Prader-Willi syndrome is a rare genetic disease that affects neurodevelopment in children. It is characterised by major behavioural problems and morbid obesity. Early diagnosis and growth hormone treatment can bring out considerable improvements. However, the outlook for adults remains problematic.
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GH Therapy in Non-Growth Hormone-Deficient Children.
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Research Area for Innovative Therapy in Endocrinology, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy.
Before 1985, growth hormone (GH) was extracted from human pituitaries, and its therapeutic use was limited to children with severe GH deficiency (GHD). The availability of an unlimited amount of recombinant GH (rhGH) allowed for investigating the efficacy of its therapeutic use in a number of conditions other than GHD. Nowadays, patients with Turner syndrome, deficiency, Noonan syndrome, Prader-Willi syndrome, idiopathic short stature, chronic kidney disease, and children born small for gestational age can be treated with rhGH in order to improve adult height.
View Article and Find Full Text PDFAssessment of Quality of Life and Psychological Well-Being in Italian Adult Subjects with Prader-Willi Syndrome Using the Health Survey Short Form and the Psychological General Well-Being Index Questionnaires.
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Experimental Laboratory for Auxo-Endocrinological Research, Istituto Auxologico Italiano, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 28824 Piancavallo-Verbania, Italy.
: Prader-Willi syndrome (PWS) is a rare, genetically determined neurodevelopmental disorder. Individuals with PWS face numerous challenges that significantly impact their psychological well-being and quality of life, ultimately limiting their personal and social functioning. This study aimed to evaluate the quality of life and psychological well-being in a sample of Italian adult patients with PWS compared to an age-matched control group of normal-weight Italian individuals.
View Article and Find Full Text PDFA review of Prader-Willi syndrome.
JAAPA
February 2025
Seth Metzler practices at Salina (Kans.) Family Healthcare Center. Gina R. Brown practices at Choice Medical Clinic in Wichita, Kans. The authors have disclosed no potential conflicts of interest, financial or otherwise.
Prader-Willi syndrome is a rare and complex genetic disorder with multiple physical and behavioral characteristics, affecting endocrine, metabolic, and neurologic systems and producing a plethora of medical complications. Early identification and diagnosis are paramount to providing timely and appropriate interventions to improve patient outcomes. Treatment should focus on neonatal feeding and growth, followed by hormonal therapy for hypothalamic dysfunction, and should then be directed at the prevention and treatment of obesity and obesity-related complications.
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Case Western Reserve University School of Medicine, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
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View Article and Find Full Text PDFSex dimorphic associations of Prader-Willi imprinted gene expressions in umbilical cord with prenatal and postnatal growth in healthy infants.
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Pediatric Endocrinology, Girona Biomedical Research Institute, Hospital Dr. JosepTrueta, 17007, Girona, Spain.
Background: The impact of Prader-Willi syndrome (PWS) domain gene expression on the growth of healthy children is not well understood. This study investigated associations between PWS domain gene expression in umbilical cord tissue and prenatal and postnatal growth, considering potential sex differences.
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