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• W2122952017 abstract "Muscle hypotonia and failure to thrive are key symptoms of Prader–Willi syndrome (PWS) allowing diagnosis during infancy already. Improved general care as well as Coenzyme Q10 (CoQ10) and growth hormone (GH) are administered to improve PWS children's outcome. This study aims to investigate psychomotor development of young PWS children in relation to body weight and body composition at baseline as well as to the effects of GH or CoQ10 therapy. Twenty-six young children (age 1.0 ± 0.1 years, mean ± SEM) with PWS genetically proven at age 0.1 ± 0.1 years (17 deletions, 8 maternal disomy) were divided into three groups: Group 1 on GH therapy (started in 1994–1996, 6 mg/kg/week) tolerating low body weight (<50th centile), group 2 on GH (1997–2000) and group 3 on CoQ10 (2001–2002, 2.5 mg/kg/day orally), both combined with active early weight management to achieve weight >50th centile. Anthropometry, body composition and Griffith's developmental scores (DQs) were assessed before therapy and after 12 months. DQs were not related to infants' weight, lean mass or genetic background. DQs improved significantly with chronological age and were best in the most recently diagnosed group. Improved psychomotor development, mainly due to progress in locomotor development, did not differ between GH and CoQ10 treated groups. In conclusion, while only GH has significant effects on growth and body composition, GH and CoQ10 therapy act equally on psychomotor development of PWS infants. However, improving psychomotor development may merely reflect an age-related phenomenon additionally depending on early diagnosis and introduction of appropriate care. © 2008 Wiley-Liss, Inc." @default.
• W2122952017 created "2016-06-24" @default.
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• W2122952017 date "2008-01-01" @default.
• W2122952017 modified "2023-09-25" @default.
• W2122952017 title "Developmental profiles in young children with Prader–Labhart–Willi syndrome: Effects of weight and therapy with growth hormone or coenzyme Q10" @default.
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• W2122952017 doi "https://doi.org/10.1002/ajmg.a.32137" @default.
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