pws publications oct to dec 2020 pws papers of interest · bmc endocr disord . 2020 nov...

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PWS publications Oct to Dec 2020 PWS PAPERS OF INTEREST Listed below along with their abstracts are selected papers on PWS newly appearing in PubMed between 1 st October and end of December 2020 in peer reviewed academic journals. All papers are initially listed without their summaries to give a quick overview, then for most of the papers the summaries are included later in the document. They are divided into specific categories: General PWS and families; Genetics, and brain imaging; Endocrine including GH; Sensory and physical; Behaviour; Cognition and mental health. Open access is indicated next to the link. This list has been compiled by Joyce Whittington and by members of the IPWSO Scientific Advisory Committee. If there are papers that you think should have been included please let Joyce Whittington know ([email protected] tel. +44 (0)1223 465266)

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  • PWS publications Oct to Dec 2020

    PWS PAPERS OF INTEREST

    Listed below along with their abstracts are selected papers on PWS newly appearing in PubMed between 1st October and end of December 2020 in peer reviewed academic journals. All papers are initially listed without their summaries to give a quick overview, then for most of the papers the summaries are included later in the document. They are divided into specific categories: General PWS and families; Genetics, and brain imaging; Endocrine including GH; Sensory and physical; Behaviour; Cognition and mental health. Open access is indicated next to the link. This list has been compiled by Joyce Whittington and by members of the IPWSO Scientific Advisory Committee. If there are papers that you think should have been included please let Joyce Whittington know ([email protected] tel. +44 (0)1223 465266)

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  • PWS publications 1st Oct to 31st Dec 2020 Index General PWS and families Christina Meade , Ruth Martin , Ann McCrann , Jacqueline Lyons , Judith Meehan , Hilary Hoey , Edna Roche. Prader Willi Syndrome in Children: Quality of Life and Caregiver Burden. Acta Paediatr. 2020 Dec 30.Online ahead of print. Enora Le Roux , Florence Menesguen , Isabelle Tejedor , Marc Popelier , Marine Halbron , Pauline Faucher , Sabine Malivoir , Graziella Pinto, Juliane Leger , Stephane Hatem, Michel Polak , Christine Poitou , Philippe Touraine . Transition of young adults with endocrine and metabolic diseases: the TRANSEND cohort. Endocr Connect. 2020 Dec 1;EC-20-0520.Online ahead of print. Felix Marbach , Magdeldin Elgizouli , Megan Rech , Jasmin Beygo , Florian Erger , Clara Velmans , Constance T R M Stumpel , Alexander P A Stegmann , Stefanie Beck-Wödl , Gabriele Gillessen-Kaesbach , Bernhard Horsthemke , Christian P Schaaf , Alma Kuechler. The adult phenotype of Schaaf-Yang syndrome. Orphanet J Rare Dis . 2020 Oct 19;15(1):294. Shi-Bing Wong , Tzong-Shi Wang , Wen-Hsin Tsai , I-Sheng Tzeng , Li-Ping Tsai . Parenting stress in families of children with Prader-Willi syndrome. Am J Med Genet A . 2020 Oct 12. Online ahead of print. Genetics and brain imaging Lotte Hatt , Ripudaman Singh , Rikke Christensen , Katarina Ravn , Inga B Christensen1, Line Dahl Jeppesen , Bolette Hestbek Nicolaisen , Mathias Kølvraa , Palle Schelde , Lotte Andreassen , Richard Farlie , Niels Uldbjerg , Ida Vogel . Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations. Clin Case Rep. 2020 Aug 9;8(12):2561-2567.. eCollection 2020 Dec. [Cytogenetic and molecular analysis of a case of Prader-Willi syndrome] [Article in Chinese]. Zhonghua Nan Ke Xue. 2020 Feb;26(2):154-159. Xiaoyi Yu, Yingzi Luo , Gangyi Chen , Hong Liu , Ni Tian , Xiaoting Zen , Yuting Huang. Long non-coding RNA PWRN2 regulates cytotoxicity in an in vitro model of age-related macular degeneration. Biochem Biophys Res Commun. 2020 Dec 16;535:39-46.. Online ahead of print. Janice Forster , Jessica Duis , Merlin G Butler . Pharmacodynamic Gene Testing in Prader-Willi Syndrome. Front Genet. 2020 Nov 20;11:579609.. eCollection 2020. Mariam Markouli , Dimitrios Strepkos , Sarantis Chlamydas , Christina Piperi . Histone lysine methyltransferase SETDB1 as a novel target for central nervous system diseases. Prog Neurobiol. 2020 Dec 3;101968.. Online ahead of print. Merlin G Butler. Imprinting disorders in humans: a review. Curr Opin Pediatr . 2020 Dec;32(6):719-729.

    https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Meade+C&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Martin+R&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=McCrann+A&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Lyons+J&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Meehan+J&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Hoey+H&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Hoey+H&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Roche+E&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/33378107/https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Le+Roux+E&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Menesguen+F&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Tejedor+I&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Popelier+M&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Halbron+M&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Faucher+P&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Faucher+P&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Malivoir+S&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Pinto+G&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Leger+J&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Hatem+S&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Polak+M&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Poitou+C&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Poitou+C&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Touraine+P&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/33263561/https://pubmed.ncbi.nlm.nih.gov/33263561/https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Marbach+F&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-1https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Elgizouli+M&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Rech+M&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-4https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Beygo+J&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Erger+F&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Velmans+C&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Velmans+C&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Stumpel+CTRM&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-7https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Stegmann+APA&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-7https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Beck-W%C3%B6dl+S&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-8https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Gillessen-Kaesbach+G&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Gillessen-Kaesbach+G&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-9https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Horsthemke+B&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Schaaf+CP&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Kuechler+A&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Wong+SB&cauthor_id=33043996https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Wang+TS&cauthor_id=33043996https://pubmed.ncbi.nlm.nih.gov/?term=33046090%2C33043996&format=abstract&sort=date&size=50#search-result-1-2-affiliation-3https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Tsai+WH&cauthor_id=33043996https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Tzeng+IS&cauthor_id=33043996https://pubmed.ncbi.nlm.nih.gov/?term=33046090%2C33043996&format=abstract&sort=date&size=50#search-result-1-2-affiliation-4https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Tsai+LP&cauthor_id=33043996https://pubmed.ncbi.nlm.nih.gov/33043996/https://pubmed.ncbi.nlm.nih.gov/33043996/https://pubmed.ncbi.nlm.nih.gov/33043996/https://pubmed.ncbi.nlm.nih.gov/33043996/https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Hatt+L&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Singh+R&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Christensen+R&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Ravn+K&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Christensen+IB&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/33363780/#affiliation-1https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Jeppesen+LD&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Jeppesen+LD&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Nicolaisen+BH&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=K%C3%B8lvraa+M&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Schelde+P&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Andreassen+L&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Andreassen+L&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Farlie+R&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Uldbjerg+N&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Vogel+I&cauthor_id=33363780https://pubmed.ncbi.nlm.nih.gov/33346420/https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Yu+X&cauthor_id=33340764https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Luo+Y&cauthor_id=33340764https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Chen+G&cauthor_id=33340764https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Liu+H&cauthor_id=33340764https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Tian+N&cauthor_id=33340764https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Zen+X&cauthor_id=33340764https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Huang+Y&cauthor_id=33340764https://pubmed.ncbi.nlm.nih.gov/33340764/https://pubmed.ncbi.nlm.nih.gov/33340764/https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Forster+J&cauthor_id=33329716https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Duis+J&cauthor_id=33329716https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Butler+MG&cauthor_id=33329716https://pubmed.ncbi.nlm.nih.gov/33329716/https://pubmed.ncbi.nlm.nih.gov/33329716/https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Markouli+M&cauthor_id=33279625https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Strepkos+D&cauthor_id=33279625https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Chlamydas+S&cauthor_id=33279625https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Piperi+C&cauthor_id=33279625https://pubmed.ncbi.nlm.nih.gov/33279625/https://pubmed.ncbi.nlm.nih.gov/33279625/https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Butler+MG&cauthor_id=33148967https://pubmed.ncbi.nlm.nih.gov/?term=33167936%2C33148967%2C33136658%2C33131656%2C33122491%2C33116122%2C33114160%2C33107433%2C33104445%2C33103385%2C33095904%2C33092629%2C33082508%2C33076953%2C33067796%2C33066107&format=abstract&sort=date&size=50#search-result-1-2-affiliation-1

  • Emma K Baker, Merlin G Butler, Samantha N Hartin, Ling Ling, Minh Bui, David Francis, Carolyn Rogers, Michael J Field, Jennie Slee, Dinusha Gamage, David J Amor, David E Godler. Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders. Transl Psychiatry . 2020 Oct 29;10(1):362. Kaori Hara-Isono , Keiko Matsubara, Tomoko Fuke, Kazuki Yamazawa, Kazuhito Satou, Nobuyuki Murakami , Shinji Saitoh, Kazuhiko Nakabayashi, Kenichiro Hata, Tsutomu Ogata, Maki Fukami, Masayo Kagami . Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome. Clin Epigenetics . 2020 Oct 22;12(1):159. Jade Hebras , Virginie Marty , Jean Personnaz , Pascale Mercier , Nicolai Krogh , Henrik Nielsen , Marion Aguirrebengoa , Hervé Seitz , Jean-Phillipe Pradere , Bruno P Guiard , Jérôme Cavaille. Re-assessment of the involvement of Snord115 in the serotonin 2C receptor pathway in a genetically relevant mouse model. Elife . 2020 Oct 5;9:e60862. . Online ahead of print. Caroline C Azevedo , Alisson Paulino Trevizol , July S Gomes , Henrique Akiba , Ruth R Franco , Paula B Simurro , Renata M Ianni , Ruth B Grigolon , Daniel M Blumberger , Alvaro M Dias. Transcranial Direct Current Stimulation for Prader-Willi Syndrome. J ECT . 2020 Oct 1. Online ahead of print. Endocrine including GH L Damen , L N Grootjen , A F Juriaans , S H Donze , T M Huisman , J A Visser , P J D Delhanty , A C S Hokken-Koelega . Oxytocin in young children with Prader-Willi syndrome: Results of a randomized, double-blind, placebo-controlled, crossover trial investigating 3 months of oxytocin. Clin Endocrinol (Oxf). 2020 Dec 9.Online ahead of print. Mikaela Frixou , Diane Vlek , Angela K Lucas-Herald , Lindsay Keir , Andreas Kyriakou , M Guftar Shaikh. The use of growth hormone therapy in adults with Prader-Willi syndrome: A systematic review. Clin Endocrinol (Oxf).. 2020 Dec 9.Online ahead of print. Moris Angulo M Jennifer Abuzzahab , Alberto Pietropoli , Vlady Ostrow , Nicky Kelepouris , Maithe Tauber . Outcomes in children treated with growth hormone for Prader-Willi syndrome: data from the ANSWER Program® and NordiNet® International Outcome Study. Int J Pediatr Endocrinol 2020 Nov 10;2020(1):20 Yuki Tomoda , Yukiyoshi Okauchi , Arichika Deguchi , Yu Takenoshita , Hiromi Iwahashi , Ikuo Mineo. A Case of Prader-Willi Syndrome with Slowly Progressive Insulin-dependent Diabetes Mellitus. Intern Med. 2020 Nov 30.Online ahead of print. Maria Nunez-Salces , Hui Li , Christine Feinle-Bisset , Richard L Young , Amanda J Page. The regulation of gastric ghrelin secretion. Acta Physiol (Oxf). 2020 Nov 28;e13588.Online ahead of print. Yunyun Luo , Zhoude Zheng , Yingying Yang1, Xi Bai , Hongbo Yang , Huijuan Zhu , Hui Pan , Shi Chen. Effects of growth hormone on cognitive, motor, and behavioral development in Prader-Willi syndrome children: a meta-analysis of randomized controlled trials. Endocrine. 2020 Nov 22. Online ahead of print Giorgio Bedogni , Graziano Grugni , Sabrina Cicolini , Diana Caroli, Sofia Tamini , Alessandro Sartorio . Changes of Body Weight and Body Composition in Obese Patients with Prader-Willi

    https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Baker+EK&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Butler+MG&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Hartin+SN&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Ling+L&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Bui+M&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Francis+D&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Rogers+C&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Rogers+C&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Field+MJ&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Slee+J&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Gamage+D&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Amor+DJ&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Godler+DE&cauthor_id=33116122https://pubmed.ncbi.nlm.nih.gov/33116122/https://pubmed.ncbi.nlm.nih.gov/33116122/https://pubmed.ncbi.nlm.nih.gov/33116122/https://pubmed.ncbi.nlm.nih.gov/33116122/https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Hara-Isono+K&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Matsubara+K&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Fuke+T&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Yamazawa+K&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Satou+K&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Murakami+N&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Murakami+N&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?term=33167936%2C33148967%2C33136658%2C33131656%2C33122491%2C33116122%2C33114160%2C33107433%2C33104445%2C33103385%2C33095904%2C33092629%2C33082508%2C33076953%2C33067796%2C33066107&format=abstract&sort=date&size=50#search-result-1-12-affiliation-5https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Saitoh+S&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Nakabayashi+K&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Hata+K&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Ogata+T&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Fukami+M&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Fukami+M&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Kagami+M&cauthor_id=33092629https://pubmed.ncbi.nlm.nih.gov/33092629/https://pubmed.ncbi.nlm.nih.gov/33092629/https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Hebras+J&cauthor_id=33016258https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-2-affiliation-1https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Marty+V&cauthor_id=33016258https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-2-affiliation-1https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Personnaz+J&cauthor_id=33016258https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-2-affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Mercier+P&cauthor_id=33016258https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-2-affiliation-3https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Krogh+N&cauthor_id=33016258https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-2-affiliation-4https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Nielsen+H&cauthor_id=33016258https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Nielsen+H&cauthor_id=33016258https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Aguirrebengoa+M&cauthor_id=33016258https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-2-affiliation-5https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Seitz+H&cauthor_id=33016258https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-2-affiliation-6https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Pradere+JP&cauthor_id=33016258https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-2-affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Guiard+BP&cauthor_id=33016258https://pubmed.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  • Xuejun Kong , Junli Zhu , Ruiyi Tian , Siyu Liu , Hannah T Sherman , Xiaoying Zhang , Xiaojing Lin , Yan Han , Zhi Xiang , Madelyn Koh , Clara Hobbie , Bryan Wang , Kevin Liu , Jun Liu , Yueping Yin , Guobin Wan . Early Screening and Risk Factors of Autism Spectrum Disorder in a Large Cohort of Chinese Patients With Prader-Willi Syndrome. Front Psychiatry. 2020 Nov 26;11:594934.. eCollection 2020. Anastasia Dimitropoulos , Olena Zyga, Ellen Doernberg , Sandra W Russ. Show me what happens next: Preliminary efficacy of a remote play-based intervention for children with Prader-Willi syndrome. Res Dev Disabil. 2020 Dec 8;108:103820.. Online ahead of print. Juliette Salles, Emmanuelle Lacassagne, ,Sanaa Eddiry, Nicolas Franchitto, Jean-Pierre Salles, Maithé Tauber. What can we learn from PWS and SNORD116 genes about the pathophysiology of addictive disorders? Mol Psychiatry . 2020 Oct 20. Online ahead of print. Pierre-Henri Roux-Levy , Marie Bournez , Alice Masurel , Nolwenn Jean , Sophie Chancenotte , Mathieu Bordes , Frédérique Debomy , Delphine Minot , Emilie Schmitt , Sandrine Vinault , Elodie Gautier , Didier Lacombe , Sylvie Odent , Myriam Mikaty , Sylvie Manouvrier , Jamal Ghoumid , David Geneviève , Natacha Lehman , Nicole Philip , Patrick Edery , Jenny Cornaton , Jennifer Gallard , Delphine Héron , Coralie Rastel , Frédéric Huet , Christel Thauvin-Robinet , Alain Verloes , Christine Binquet , Maïté Tauber , Catherine Lejeune , Laurence Faivre . Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome . Eur J Med Genet . 2020 Sep 27;104064. Online ahead of print.

    https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Kong+X&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Zhu+J&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Tian+R&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Liu+S&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Sherman+HT&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Zhang+X&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Lin+X&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Lin+X&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Han+Y&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Xiang+Z&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Koh+M&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Hobbie+C&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Wang+B&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Liu+K&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Liu+J&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Yin+Y&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Yin+Y&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Wan+G&cauthor_id=33329146https://pubmed.ncbi.nlm.nih.gov/33329146/https://pubmed.ncbi.nlm.nih.gov/33329146/https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Dimitropoulos+A&cauthor_id=33307337https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Zyga+O&cauthor_id=33307337https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Doernberg+E&cauthor_id=33307337https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Russ+SW&cauthor_id=33307337https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Salles+J&cauthor_id=33082508https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Lacassagne+E&cauthor_id=33082508https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Eddiry+S&cauthor_id=33082508https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Franchitto+N&cauthor_id=33082508https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Salles+JP&cauthor_id=33082508https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Tauber+M&cauthor_id=33082508https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Tauber+M&cauthor_id=33082508https://pubmed.ncbi.nlm.nih.gov/33082508/https://pubmed.ncbi.nlm.nih.gov/33082508/https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Roux-Levy+PH&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-1https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Bournez+M&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Masurel+A&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Jean+N&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Chancenotte+S&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Chancenotte+S&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Bordes+M&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-3https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Debomy+F&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Minot+D&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Schmitt+E&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Vinault+S&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Vinault+S&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-4https://pubmed.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8064https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-4https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Faivre+L&cauthor_id=32998064https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-15https://pubmed.ncbi.nlm.nih.gov/?term=33026674%2C33016258%2C33009217%2C33006215%2C32998064&format=abstract&sort=date&size=50#search-result-1-5-affiliation-15

  • Abstracts General PWS and families Christina Meade , Ruth Martin , Ann McCrann , Jacqueline Lyons , Judith Meehan , Hilary Hoey , Edna Roche. Prader Willi Syndrome in Children: Quality of Life and Caregiver Burden. Acta Paediatr. 2020 Dec 30.Online ahead of print. Abstract Aim: To evaluate quality of life and caregiver burden in children with Prader Willi syndrome. Methods: All children with Prader Willi syndrome, attending a tertiary referral centre were invited to participate (n=44). Quality of life was evaluated using the PedsQL questionnaire. Family Impact modules and Parent Proxy Reports evaluated the impact on the quality of life of the child and family. Additional challenges were captured using a burden questionnaire. Results: Nineteen children participated. Median age was 7.9 years (0.6 - 18.1years). Majority were female (n=14, 74%). Median age at diagnosis was 2.5 weeks (range birth - 2 years 8 months). Growth hormone treatment was in place for the majority (n=14, 74%). Increased weight and age were identified as significantly impacting on family functioning and relationships. Parents perceived increased weight and age to have a significant negative impact on their child's psychosocial health and social functioning. Caregivers of children >12 years reported an increased burden of care. Disruption to routines, restriction of social activities and psychological difficulties were reported as increasing caregiver burden. Conclusion: Prader Willi syndrome impacts significantly on quality of life for both the affected child and the family. PMID: 33378107 DOI: 10.1111/apa.15738

    Enora Le Roux , Florence Menesguen , Isabelle Tejedor , Marc Popelier , Marine Halbron , Pauline Faucher , Sabine Malivoir , Graziella Pinto, Juliane Leger , Stephane Hatem, Michel Polak , Christine Poitou , Philippe Touraine . Transition of young adults with endocrine and metabolic diseases: the TRANSEND cohort. Endocr Connect. 2020 Dec 1;EC-20-0520.Online ahead of print. Abstract Objective: The transition period between paediatric and adult medicine is associated with poor patient outcomes and important numbers of patients lost to follow up. Describe the cohort of patients in adult care who benefit from a new transition program based on case management approach. Design: A longitudinal study was led since September 2016 in a French University Hospital. Methods: Patients with any endocrine or metabolic disease diagnosed during childhood and transferred to adult care were included. The transition program includes 3 steps based on case management: liaising with paediatric services, personalising care pathways, liaising with structures outside hospital (General practitioner, educational and social sector). Results: The cohort included 500 patients with malignant brain tumour (n=56 (11%)), obesity (n=55 (11%)), type 1 diabetes (n=54 (11%)), or other disease (n=335 (67%)). They were aged 19 in median at transfer, sex ratio: 0.5. At 21 months of follow-up in median, 439 (88%) have regular follow-up in or outside the hospital, 47 (9%) have irregular follow-up (absence at the last appointment or no appointment scheduled within the time recommended), 4 stopped care on the doctor's advice, 4 died, 3 moved, 3 refused care. The program involved 9,615 case management acts, 7% of patients required more than 50 acts. Patients who required most of support are usually affected by a neuro-cognitive disorder and have social issues. Conclusions: The case manager addresses the complex needs of patients. With time, the cohort will provide unprecedented long-term results of patients with various conditions who went through transition.

    https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Meade+C&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Martin+R&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=McCrann+A&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Lyons+J&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Meehan+J&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Hoey+H&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Hoey+H&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Roche+E&cauthor_id=33378107https://pubmed.ncbi.nlm.nih.gov/33378107/https://doi.org/10.1111/apa.15738https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Le+Roux+E&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Menesguen+F&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Tejedor+I&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Popelier+M&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Halbron+M&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Faucher+P&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Faucher+P&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Malivoir+S&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Pinto+G&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Leger+J&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Hatem+S&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Polak+M&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Poitou+C&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Poitou+C&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/?sort=date&term=Touraine+P&cauthor_id=33263561https://pubmed.ncbi.nlm.nih.gov/33263561/https://pubmed.ncbi.nlm.nih.gov/33263561/

  • PMID: 33263561 DOI: 10.1530/EC-20-0520 Felix Marbach , Magdeldin Elgizouli , Megan Rech , Jasmin Beygo , Florian Erger , Clara Velmans , Constance T R M Stumpel , Alexander P A Stegmann , Stefanie Beck-Wödl , Gabriele Gillessen-Kaesbach , Bernhard Horsthemke , Christian P Schaaf , Alma Kuechler. The adult phenotype of Schaaf-Yang syndrome. Orphanet J Rare Dis . 2020 Oct 19;15(1):294. Abstract Background: MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in the imprinted region on 15q11.2q13. The phenotype of SHFYNG in childhood partially overlaps with that of the well-established Prader-Willi syndrome (PWS, OMIM #176270). While larger numbers of younger individuals with SHFYNG have been recently published, the phenotype in adulthood is not well established. We recruited 7 adult individuals (aged 18 to 36) with molecularly confirmed SHFYNG and collected data regarding the clinical profile including eating habits, sleep, behavior, personal autonomy, psychiatric abnormalities and other medical conditions, as well as information about the respective phenotypes in childhood. Results: Within our small cohort, we identified a range of common features, such as disturbed sleep, hypoactivity, social withdrawal and anxiety, but also noted considerable differences at the level of personal autonomy and skills. Behavioral problems were frequent, and a majority of individuals displayed weight gain and food-seeking behavior, along with mild intellectual disability or borderline intellectual function. Classical symptoms of SHFYNG in childhood were reported for most individuals. Conclusion: Our findings indicate a high variability of the functional abilities and social participation of adults with SHFYNG. A high prevalence of obesity within our cohort was notable, and uncontrollable food intake was a major concern for some caregivers. The phenotypes of PWS and SHFYNG in adulthood might be more difficult to discern than the phenotypes in childhood. Molecular genetic testing for SHFYNG should therefore be considered in adults with the suspected diagnosis of PWS, if testing for PWS has been negative. Keywords: Adult phenotype; MAGEL2; Prader–Willi syndrome; Schaaf-Yang syndrome. PMID: 33076953 DOI: 10.1186/s13023-020-01557-8 Shi-Bing Wong , Tzong-Shi Wang , Wen-Hsin Tsai , I-Sheng Tzeng , Li-Ping Tsai . Parenting stress in families of children with Prader-Willi syndrome. Am J Med Genet A . 2020 Oct 12. Online ahead of print. Abstract Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by multiple endocrine, metabolic, respiratory, cognitive, and behavioral/psychiatric symptoms that may lead to severe emotional strain in their caregivers. In this study, we evaluated parenting stress by the Parenting Stress Index-short form (PSI/SF) and parent-reported behavioral symptoms by the Child Behavior Checklist (CBCL/6-18) in families of children with PWS. Sixty-seven home-resident PWS patients and their families were recruited in this study. The patients' mean age was 14.9 ± 8.3 years, and 33 (50.8%) were male. High parenting stress was reported by 41.5% families, as determined by high total stress scores of PSI/SF. The patients in high stress families were significantly older than those in low stress families (18.2 ± 8.0 vs. 12.6 ± 7.8 years, p = .007). CBCL/6-18 was used to evaluate the somatic and neuropsychiatric symptoms of PWS patients aged between 6 and 18 in the subgroup of the 35 families. In this subgroup, 37.1% of families reported high parenting stress. High stress families reported a higher T-score in anxiety/depression, withdrawn behavior, somatic complaints, thought problems, attention problems, and delinquent and aggressive behavior of their children with PWS. After multivariate stepwise logistic regression analysis, the T-score of somatic complaints was the only factor related to high parenting stress, with an odds ratio of 1.279. Our data demonstrated the high care burden of families with PWS and highlighted the importance of having dedicated medical care for both somatic and neuropsychiatric symptoms.

    https://doi.org/10.1530/ec-20-0520https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Marbach+F&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-1https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Elgizouli+M&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Rech+M&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-4https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Beygo+J&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Erger+F&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Velmans+C&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Velmans+C&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Stumpel+CTRM&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-7https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Stegmann+APA&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-7https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Beck-W%C3%B6dl+S&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-8https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Gillessen-Kaesbach+G&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Gillessen-Kaesbach+G&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-9https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Horsthemke+B&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/33076953/#affiliation-2https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Schaaf+CP&cauthor_id=33076953https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Kuechler+A&cauthor_id=33076953https://doi.org/10.1186/s13023-020-01557-8https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Wong+SB&cauthor_id=33043996https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Wang+TS&cauthor_id=33043996https://pubmed.ncbi.nlm.nih.gov/?term=33046090%2C33043996&format=abstract&sort=date&size=50#search-result-1-2-affiliation-3https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Tsai+WH&cauthor_id=33043996https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Tzeng+IS&cauthor_id=33043996https://pubmed.ncbi.nlm.nih.gov/?term=33046090%2C33043996&format=abstract&sort=date&size=50#search-result-1-2-affiliation-4https://pubmed.ncbi.nlm.nih.gov/?sort=date&size=50&term=Tsai+LP&cauthor_id=33043996https://pubmed.ncbi.nlm.nih.gov/33043996/https://pubmed.ncbi.nlm.nih.gov/33043996/https://pubmed.ncbi.nlm.nih.gov/33043996/https://pubmed.ncbi.nlm.nih.gov/33043996/

  • Keywords: Parenting Stress Index-short form; Prader-Willi syndrome; child behavior checklist; parenting stress. PMID: 33043996 DOI: 10.1002/ajmg.a.61915 Genetics and brain imaging Lotte Hatt , Ripudaman Singh , Rikke Christensen , Katarina Ravn , Inga B Christensen1, Line Dahl Jeppesen , Bolette Hestbek Nicolaisen , Mathias Kølvraa , Palle Schelde , Lotte Andreassen , Richard Farlie , Niels Uldbjerg , Ida Vogel . Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations. Clin Case Rep. 2020 Aug 9;8(12):2561-2567.. eCollection 2020 Dec. Abstract In two cases, cell-based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs. Keywords: 3p deletion; 3p26 deletion; Noninvasive prenatal testing; Prader‐Willi syndrome; cell‐based noninvasive prenatal testing; copy number variation. PMID: 33363780 PMCID: PMC7752386 DOI: 10.1002/ccr3.3211 Zhan-Qi Feng , Chang-Qing Mao , Zhi-An Jing , Song-Lin Chen , Qian Zhang , Bo Zhang , Jun-Xiang Su , Hong-Dan Wang . [Cytogenetic and molecular analysis of a case of Prader-Willi syndrome] [Article in Chinese]. Zhonghua Nan Ke Xue. 2020 Feb;26(2):154-159. Abstract Objective: To investigate the significance of cytogenetic and molecular genetic diagnosis of a special type of secondary sexual dysplasia and the applicability of various methods for its detection. Methods: