Results 1 to 10 of about 24,669 (243)

Prader-Willi syndrome

Journal of Obstetric, Gynecologic & Neonatal Nursing, 1989
Prader-Willi Syndrome (PWS) is a relatively common complex genetic disorder that is diagnostically and therapeutically challenging to health-care professionals. Nursing observations of significant neonatal feeding problems may assist in identification of the infant with PWS.
Suzanne B. Cassidy, Stuart Schwartz, Jennifer L. Miller, Daniel J. Driscoll   +3 more
semanticscholar   +5 more sources

Epigenetics in Prader-Willi Syndrome [PDF]

Frontiers in Genetics, 2021
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder that affects approximately 1 in 20,000 individuals worldwide. Symptom progression in PWS is classically characterized by two nutritional stages.
Aron Judd P. Mendiola, J. LaSalle
semanticscholar   +6 more sources

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

Current Pediatric Reviews, 2019
Background Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherited from the paternal chromosome 15q11-q13 region usually from paternal 15q11-q13 deletions (about 60%) or maternal ...
Jennifer L Miller
exaly   +2 more sources

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

Prader-Willi Syndrome [PDF]

Archives of Pediatrics & Adolescent Medicine, 1984
Sir .—The authors Pauli et al, 1 in their article on the Prader-Willi syndrome, mentioned that there is abundant evidence suggesting that a deletion in chromosome 15 is probably the cause of this syndrome complex. While the authors cited many references accurately, they neglected to mention that the remaining patients, who have been diagnosed as having
R H, Wu, J, Hasen
openaire   +5 more sources

Síndrome de Prader-Willi/ Prader-Willi syndrome [PDF]

Brazilian Journal of Health Review, 2021
INTRODUÇÃO: A Síndrome de Prader-Willi é um raro distúrbio genético causado pela perda de uma parte do cromossomo 15 paterno, podendo gerar diversos problemas ao paciente, como, hipotonia, hiporreflexia, letargia, dificuldade de sucção, entre outros. OBJETIVOS: Este estudo tem como objetivo demonstrar a variedade de apresentações clínicas da síndrome ...
Goulart, Karollyne Campos Ferreira, Golinelli, Erasmo Henrique Rezende, Fernandes, Luiza Castro, Coutinho, Ana Claudia do Nascimento, Pedrini, Isabella Freire, Silva, Haiana Coelho Rocha, Xavier, João Victor Alves, Campos, Luisa, Souza, Luisa Campos de, Barcelos, Luisa Freire, Maciel, Luiz Henrique Alves, Damasceno, Marcela Macedo Marques   +11 more
openaire   +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

Obesity in Prader–Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches

Journal of Endocrinological Investigation, 2021
Prader–Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. The three main genetic subtypes are represented by paternal 15q11-q13 deletion, maternal uniparental ...
G. Muscogiuri, L. Barrea, F. Faggiano, M. Maiorino, M. Parrillo, G. Pugliese, R. Ruggeri, E. Scarano, S. Savastano, A. Colao   +9 more
semanticscholar   +1 more source

Prader–Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review

International Journal of Molecular Sciences, 2023
Prader–Willi syndrome (PWS) is a complex genetic disorder with three PWS molecular genetic classes and presents as severe hypotonia, failure to thrive, hypogonadism/hypogenitalism and developmental delay during infancy. Hyperphagia, obesity, learning and
M. Butler
semanticscholar   +1 more source

Clinical Trials in Prader–Willi Syndrome: A Review

International Journal of Molecular Sciences, 2023
Prader–Willi syndrome (PWS) is a complex, genetic, neurodevelopmental disorder. PWS has three molecular genetic classes. The most common defect is due to a paternal 15q11-q13 deletion observed in about 60% of individuals.
R. Mahmoud, V. Kimonis, M. Butler
semanticscholar   +1 more source