Unlabelled: Patients with Prader-Willi syndrome often suffer from scoliosis of major degrees. Due to current literature surgical intervention seems the gold standard of treatment although the rate of complications in this condition are reported to be significantly higher than in patients with Adolescent Idiopathic Scoliosis. Purpose of this study was to reveal the effects of conservative treatment in this rare patient population.
Materials And Methods: A case series of patients with this condition has been investigated to estimate as to whether Prader-Willi patients with scoliosis may benefit from conservative scoliosis management. 9 Patients with this condition have been found in our out-patient database. 5 of these retarded patients (3 girls, two boys) today are 19 years and older and therefore are without any significant residual growth. Average Cobb angle was 47 degrees (34 - 66 degrees) at 12 years, average observation time was 6.4 years.
Results: Two of the five patients progressed. Average Cobb angle after follow-up was 52 degrees. No progression beyond 70 degrees has been found after cessation of growth. In one patient the curve deteriorated clearly after reducing brace wearing time and therefore was due to non-compliance.
Conclusions: Stabilisation of scoliosis due to Prader-Willi syndrome is possible by means of conservative management. To expose this patient population to the risks of surgical management seems not to be justified.
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Vitam Horm
January 2025
Clinical Research Center, Murayama Medical Center, Musashimurayama, Japan.
The hypothalamus is the gray matter of the ventral portion of the diencephalon. The hypothalamus is the higher center of the autonomic nervous system and is involved in the regulation of various homeostatic mechanisms. It also modulates respiration by facilitating the respiratory network.
View Article and Find Full Text PDFChildren (Basel)
December 2024
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 PDFHealthcare (Basel)
January 2025
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 PDFJAAPA
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.
View Article and Find Full Text PDFSpine Deform
January 2025
Case Western Reserve University School of Medicine, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
Purpose: Early onset scoliosis (EOS) has traditionally been an indication for MRI because of its association with neural axis abnormalities (NAAs). Because these abnormalities are often clinically silent and concerns regarding sedation in young children are growing, routine MRI for EOS is debated. This study investigates the current practices of EOS MRI screening among surgeons in the Pediatric Spine Study Group (PSSG).
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