Physical health problems in adults with Prader–Willi syndrome
Identifieur interne : 005259 ( Main/Exploration ); précédent : 005258; suivant : 005260Physical health problems in adults with Prader–Willi syndrome
Auteurs : Margje Sinnema [Pays-Bas] ; Marian A. Maaskant [Pays-Bas] ; Henny M. J. Van Schrojenstein Lantman-De Valk [Pays-Bas] ; I. Caroline Van Nieuwpoort [Pays-Bas] ; Madeleine L. Drent [Pays-Bas] ; Leopold M. G. Curfs [Pays-Bas] ; Constance T. R. M. Schrander-Stumpel [Pays-Bas]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2011-09.
Abstract
Prader–Willi syndrome (PWS) is a genetic disorder which is characterized by severe hypotonia and feeding problems in early infancy. In later childhood and adolescence, this is followed by hyperphagia and extreme obesity if the diet is not strictly controlled. Data on physical health problems in adults with PWS are scarce. We report on the prevalence of physical health problems in a Dutch cohort of adults with PWS in relation to age, BMI, and genetic subtype. Participants (n = 102) were retrieved via the Dutch Prader–Willi Parent Association and through physicians specializing in persons with intellectual disabilities (ID). Details regarding physical health problem spanning the participants' lifespan were collected from caretakers through semi‐structured interviews. Cardiovascular problems included diabetes mellitus, hypertension, and cerebrovascular accidents. Respiratory infections were frequent in adulthood. In males, cryptorchidism was almost universal, for which 28/48 males had a history of surgery, mostly orchidopexy. None of the women had a regular menstrual cycle. Sixteen individuals had a diagnosis of osteoporosis. Spinal deformation, hip dysplasia, and foot abnormalities were common. Skinpicking, leg edema, and erysipelas were frequent dermatological problems. The findings in our group support the notion that the prevalence of physical health problems is underestimated. This underscores the importance of developing monitoring programs which would help to recognize physical health problems at an early stage. © 2011 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.34171
Affiliations:
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<ref type="note" target="#fn2"></ref></title><author><name sortKey="Sinnema, Margje" sort="Sinnema, Margje" uniqKey="Sinnema M" first="Margje" last="Sinnema">Margje Sinnema</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht UMC, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Governor Kremers Centre, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>CAPHRI School for Public Health and Primary Care, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Governor Kremers Centre/Maastricht University Medical Centre, PO BOX 5800, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Maaskant, Marian A" sort="Maaskant, Marian A" uniqKey="Maaskant M" first="Marian A." last="Maaskant">Marian A. Maaskant</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Governor Kremers Centre, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>CAPHRI School for Public Health and Primary Care, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Health Care and Nursing Science, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Stichting Pergamijn, Echt</wicri:regionArea><wicri:noRegion>Echt</wicri:noRegion></affiliation></author><author><name sortKey="Van Schrojenstein Lantman E Valk, Henny M J" sort="Van Schrojenstein Lantman E Valk, Henny M J" uniqKey="Van Schrojenstein Lantman E Valk H" first="Henny M. J." last="Van Schrojenstein Lantman-De Valk">Henny M. J. Van Schrojenstein Lantman-De Valk</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Governor Kremers Centre, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>CAPHRI School for Public Health and Primary Care, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Stichting Pergamijn, Echt</wicri:regionArea><wicri:noRegion>Echt</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Primary and Community Care, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Caroline Van Nieuwpoort, I" sort="Caroline Van Nieuwpoort, I" uniqKey="Caroline Van Nieuwpoort I" first="I." last="Caroline Van Nieuwpoort">I. Caroline Van Nieuwpoort</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Section of Endocrinology, VU University Medical Center and Neuroscience Campus Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Drent, Madeleine L" sort="Drent, Madeleine L" uniqKey="Drent M" first="Madeleine L." last="Drent">Madeleine L. Drent</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Section of Endocrinology, VU University Medical Center and Neuroscience Campus Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Curfs, Leopold M G" sort="Curfs, Leopold M G" uniqKey="Curfs L" first="Leopold M. G." last="Curfs">Leopold M. G. Curfs</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht UMC, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Governor Kremers Centre, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>CAPHRI School for Public Health and Primary Care, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Schrander Tumpel, Constance T R M" sort="Schrander Tumpel, Constance T R M" uniqKey="Schrander Tumpel C" first="Constance T. R. M." last="Schrander-Stumpel">Constance T. R. M. Schrander-Stumpel</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht UMC, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">155</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="2112">2112</biblScope><biblScope unit="page" to="2124">2124</biblScope><biblScope unit="page-count">13</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-09">2011-09</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Prader–Willi syndrome (PWS) is a genetic disorder which is characterized by severe hypotonia and feeding problems in early infancy. In later childhood and adolescence, this is followed by hyperphagia and extreme obesity if the diet is not strictly controlled. Data on physical health problems in adults with PWS are scarce. We report on the prevalence of physical health problems in a Dutch cohort of adults with PWS in relation to age, BMI, and genetic subtype. Participants (n = 102) were retrieved via the Dutch Prader–Willi Parent Association and through physicians specializing in persons with intellectual disabilities (ID). Details regarding physical health problem spanning the participants' lifespan were collected from caretakers through semi‐structured interviews. Cardiovascular problems included diabetes mellitus, hypertension, and cerebrovascular accidents. Respiratory infections were frequent in adulthood. In males, cryptorchidism was almost universal, for which 28/48 males had a history of surgery, mostly orchidopexy. None of the women had a regular menstrual cycle. Sixteen individuals had a diagnosis of osteoporosis. Spinal deformation, hip dysplasia, and foot abnormalities were common. Skinpicking, leg edema, and erysipelas were frequent dermatological problems. The findings in our group support the notion that the prevalence of physical health problems is underestimated. This underscores the importance of developing monitoring programs which would help to recognize physical health problems at an early stage. © 2011 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Gueldre</li><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li><li>Nimègue</li></settlement></list><tree><country name="Pays-Bas"><noRegion><name sortKey="Sinnema, Margje" sort="Sinnema, Margje" uniqKey="Sinnema M" first="Margje" last="Sinnema">Margje Sinnema</name></noRegion><name sortKey="Caroline Van Nieuwpoort, I" sort="Caroline Van Nieuwpoort, I" uniqKey="Caroline Van Nieuwpoort I" first="I." last="Caroline Van Nieuwpoort">I. Caroline Van Nieuwpoort</name><name sortKey="Curfs, Leopold M G" sort="Curfs, Leopold M G" uniqKey="Curfs L" first="Leopold M. G." last="Curfs">Leopold M. G. Curfs</name><name sortKey="Curfs, Leopold M G" sort="Curfs, Leopold M G" uniqKey="Curfs L" first="Leopold M. G." last="Curfs">Leopold M. G. Curfs</name><name sortKey="Curfs, Leopold M G" sort="Curfs, Leopold M G" uniqKey="Curfs L" first="Leopold M. G." last="Curfs">Leopold M. G. Curfs</name><name sortKey="Curfs, Leopold M G" sort="Curfs, Leopold M G" uniqKey="Curfs L" first="Leopold M. G." last="Curfs">Leopold M. G. Curfs</name><name sortKey="Drent, Madeleine L" sort="Drent, Madeleine L" uniqKey="Drent M" first="Madeleine L." last="Drent">Madeleine L. Drent</name><name sortKey="Maaskant, Marian A" sort="Maaskant, Marian A" uniqKey="Maaskant M" first="Marian A." last="Maaskant">Marian A. Maaskant</name><name sortKey="Maaskant, Marian A" sort="Maaskant, Marian A" uniqKey="Maaskant M" first="Marian A." last="Maaskant">Marian A. Maaskant</name><name sortKey="Maaskant, Marian A" sort="Maaskant, Marian A" uniqKey="Maaskant M" first="Marian A." last="Maaskant">Marian A. Maaskant</name><name sortKey="Maaskant, Marian A" sort="Maaskant, Marian A" uniqKey="Maaskant M" first="Marian A." last="Maaskant">Marian A. Maaskant</name><name sortKey="Schrander Tumpel, Constance T R M" sort="Schrander Tumpel, Constance T R M" uniqKey="Schrander Tumpel C" first="Constance T. R. M." last="Schrander-Stumpel">Constance T. R. M. Schrander-Stumpel</name><name sortKey="Schrander Tumpel, Constance T R M" sort="Schrander Tumpel, Constance T R M" uniqKey="Schrander Tumpel C" first="Constance T. R. M." last="Schrander-Stumpel">Constance T. R. M. Schrander-Stumpel</name><name sortKey="Sinnema, Margje" sort="Sinnema, Margje" uniqKey="Sinnema M" first="Margje" last="Sinnema">Margje Sinnema</name><name sortKey="Sinnema, Margje" sort="Sinnema, Margje" uniqKey="Sinnema M" first="Margje" last="Sinnema">Margje Sinnema</name><name sortKey="Sinnema, Margje" sort="Sinnema, Margje" uniqKey="Sinnema M" first="Margje" last="Sinnema">Margje Sinnema</name><name sortKey="Sinnema, Margje" sort="Sinnema, Margje" uniqKey="Sinnema M" first="Margje" last="Sinnema">Margje Sinnema</name><name sortKey="Van Schrojenstein Lantman E Valk, Henny M J" sort="Van Schrojenstein Lantman E Valk, Henny M J" uniqKey="Van Schrojenstein Lantman E Valk H" first="Henny M. J." last="Van Schrojenstein Lantman-De Valk">Henny M. J. Van Schrojenstein Lantman-De Valk</name><name sortKey="Van Schrojenstein Lantman E Valk, Henny M J" sort="Van Schrojenstein Lantman E Valk, Henny M J" uniqKey="Van Schrojenstein Lantman E Valk H" first="Henny M. J." last="Van Schrojenstein Lantman-De Valk">Henny M. J. Van Schrojenstein Lantman-De Valk</name><name sortKey="Van Schrojenstein Lantman E Valk, Henny M J" sort="Van Schrojenstein Lantman E Valk, Henny M J" uniqKey="Van Schrojenstein Lantman E Valk H" first="Henny M. J." last="Van Schrojenstein Lantman-De Valk">Henny M. J. Van Schrojenstein Lantman-De Valk</name><name sortKey="Van Schrojenstein Lantman E Valk, Henny M J" sort="Van Schrojenstein Lantman E Valk, Henny M J" uniqKey="Van Schrojenstein Lantman E Valk H" first="Henny M. J." last="Van Schrojenstein Lantman-De Valk">Henny M. J. Van Schrojenstein Lantman-De Valk</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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