Recommendations for the diagnosis and management of Prader-Willi syndrome
| Autor: | A P, Goldstone, A J, Holland, B P, Hauffa, A C, Hokken-Koelega, M, Tauber, P, Wilton |
|---|---|
| Přispěvatelé: | University of Leicester, Pediatrics |
| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_specialty
[SDV]Life Sciences [q-bio] Endocrinology Diabetes and Metabolism Genetic counseling Clinical Biochemistry MEDLINE Genetic Counseling Biochemistry Session (web analytics) Translocation Genetic snRNP Core Proteins 03 medical and health sciences 0302 clinical medicine Endocrinology Multidisciplinary approach Pregnancy Internal medicine Prenatal Diagnosis Epidemiology Medicine Humans Genetic Testing Lymphocytes Parent-Child Relations Child ComputingMilieux_MISCELLANEOUS 030304 developmental biology Genetic testing Patient Care Team 0303 health sciences Chromosomes Human Pair 15 medicine.diagnostic_test SnRNP Core Proteins business.industry Biochemistry (medical) Nuclear Proteins DNA Methylation 3. Good health Clinical Practice Practice Guidelines as Topic Female business Prader-Willi Syndrome 030217 neurology & neurosurgery |
| Zdroj: | Journal of Clinical Endocrinology and Metabolism Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2008, 93 (11), pp.4183-4197. ⟨10.1210/jc.2008-0649⟩ Journal of Clinical Endocrinology and Metabolism, 93(11), 4183-4197. Endocrine Society |
| ISSN: | 0021-972X 1945-7197 |
| DOI: | 10.1210/jc.2008-0649⟩ |
| Popis: | OBJECTIVE: The objective of the study was to provide recommendations for the diagnosis and management of Prader-Willi syndrome throughout the life span to guide clinical practice. PARTICIPANTS: An open international multidisciplinary expert meeting was held in October 2006 in Toulouse, France, with 37 invited speakers and session chairs (see Acknowledgments) and 85 additional registered participants. The meeting was supported by an unrestricted educational grant from Pfizer. EVIDENCE: Invited participants with particular expertise reviewed the published evidence base for their specialist topic and unpublished data from personal experience, previous national and international PWS conferences, and PWS Association clinical advisory groups. Sessions covered epidemiology, psychiatric, and behavioral disorders; breathing and sleep abnormalities; genetics; endocrinology; and management in infancy, childhood, transition, and adulthood. CONSENSUS PROCESS: This included group meetings including open discussion after each session. The guidelines were written by the Scientific Committee (authors), using the conclusions provided by the sessions chairs and summary provided by each speaker, including incorporation of changes suggested after review by selected meeting participants (see Acknowledgments). CONCLUSIONS: The diagnosis and management of this complex disorder requires a multidisciplinary approach with particular emphasis on the importance of early diagnosis using accredited genetic testing, use and monitoring of GH therapy from early childhood, control of the food environment and regular exercise, appropriate management of transition, consideration of group home placement in adulthood, and distinction of behavioral problems from psychiatric illness |
| Databáze: | OpenAIRE |
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