherme A Nogueira , Davi Sidarta-Oliveira , Rodrigo S Gaspar , Nathalia R Dragano , Joseane Morari , Vanessa C D Bobbo , Eliana P Araujo , Natalia F Mendes, Ariane M Zanesco , Natalia Tobar, Celso D Ramos, Jéssica M Toscaro , Marcio C Bajgelman , Licio A Velloso
A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study
Authors: Natalya A Lemskaya , Svetlana A Romanenko , Mariia A Rezakova , Elena A Filimonova , Dmitry Yu Prokopov , Alexander A Dolskiy , Polina L Perelman , Yulia V Maksimova , Asia R Shorina , Dmitry V Yudkin
Respiratory failure after scoliosis correction surgery in patients with Prader-Willi syndrome: Two case reports
Authors: Ju-Yul Yoon , Sung-Hee Park , Yu Hui Won
Sleep-disordered breathing in school-aged children with Prader-Willi Syndrome
Authors: Jennifer Schaefer , Margot J Davey , Gillian M Nixon
N-Acetylcysteine provides limited efficacy as treatment option for skin picking in Prader-Willi syndrome
Authors: Jelte Wieting , Maximilian Deest , Stefan Bleich , Helge Frieling , Christian Eberlein
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality
Authors: S A Bellis, I Kuhn , S Adams, L Mullarkey , A Holland
Subtle Cardiovascular Abnormalities in Prader-Willi Syndrome Might Begin in Young Adulthood
Authors: Sayuki Kobayashi , Nobuyuki Murakami , Yuji Oto , Hiroyuki Toide , Noriko Kimura , Akiko Hayashi , Ayako Higashi , Syu Inami , Jun Tanaka , Yuri Koshikawa , Yukiko Mizutani , Shiro Nakahara , Tetsuya Ishikawa, Yoshihiko Sakai , Isao Taguchi
Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndrome
Authors: Min-Sun Kim , Jiyeon Kim, Joongbum Cho , Sung Yoon Cho , Dong-Kyu Jin
Jennifer Bolander has been serving as a Special Education Specialist for PWSA (USA) since October of 2015. She is a graduate of John Carroll University and lives in Ohio with her husband Brad and daughters Kate (17), and Sophia (13) who was born with PWS.
Perry A. Zirkel has written more than 1,500 publications on various aspects of school law, with an emphasis on legal issues in special education. He writes a regular column for NAESP’s Principal magazine and NASP’s Communiqué newsletter, and he did so previously for Phi Delta Kappan and Teaching Exceptional Children.
Evan has worked with the Prader-Willi Syndrome Association (USA) since 2007 primarily as a Crisis Intervention and Family Support Counselor. Evans works with parents and schools to foster strong collaborative relationships and appropriate educational environments for students with PWS.
Dr. Amy McTighe is the PWS Program Manager and Inpatient Teacher at the Center for Prader-Willi Syndrome at the Children’s Institute of Pittsburgh. She graduated from Duquesne University receiving her Bachelor’s and Master’s degree in Education with a focus on elementary education, special education, and language arts.
Staci Zimmerman works for Prader-Willi Syndrome Association of Colorado as an Individualized Education Program (IEP) consultant. Staci collaborates with the PWS multi-disciplinary clinic at the Children’s Hospital in Denver supporting families and school districts around the United States with their child’s Individual Educational Plan.
Founded in 2001, SDLC is a non-profit legal services organization dedicated to protecting and advancing the legal rights of people with disabilities throughout the South. It partners with the Southern Poverty Law Center, Protection and Advocacy (P&A) programs, Legal Services Corporations (LSC) and disability organizations on major, systemic disability rights issues involving the Individuals with Disabilities Education Act (IDEA), Americans with Disabilities Act (ADA), and the federal Medicaid Act. Recently in November 2014, Jim retired.