Results 21 to 30 of about 1,183,898 (170)

A study of voice and non-voice processing in Prader-Willi syndrome

Orphanet Journal of Rare Diseases, 2020
Background Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder of genetic origin. It manifests itself in endocrine and cognitive problems, including highly pronounced hyperphagia and severe obesity.
Kuzma Strenilkov, Jimmy Debladis, Juliette Salles, Marion Valette, Carine Mantoulan, Denise Thuilleaux, Virginie Laurier, Catherine Molinas, Pascal Barone, Maïthé Tauber   +9 more
doaj   +1 more source

A 14-year-old male patient with diagnosis of Prader–Willi syndrome in Ethiopia: a case report

Journal of Medical Case Reports, 2023
Background Prader–Willi syndrome is a complex multisystem disorder due to the absent expression of paternally active genes in the Prader–Willi syndrome-critical region on chromosome 15 (15q11.2-q13).
Kibret Enyew Belay, Beza Leulseged Ayalew, Melaku Taye Amogne, Theodros Aberra Alemneh, Tedla Kebede Geletew   +4 more
doaj   +1 more source

Prader–Willi syndrome: Hormone therapies

, 2021
International audiencePrader–Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder linked to the lack of expression of specific maternally imprinted genes located in the chromosomal region 15q11-q13.
Gwenaelle Diene, Diene, Gwenaelle, Maithé Tauber, Tauber, Maithé   +3 more
core   +1 more source

Cognitive and behavioral heterogeneity in genetic syndromes

Jornal de Pediatria, 2014
Objective: this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds.
Luiz F.L. Pegoraro, Carlos E. Steiner, Eloisa H.R.V. Celeri, Claudio E.M. Banzato, Paulo Dalgalarrondo   +4 more
doaj   +5 more sources

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

Endocrine Connections, 2018
Context: The transition of patients with Prader–Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity and cognitive and behavioral disabilities. Objective: To assess
A C Paepegaey, M Coupaye, A Jaziri, F Ménesguen, B Dubern, M Polak, J M Oppert, M Tauber, G Pinto, C Poitou   +9 more
doaj   +1 more source

Baroreflex Dysfunction in Prader Willi Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2016
Prader-Willi syndrome is a classical hypothalamic insufficiency disorder. This syndrome is often associated with cardiovascular morbidity and mortality - which could probably be attributed to autonomic dysfunction.
Manpreet Kaur, Shival Srivastav, Ashok Kumar Jaryal, Kishore Kumar Deepak   +3 more
doaj   +1 more source

Dental Management of Prader-Willi Syndrome in a 7-year-old Girl: A Rare Case Report [PDF]

Journal of South Asian Association of Pediatric Dentistry, 2022
Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by a lack of expression of paternal genes located on chromosome 15q11-q13. Prader-Willi syndrome is characterized by hypothalamic dysfunction.
Mallayya C Hiremath, Srinath Krishnappa, Sahana Srinath, Raja Jayadeva Nayak, Aarcha S Kumar   +4 more
doaj   +1 more source

An Observational Study on Cephalometric Characteristics and Patterns Associated with the Prader–Willi Syndrome: A Structural Equation Modelling and Network Approach

Applied Sciences, 2021
Examining specific patterns of major cranio-facial alterations through cephalometric measurements in order to improve the Prader–Willi (PWS) syndrome diagnostic poses a major challenge of identifying interlinkages between numerous credentials.
Alin Viorel Istodor, Laura-Cristina Rusu, Gratiela Georgiana Noja, Alexandra Roi, Ciprian Roi, Emanuel Bratu, Georgiana Moise, Maria Puiu, Simona Sorina Farcas, Nicoleta Ioana Andreescu   +9 more
doaj   +1 more source

The presentation, course and outcome of COVID-19 infection in people with Prader-Willi syndrome: unexpected findings from an international survey

Orphanet Journal of Rare Diseases, 2022
Background Prader-Willi syndrome (PWS), is a genetically determined neurodevelopmental disorder, associated with intellectual disabilities and a high incidence of obesity, diabetes mellitus, and respiratory disorders.
J. E. Whittington, A. J. Holland, D. J. Driscoll, N. Hodebeck-Stuntebeck, A. Hoctor   +4 more
doaj   +1 more source

Growth hormone therapy in Prader-Willi Syndrome

, 2001
Prader-Willi syndrome (PWS) was originally described less than 50 y ago,1 although reference to children with characteristics of the syndrome are to be found in other literature previous to this.2 Until relatively recently the diagnosis was made upon the
Davies, P.S.W., PSW Davies, Davies, Peter   +2 more
core   +1 more source