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 +13 more
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Frontiers in Endocrinology, 2023 IntroductionSpinal kinematics/motion are reported to be altered in adolescents and adults with essential obesity, while no information is available in patients with Prader-Willi syndrome so far.
Munkh-Erdene Bayartai +7 more
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Growth hormone therapy in Prader-Willi Syndrome [PDF]
, 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. +2 more
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Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature
Orphanet Journal of Rare Diseases, 2019 Background Faces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognitive and behavioural difficulties ...
Jimmy Debladis +8 more
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Experience of severe desaturation during anesthetic induction period in an obese adult patient with Prader-Willi syndrome -A case report- [PDF]
Korean Journal of Anesthesiology, 2012 Prader-Willi syndrome is characterized by infantile hypotonia, childhood-onset obesity, short stature, mental retardation, hyperphagia, hypogonadism. After infantile hypotonia phase, patient is prone to morbid obesity due to hyperphagia.
Joon Woo Choi +5 more
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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 +9 more
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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 +4 more
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Influence of Naltrexone/Bupropion Combination Treatment on Body Mass Index in Prader–Willi Syndrome Re: “Prader–Willi Syndrome, Management of Impulsivity, and Hyperphagia in an Adolescent” by Puri et al. (J Child Adolesc Psychopharmacol 26:403–404, 2016) [PDF]
, 2016 We read with interest the case report by Puri et al. (2016) describing a 13-year-old girl with Prader–Willi syndrome (PWS) treated for 6 weeks with a naltrexone/bupropion combination (Contrave) to target impulsivity, inattention, physical aggression, and
Hor, Amanda, Purtell, Louise
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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 +4 more
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Special Issue: Genetics of Prader–Willi Syndrome [PDF]
, 2021 This Special Issue includes 15 peer-reviewed articles for publication by experts in Prader–Willi syndrome (PWS) and their reflective area of interest impacting this rare disorder [...
David E. Godler, Merlin G. Butler
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