Research & Literature

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.

Angulo MA, Butler MG, Cataletto ME

Journal of endocrinological investigation 2015; (38(12)):1249-63 doi:10.1007/s40618-015-0312-9.

Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.

Butler MG, Manzardo AM, Forster JL

Current pediatric reviews 2016; (12(2)):136-66 doi:10.2174/1573396312666151123115250.

Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe.

López-Bastida J, Linertová R, Oliva-Moreno J, et al.

The European journal of health economics : HEPAC : health economics in prevention and care 2016; (17 Suppl 1()):99-108 doi:10.1007/s10198-016-0788-z.

High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome.

Beauloye V, Diene G, Kuppens R, et al.

Orphanet journal of rare diseases 2016; (11(1)):56 doi:10.1186/s13023-016-0440-0.

Economic burden and health-related quality of life associated with Prader-Willi syndrome in France.

Chevreul K, Berg Brigham K, Clément MC, et al.

Journal of intellectual disability research : JIDR 2016; (60(9)):879-90 doi:10.1111/jir.12288.

Clinical and Molecular Characterization of Prader-Willi Syndrome.

Sanjeeva GN, Maganthi M, Kodishala H, et al.

Indian journal of pediatrics 2017; (84(11)):815-821 doi:10.1007/s12098-017-2386-1.

Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome.

Aman LCS, Manning KE, Whittington JE, Holland AJ

The lancet. Psychiatry 2018; (5(4)):370-378 doi:10.1016/S2215-0366(18)30009-9.

Bone mineral density in young adults with Prader-Willi syndrome: A randomized, placebo-controlled, crossover GH trial.

Donze SH, Kuppens RJ, Bakker NE, et al.

Clinical endocrinology 2018; (88(6)):806-812 doi:10.1111/cen.13567.

Impact of transitional care on endocrine and anthropometric parameters in Prader-Willi syndrome.

Paepegaey AC, Coupaye M, Jaziri A, et al.

Endocrine connections 2018; (7(5)):663-672 doi:10.1530/EC-18-0089.

Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.

Gold JA, Mahmoud R, Cassidy SB, Kimonis V

American journal of medical genetics. Part A 2018; (176(5)):1161-1165 doi:10.1002/ajmg.a.38679.

Caregiver priorities for endpoints to evaluate treatments for Prader-Willi syndrome: a best-worst scaling.

Tsai JH, Scheimann AO, McCandless SE, et al.

Journal of medical economics 2018; (21(12)):1230-1237 doi:10.1080/13696998.2018.1528980.

Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes.

Mahmoud R, Singh P, Weiss L, et al.

American journal of medical genetics. Part A 2019; (179(1)):29-36 doi:10.1002/ajmg.a.60681.

A rapid and accurate methylation-sensitive high-resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients.

Ribeiro Ferreira I, Darleans Dos Santos Cunha W, Henrique Ferreira Gomes L, et al.

Molecular genetics & genomic medicine 2019; (7(6)):e637 doi:10.1002/mgg3.637.

Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.

Butler MG, Miller JL, Forster JL

Current pediatric reviews 2019; (15(4)):207-244 doi:10.2174/1573396315666190716120925.

Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients.

El-Bassyouni HT, Hassan N, Mahfouz I, et al.

Journal of pediatric genetics 2019; (8(4)):179-186 doi:10.1055/s-0039-1695042.

Current and emerging therapies for managing hyperphagia and obesity in Prader-Willi syndrome: A narrative review.

Tan Q, Orsso CE, Deehan EC, et al.

Obesity reviews : an official journal of the International Association for the Study of Obesity 2020; (21(5)):e12992 doi:10.1111/obr.12992.

IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies.

Germain ND, Levine ES, Chamberlain SJ

Advances in neurobiology 2020; (25()):55-77 doi:10.1007/978-3-030-45493-7_3.

Three years of growth hormone treatment in young adults with Prader-Willi Syndrome previously treated with growth hormone in childhood: Effects on glucose homeostasis and metabolic syndrome.

Damen L, Grootjen LN, Donze SH, et al.

Clinical endocrinology 2020; (93(4)):439-448 doi:10.1111/cen.14274.

[Clinical screening and genetic diagnosis for Prader-Willi syndrome].

Dong GQ, Su YY, Qiu XY, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2020; (22(9)):1001-1006.

Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.

Jeziorny K, Antosik K, Jakiel P, et al.

Genes 2020; (11(11)) doi:10.3390/genes11111283.

Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature.

Hu Y, Xue X, Fu J

Frontiers in pediatrics 2021; (9()):633532 doi:10.3389/fped.2021.633532.

Twenty Years of GH Treatment in Adults with Prader-Willi Syndrome.

Sjöström A, Höybye C

Journal of clinical medicine 2021; (10(12)) doi:10.3390/jcm10122667.

Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.

Kim B, Park Y, Cho SI, et al.

Annals of laboratory medicine 2022; (42(1)):79-88 doi:10.3343/alm.2022.42.1.79.

Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy.

Caudri D, Nixon GM, Nielsen A, et al.

Journal of paediatrics and child health 2022; (58(2)):248-255 doi:10.1111/jpc.15691.

Nutritional phases of Prader-Willi syndrome.

Bravo J P, Pérez P D, Canals Cifuentes A

Andes pediatrica : revista Chilena de pediatria 2021; (92(3)):359-366 doi:10.32641/andespediatr.v92i3.2400.

Subtle Cardiovascular Abnormalities in Prader-Willi Syndrome Might Begin in Young Adulthood.

Kobayashi S, Murakami N, Oto Y, et al.

Internal medicine (Tokyo, Japan) 2021; (60(21)):3377-3384 doi:10.2169/internalmedicine.7073-21.

Sleep-disordered breathing in school-aged children with Prader-Willi syndrome.

Schaefer J, Davey MJ, Nixon GM

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2022; (18(4)):1055-1061 doi:10.5664/jcsm.9788.

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.

Morton SU, Christodoulou J, Costain G, et al.

JAMA neurology 2022; (79(4)):405-413 doi:10.1001/jamaneurol.2022.0067.

Prader-Willi Syndrome: Possibilities of Weight Gain Prevention and Treatment.

Erhardt É, Molnár D

Nutrients 2022; (14(9)) doi:10.3390/nu14091950.

Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.

Yang-Li D, Fei-Hong L, Hui-Wen Z, et al.

Orphanet journal of rare diseases 2022; (17(1)):221 doi:10.1186/s13023-022-02302-z.

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.

Yamada M, Okuno H, Okamoto N, et al.

European journal of medical genetics 2023; (66(2)):104690 doi:10.1016/j.ejmg.2022.104690.

Clinical Trials in Prader-Willi Syndrome: A Review.

Mahmoud R, Kimonis V, Butler MG

International journal of molecular sciences 2023; (24(3)) doi:10.3390/ijms24032150.

Sleep Consequences of Prader-Willi Syndrome.

Itani R, Gillett ES, Perez IA

Current neurology and neuroscience reports 2023; (23(3)):25-32 doi:10.1007/s11910-023-01254-6.

Hyperinsulinemia is a probable trigger for weight gain and hyperphagia in individuals with Prader-Willi syndrome.

Kweh FA, Sulsona CR, Miller JL, Driscoll DJ

Obesity science & practice 2023; (9(4)):383-394 doi:10.1002/osp4.663.

Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review.

van Abswoude DH, Pellikaan K, Nguyen N, et al.

Frontiers in endocrinology 2023; (14()):1168648 doi:10.3389/fendo.2023.1168648.

Differences in spinal postures and mobility among adults with Prader-Willi syndrome, essential obesity, and normal-weight individuals.

Bayartai ME, Luomajoki H, Tringali G, et al.

Frontiers in endocrinology 2023; (14()):1235030 doi:10.3389/fendo.2023.1235030.

Early psychomotor development and growth hormone therapy in children with Prader-Willi syndrome: a review.

Jin YY, Luo FH

European journal of pediatrics 2024; (183(3)):1021-1036 doi:10.1007/s00431-023-05327-z.

Analysis of Hyperphagia Questionnaire for Clinical Trials (HQ-CT) scores in typically developing individuals and those with Prader-Willi syndrome.

Matesevac L, Vrana-Diaz CJ, Bohonowych JE, et al.

Scientific reports 2023; (13(1)):20573 doi:10.1038/s41598-023-48024-5.

The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader-Willi Syndrome in Thai Patients.

Prapasrat C, Onsod P, Korkiatsakul V, et al.

Journal of pediatric genetics 2023; (12(4)):273-279 doi:10.1055/s-0041-1741008.

Mothering a Child With Complexity and Rarity: A Narrative Inquiry Exploring Prader-Willi Syndrome.

Currie G, Estefan A, Caine V

Qualitative health research 2024; (34(8-9)):742-755 doi:10.1177/10497323231225412.

Psychotic illness in people with Prader-Willi syndrome: a systematic review of clinical presentation, course and phenomenology.

Aman LCS, Lester SD, Holland AJ, Fletcher PC

Orphanet journal of rare diseases 2024; (19(1)):69 doi:10.1186/s13023-024-03026-y.

Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management.

Shoemaker A

Diabetes, obesity & metabolism 2024; (26 Suppl 2()):25-33 doi:10.1111/dom.15494.

"Unable to Feed My Hungry Child": Experiences of Mothers Caring for Children With Prader-Willi Syndrome.

Currie G, Estefan A, Caine V

Global qualitative nursing research 2024; (11()):23333936241242929 doi:10.1177/23333936241242929.

Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.

Mim RA, Soorajkumar A, Kosaji N, et al.

Brain and behavior 2024; (14(4)):e3437 doi:10.1002/brb3.3437.

Psychiatric care for people with Prader-Willi syndrome-characteristics, needs and barriers.

Wieting J, Herrmann T, Deest-Gaubatz S, et al.

Journal of applied research in intellectual disabilities : JARID 2024; (37(4)):e13266 doi:10.1111/jar.13266.

Congenital Central Hypoventilation Syndrome and Disorders of Control of Ventilation.

Kasi AS, Perez IA

Clinics in chest medicine 2024; (45(3)):663-673 doi:10.1016/j.ccm.2024.02.018.

Growth hormone treatment in children with Prader-Willi syndrome: safety and effectiveness data from the PATRO Children study.

Lämmer C, Backeljauw P, Tauber M, et al.

Therapeutic advances in endocrinology and metabolism 2024; (15()):20420188241264343 doi:10.1177/20420188241264343.

A review of Prader-Willi syndrome.

Metzler S, Brown GR

JAAPA : official journal of the American Academy of Physician Assistants 2025; (38(2)):e1-e6 doi:10.1097/01.JAA.0000000000000079.

Pharmacological Aspects in the Management of Children and Adolescents with Prader-Willi Syndrome.

Miller J, Berry S, Ismail E

Paediatric drugs 2025; (27(3)):273-281 doi:10.1007/s40272-025-00681-x.

[Sleep disorders in imprinting disorders].

Ivannikova EM, Degtyarevskaya TY, Tarasova NN, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2025; (125(5. Vyp. 2)):75-80 doi:10.17116/jnevro202512505275.

Health outcomes of children with Prader-Willi or Angelman syndromes: a European population-based multicentre study.

Abate MV, Barisic I, Santoro M, et al.

Archives of disease in childhood 2025; (110(11)):899-904 doi:10.1136/archdischild-2025-328786.

Beyond the usual suspects: neonatal presentation of Prader-Willi syndrome.

Suresh Gowdar A, Padhi P, Akhila G

BMJ case reports 2025; (18(9)) doi:10.1136/bcr-2025-267940.

Long-term growth hormone effects in Prader-Willi syndrome: A systematic review and meta-analysis.

Almutadares MN, Gazzaz NM, Alyahyawi NY, et al.

Saudi medical journal 2025; (46(11)):1257-1275 doi:10.15537/smj.2025.46.11.20250118.

An Unusual Diagnostic Journey Through MLPA: From Spinal Muscular Atrophy to a Severe Case of Prader-Willi Syndrome.

Göktaş E, Okur Altındaş B, Tarım H, et al.

Journal of clinical practice and research 2023; (45(5)):528-533 doi:10.14744/cpr.2023.92486.

Experiences and Support Needs of Siblings of Individuals With Prader-Willi Syndrome: An Integrative Systematic Review.

Kamble MW, Dawe J, Bunning K

Journal of applied research in intellectual disabilities : JARID 2026; (39(1)):e70171 doi:10.1111/jar.70171.