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The transition from pediatric to adult care in individuals with Prader-Willi syndrome
Endocrine Connections, 2022 Prader–Willi syndrome (PWS), the most common form of syndromic obesity, is a complex neurodevelopmental genetic disorder including obesity with hyperphagia, endocrine and metabolic disorders and also psychiatric disorders.
Christine Poitou +6 more
doaj +1 more source
Mortality in Prader-Willi Syndrome [PDF]
American Journal on Mental Retardation, 2006 Persons with Prader-Willi syndrome have been known to have a high mortality rate. However, intellectual disability, which usually accompanies Prader-Willi syndrome, is also associated with a higher mortality rate than in the general population. In this study, the death rates in a longitudinal cohort of people with Prader-Willi syndrome are compared ...
Stewart L, Einfeld +5 more
openaire +2 more sources
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 +4 more
doaj +1 more source
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study
Journal of Medical Genetics, 2018 Background Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity.
M. Butler +11 more
semanticscholar +1 more source
A case of adrenal myelolipoma complicated with Prader‐Willi syndrome
IJU Case Reports, 2023 Introduction Prader‐Willi syndrome is a congenital disorder that occurs in one in 10 000–30 000 children and is characterized by obesity, short stature, and intellectual disability.
Toru Inoue +4 more
doaj +1 more source
Prader—Willi syndrome and the hypothalamus [PDF]
Acta Paediatrica, 1997 Dysfunction of various hypothalamic systems may be the basis of a number of symptoms in Prader—Willi syndrome. The often abnormal position of the baby in the uterus at the onset of labour, the high percentage of infants with asphyxia and the high proportion of children born prematurely or post‐maturely may all be related to abnormal fetal hypothalamic ...
openaire +3 more sources
SAGE Open Medicine, 2019 Prader–Willi and Angelman syndromes are often referred to as a sister pair of neurodevelopmental disorders, resulting from different genetic and epigenetic alterations to the same chromosomal region, 15q11-q13.
Iiro Ilmari Salminen +2 more
doaj +1 more source
Do patients with Prader–Willi syndrome have favorable glucose metabolism?
Orphanet Journal of Rare Diseases, 2022 Background In recent years, more studies have observed that patients with Prader–Willi syndrome have lower insulin levels and lower insulin resistance than body mass index-matched controls, which may suggest protected glucose metabolism.
Yanjie Qian +6 more
doaj +1 more source
Obesity management in Prader–Willi syndrome: current perspectives
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2018 Prader–Willi syndrome (PWS) is a complex multisystem disorder due to the absent expression of the paternally active genes in the PWS critical region on chromosome 15 (15q11.2-q13).
A. Crinò +3 more
semanticscholar +1 more source
Clinical Endocrinology, 2020 Prader‐Willi syndrome (PWS) is characterized by hypothalamic dysfunction, hyperphagia and a typical behavioural phenotype, with characteristics of autism spectrum disorder (ASD) like stubbornness, temper tantrums and compulsivity.
L. Damen +7 more
semanticscholar +1 more source