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      Deaths in Children with Prader-Willi Syndrome

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          Abstract

          Irrespective of GH treatment, children with Prader-Willi syndrome (PWS) suffer more frequently and more seriously from respiratory problems than healthy children. The pathogenesis of such respiratory problems in PWS seems to be multifactorial in origin, but mainly related to insufficiency of respiratory muscles and pharyngeal narrowness. Deaths of children with PWS are reported among GH treated as well as untreated children. Our data show that also disturbed body composition plays an important role in fatal outcomes, possibly enhancing the ventilation disorder. For several years, in our recommendations we have pointed out the secondary risks of increasing obesity. In addition, it is recommended for all children with PWS, in particular before institution of GH therapy, to have polysomnography and an otorhinolaryngologic examination performed, and tonsillectomy in the case of enlarged tonsils. Furthermore, upper airway infections should be treated aggressively.

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          Most cited references 15

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          Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.

          The identification of all people with a diagnosis of Prader-Willi syndrome (PWS) confirmed by DNA methylation analysis living in Flanders was attempted through contact with the four genetic centres and the PWS Association. The birth incidence for the period 1993-2001 was 1:26 676, the minimum prevalence at 31 December 2001 was 1:76 574. A decreasing number of cases with age was found, which can be explained by a number of missing cases in the older population, a higher neonatal mortality in the past and an increasing mortality with age. Childhood death is usually sudden and associated with respiratory infection and high temperature, while the cause of death in adults is considered to be circulatory or respiratory in origin.
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            Prader-Willi syndrome: causes of death in an international series of 27 cases.

            Prader-Willi syndrome (PWS) is a complex condition with many medical and psychological features. In individuals with this syndrome, causes of death were studied. Data of 27 case reports were collected. Ages at death ranged from neonatal to 68 years. None of the individuals were treated with growth hormone (GH). Most cases were not completely documented and autopsy was performed in a minority of cases only. In five cases, death was considered not to be causally related to PWS. Hypotonia with hypoventilation was noted in the babies, and acute respiratory illness with unexpected sudden death was experienced in young children with PWS. Two young children died after a short period of fever and gastroenteritis. Obesity and its complications leading to death were pronounced in the adult group. One (possibly two) adult(s) died from gastric dilatation and shock. Based on these data, some cautious conclusions can be drawn. In babies with PWS hypoventilation is a risk factor; upper airway infection may be more serious than anticipated and any other clinical features pointing to an infection should be taken very seriously. Therefore, young infants with PWS hospitalized with an upper airway infection and/or hypoventilation or gastroenteritis symptoms, should be closely monitored. Early diagnosis and prevention of overweight is a major factor in preventing early causes of death in individuals with PWS. In the adult group, weight reduction is important but difficult to manage. Sleep apnea should be recognized and treated. Pain in the upper stomach and/or vomiting should be taken as a possible sign of acute intestinal dilatation; intravenous support may be life saving. Copyright 2003 Wiley-Liss, Inc.
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              Effects of growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader-Willi syndrome.

              The objective of this study was to investigate the effects of GH administration on pulmonary function, sleep, behavior, cognition, linear growth velocity, body composition, and resting energy expenditure (REE) in children with Prader-Willi syndrome. The study used a 12-month, balanced, randomized, double-blind, placebo-controlled, cross-over experimental design. Twelve subjects were randomized to GH (0.043 mg/kg x d) or placebo intervention for 6 months and then crossed over to the alternate intervention for 6 months. Differences in outcome variables were determined by paired t tests. Peak flow rate, percentage vital capacity, and forced expiratory flow rate improved and number of hypopnea and apnea events and duration of apnea events trended toward improvement after GH intervention. The only difference in cognition or behavior was an increase in hyperactivity scale on the Behavior Assessment System for Children after GH intervention. Linear growth velocity, REE, and lean mass were higher (67%, 19%, and 7.6%, respectively), and fat mass and percentage body fat were lower (10.3% and 8.1%, respectively) after GH intervention. GH administration did not change mean fasting ghrelin concentration. GH intervention improved body composition and REE and may contribute to better sleep quality and pulmonary function. GH administration did not impact fasting ghrelin concentration.
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                Author and article information

                Journal
                HRE
                Horm Res Paediatr
                10.1159/issn.1663-2818
                Hormone Research in Paediatrics
                S. Karger AG
                1663-2818
                1663-2826
                2005
                January 2005
                20 January 2005
                : 63
                : 1
                : 33-39
                Affiliations
                Foundation Growth Puberty Adolescence, Zurich, Switzerland
                Article
                82745 Horm Res 2005;63:33–39
                10.1159/000082745
                15604598
                © 2005 S. Karger AG, Basel

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                Page count
                Figures: 1, Tables: 4, References: 26, Pages: 7
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