Results 191 to 200 of about 24,669 (243)

The Prader-Willi Syndrome

JAMA: The Journal of the American Medical Association, 1984
To the Editor.— Dr Wett's 1 article in A PIECE OF MY MIND did it to my peace of mind. Delay of recognizing the Prader-Willi (PW) syndrome occurs ever so often. The average age when PW syndrome is diagnosed in boys is close to 10 years and older than 10 years in girls. Many cases remain undiagnosed, notably in girls.
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Lymphedema in Prader–Willi syndrome

International Journal of Dermatology, 2008
AbstractA 20‐year‐old woman with Prader–Willi syndrome presented with heaviness and swelling in the lower legs and feet, which had developed after a fall. Lymphoscintigraphy showed a disturbed lymphatic drainage pattern in both lower extremities. Based on the clinical findings and the results of lymphoscintigraphic examination we made the diagnosis of ...
Martijn V, Heitink, Margje, Sinnema, Maurice A M, van Steensel, Connie T R M, Schrander-Stumpel, Jorge, Frank, Leopold M G, Curfs   +5 more
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Bariatric surgery for Prader‐Willi syndrome was ineffective in producing sustainable weight loss: Long term results for up to 10 years

Pediatric obesity, 2020
Obesity control in Prader‐Willi syndrome (PWS) is notoriously difficult. The role of bariatric surgery in PWS remains controversial as long‐term data are lacking.
S. Y. Liu, S. Wong, C. Lam, E. Ng
semanticscholar   +1 more source

Prader–Willi syndrome: an update

Current Opinion in Pulmonary Medicine, 2023
Purpose of review Sleep disorders in Prader–Willi syndrome (PWS) range from respiratory to neurological disorders of sleep. We now recognize the role of excessive daytime sleepiness (present in the infant period and throughout life), and a modified narcolepsy phenotype with or without cataplexy.
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Prader–Willi syndrome

Journal of Paediatrics and Child Health, 1999
Prader–Willi syndrome is a multi system disorder characterized by neonatal hypotonia, later obesity, hyperphagia and mental retardation. It occurs sporadically, either as a result of microdeletion of chromosome 15p (70%) or as a result of maternal disomy of chromosome 15 (30%).
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Prader–Willi syndrome and Angelman syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010
AbstractPrader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the proximal long arm of chromosome 15 are affected. Although the SNORD116 gene cluster has become a prime candidate for PWS, it cannot be excluded that other paternally expressed genes in the chromosomal region 15q11q13 ...
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Articulation in Prader–Willi syndrome

Journal of Communication Disorders, 2002
This study investigated articulation in 13 individuals with Prader-Willi syndrome (PWS), chronological age from 7; 0 to 29; 5, total IQ from 38 to 83. To elicit a speech sample a picture-naming test was used. Pictures were chosen so that, when named correctly, they yield a sample containing instances of all Dutch single speech sounds and clusters in ...
Truus, Defloor, John, Van Borsel, Leopold, Curfs   +2 more
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Hypoglycemia in Prader–Willi syndrome

American Journal of Medical Genetics Part A, 2014
Although mouse models of Prader–Willi syndrome (PWS) suggest that hypoglycemia may be part of this syndrome, review of the literature shows little evidence that it is an issue in humans with PWS. Both adrenal and growth hormone deficiency can be seen in PWS, and both of these hormone deficiencies are associated with increased risk for hypoglycemia.
Rena A, Harrington, David A, Weinstein, Jennifer L, Miller   +2 more
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Hypogonadism in Prader-Willi syndrome

Urology, 1987
Prader-Willi syndrome is characterized by eating abnormalities, infantile hypotonia, obesity, mental retardation, and hypogonadism. The causation of hypogonadism varies. We describe a patient with Prader-Willi syndrome whose hypogonadism is secondary to a hypothalamic defect. Individualization of patients with this syndrome is suggested.
S R, Jaskulsky, N N, Stone
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Coping with Prader-Willi syndrome

Journal of the American Dietetic Association, 2002
Weight- and behavior-control issues are major concerns for parents of a child with Prader-Willi syndrome. However, limited information is available on how families implement the necessary dietary restrictions and the effects of the strategies. This study identified the advice a group of families received regarding weight management, the nutrition ...
Dena L, Goldberg, Christy L, Garrett, Cynthia, Van Riper, William J, Warzak   +3 more
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