{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T01:14:39Z","timestamp":1793754879533,"version":"4.6.1"},"reference-count":239,"publisher":"Bioscientifica","issue":"8","license":[{"start":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T00:00:00Z","timestamp":1717545600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,6,5]]},"abstract":"<jats:p>Prader\u2013Willi syndrome (PWS) is a rare orphan disease and complex genetic neurodevelopmental disorder, with a birth incidence of approximately 1 in 10,000\u201330,000. Management of people with PWS requires a multi-disciplinary approach, ideally through a multi-disciplinary team (MDT) clinic with community support. Hypotonia, poor feeding and faltering growth are characteristic features in the neonatal period, followed by hyperphagia and risk of rapid weight gain later in childhood. Children and adolescents (CA) with PWS usually display developmental delay and mild learning disability and can develop endocrinopathies, scoliosis, respiratory difficulties (both central and obstructive sleep apnoea), challenging behaviours, skin picking, and mental health issues, especially into adulthood. This consensus statement is intended to be a reference document for clinicians managing children and adolescents (up to 18 years of age) with PWS. It considers the bio-psycho-social domains of diagnosis, clinical assessment, and management in the paediatric setting as well as during and after transition to adult services. The guidance has been developed from information gathered from peer-reviewed scientific reports and from the expertise of a range of experienced clinicians in the United Kingdom and Ireland involved in the care of patients with PWS.<\/jats:p>","DOI":"10.1530\/ec-24-0091","type":"journal-article","created":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T11:44:51Z","timestamp":1717674291000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":27,"title":["Prader\u2013Willi syndrome: guidance for children and transition into adulthood"],"prefix":"10.1530","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2316-3334","authenticated-orcid":true,"given":"M Guftar","family":"Shaikh","sequence":"first","affiliation":[{"name":"Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK"},{"name":"Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy G","family":"Barrett","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Birmingham Womens and Children\u2019s Hospital, Birmingham, UK"},{"name":"Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Bridges","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology, Chelsea and Westminster Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Chung","sequence":"additional","affiliation":[{"name":"Research Working Group, Prader-Willi Syndrome Association, Northampton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelien F","family":"Gevers","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology, Barts Health NHS Trust, Royal London Hospital, London, UK"},{"name":"Centre for Endocrinology, William Harvey Research Institute, Barts and The London Medical School, Queen Mary University of London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8179-7071","authenticated-orcid":true,"given":"Anthony P","family":"Goldstone","sequence":"additional","affiliation":[{"name":"PsychoNeuroEndocrinologyResearch Group, Division of Psychiatry, Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK"},{"name":"Department of Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Holland","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shankar","family":"Kanumakala","sequence":"additional","affiliation":[{"name":"Royal Alexandra Children\u2019s Hospital, Brighton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Krone","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Birmingham Womens and Children\u2019s Hospital, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Kyriakou","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK"},{"name":"Department of Paediatric Endocrinology, Makarios Children's Hospital, Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E Anne","family":"Livesey","sequence":"additional","affiliation":[{"name":"Royal Alexandra Children\u2019s Hospital, Brighton, UK"},{"name":"Sussex Community NHS Trust, Brighton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2662-1684","authenticated-orcid":true,"given":"Angela K","family":"Lucas-Herald","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK"},{"name":"Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Meade","sequence":"additional","affiliation":[{"name":"CHI at Tallaght University Hospital, Dublin, Republic of Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Passmore","sequence":"additional","affiliation":[{"name":"Prader-Willi Syndrome Association, Northampton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edna","family":"Roche","sequence":"additional","affiliation":[{"name":"CHI at Tallaght University Hospital, Dublin, Republic of 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Prader-Willi syndrome - clinical genetics, diagnosis and treatment approaches: an update. Current Pediatric Reviews201915207\u2013244. (https:\/\/doi.org\/10.2174\/1573396315666190716120925)"},{"key":"bib2","series-title":"Orphanet Journal of Rare Diseases","first-page":"118","article-title":"Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome","volume":"12","author":"Bar","year":"2017","unstructured":"Bar CDiene GMolinas CBieth ECasper C & Tauber M. Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome. Orphanet Journal of Rare Diseases201712118. (https:\/\/doi.org\/10.1186\/s13023-017-0673-6)"},{"key":"bib3","series-title":"Journal of Medical Genetics","first-page":"792","article-title":"Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region","volume":"38","author":"Whittington","year":"2001","unstructured":"Whittington JEHolland AJWebb TButler JClarke D & Boer H. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. Journal of Medical Genetics200138792\u2013798. (https:\/\/doi.org\/10.1136\/jmg.38.11.792)"},{"key":"bib4","series-title":"Journal of Clinical Research in Pediatric Endocrinology","first-page":"264","article-title":"Neonatal features of the Prader-Willi syndrome; the case for making the diagnosis during the first week of life","volume":"10","author":"\u00c7izmecio\u011flu","year":"2018","unstructured":"\u00c7izmecio\u011flu FMJones JHPaterson WFKherra SKourime MMcGowan RShaikh MG & Donaldson M. Neonatal features of the Prader-Willi syndrome; the case for making the diagnosis during the first week of life. Journal of Clinical Research in Pediatric Endocrinology201810264\u2013273. (https:\/\/doi.org\/10.4274\/jcrpe.0029)"},{"key":"bib5","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"4183","article-title":"Recommendations for the diagnosis and management of Prader-Willi syndrome","volume":"93","author":"Goldstone","year":"2008","unstructured":"Goldstone APHolland AJHauffa BPHokken-Koelega ACTauber M & speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS. Recommendations for the diagnosis and management of Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism2008934183\u20134197. (https:\/\/doi.org\/10.1210\/jc.2008-0649)"},{"key":"bib6","series-title":"American Journal of Medical Genetics. Part A","first-page":"1040","article-title":"Nutritional phases in Prader\u2013Willi syndrome","volume":"155A","author":"Miller","year":"2011","unstructured":"Miller JLLynn CHDriscoll DCGoldstone APGold JAKimonis VDykens EButler MGShuster JJ & Driscoll DJ. 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(https:\/\/doi.org\/10.1210\/jcem.80.2.7852523)"},{"key":"bib23","series-title":"Molecular Psychiatry","first-page":"7582","article-title":"Oxytocin administration in neonates shapes hippocampal circuitry and restores social behavior in a mouse model of autism","volume":"26","author":"Bertoni","year":"2021","unstructured":"Bertoni ASchaller FTyzio RGaillard SSantini FXolin MDiabira DVaidyanathan RMatarazzo VMedina I, et al.Oxytocin administration in neonates shapes hippocampal circuitry and restores social behavior in a mouse model of autism. Molecular Psychiatry2021267582\u20137595. (https:\/\/doi.org\/10.1038\/s41380-021-01227-6)"},{"key":"bib24","series-title":"Pediatrics","first-page":"e20162976","article-title":"The use of oxytocin to improve feeding and social skills in infants with Prader-Willi syndrome","volume":"139","author":"Tauber","year":"2017","unstructured":"Tauber MBoulanouar KDiene G\u00c7abal-Berthoumieu SEhlinger VFichaux-Bourin PMolinas CFaye SValette MPourrinet J, et al.The use of oxytocin to improve feeding and social skills in infants with Prader-Willi syndrome. Pediatrics2017139e20162976. (https:\/\/doi.org\/10.1542\/peds.2016-2976)"},{"key":"bib25","series-title":"American Journal of Clinical Nutrition","first-page":"468","article-title":"Resting metabolic rate, plasma leptin concentrations, leptin receptor expression, and adipose tissue measured by whole-body magnetic resonance imaging in women with Prader-Willi syndrome","volume":"75","author":"Goldstone","year":"2002","unstructured":"Goldstone APBrynes AEThomas ELBell JDFrost GHolland AGhatei MA & Bloom SR. Resting metabolic rate, plasma leptin concentrations, leptin receptor expression, and adipose tissue measured by whole-body magnetic resonance imaging in women with Prader-Willi syndrome. American Journal of Clinical Nutrition200275468\u2013475. (https:\/\/doi.org\/10.1093\/ajcn\/75.3.468)"},{"key":"bib26","series-title":"Journal of Pediatrics","first-page":"222","article-title":"Body fat determined by skinfold measurements is elevated despite underweight in infants with Prader-Labhart-Willi syndrome","volume":"134","author":"Eiholzer","year":"1999","unstructured":"Eiholzer UBlum WF & Molinari L. Body fat determined by skinfold measurements is elevated despite underweight in infants with Prader-Labhart-Willi syndrome. Journal of Pediatrics1999134222\u2013225. (https:\/\/doi.org\/10.1016\/s0022-3476(9970419-1)"},{"key":"bib27","series-title":"BMJ","first-page":"j4219","article-title":"Faltering growth in children: summary of NICE guidance","volume":"358","year":"2017","unstructured":"Gonzalez-Viana EDworzynski KMurphy MSPeek R & Committee Guideline. Faltering growth in children: summary of NICE guidance. BMJ2017358 j4219. 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Dietary management for adolescents with Prader-Willi syndrome. Adolescent Health, Medicine and Therapeutics202011113\u2013118. (https:\/\/doi.org\/10.2147\/AHMT.S214893)"},{"key":"bib31","series-title":"Advances in Nutrition","first-page":"905","article-title":"Energy Metabolism profile in individuals with Prader-Willi syndrome and implications for clinical management: a systematic review","volume":"8","author":"Alsaif","year":"2017","unstructured":"Alsaif MElliot SAMacKenzie MLPrado CMField CJ & Haqq AM. Energy Metabolism profile in individuals with Prader-Willi syndrome and implications for clinical management: a systematic review. Advances in Nutrition20178905\u2013915. 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American Journal of Medical Genetics. Part A2011155A2112\u20132124. (https:\/\/doi.org\/10.1002\/ajmg.a.34171)"},{"key":"bib34","series-title":"American Journal of Medical Genetics. Part A","first-page":"861","article-title":"The Italian National Survey for Prader-Willi syndrome: an epidemiologic study","volume":"146A","author":"Grugni","year":"2008","unstructured":"Grugni GCrin\u00f2 ABosio LCorrias ACuttini MDe Toni TDi Battista EFranzese AGargantini LGreggio N, et al.The Italian National Survey for Prader-Willi syndrome: an epidemiologic study. American Journal of Medical Genetics. Part A2008146A861\u2013872. 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Dietary intake and growth in children with Prader\u2013Willi syndrome. Journal of Human Nutrition and Dietetics202134784\u2013791. (https:\/\/doi.org\/10.1111\/jhn.12882)"},{"key":"bib40","series-title":"American Journal of Medical Genetics. Part A","first-page":"2309","article-title":"Dietary intake in youth with Prader-Willi syndrome","volume":"176","author":"Mackenzie","year":"2018","unstructured":"Mackenzie MLTriador LGill JKPakseresht MMager DField CJ & Haqq AM. Dietary intake in youth with Prader-Willi syndrome. American Journal of Medical Genetics. Part A20181762309\u20132317. 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Part A","first-page":"569","article-title":"Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome","volume":"155A","author":"Miller","year":"2011","unstructured":"Miller JLLynn CHShuster J & Driscoll DJ. Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome. American Journal of Medical Genetics. Part A2011155A569\u2013573. (https:\/\/doi.org\/10.1002\/ajmg.a.33887)"},{"key":"bib43","series-title":"Acta Paediatrica","first-page":"1665","article-title":"Prader-Willi syndrome in children: quality of life and caregiver burden","volume":"110","author":"Meade","year":"2021","unstructured":"Meade CMartin RMcCrann ALyons JMeehan JHoey H & Roche E. Prader-Willi syndrome in children: quality of life and caregiver burden. Acta Paediatrica20211101665\u20131670. (https:\/\/doi.org\/10.1111\/apa.15738)"},{"key":"bib44","series-title":"Frontiers in Psychiatry","first-page":"897138","article-title":"Family matters: trauma and quality of life in family members of individuals with Prader-Willi syndrome","volume":"13","author":"Bos-Roubos","year":"2022","unstructured":"Bos-Roubos AWingberm\u00fchle EBiert AGraaff Ld & Egger J. Family matters: trauma and quality of life in family members of individuals with Prader-Willi syndrome. Frontiers in Psychiatry202213897138. (https:\/\/doi.org\/10.3389\/fpsyt.2022.897138)"},{"key":"bib45","series-title":"Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy","first-page":"579","article-title":"Obesity management in Prader-Willi syndrome: current perspectives","volume":"11","author":"Crin\u00f2","year":"2018","unstructured":"Crin\u00f2 AFintini DBocchini S & Grugni G. Obesity management in Prader-Willi syndrome: current perspectives. Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy201811579\u2013593. (https:\/\/doi.org\/10.2147\/DMSO.S141352)"},{"key":"bib46","series-title":"Clinical Endocrinology","first-page":"144","article-title":"The effects of glucagon-like peptide (GLP)-1 receptor agonists on weight and glycaemic control in Prader-Willi syndrome: a systematic review","volume":"96","author":"Ng","year":"2022","unstructured":"Ng NBHLow YWRajgor DDLow JMLim YYLoke KY & Lee YS. The effects of glucagon-like peptide (GLP)-1 receptor agonists on weight and glycaemic control in Prader-Willi syndrome: a systematic review. Clinical Endocrinology202296144\u2013154. (https:\/\/doi.org\/10.1111\/cen.14583)"},{"key":"bib47","series-title":"European Journal of Medical Genetics","first-page":"14","article-title":"Psychiatric adverse effects of rimonobant in adults with Prader Willi syndrome","volume":"54","author":"Motaghedi","year":"2011","unstructured":"Motaghedi RLipman EGHogg JEChristos PJVogiatzi MG & Angulo MA. Psychiatric adverse effects of rimonobant in adults with Prader Willi syndrome. European Journal of Medical Genetics20115414\u201318. 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Medication trials for hyperphagia and food-related behaviors in Prader-Willi syndrome. Diseases2015378\u201385. (https:\/\/doi.org\/10.3390\/diseases3020078)"},{"key":"bib50","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"1676","article-title":"Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: a double-blind, placebo-controlled trial","volume":"108","author":"Miller","year":"2023","unstructured":"Miller JLGevers EBridges NYanovski JASalehi PObrynba KSFelner EIBird LMShoemaker AHAngulo M, et al.Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: a double-blind, placebo-controlled trial. Journal of Clinical Endocrinology and Metabolism20231081676\u20131685. (https:\/\/doi.org\/10.1210\/clinem\/dgad014)"},{"key":"bib51","series-title":"Journal of Pediatric Gastroenterology and Nutrition","first-page":"80","article-title":"Critical analysis of bariatric procedures in Prader-Willi syndrome","volume":"46","author":"Scheimann","year":"2008","unstructured":"Scheimann AOButler MGGourash LCuffari C & Klish W. Critical analysis of bariatric procedures in Prader-Willi syndrome. Journal of Pediatric Gastroenterology and Nutrition20084680\u201383. (https:\/\/doi.org\/10.1097\/01.mpg.0000304458.30294.31)"},{"key":"bib52","series-title":"Obesity","first-page":"973","article-title":"Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders","volume":"30","author":"Gantz","year":"2022","unstructured":"Gantz MGDriscoll DJMiller JLDuis JBButler MGGourash LForster J & Scheimann AO. Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders. Obesity202230973\u2013981. (https:\/\/doi.org\/10.1002\/oby.23385)"},{"key":"bib53","series-title":"Nutrients","article-title":"Efficacy and safety of a ketogenic diet in children and adolescents with refractory epilepsy-a review","volume":"12","author":"Wells","year":"2020","unstructured":"Wells JSwaminathan APaseka J & Hanson C. Efficacy and safety of a ketogenic diet in children and adolescents with refractory epilepsy-a review. Nutrients202012. (https:\/\/doi.org\/10.3390\/nu12061809)"},{"issue":"Supplement 1","key":"bib54","series-title":"Obesity (Silver Spring)","first-page":"S1","article-title":"Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia","volume":"22","author":"Heymsfield","year":"2014","unstructured":"Heymsfield SBAvena NMBaier LBrantley PBray GABurnett LCButler MGDriscoll DJEgli DElmquist J, et al.Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia. Obesity (Silver Spring)201422(Supplement 1) S1\u2013S17. (https:\/\/doi.org\/10.1002\/oby.20646)"},{"key":"bib55","series-title":"Clinical Endocrinology","first-page":"649","article-title":"Physical exercise and Prader-Willi syndrome: a systematic review","volume":"90","author":"Morales","year":"2019","unstructured":"Morales JSValenzuela PLPareja-Galeano HRinc\u00f3n-Castanedo CRubin DA & Lucia A. Physical exercise and Prader-Willi syndrome: a systematic review. Clinical Endocrinology201990649\u2013661. (https:\/\/doi.org\/10.1111\/cen.13953)"},{"key":"bib56","series-title":"Disability and Rehabilitation","first-page":"3475","article-title":"Physiotherapists perceived developing positive rapport facilitates participation in exercise among people with Prader-Willi syndrome: a qualitative study","volume":"42","author":"Shields","year":"2020","unstructured":"Shields NWestle ABennell KL & Taylor NF. Physiotherapists perceived developing positive rapport facilitates participation in exercise among people with Prader-Willi syndrome: a qualitative study. Disability and Rehabilitation2020423475\u20133480. (https:\/\/doi.org\/10.1080\/09638288.2019.1597176)"},{"key":"bib57","series-title":"Neuroscience and Biobehavioral Reviews","first-page":"956","article-title":"Motor problems in Prader-Willi syndrome: a systematic review on body composition and neuromuscular functioning","volume":"35","author":"Reus","year":"2011","unstructured":"Reus LZwarts Mvan Vlimmeren LAWillemsen MAOtten BJ & Nijhuis-van der Sanden MWG. Motor problems in Prader-Willi syndrome: a systematic review on body composition and neuromuscular functioning. Neuroscience and Biobehavioral Reviews201135956\u2013969. (https:\/\/doi.org\/10.1016\/j.neubiorev.2010.10.015)"},{"key":"bib58","series-title":"Pediatrics","first-page":"e1619","article-title":"Growth hormone therapy, muscle thickness, and motor development in Prader-Willi syndrome: an RCT","volume":"134","author":"Reus","year":"2014","unstructured":"Reus LPillen SPelzer BJvan Alfen-van der Velden JAAEMHokken-Koelega ACSZwarts MOtten BJ & Nijhuis-van der Sanden MWG. Growth hormone therapy, muscle thickness, and motor development in Prader-Willi syndrome: an RCT. Pediatrics2014134e1619\u2013e1627. (https:\/\/doi.org\/10.1542\/peds.2013-3607)"},{"key":"bib59","series-title":"Research in Developmental Disabilities","first-page":"3092","article-title":"Growth hormone combined with child-specific motor training improves motor development in infants with Prader-Willi syndrome: a randomized controlled trial","volume":"34","author":"Reus","year":"2013","unstructured":"Reus LPelzer BJOtten BJSiemensma EPCvan Alfen-van der Velden JAAEMFesten DAMHokken-Koelega ACS & Nijhuis-van der Sanden MWG. Growth hormone combined with child-specific motor training improves motor development in infants with Prader-Willi syndrome: a randomized controlled trial. Research in Developmental Disabilities2013343092\u20133103. (https:\/\/doi.org\/10.1016\/j.ridd.2013.05.043)"},{"key":"bib60","year":"2003","unstructured":"National Institute for Health and Care Excellence. Human growth hormone (somatropin) in adults with growth hormone deficiency.TA64. London, UK: NICE, 2003. (available at: https:\/\/www.nice.org.uk\/guidance\/ta64)"},{"key":"bib61","series-title":"BMJ Paediatrics Open","first-page":"e000630","article-title":"Growth hormone treatment in Prader-Willi syndrome patients: systematic review and meta-analysis","volume":"4","author":"Passone","year":"2020","unstructured":"Passone CGBFranco RRIto SSTrindade EPolak MDamiani D & Bernardo WM. Growth hormone treatment in Prader-Willi syndrome patients: systematic review and meta-analysis. BMJ Paediatrics Open20204e000630. 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(https:\/\/doi.org\/10.1136\/archdischild-2013-303760)"},{"key":"bib64","series-title":"Acta Paediatrica","first-page":"28","article-title":"Growth hormone treatment of children with Prader-Willi syndrome affects linear growth and body composition favourably","volume":"87","author":"Lindgren","year":"1998","unstructured":"Lindgren ACHagen\u00e4s LM\u00fcller JBlichfeldt SRosenborg MBrismar T & Ritz\u00e9n EM. Growth hormone treatment of children with Prader-Willi syndrome affects linear growth and body composition favourably. Acta Paediatrica19988728\u201331. (https:\/\/doi.org\/10.1080\/08035259850157822)"},{"key":"bib65","series-title":"Best Practice and Research. Clinical Endocrinology and Metabolism","first-page":"785","article-title":"Diagnosis and treatment of GH deficiency in Prader-Willi syndrome","volume":"30","author":"Grugni","year":"2016","unstructured":"Grugni G & Marzullo P. Diagnosis and treatment of GH deficiency in Prader-Willi syndrome. Best Practice and Research. Clinical Endocrinology and Metabolism201630785\u2013794. (https:\/\/doi.org\/10.1016\/j.beem.2016.11.003)"},{"key":"bib66","series-title":"Journal of Child Psychology and Psychiatry, and Allied Disciplines","first-page":"64","article-title":"Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome","volume":"58","author":"Dykens","year":"2017","unstructured":"Dykens EMRoof E & Hunt-Hawkins H. Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome. Journal of Child Psychology and Psychiatry, and Allied Disciplines20175864\u201374. (https:\/\/doi.org\/10.1111\/jcpp.12601)"},{"key":"bib67","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"2307","article-title":"Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study","volume":"97","author":"Siemensma","year":"2012","unstructured":"Siemensma EPCTummers-de Lind van Wijngaarden RFAFesten DAMTroeman ZCEvan Alfen-van der Velden AAEMJOtten BJRotteveel JOdink RJHBindels-de Heus GCBKvan Leeuwen M, et al.Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study. Journal of Clinical Endocrinology and Metabolism2012972307\u20132314. (https:\/\/doi.org\/10.1210\/jc.2012-1182)"},{"key":"bib68","series-title":"Clinical Endocrinology","first-page":"919","article-title":"Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome","volume":"68","author":"Festen","year":"2008","unstructured":"Festen DAWevers MLindgren ACB\u00f6hm BOtten BJWit JMDuivenvoorden HJ & Hokken-Koelega AC. Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome. Clinical Endocrinology200868919\u2013925. (https:\/\/doi.org\/10.1111\/j.1365-2265.2007.03126.x)"},{"key":"bib69","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"2206","article-title":"Effects of growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader-Willi syndrome","volume":"88","author":"Haqq","year":"2003","unstructured":"Haqq AMStadler DDJackson RHRosenfeld RGPurnell JQ & LaFranchi SH. Effects of growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism2003882206\u20132212. (https:\/\/doi.org\/10.1210\/jc.2002-021536)"},{"key":"bib70","series-title":"European Journal of Endocrinology","first-page":"405","article-title":"Cognitive functioning in children with Prader-Willi syndrome during 8 years of growth hormone treatment","volume":"182","author":"Donze","year":"2020","unstructured":"Donze SHDamen LMahabier EF & Hokken-Koelega ACS. Cognitive functioning in children with Prader-Willi syndrome during 8 years of growth hormone treatment. European Journal of Endocrinology2020182405\u2013411. (https:\/\/doi.org\/10.1530\/EJE-19-0479)"},{"key":"bib71","series-title":"Endocrine","first-page":"321","article-title":"Effects of growth hormone on cognitive, motor, and behavioral development in Prader-Willi syndrome children: a meta-analysis of randomized controlled trials","volume":"71","author":"Luo","year":"2021","unstructured":"Luo YZheng ZYang YBai XYang HZhu HPan H & Chen S. Effects of growth hormone on cognitive, motor, and behavioral development in Prader-Willi syndrome children: a meta-analysis of randomized controlled trials. Endocrine202171321\u2013330. (https:\/\/doi.org\/10.1007\/s12020-020-02547-3)"},{"key":"bib72","series-title":"European Child and Adolescent Psychiatry","first-page":"1091","article-title":"Behavior in children with Prader-Willi syndrome before and during growth hormone treatment: a randomized controlled trial and 8-year longitudinal study","volume":"24","author":"Lo","year":"2015","unstructured":"Lo STSiemensma EPCFesten DAMCollin PJL & Hokken-Koelega ACS. Behavior in children with Prader-Willi syndrome before and during growth hormone treatment: a randomized controlled trial and 8-year longitudinal study. European Child and Adolescent Psychiatry2015241091\u20131101. (https:\/\/doi.org\/10.1007\/s00787-014-0662-4)"},{"key":"bib73","series-title":"Journal of Molecular Endocrinology","first-page":"R107","article-title":"Action of GH on skeletal muscle function: molecular and metabolic mechanisms","volume":"52","author":"Chikani","year":"2014","unstructured":"Chikani V & Ho KKY. Action of GH on skeletal muscle function: molecular and metabolic mechanisms. Journal of Molecular Endocrinology201452R107\u2013R123. (https:\/\/doi.org\/10.1530\/JME-13-0208)"},{"key":"bib74","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"E328","article-title":"Growth hormone therapy for children and adolescents with Prader-Willi syndrome is associated with improved body composition and metabolic status in adulthood","volume":"98","author":"Coupaye","year":"2013","unstructured":"Coupaye MLorenzini FLloret-Linares CMolinas CPinto GDiene GMimoun EDemeer GLabrousse FJauregi J, et al.Growth hormone therapy for children and adolescents with Prader-Willi syndrome is associated with improved body composition and metabolic status in adulthood. Journal of Clinical Endocrinology and Metabolism201398E328\u2013E335. (https:\/\/doi.org\/10.1210\/jc.2012-2881)"},{"key":"bib75","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"E1072","article-title":"GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome","volume":"98","author":"Deal","year":"2013","unstructured":"Deal CLTony MH\u00f6ybye CAllen DBTauber MChristiansen JS & 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants. GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism201398E1072\u2013E1087. (https:\/\/doi.org\/10.1210\/jc.2012-3888)"},{"key":"bib76","series-title":"Orphanet Journal of Rare Diseases","first-page":"216","article-title":"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","volume":"14","author":"Yang","year":"2019","unstructured":"Yang AChoi JHSohn YBEom YLee JYoo 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 Journal of Rare Diseases201914216. (https:\/\/doi.org\/10.1186\/s13023-019-1195-1)"},{"key":"bib77","series-title":"Hormone Research in Paediatrics","first-page":"85","article-title":"Sleep-disordered breathing in children with Prader-Willi syndrome in relation to growth hormone therapy onset","volume":"93","author":"Zimmermann","year":"2020","unstructured":"Zimmermann MLaemmer CWoelfle JFimmers R & Gohlke B. Sleep-disordered breathing in children with Prader-Willi syndrome in relation to growth hormone therapy onset. Hormone Research in Paediatrics20209385\u201393. (https:\/\/doi.org\/10.1159\/000506943)"},{"key":"bib78","series-title":"American Journal of Medical Genetics. Part A","first-page":"881","article-title":"Review of 64 cases of death in children with Prader-Willi syndrome (PWS)","volume":"146A","author":"Tauber","year":"2008","unstructured":"Tauber MDiene GMolinas C & H\u00e9bert M. Review of 64 cases of death in children with Prader-Willi syndrome (PWS). American Journal of Medical Genetics. Part A2008146A881\u2013887. (https:\/\/doi.org\/10.1002\/ajmg.a.32131)"},{"key":"bib79","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"413","article-title":"Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome","volume":"91","author":"Miller","year":"2006","unstructured":"Miller JSilverstein JShuster JDriscoll DJ & Wagner M. Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism200691413\u2013417. (https:\/\/doi.org\/10.1210\/jc.2005-1279)"},{"key":"bib80","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"4911","article-title":"Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment","volume":"91","author":"Festen","year":"2006","unstructured":"Festen DAde Weerd AWvan den Bossche RAJoosten KHoeve H & Hokken-Koelega AC. Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment. Journal of Clinical Endocrinology and Metabolism2006914911\u20134915. (https:\/\/doi.org\/10.1210\/jc.2006-0765)"},{"key":"bib81","series-title":"PLoS One","first-page":"e101012","article-title":"Clinically important age-related differences in sleep related disordered breathing in infants and children with Prader-Willi syndrome","volume":"9","author":"Cohen","year":"2014","unstructured":"Cohen MHamilton J & Narang I. Clinically important age-related differences in sleep related disordered breathing in infants and children with Prader-Willi syndrome. PLoS One20149e101012. (https:\/\/doi.org\/10.1371\/journal.pone.0101012)"},{"key":"bib82","series-title":"Paediatric Respiratory Reviews","first-page":"52","article-title":"Respiratory complications in children with prader Willi syndrome","volume":"22","author":"Tan","year":"2017","unstructured":"Tan HL & Urquhart DS. Respiratory complications in children with prader Willi syndrome. Paediatric Respiratory Reviews20172252\u201359. (https:\/\/doi.org\/10.1016\/j.prrv.2016.08.002)"},{"key":"bib83","series-title":"European Respiratory Society","first-page":"1235","article-title":"Evans H. Central and obstructive apnoea-hypopnea indices","volume":"56","author":"Oladele","year":"2020","unstructured":"Oladele DMGajaweera HGavlak JDavies J & Connett G. Evans H. Central and obstructive apnoea-hypopnea indices pre and post growth hormone commencement in children with Prader-Willis syndrome following introduction of a screening programme. European Respiratory Society2020561235. (https:\/\/doi.org\/10.1183\/13993003.congress-2020.1235)"},{"key":"bib84","series-title":"Lung","first-page":"257","article-title":"Evaluation and management of children with obstructive sleep apnea syndrome","volume":"198","author":"Bitners","year":"2020","unstructured":"Bitners AC & Arens R. Evaluation and management of children with obstructive sleep apnea syndrome. Lung2020198257\u2013270. (https:\/\/doi.org\/10.1007\/s00408-020-00342-5)"},{"key":"bib85","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"4600","article-title":"Elevated insulin-like growth factor-I values in children with Prader-Willi syndrome compared with growth hormone (GH) deficiency children over two years of GH treatment","volume":"95","author":"Feigerlov\u00e1","year":"2010","unstructured":"Feigerlov\u00e1 EDiene GOliver IGennero ISalles JPArnaud C & Tauber M. Elevated insulin-like growth factor-I values in children with Prader-Willi syndrome compared with growth hormone (GH) deficiency children over two years of GH treatment. Journal of Clinical Endocrinology and Metabolism2010954600\u20134608. (https:\/\/doi.org\/10.1210\/jc.2009-1831)"},{"key":"bib86","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"3041","article-title":"IGF-1 levels, complex formation, and IGF bioactivity in growth hormone-treated children with Prader-Willi syndrome","volume":"100","author":"Bakker","year":"2015","unstructured":"Bakker NEvan Doorn JRenes JSDonker GH & Hokken-Koelega AC. IGF-1 levels, complex formation, and IGF bioactivity in growth hormone-treated children with Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism20151003041\u20133049. (https:\/\/doi.org\/10.1210\/jc.2015-1410)"},{"key":"bib87","series-title":"Journal of Clinical Medicine","first-page":"1280","article-title":"Free insulin-like growth factor (IGF)-I in children with PWS","volume":"11","author":"Damen","year":"2022","unstructured":"Damen LElizabeth MSMDonze SHvan den Berg SAAde Graaff LCG & Hokken-Koelega ACS. Free insulin-like growth factor (IGF)-I in children with PWS. Journal of Clinical Medicine2022111280. 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(https:\/\/doi.org\/10.1016\/j.ghir.2019.08.003)"},{"key":"bib89","series-title":"Genetics in Medicine","first-page":"1664","article-title":"SNORD116 and growth hormone therapy impact IGFBP7 in Prader\u2013Willi syndrome","volume":"23","author":"Eddiry","year":"2021","unstructured":"Eddiry SDiene GMolinas CSalles JAuriol FCGennero IBieth ESkryabin BVRozhdestvensky TSBurnett LC, et al.SNORD116 and growth hormone therapy impact IGFBP7 in Prader\u2013Willi syndrome. Genetics in Medicine2021231664\u20131672. (https:\/\/doi.org\/10.1038\/s41436-021-01185-y)"},{"key":"bib90","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"3913","article-title":"Optimizing growth hormone replacement therapy by dose titration in hypopituitary adults","volume":"83","author":"Drake","year":"1998","unstructured":"Drake WMCoyte DCamacho-H\u00fcbner CJivanji NMKaltsas GWood DFTrainer PJGrossman ABBesser GM & Monson JP. Optimizing growth hormone replacement therapy by dose titration in hypopituitary adults. Journal of Clinical Endocrinology and Metabolism1998833913\u20133919. (https:\/\/doi.org\/10.1210\/jcem.83.11.5223)"},{"key":"bib91","series-title":"Journal of Clinical Medicine","article-title":"Twenty years of GH treatment in adults with Prader-Willi syndrome","volume":"10","author":"Sj\u00f6str\u00f6m","year":"2021","unstructured":"Sj\u00f6str\u00f6m A & H\u00f6ybye C. Twenty years of GH treatment in adults with Prader-Willi syndrome. Journal of Clinical Medicine202110,. (https:\/\/doi.org\/10.3390\/jcm10122667)"},{"key":"bib92","series-title":"Clinical Endocrinology","first-page":"645","article-title":"The use of growth hormone therapy in adults with Prader-Willi syndrome: a systematic review","volume":"94","author":"Frixou","year":"2021","unstructured":"Frixou MVlek DLucas-Herald AKKeir LKyriakou A & Shaikh MG. The use of growth hormone therapy in adults with Prader-Willi syndrome: a systematic review. Clinical Endocrinology202194645\u2013655. (https:\/\/doi.org\/10.1111\/cen.14372)"},{"key":"bib93","series-title":"Frontiers in Endocrinology","first-page":"14","article-title":"Long-term effects of GH therapy in adult patients with Prader-Willi syndrome: a longitudinal study","volume":"26","author":"Grugni","year":"2023","unstructured":"Grugni GSartorio ASoranna DZambon AGrugni LZampino G & Crin\u00f2 A. Long-term effects of GH therapy in adult patients with Prader-Willi syndrome: a longitudinal study. Frontiers in Endocrinology2023\u2013 2614. 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Effects of recombinant human growth hormone therapy in adults with Prader\u2013Willi syndrome: a meta-analysis. Clinical Endocrinology20127786\u201393. (https:\/\/doi.org\/10.1111\/j.1365-2265.2011.04303.x)"},{"key":"bib98","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"1816","article-title":"Skeletal muscle characteristics and motor performance after 2-year growth hormone treatment in adults with Prader-Willi syndrome","volume":"99","author":"Lafortuna","year":"2014","unstructured":"Lafortuna CLMinocci ACapodaglio PGondoni LASartorio AVismara LRizzo G & Grugni G. Skeletal muscle characteristics and motor performance after 2-year growth hormone treatment in adults with Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism2014991816\u20131824. 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Growth hormone treatment in adults with Prader-Willi syndrome: the Scandinavian study. Endocrine201241191\u2013199. (https:\/\/doi.org\/10.1007\/s12020-011-9560-4)"},{"key":"bib102","series-title":"Clinical Endocrinology","first-page":"653","article-title":"Growth hormone treatment improves body composition in adults with Prader-Willi syndrome","volume":"58","author":"H\u00f6ybye","year":"2003","unstructured":"H\u00f6ybye CHilding AJacobsson H & Thor\u00e9n M. Growth hormone treatment improves body composition in adults with Prader-Willi syndrome. Clinical Endocrinology200358653\u2013661. (https:\/\/doi.org\/10.1046\/j.1365-2265.2003.01769.x)"},{"key":"bib103","series-title":"Calcified Tissue International","first-page":"160","article-title":"Adults with Prader-Willi syndrome have weaker bones: effect of treatment with GH and sex steroids","volume":"96","author":"Longhi","year":"2015","unstructured":"Longhi SGrugni GGatti DSpinozzi ESartorio AAdami SFanolla A & Radetti G. Adults with Prader-Willi syndrome have weaker bones: effect of treatment with GH and sex steroids. Calcified Tissue International201596160\u2013166. (https:\/\/doi.org\/10.1007\/s00223-014-9949-1)"},{"key":"bib104","series-title":"Calcified Tissue International","first-page":"635","article-title":"Analysis of circulating mediators of bone remodeling in Prader-Willi syndrome","volume":"102","author":"Brunetti","year":"2018","unstructured":"Brunetti GGrugni GPiacente LDelvecchio MVentura AGiordano PGrano MD'Amato GLaforgia DCrin\u00f2 A, et al.Analysis of circulating mediators of bone remodeling in Prader-Willi syndrome. Calcified Tissue International2018102635\u2013643. 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Cognitive, emotional, physical and social effects of growth hormone treatment in adults with Prader\u2013Willi syndrome. Journal of Intellectual Disability Research200549245\u2013252. (https:\/\/doi.org\/10.1111\/j.1365-2788.2005.00641.x)"},{"key":"bib108","series-title":"Orphanet Journal of Rare Diseases","first-page":"153","article-title":"Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial","volume":"11","author":"Kuppens","year":"2016","unstructured":"Kuppens RJMahabier EFBakker NESiemensma EPDonze SH & Hokken-Koelega AC. Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial. Orphanet Journal of Rare Diseases201611153. 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Pubarche and serum dehydroepiandrosterone sulphate levels in children with Prader-Willi syndrome. Clinical Endocrinology20117583\u201389. (https:\/\/doi.org\/10.1111\/j.1365-2265.2011.03989.x)"},{"key":"bib112","series-title":"Translational Pediatrics","first-page":"274","article-title":"Review of Prader-Willi syndrome: the endocrine approach","volume":"6","author":"Heksch","year":"2017","unstructured":"Heksch RKamboj MAnglin K & Obrynba K. Review of Prader-Willi syndrome: the endocrine approach. Translational Pediatrics20176274\u2013285. 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Hormone Research in Paediatrics202295(Supplement 2) 1\u201311."},{"key":"bib114","series-title":"Endocrine Connections","first-page":"1134","article-title":"Hypogonadism in the Prader-Willi syndrome from birth to adulthood: a 28-year experience in a single centre","volume":"10","author":"Kherra","year":"2021","unstructured":"Kherra SForsyth Paterson WCizmecio\u011flu FMJones JHKourime MElsedfy HHAmer STKyriakou AShaikh MG & Donaldson MDC. Hypogonadism in the Prader-Willi syndrome from birth to adulthood: a 28-year experience in a single centre. Endocrine Connections2021101134\u20131146. 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Gonadal function and testicular histology in males with Prader-Willi syndrome. Endocrinology, Diabetes and Metabolism20192e00049. (https:\/\/doi.org\/10.1002\/edm2.49)"},{"key":"bib120","series-title":"Journal of Clinical Research in Pediatric Endocrinology","first-page":"65","article-title":"Epidemiology, classification and management of undescended testes: does medication have value in its treatment?","volume":"5","author":"Abac\u0131","year":"2013","unstructured":"Abac\u0131 A\u00c7atl\u0131 GAn\u0131k A & B\u00f6ber E. Epidemiology, classification and management of undescended testes: does medication have value in its treatment?Journal of Clinical Research in Pediatric Endocrinology2013565\u201372. 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Endocrine disorders in children with Prader-Willi syndrome\u2013data from 142 children of the French database. Hormone Research in Paediatrics201074121\u2013128. (https:\/\/doi.org\/10.1159\/000313377)"},{"key":"bib127","series-title":"Human Reproduction","first-page":"2587","article-title":"Sexual dichotomy of gonadal function in Prader-Willi syndrome from early infancy through the fourth decade","volume":"30","author":"Hirsch","year":"2015","unstructured":"Hirsch HJEldar-Geva TBennaroch FPollak Y & Gross-Tsur V. Sexual dichotomy of gonadal function in Prader-Willi syndrome from early infancy through the fourth decade. Human Reproduction2015302587\u20132596. (https:\/\/doi.org\/10.1093\/humrep\/dev213)"},{"key":"bib128","series-title":"Archives of Disease in Childhood","first-page":"975","article-title":"Hormone supplementation for pubertal induction in girls","volume":"102","author":"Matthews","year":"2017","unstructured":"Matthews DBath LH\u00f6gler WMason ASmyth A & Skae M. Hormone supplementation for pubertal induction in girls. Archives of Disease in Childhood2017102975\u2013980. (https:\/\/doi.org\/10.1136\/archdischild-2016-311372)."},{"key":"bib129","series-title":"Journal of Clinical Medicine","first-page":"5781","article-title":"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","volume":"10","author":"Pellikaan","year":"2021","unstructured":"Pellikaan KBen Brahim YRosenberg AGWDavidse KPoitou CCoupaye MGoldstone APH\u00f8ybye CMarkovic TPGrugni G, et al.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. Journal of Clinical Medicine2021105781. 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Acta Paediatrica200190455\u2013459."},{"key":"bib132","series-title":"Medicina","first-page":"460","article-title":"Prader-Willi syndrome with Angelman syndrome in the offspring","volume":"57","author":"Greco","year":"2021","unstructured":"Greco DVetri LRagusa LVinci MGloria AOcchipinti PCostanzo AAQuatrosi GRoccella MBuono S, et al.Prader-Willi syndrome with Angelman syndrome in the offspring. Medicina202157460. (https:\/\/doi.org\/10.3390\/medicina57050460)"},{"key":"bib133","series-title":"Journal of Urology","first-page":"e863","article-title":"MP66-05 testicular histology in infants with Prader-Willi syndrome","volume":"197","author":"Kato","year":"2017","unstructured":"Kato TMizuno KNishio HMoritoki YNakane AKamisawa HKurokawa SMaruyama TYasui T & Hayashi Y. MP66-05 testicular histology in infants with Prader-Willi syndrome. Journal of Urology2017197e863\u2013e864. (https:\/\/doi.org\/10.1016\/j.juro.2017.02.2020)"},{"key":"bib134","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"1649","article-title":"High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome","volume":"93","author":"de Lind van Wijngaarden","year":"2008","unstructured":"de Lind van Wijngaarden RFAOtten BJFesten DAMJoosten KFMde Jong FHSweep FCGJ & Hokken-Koelega ACS. High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism2008931649\u20131654. 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(https:\/\/doi.org\/10.1210\/jc.2010-0647)"},{"key":"bib136","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"dgaa168","article-title":"Central adrenal insufficiency is rare in adults with Prader\u2013Willi syndrome","volume":"105","author":"Rosenberg","year":"2020","unstructured":"Rosenberg AGPellikaan KPoitou CGoldstone APH\u00f8ybye CMarkovic TGrugni GCrin\u00f2 ACaix\u00e0s A & Coupaye M. Central adrenal insufficiency is rare in adults with Prader\u2013Willi syndrome. Journal of Clinical Endocrinology and Metabolism2020105dgaa168."},{"key":"bib137","series-title":"Journal of Pediatric Endocrinology and Metabolism","first-page":"733","article-title":"Central adrenal insufficiency screening with morning plasma cortisol and ACTH levels in Prader-Willi syndrome","volume":"35","author":"Angulo","year":"2022","unstructured":"Angulo MAButler MGHossain WACastro-Magana M & Corletto J. 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Clinical Endocrinology201073546\u2013550. (https:\/\/doi.org\/10.1111\/j.1365-2265.2010.03840.x)"},{"key":"bib145","series-title":"American Journal of Medical Genetics. Part A","first-page":"488","article-title":"Thyroid function studies in Prader-Willi syndrome","volume":"143A","author":"Butler","year":"2007","unstructured":"Butler MGTheodoro M & Skouse JD. Thyroid function studies in Prader-Willi syndrome. American Journal of Medical Genetics. Part A2007143A488\u2013492. 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Maturity onset diabetes of the young in a child with Prader-Willi syndrome. Hormone Research201278(Supplement 1) 162."},{"key":"bib152","series-title":"Clinical Pediatric Endocrinology","first-page":"33","article-title":"Characterization of diabetes mellitus in Japanese Prader-Willi syndrome","volume":"20","author":"Tsuchiya","year":"2011","unstructured":"Tsuchiya TOto YAyabe TObata KMurakami N & Nagai T. Characterization of diabetes mellitus in Japanese Prader-Willi syndrome. Clinical Pediatric Endocrinology20112033\u201338. (https:\/\/doi.org\/10.1297\/cpe.20.33)"},{"key":"bib153","series-title":"Orphanet Journal of Rare Diseases","first-page":"146","article-title":"Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience","volume":"12","author":"Yang","year":"2017","unstructured":"Yang AKim JCho SY & Jin DK. Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience. Orphanet Journal of Rare Diseases201712146. (https:\/\/doi.org\/10.1186\/s13023-017-0702-5)"},{"key":"bib154","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"E225","article-title":"The metabolic phenotype of Prader-Willi syndrome (PWS) in childhood: heightened insulin sensitivity relative to body mass index","volume":"96","author":"Haqq","year":"2011","unstructured":"Haqq AMMuehlbauer MJNewgard CBGrambow S & Freemark M. The metabolic phenotype of Prader-Willi syndrome (PWS) in childhood: heightened insulin sensitivity relative to body mass index. Journal of Clinical Endocrinology and Metabolism201196E225\u2013E232. (https:\/\/doi.org\/10.1210\/jc.2010-1733)"},{"key":"bib155","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"4330","article-title":"Visceral adipose tissue and metabolic complications of obesity are reduced in Prader-Willi syndrome female adults: evidence for novel influences on body fat distribution","volume":"86","author":"Goldstone","year":"2001","unstructured":"Goldstone APThomas ELBrynes AEBell JDFrost GSaeed NHajnal JVHoward JKHolland A & Bloom SR. Visceral adipose tissue and metabolic complications of obesity are reduced in Prader-Willi syndrome female adults: evidence for novel influences on body fat distribution. Journal of Clinical Endocrinology and Metabolism2001864330\u20134338. (https:\/\/doi.org\/10.1210\/jcem.86.9.7814)"},{"key":"bib156","series-title":"Clinical Endocrinology","first-page":"944","article-title":"Altered distribution of adiponectin isoforms in children with Prader-Willi syndrome (PWS): association with insulin sensitivity and circulating satiety peptide hormones","volume":"67","author":"Haqq","year":"2007","unstructured":"Haqq AMMuehlbauer MSvetkey LPNewgard CBPurnell JQGrambow SC & Freemark MS. Altered distribution of adiponectin isoforms in children with Prader-Willi syndrome (PWS): association with insulin sensitivity and circulating satiety peptide hormones. Clinical Endocrinology200767944\u2013951. (https:\/\/doi.org\/10.1111\/j.1365-2265.2007.02991.x)"},{"key":"bib157","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"4","article-title":"Liraglutide for weight management in children and adolescents with Prader-Willi syndrome and obesity","volume":"108","author":"Diene","year":"2022","unstructured":"Diene GAngulo MHale PMJepsen CHHofman PLHokken-Koelega ARamesh CTuran S & Tauber M. Liraglutide for weight management in children and adolescents with Prader-Willi syndrome and obesity. Journal of Clinical Endocrinology and Metabolism20221084\u201312. (https:\/\/doi.org\/10.1210\/clinem\/dgac549)"},{"key":"bib158","series-title":"Cureus","first-page":"e35102","article-title":"Weight loss of over 100 lbs in a patient of Prader-Willi syndrome treated with glucagon-like peptide-1 (GLP-1) agonists","volume":"15","author":"Ahmed","year":"2023","unstructured":"Ahmed SNaz A & K M. Weight loss of over 100 lbs in a patient of Prader-Willi syndrome treated with glucagon-like peptide-1 (GLP-1) agonists. Cureus202315e35102. (https:\/\/doi.org\/10.7759\/cureus.35102)"},{"key":"bib159","series-title":"BMJ","first-page":"1686","article-title":"Glucose monitoring and glucose lowering agents for children and young people with type 2 diabetes: summary of updated NICE guidance","volume":"382","author":"Fou","year":"2023","unstructured":"Fou LAgwu JCAswani NBakhai C & Gevers E. Glucose monitoring and glucose lowering agents for children and young people with type 2 diabetes: summary of updated NICE guidance. BMJ20233821686. 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(https:\/\/doi.org\/10.1297\/cpe.29.81)"},{"key":"bib161","series-title":"Diabetes Therapy","first-page":"421","article-title":"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","volume":"9","author":"Horikawa","year":"2018","unstructured":"Horikawa YEnya MKomagata MHashimoto KIKagami MFukami 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 Therapy20189421\u2013426. (https:\/\/doi.org\/10.1007\/s13300-018-0369-5)"},{"key":"bib162","series-title":"Pediatric Obesity","first-page":"235","article-title":"Non-Alcoholic Fatty Liver Disease (NAFLD) in children and adolescents with Prader-Willi syndrome (PWS)","volume":"11","author":"Fintini","year":"2016","unstructured":"Fintini DInzaghi EColajacomo MBocchini SGrugni GBrufani CCappa MNobili VCianfarani S & Crin\u00f2 A. Non-Alcoholic Fatty Liver Disease (NAFLD) in children and adolescents with Prader-Willi syndrome (PWS). Pediatric Obesity201611235\u2013238. (https:\/\/doi.org\/10.1111\/ijpo.12052)"},{"key":"bib163","series-title":"Obesity Facts","first-page":"71","article-title":"Is non-alcoholic fatty liver disease less frequent among women with Prader-Willi syndrome?","volume":"7","author":"Bedogni","year":"2014","unstructured":"Bedogni GGrugni GNobili VAgosti FSaezza A & Sartorio A. Is non-alcoholic fatty liver disease less frequent among women with Prader-Willi syndrome?Obesity Facts2014771\u201376. (https:\/\/doi.org\/10.1159\/000358570)"},{"key":"bib164","series-title":"Genes (Basel)","article-title":"The global Prader-Willi syndrome registry: development, launch, and early demographics","volume":"10","author":"Bohonowych","year":"2019","unstructured":"Bohonowych JMiller JMcCandless SE & Strong TV. The global Prader-Willi syndrome registry: development, launch, and early demographics. Genes (Basel) 09 14 201910,. (https:\/\/doi.org\/10.3390\/genes10090713)"},{"key":"bib165","series-title":"Orphanet Journal of Rare Diseases","first-page":"64","article-title":"Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome?","volume":"13","author":"Saeves","year":"2018","unstructured":"Saeves RStr\u00f8m FSandvik L & Nordgarden H. Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome?Orphanet Journal of Rare Diseases20181364. (https:\/\/doi.org\/10.1186\/s13023-018-0809-3)"},{"key":"bib166","series-title":"Medicine (Baltimore)","first-page":"e9256","article-title":"Silent aspiration in infants with Prader-Willi syndrome identified by videofluoroscopic swallow study","volume":"96","author":"Salehi","year":"2017","unstructured":"Salehi PStafford HJGlass RPLeavitt ABeck AEMcAfee AAmbartsumyan L & Chen M. Silent aspiration in infants with Prader-Willi syndrome identified by videofluoroscopic swallow study. Medicine (Baltimore)201796e9256. (https:\/\/doi.org\/10.1097\/MD.0000000000009256)"},{"key":"bib167","year":"2019","unstructured":"National Institute for Health and Care Excellence. Gastro-oesophageal reflux disease in children and young people: diagnosis and management.NG1. London, UK: NICE, 2019. (available at: https:\/\/www.nice.org.uk\/guidance\/ng1)"},{"key":"bib168","series-title":"Pediatrics","first-page":"398","article-title":"Prader-Willi syndrome: consensus diagnostic criteria","volume":"91","author":"Holm","year":"1993","unstructured":"Holm VACassidy SBButler MGHanchett JMGreenswag LRWhitman BY & Greenberg F. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics199391398\u2013402. (https:\/\/doi.org\/10.1542\/peds.91.2.398)"},{"key":"bib169","series-title":"Journal of Pediatric Gastroenterology and Nutrition","first-page":"272","article-title":"Gastric rupture and necrosis in Prader-Willi syndrome","volume":"45","author":"Stevenson","year":"2007","unstructured":"Stevenson DAHeinemann JAngulo MButler MGLoker JRupe NKendell PCassidy SB & Scheimann A. Gastric rupture and necrosis in Prader-Willi syndrome. Journal of Pediatric Gastroenterology and Nutrition200745272\u2013274. (https:\/\/doi.org\/10.1097\/MPG.0b013e31805b82b5)"},{"key":"bib170","series-title":"American Journal of Medical Genetics. Part A","first-page":"384","article-title":"Subclinical dysphagia in persons with Prader-Willi syndrome","volume":"173","author":"Gross","year":"2017","unstructured":"Gross RDGisser RCherpes GHartman K & Maheshwary R. Subclinical dysphagia in persons with Prader-Willi syndrome. American Journal of Medical Genetics. Part A2017173384\u2013394. (https:\/\/doi.org\/10.1002\/ajmg.a.38015)"},{"key":"bib171","series-title":"Annals of Nutrition and Metabolism","first-page":"264","article-title":"Eating behavior and gastric emptying in adults with Prader-Willi syndrome","volume":"51","author":"Hoybye","year":"2007","unstructured":"Hoybye CBarkeling BNaslund EThor\u00e9n M & Hellstrom PM. Eating behavior and gastric emptying in adults with Prader-Willi syndrome. Annals of Nutrition and Metabolism200751264\u2013269. 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(https:\/\/doi.org\/10.1002\/(sici)1096-8628(19971231)73:4<437::aid-ajmg12>3.0.co;2-s)"},{"key":"bib175","series-title":"Journal of Intellectual Disability Research","first-page":"411","article-title":"Medical, psychological and social features in a large cohort of adults with Prader\u2013Willi syndrome: experience from a dedicated centre in France","volume":"59","author":"Laurier","year":"2015","unstructured":"Laurier VLapeyrade ACopet PDemeer GSilvie MBieth ECoupaye MPoitou CLorenzini FLabrousse F, et al.Medical, psychological and social features in a large cohort of adults with Prader\u2013Willi syndrome: experience from a dedicated centre in France. Journal of Intellectual Disability Research201559411\u2013421. (https:\/\/doi.org\/10.1111\/jir.12140)"},{"key":"bib176","series-title":"BMC Gastroenterology","first-page":"63","article-title":"A descriptive study of colorectal function in adults with Prader-Willi syndrome: high prevalence of constipation","volume":"14","author":"Kuhlmann","year":"2014","unstructured":"Kuhlmann LJoensson IMFroekjaer JBKrogh K & Farholt S. A descriptive study of colorectal function in adults with Prader-Willi syndrome: high prevalence of constipation. BMC Gastroenterology20141463. (https:\/\/doi.org\/10.1186\/1471-230X-14-63)"},{"key":"bib177","year":"2017","unstructured":"National Institute for Health and Care Excellence. Constipation in children and young people: diagnosis and management.CG99. London, UK: NICE,2017. (available at: https:\/\/www.nice.org.uk\/guidance\/cg99)"},{"key":"bib178","series-title":"Annals of the New York Academy of Sciences","first-page":"125","article-title":"Salivary abnormalities in Prader-Willi syndrome","volume":"842","author":"Hart","year":"1998","unstructured":"Hart PS. Salivary abnormalities in Prader-Willi syndrome. Annals of the New York Academy of Sciences1998842125\u2013131. (https:\/\/doi.org\/10.1111\/j.1749-6632.1998.tb09640.x)"},{"key":"bib179","series-title":"BMC Ophthalmology","first-page":"296","article-title":"Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi syndrome Registry","volume":"21","author":"Bohonowych","year":"2021","unstructured":"Bohonowych JEVrana-Diaz CJMiller JLMcCandless SE & Strong TV. Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi syndrome Registry. BMC Ophthalmology202121296. (https:\/\/doi.org\/10.1186\/s12886-021-02057-4)"},{"key":"bib180","series-title":"Clinical Anatomy","first-page":"590","article-title":"Prader\u2013Willi syndrome: a spectrum of anatomical and clinical features","volume":"29","author":"Hurren","year":"2016","unstructured":"Hurren BJ & Flack NAMS. Prader\u2013Willi syndrome: a spectrum of anatomical and clinical features. Clinical Anatomy201629590\u2013605. (https:\/\/doi.org\/10.1002\/ca.22686)"},{"key":"bib181","series-title":"Journal of Pediatric Ophthalmology and Strabismus","first-page":"145","article-title":"Ophthalmologic features of Prader-Willi syndrome","volume":"25","author":"Hered","year":"1988","unstructured":"Hered RWRogers SZang YF & Biglan AW. Ophthalmologic features of Prader-Willi syndrome. Journal of Pediatric Ophthalmology and Strabismus198825145\u2013150. (https:\/\/doi.org\/10.3928\/0191-3913-19880501-10)"},{"key":"bib182","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"3763","article-title":"Bone mineral density and effects of growth hormone treatment in prepubertal children with Prader-Willi syndrome: a randomized controlled trial","volume":"94","author":"de Lind van Wijngaarden","year":"2009","unstructured":"de Lind van Wijngaarden RFAFesten DAMOtten BJvan Mil EGAHRotteveel JOdink RJvan Leeuwen MHaring DAJPBocca GMieke Houdijk EC, et al.Bone mineral density and effects of growth hormone treatment in prepubertal children with Prader-Willi syndrome: a randomized controlled trial. Journal of Clinical Endocrinology and Metabolism2009943763\u20133771. (https:\/\/doi.org\/10.1210\/jc.2009-0270)"},{"key":"bib183","series-title":"European Journal of Endocrinology","first-page":"773","article-title":"Bone mineral density during 3 years of growth hormone in previously GH-treated young adults with PWS","volume":"184","author":"Damen","year":"2021","unstructured":"Damen LGrootjen LNDonze SHde Graaff LCGvan der Velden JAEM & Hokken-Koelega ACS. Bone mineral density during 3 years of growth hormone in previously GH-treated young adults with PWS. European Journal of Endocrinology2021184773\u2013782. (https:\/\/doi.org\/10.1530\/EJE-20-1335)"},{"key":"bib184","series-title":"Journal of Bone and Mineral Research","first-page":"172","article-title":"Amalgamated reference data for size-adjusted bone densitometry measurements in 3598 children and young adults\u2014the Alphabet study","volume":"32","author":"Crabtree","year":"2017","unstructured":"Crabtree NJShaw NJBishop NJAdams JEMughal MZArundel PFewtrell MSAhmed SFTreadgold LAH\u00f6gler W, et al.Amalgamated reference data for size-adjusted bone densitometry measurements in 3598 children and young adults\u2014the Alphabet study. Journal of Bone and Mineral Research201732172\u2013180. (https:\/\/doi.org\/10.1002\/jbmr.2935)"},{"key":"bib185","series-title":"Journal of Pediatric Orthopedics","first-page":"e362","article-title":"Comparison of hip and knee arthroplasty rates of individuals with and without Prader-Willi syndrome","volume":"40","author":"van Bosse","year":"2020","unstructured":"van Bosse HJPGantz MGOng KL & Cox JB. Comparison of hip and knee arthroplasty rates of individuals with and without Prader-Willi syndrome. Journal of Pediatric Orthopedics202040e362\u2013e366. (https:\/\/doi.org\/10.1097\/BPO.0000000000001490)"},{"key":"bib186","series-title":"Genes (Basel)","article-title":"Clinical observations and treatment approaches for scoliosis in Prader-Willi syndrome","volume":"11","author":"van Bosse","year":"2020","unstructured":"van Bosse HJP & Butler MG. Clinical observations and treatment approaches for scoliosis in Prader-Willi syndrome. Genes (Basel)202011. 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Task-switching deficits and repetitive behaviour in genetic neurodevelopmental disorders: data from children with Prader-Willi syndrome chromosome 15 q11-q13 deletion and boys with fragile X syndrome. Cognitive Neuropsychology200926172\u2013194. (https:\/\/doi.org\/10.1080\/02643290802685921)"},{"key":"bib193","series-title":"Journal of Intellectual Disability Research","first-page":"172","article-title":"Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome","volume":"48","author":"Whittington","year":"2004","unstructured":"Whittington JHolland AWebb TButler JClarke D & Boer H. Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome. Journal of Intellectual Disability Research200448172\u2013187. 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Cham, Switzerland: Springer, 2022."},{"key":"bib199","series-title":"Journal of Communication Disorders","first-page":"193","article-title":"Expressive and receptive language in Prader-Willi syndrome: report on genetic subtype differences","volume":"46","author":"Dimitropoulos","year":"2013","unstructured":"Dimitropoulos AFerranti A & Lemler M. Expressive and receptive language in Prader-Willi syndrome: report on genetic subtype differences. Journal of Communication Disorders201346193\u2013201. (https:\/\/doi.org\/10.1016\/j.jcomdis.2012.12.001)"},{"key":"bib200","series-title":"Journal of Pediatric Endocrinology and Metabolism","first-page":"879","article-title":"Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study","volume":"32","author":"Corripio","year":"2019","unstructured":"Corripio RTubau CCalvo LBrun CCapdevila NLarramona H & Gabau E. Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study. Journal of Pediatric Endocrinology and Metabolism201932879\u2013884. (https:\/\/doi.org\/10.1515\/jpem-2018-0539)"},{"key":"bib201","series-title":"American Journal of Medical Genetics. Part A","first-page":"449","article-title":"Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects","volume":"143A","author":"Butler","year":"2007","unstructured":"Butler MGTheodoro MFBittel DC & Donnelly JE. Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects. American Journal of Medical Genetics. Part A2007143A449\u2013459. 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Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review. Psychiatric Genetics200515243\u2013254. (https:\/\/doi.org\/10.1097\/00041444-200512000-00006)"},{"key":"bib206","series-title":"American Journal of Medical Genetics. Part A","first-page":"2936","article-title":"Autism spectrum disorder in Prader\u2013Willi syndrome: a systematic review","volume":"167A","author":"Bennett","year":"2015","unstructured":"Bennett JAGermani THaqq AM & Zwaigenbaum L. Autism spectrum disorder in Prader\u2013Willi syndrome: a systematic review. American Journal of Medical Genetics. Part A2015167A2936\u20132944. (https:\/\/doi.org\/10.1002\/ajmg.a.37286)"},{"key":"bib207","series-title":"Current Opinion in Genetics and Development","first-page":"229","article-title":"Genetic architecture in autism spectrum disorder","volume":"22","author":"Devlin","year":"2012","unstructured":"Devlin B & Scherer SW. Genetic architecture in autism spectrum disorder. 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(https:\/\/doi.org\/10.1002\/ajmg.a.36615)"},{"key":"bib209","series-title":"European Journal of Medical Genetics","first-page":"104064","article-title":"Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome","volume":"63","author":"Roux-Levy","year":"2020","unstructured":"Roux-Levy P-HBournez MMasurel AJean NChancenotte SBordes MDebomy FMinot DSchmitt EVinault S, et al.Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome. European Journal of Medical Genetics202063104064. 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Developing an understanding of skin picking in people with Prader-Willi syndrome: a structured literature review and re-analysis of existing data. Neuroscience and Biobehavioral Reviews202011248\u201361. (https:\/\/doi.org\/10.1016\/j.neubiorev.2020.01.029)"},{"key":"bib214","series-title":"American Journal of Medical Genetics. Part A","first-page":"421","article-title":"An open-label pilot study of N-acetylcysteine for skin-picking in Prader\u2013Willi syndrome","volume":"164A","author":"Miller","year":"2014","unstructured":"Miller JL & Angulo M. An open-label pilot study of N-acetylcysteine for skin-picking in Prader\u2013Willi syndrome. American Journal of Medical Genetics. Part A2014164A421\u2013424. 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(https:\/\/doi.org\/10.1007\/s12020-022-03064-1)"},{"key":"bib219","series-title":"Journal of Child and Adolescent Psychopharmacology","first-page":"313","article-title":"Guanfacine extended release for the reduction of aggression, attention-deficit\/hyperactivity disorder symptoms, and self-injurious behavior in Prader-Willi syndrome-a retrospective cohort study","volume":"29","year":"2019","unstructured":"Singh DWakimoto YFilangieri CPinkhasov A & Angulo M.Guanfacine extended release for the reduction of aggression, attention-deficit\/hyperactivity disorder symptoms, and self-injurious behavior in Prader-Willi syndrome-a retrospective cohort study. Journal of Child and Adolescent Psychopharmacology201929313\u2013317. (https:\/\/doi.org\/10.1089\/cap.2018.0102)"},{"key":"bib220","series-title":"Journal of Pediatric Gastroenterology and Nutrition","first-page":"59","article-title":"Rectal picking masquerading as inflammatory bowel disease in Prader-Willi syndrome","volume":"67","author":"Salehi","year":"2018","unstructured":"Salehi PLee DAmbartsumyan LSikka N & Scheimann AO. Rectal picking masquerading as inflammatory bowel disease in Prader-Willi syndrome. Journal of Pediatric Gastroenterology and Nutrition20186759\u201363. (https:\/\/doi.org\/10.1097\/MPG.0000000000001937)"},{"key":"bib221","series-title":"PLoS One","first-page":"e0223750","article-title":"Transcutaneous vagus nerve stimulation (t-VNS): a novel effective treatment for temper outbursts in adults with Prader-Willi syndrome indicated by results from a non-blind study","volume":"14","author":"Manning","year":"2019","unstructured":"Manning KEBeresford-Webb JAAman LCSRing HAWatson PCPorges SWOliver CJennings SR & Holland AJ. Transcutaneous vagus nerve stimulation (t-VNS): a novel effective treatment for temper outbursts in adults with Prader-Willi syndrome indicated by results from a non-blind study. PLoS One201914e0223750. (https:\/\/doi.org\/10.1371\/journal.pone.0223750)"},{"key":"bib222","year":"2015","unstructured":"National Institute for Health and Care Excellence. Challenging behaviour and learning disabilities: prevention and interventions for people with learning disabilities whose behaviour challenges.NG11. London, UK: NICE, 2015. (available at: https:\/\/www.nice.org.uk\/guidance\/ng11)"},{"key":"bib223","article-title":"Mothersole: prevention of future deaths report. Coroner's Report","year":"2024","unstructured":"Wood C.KerriMothersole: prevention of future deaths report. Coroner's Report. London, UK: Courts and Tribunals Judiciary, 2024. (available at: https:\/\/www.judiciary.uk\/prevention-of-future-death-reports\/kerri-mothersole-prevention-of-future-deaths-report\/)"},{"key":"bib224","series-title":"Journal of Intellectual Disability Research","first-page":"188","article-title":"Academic underachievement by people with Prader-Willi syndrome","volume":"48","author":"Whittington","year":"2004","unstructured":"Whittington JHolland AWebb TButler JClarke D & Boer H. Academic underachievement by people with Prader-Willi syndrome. Journal of Intellectual Disability Research200448188\u2013200. (https:\/\/doi.org\/10.1111\/j.1365-2788.2004.00473.x)"},{"key":"bib225","year":"2014","unstructured":"Department for Education. Children with special educational needs2014: an analysis. London, UK: Department for Education. (available at: https:\/\/assets.publishing.service.gov.uk\/media\/5a7ec0fbed915d74e6226406\/SFR31_2014.pdf)"},{"key":"bib226","article-title":"Educational considerations for children with Prader-Willi syndrome.","author":"Chedd","year":"2006","unstructured":"Chedd NLevine K & Wharton RH. Educational considerations for children with Prader-Willi syndrome. In Management of Prader-Willi Syndrome, pp302\u2013316. Butler MGLee PDK & Whitman BY, Eds. New York, NY, USA: Springer, 2006. (https:\/\/doi.org\/10.1007\/978-0-387-33536-0_11)"},{"key":"bib227","series-title":"Journal of Intellectual Disability Research","first-page":"32","article-title":"The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment","volume":"51","author":"Soni","year":"2007","unstructured":"Soni SWhittington JHolland AJWebb TMaina EBoer H & Clarke D. The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment. Journal of Intellectual Disability Research20075132\u201342. (https:\/\/doi.org\/10.1111\/j.1365-2788.2006.00895.x)"},{"key":"bib228","series-title":"Psychological Medicine","first-page":"1505","article-title":"The phenomenology and diagnosis of psychiatric illness in people with Prader-Willi syndrome","volume":"38","author":"Soni","year":"2008","unstructured":"Soni SWhittington JHolland AJWebb TMaina ENBoer H & Clarke D. The phenomenology and diagnosis of psychiatric illness in people with Prader-Willi syndrome. Psychological Medicine2008381505\u20131514. (https:\/\/doi.org\/10.1017\/S0033291707002504)"},{"key":"bib229","series-title":"European Journal of Pediatrics","first-page":"9","article-title":"Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature","volume":"175","author":"Bonnot","year":"2016","unstructured":"Bonnot OCohen DThuilleaux DConsoli ACabal S & Tauber M. Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature. European Journal of Pediatrics20161759\u201318. (https:\/\/doi.org\/10.1007\/s00431-015-2670-x)"},{"key":"bib230","year":"2016","unstructured":"National Institute for Health and Care Excellence. Mental health problems in people with learning disabilities: prevention, assessment and management.NG54. London, UK: NICE, 2016. (available at: https:\/\/www.nice.org.uk\/guidance\/ng54)"},{"key":"bib231","series-title":"Lancet","first-page":"135","article-title":"Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy","volume":"359","author":"Boer","year":"2002","unstructured":"Boer HHolland AWhittington JButler JWebb T & Clarke D. Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet2002359135\u2013136. (https:\/\/doi.org\/10.1016\/S0140-6736(0207340-3)"},{"key":"bib232","series-title":"Psychological Medicine","first-page":"2431","article-title":"A longitudinal follow-up study of people with Prader\u2013Willi syndrome with psychosis and those at increased risk of developing psychosis due to genetic subtype","volume":"44","author":"Larson","year":"2014","unstructured":"Larson FVWhittington JWebb T & Holland AJ. A longitudinal follow-up study of people with Prader\u2013Willi syndrome with psychosis and those at increased risk of developing psychosis due to genetic subtype. Psychological Medicine2014442431\u20132435. (https:\/\/doi.org\/10.1017\/S0033291713002961)"},{"key":"bib233","series-title":"Neuropsychiatric Disease and Treatment","first-page":"107","article-title":"Clinical management of behavioral characteristics of Prader-Willi syndrome","volume":"6","author":"Ho","year":"2010","unstructured":"Ho AY & Dimitropoulos A. Clinical management of behavioral characteristics of Prader-Willi syndrome. Neuropsychiatric Disease and Treatment20106107\u2013118. (https:\/\/doi.org\/10.2147\/ndt.s5560)"},{"key":"bib234","series-title":"Journal of Intellectual Disability Research","first-page":"861","article-title":"The impact of P rader\u2013W illi syndrome on the family's quality of life and caregiving, and the unaffected siblings\u2019 psychosocial adjustment","volume":"57","author":"Mazaheri","year":"2013","unstructured":"Mazaheri MMRae-Seebach RDPreston HESchmidt MKountz-Edwards SField NCassidy S & Packman W. The impact of P rader\u2013W illi syndrome on the family's quality of life and caregiving, and the unaffected siblings\u2019 psychosocial adjustment. Journal of Intellectual Disability Research201357861\u2013873. (https:\/\/doi.org\/10.1111\/j.1365-2788.2012.01634.x)"},{"key":"bib235","series-title":"Journal of Intellectual and Developmental Disability","first-page":"165","article-title":"Maternal parenting stress in families with a child with Angelman syndrome or Prader\u2013Willi syndrome","volume":"35","author":"Wulffaert","year":"2010","unstructured":"Wulffaert JScholte EM & Van Berckelaer-Onnes IA. Maternal parenting stress in families with a child with Angelman syndrome or Prader\u2013Willi syndrome. Journal of Intellectual and Developmental Disability201035165\u2013174. (https:\/\/doi.org\/10.3109\/13668250.2010.499101)"},{"key":"bib236","series-title":"PLoS One","first-page":"e0194655","article-title":"High levels of caregiver burden in Prader-Willi syndrome","volume":"13","author":"Kayadjanian","year":"2018","unstructured":"Kayadjanian NSchwartz LFarrar EComtois KA & Strong TV. High levels of caregiver burden in Prader-Willi syndrome. PLoS One201813e0194655. 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Long-term weight control in adults with Prader-Willi syndrome living in residential hostels. American Journal of Medical Genetics. Part A20211851175\u20131181. (https:\/\/doi.org\/10.1002\/ajmg.a.62101)"},{"key":"bib239","series-title":"In orphananesthesia. Heidelberg, Germany: German Society of Anaesthesiology and Intensive Care Medicine,","article-title":"Anaesthesia recommendations for Prader-Willi syndrome.","author":"Rakow","year":"2020","unstructured":"Rakow H. Anaesthesia recommendations for Prader-Willi syndrome.In orphananesthesia. Heidelberg, Germany: German Society of Anaesthesiology and Intensive Care Medicine,2020. 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