Prader-Willi Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Prader-Willi Syndrome, including details on pws, symptoms, treatment, causes.

High Prevalence of Central Adrenal Insufficiency in Patients with Prader-Willi Syndrome.

de Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, Hokken-Koelega AC

Clinical Research Fellow, Dutch Growth Research Foundation and Erasmus University Medical Center/Sophia Children’s Hospital, Westzeedijk 106, 3016 AH Rotterdam, The Netherlands. r.delindvanwijngaarden@erasmusmc.nl.

Context: The annual death rate of Prader-Willi syndrome (PWS) patients is very high (3%). Many of these deaths are sudden and unexplained. Objective: Because most deaths occur during moderate infections and PWS patients suffer from various hypothalamic insufficiencies, we investigated whether PWS patients suffer from central adrenal insufficiency (CAI) during stressful conditions. Design: Overnight single-dose metyrapone tests were performed. Metyrapone (30 mg/kg) was administered at 2330 h. At 0400, 0600, and 0730 h, ACTH, 11-deoxycortisol, cortisol, and glucose levels were measured. Diurnal salivary cortisol profiles were assessed on a different day at wake-up, 30 min after wake-up, at 1400 h, and at 2000 h. Setting: The study was conducted in a pediatric intensive care unit. Patients: Patients included 25 randomly selected PWS patients. Main Outcome Measure: Patients were considered as having CAI when ACTH levels remained below 33 pmol/liter at 0730 h. Results: Median (interquartile range) age was 9.7 (6.8-13.6) yr. Fifteen patients (60%) had an insufficient ACTH response (CAI, P < 0.001). There was no significant difference in age, gender, genotype, and body mass index sd score between patients with CAI and those without. Morning salivary cortisol levels and diurnal profiles were normal in all children, suggesting that CAI becomes apparent only during stressful conditions. Conclusions: Strikingly, 60% of our PWS patients had CAI. The high percentage of CAI in PWS patients might explain the high rate of sudden death in these patients, particularly during infection-related stress. Based on our data, one should consider treatment with hydrocortisone during acute illness in PWS patients unless CAI has recently been ruled out with a metyrapone test.

Published 8 May 2008 in J Clin Endocrinol Metab, 93(5): 1649-1654.
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Articles on Prader-Willi Syndrome published 7 May 2008:

Hyperghrelinemia precedes obesity in Prader-Willi syndrome.   J Clin Endocrinol Metab.

Background: High plasma ghrelin levels have been reported in Prader-Willi syndrome (PWS). However, little is known about plasma ghrelin in these children during the first years of life characterized by a failure to thrive. Objective: To investigate total plasma ghrelin levels in children with PWS and in controls from 2 months to 17 years. Subjects and methods: Forty children with PWS (24 boys 16 girls, median age 3.6 years, median BMI Z-score 0.3) were compared to 84 controls (57 boys 27 girls ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 6 May 2008:

Pre-, peri- and postnatal complications in Prader-Willi syndrome in a UK sample.   Early Hum Dev, 84(5): 331-6.

BACKGROUND: Few studies describe in detail the pregnancy and early development of infants with Prader-Willi syndrome (PWS). However, variations at these early stages may partially account for differences in the later phenotype. A recent paper described an abnormally high number of problems in pregnancy and early infancy in a large sample of people with PWS but this sample was not homogeneous with respect to age and potentially liable to cohort effects. AIMS: To describe the early development of ... [Abstract] [Full-text]

Efficacy of Laparoscopic Sleeve Gastrectomy (LSG) as a Stand-Alone Technique for Children with Morbid Obesity.   Obes Surg.

BACKGROUND: Laparoscopic sleeve gastrectomy (LSG) is basically unknown as a stand-alone technique for bariatric surgery in children and adolescents. It may be advantageous for this age group though, since it requires neither foreign body placement nor life-long malabsorption. We present the first report about the efficacy of LSG in a small pediatric series. METHODS: All patients (n = 4, female) had been in a multi-modal weight loss program for several years without long-term success. At ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 2 May 2008:

Neural control of breathing: insights from genetic mouse models.   J Appl Physiol, 104(5): 1522-30.

Recent studies described the in vivo ventilatory phenotype of mutant newborn mice with targeted deletions of genes involved in the organization and development of the respiratory-neuron network. Whole body flow barometric plethysmography is the noninvasive method of choice for studying unrestrained newborn mice. Breathing-pattern abnormalities with apneas occur in mutant newborn mice that lack genes involved in the development and modulation of rhythmogenesis. Studies of deficits in ventilatory ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 1 May 2008:

BioEnterics Intragastric Balloon for Treatment of Morbid Obesity in Prader-Willi Syndrome: Specific Risks and Benefits.   Obes Surg.

BACKGROUND: Obesity in Prader-Willi Syndrome (PWS) is progressive, severe, and resistant to dietary, pharmacological, and behavioral treatment. A body weight reduction is mandatory to reduce the risk of cardio-respiratory and metabolic complications. The aim of the study was to assess risks and benefits of BioEnterics Intragastric Balloon (BIB) for treatment of morbid obesity in PWS patients. METHODS: Twenty-one BIB were positioned in 12 PWS patients (4 M, 8 F), aged from 8.1 to 30.1 years, and ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 21 April 2008:

'Hungry Eyes': visual processing of food images in adults with Prader-Willi syndrome.   J Intellect Disabil Res.

Background Prader-Willi syndrome (PWS) is a genetic disorder associated with intellectual disabilities, compulsivity, hyperphagia and increased risks of life-threatening obesity. Food preferences in people with PWS are well documented, but research has yet to focus on other properties of food in PWS, including composition and suitability for consumption. It is also unclear how food perceptions differ across the two major genetic subtypes of PWS. Methods This study examined neural responses to ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 17 April 2008:

Cross-cultural comparisons of obesity and growth in Prader-Willi syndrome.   J Intellect Disabil Res, 52: 426-36.

Introduction The present study reports cross-cultural comparisons of body mass index (BMI) and growth in Prader-Willi syndrome, a neurodevelopmental disorder associated with obesity, growth restriction and mild learning disability. Our objectives were to: (1) compare rates of obesity in adults with Prader-Willi syndrome (PWS) in France, with data available from Belgium, the UK and the USA; (2) compare growth of French children with PWS with their counterparts in Germany and the USA; and (3) ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 14 April 2008:

Interdisciplinary behavioral intervention for life-threatening obesity in an adolescent with prader-willi syndrome - a case report.   J Dev Behav Pediatr, 29(2): 129-34.

OBJECTIVE:: To demonstrate interdisciplinary behavioral rehabilitation for life-threatening obesity in an adolescent female with Prader-Willi syndrome. METHODS:: Body Mass Index (BMI), supplemental oxygen requirement, mobility, and tantrums were documented. A 600 kcal per day diet, physical therapy, and exercise were implemented in an inpatient setting. A behavioral program was employed by an interdisciplinary team to ensure dietary adherence and to increase patient compliance with therapy ... [Abstract] [Full-text]

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