Results 1 to 10 of about 11,886 (115)

Oxytocin in infants with Prader-Willi syndrome to improve dysphagia and disease trajectory [PDF]

Orphanet Journal of Rare Diseases
Objective Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder with a characteristic trajectory. Infants display hypotonia, poor social and feeding skills, and high risk of choking, which have been shown to improve after oxytocin (OT ...
Maithe Tauber, Gwenaelle Diene, Pascale Fichaux-Bourin, Graziella Pinto, Iva Gueorguieva, Marc Nicolino, Rachel Reynaud, Delphine Bernoux, Veronique Beauloye, Elin Malek Abrahimians, Cordula Kiewert, Pierre Payoux, Sophie Cabal, Catherine Molinas, Melanie Glattard, Sylvie Viaux-Savelon, Antoine Guedeney, David Cohen, Catherine Arnaud, Marion Valette   +19 more
doaj   +2 more sources

What underlies emotion regulation abilities? An innovative programme based on an integrative developmental approach to improve emotional competencies: Promising results in children with Prader–Willi syndrome

Frontiers in Psychiatry, 2022
BackgroundThis study aimed to test the effect of a new training programme on emotional competencies, named EMO-T, and to show the value of an integrative developmental approach.
Nawelle Famelart, Gwenaelle Diene, Sophie Çabal-Berthoumieu, Mélanie Glattard, Catherine Molinas, Maithe Tauber, Maithe Tauber, Michèle Guidetti   +7 more
doaj   +1 more source

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

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

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

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

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

Age of diagnosis for children with chromosome 15q syndromes

Journal of Neurodevelopmental Disorders, 2023
Objective The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome ...
Anne C. Wheeler, Marie G. Gantz, Heidi Cope, Theresa V. Strong, Jessica E. Bohonowych, Amanda Moore, Vanessa Vogel-Farley   +6 more
doaj   +1 more source

Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome

Orphanet Journal of Rare Diseases, 2021
Background Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction leading to obesity and behavioral disabilities, including eating disorders (EDs).
Helena Mosbah, Muriel Coupaye, Flavien Jacques, Maithé Tauber, Karine Clément, Jean-Michel Oppert, Christine Poitou   +6 more
doaj   +1 more source

Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patients

Orphanet Journal of Rare Diseases, 2021
Background Patients with Prader-Willi syndrome (PWS) often have comorbidities, especially obesity, that may constitute a risk factor for severe forms of COVID-19.
Muriel Coupaye, Virginie Laurier, Grégoire Benvegnu, Christine Poitou, Pauline Faucher, Héléna Mosbah, Gwenaelle Diene, Graziella Pinto, Laura González Briceño, Christine Merrien, Ana Camarena Toyos, Emilie Montastier, Maithé Tauber, Fabien Mourre   +13 more
doaj   +1 more source