Results 11 to 20 of about 24,669 (243)

Reducing global health inequalities for a rare disorder: evaluating the international Prader–Willi Syndrome Organisation’s Echo® programme

Orphanet Journal of Rare Diseases, 2022
Background People with rare disorders face significant global health inequalities; the challenge is how to raise awareness and develop a nucleus of experts in a country who are then able to provide guidance to others in that country.
Tanzil Rujeedawa, Nora McNairney, Shelly Cordner, James O’Brien, Georgina Loughnan, Anthony Holland   +5 more
doaj   +1 more source

Liraglutide for Weight Management in Children and Adolescents With Prader–Willi Syndrome and Obesity

Journal of Clinical Endocrinology and Metabolism, 2022
Context Prader–Willi syndrome (PWS) is characterized by lack of appetite control and hyperphagia, leading to obesity. Pharmacological options for weight management are needed.
G. Diene, M. Angulo, P. M. Hale, C. H. Jepsen, P. Hofman, A. Hokken-Koelega, Chethana Ramesh, S. Turan, M. Tauber   +8 more
semanticscholar   +1 more source

Acute stress response of the HPA-axis in children with Prader-Willi syndrome: new insights and consequences for clinical practice

Frontiers in Endocrinology, 2023
BackgroundPrader-Willi syndrome (PWS) is associated with hypothalamic dysfunction. It has been reported that the HPA axis might show a delayed response during acute stress, and it is unknown whether the response of the HPA-axis during acute stress ...
Lionne N. Grootjen, Lionne N. Grootjen, Lionne N. Grootjen, Gerthe F. Kerkhof, Gerthe F. Kerkhof, Alicia F. Juriaans, Alicia F. Juriaans, Alicia F. Juriaans, Demi J. Trueba-Timmermans, Demi J. Trueba-Timmermans, Demi J. Trueba-Timmermans, Anita C. S. Hokken-Koelega, Anita C. S. Hokken-Koelega, Anita C. S. Hokken-Koelega   +13 more
doaj   +1 more source

Sleep Consequences of Prader-Willi Syndrome

Current Neurology and Neuroscience Reports, 2023
Purpose of Review This paper reviews how sleep is impacted in patients with Prader-Willi syndrome (PWS), focusing on sleep-related breathing disturbances and excessive daytime sleepiness (EDS).
R. Itani, E. Gillett, I. Perez
semanticscholar   +1 more source

Equivocal expression of emotions in children with Prader-Willi syndrome: what are the consequences for emotional abilities and social adjustment?

Orphanet Journal of Rare Diseases, 2020
Background People with Prader-Willi Syndrome (PWS) experience great difficulties in social adaptation that could be explained by disturbances in emotional competencies.
Nawelle Famelart, Gwenaelle Diene, Sophie Çabal-Berthoumieu, Mélanie Glattard, Catherine Molinas, Michèle Guidetti, Maithe Tauber   +6 more
doaj   +1 more source

Diazoxide Choline Extended-Release Tablet in People with Prader-Willi Syndrome: Results from Long-Term Open-Label Study

Obesity, 2023
This study assessed the effect of 1‐year administration of diazoxide choline extended‐release tablet (DCCR) on hyperphagia and other complications of Prader‐Willi syndrome (PWS).
Jennifer Miller, E. Gevers, Nicola Bridges, Jack A. Yanovski, Parisa Salehi, Kathryn S Obrynba, Eric I Felner, Lynne M. Bird, A. Shoemaker, Moris Angulo, M. G. Butler, David Stevenson, A. P. Goldstone, J. Wilding, Melissa Lah, M. G. Shaikh, Elizabeth Littlejohn, M. Abuzzahab, Amy Fleischman, Patricia Hirano, Kristen Yen, Neil M. Cowen, A. Bhatnagar   +22 more
semanticscholar   +1 more source

Growth hormone treatment for adults with Prader-Willi syndrome: another point of view

Orphanet Journal of Rare Diseases, 2021
Growth hormone treatment for children with Prader Willi syndrome (PWS) has shown proven benefits not only in increasing final height but also with positive effects on body composition and motor development.
Harry J. Hirsch, Varda Gross-Tsur
doaj   +1 more source

Approach to the Patient With Prader–Willi Syndrome

Journal of Clinical Endocrinology and Metabolism, 2022
Prader–Willi syndrome (PWS) is a rare, multisystemic, genetic disorder involving the hypothalamus. It is caused by loss of expression of paternally inherited genes in chromosome 15 q11-13 region. The estimated incidence is around 1 in 20.000 births.
C. Höybye, M. Tauber
semanticscholar   +1 more source

Prader-Willi syndrome [PDF]

Genetics in Medicine, 2011
Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmental delay/mild intellectual disability; short stature; and a distinctive behavioral ...
Suzanne B, Cassidy, Stuart, Schwartz, Jennifer L, Miller, Daniel J, Driscoll   +3 more
openaire   +2 more sources

Reduced pituitary volume with relative T1 shortening correlates with behavior in Prader-Willi syndrome

Biomarkers in Neuropsychiatry, 2021
Prader-Willi syndrome is a complex endocrinological and developmental disorder characterized by hyperphagic, autistic, and obsessive behaviors, which have been considered to primarily originate from hypothalamus-pituitary axis system alterations in the ...
Kenichi Yamada, Masaki Watanabe, Kiyotaka Suzuki   +2 more
doaj   +1 more source