title: Response to growth hormone treatment in Prader-Willi syndrome: auxological criteria versus genetic diagnosis.
abstract: OBJECTIVE
  The Australian Prader-Willi Syndrome (PWS) database was established to monitor the efficacy and safety of growth hormone (GH) treatment in PWS. This study aims to compare response to GH based on eligibility criteria.
  
  
  METHODS
  Comparative study: 72 children received GH on the basis of short stature or evidence of GH deficiency (pre-2009: PWS-SS) and 94 on a genetic diagnosis (post-2009: PWS-Dx). We report on mandatory patient data for GH prescription: median and standard deviation score (SDS) for height and body mass index (BMI), waist/height ratio, bone age/chronological age ratio and adverse events. Comparisons were made using non-parametric tests.
  
  
  RESULTS
  At baseline, the PWS-SS cohort was shorter (height SDS: -2.6 vs. -1.1, P < 0.001), had a lower BMI (0.6 vs. 1.5 SDS, P < 0.05) and greater bone age delay (bone age/chronological age: 0.7 vs. 0.9, P < 0.05) than the PWS-Dx cohort. PWS-SS parents were shorter (mid-parental height SDS: -0.13 vs. 0.28, P < 0.005). Mean change in height over 2 years was 0.9 SDS and in BMI using PWS reference standards -0.3 SDSPWS (n = 106) (year 2, height SDS: PWS-SS = -1.7, PWS-Dx = 0.1; BMI SDSPWS : PWS-SS = -1.0, PWS-Dx = -0.6). The waist/height ratio reduced (PWS-Dx: 0.60 vs. 0.56, P < 0.05) and bone age delay was unchanged over this period. No serious adverse events were reported.
  
  
  CONCLUSIONS
  The PWS-SS cohort represents a subgroup of the wider PWS-Dx population; however both cohorts improved height SDS with normalisation of height in the PWS-Dx cohort and lowering of BMI relative to PWS standards supporting the efficacy of treatment under the current Australian GH programme.
authors.affiliation: School of Medicine, The University of Queensland, Brisbane, Australia; Faculty of Health Sciences and Medicine, Bond University, Gold Coast, Australia.
authors.forename: Elly
authors.initials: E
authors.lastname: Scheermeyer
authors.forename: Ian
authors.initials: I
authors.lastname: Hughes
authors.forename: Mark
authors.initials: M
authors.lastname: Harris
authors.forename: Geoff
authors.initials: G
authors.lastname: Ambler
authors.forename: Patricia
authors.initials: P
authors.lastname: Crock
authors.forename: Charles F
authors.initials: CF
authors.lastname: Verge
authors.forename: Maria E
authors.initials: ME
authors.lastname: Craig
authors.forename: Phil
authors.initials: P
authors.lastname: Bergman
authors.forename: George
authors.initials: G
authors.lastname: Werther
authors.forename: Mieke
authors.initials: M
authors.lastname: van Driel
authors.forename: Peter Sw
authors.initials: PS
authors.lastname: Davies
authors.forename: Catherine S Y
authors.initials: CS
authors.lastname: Choong
mesh_terms: D001823:Body Composition / Q000187:drug effects; D001827:Body Height / Q000187:drug effects*; D015992:Body Mass Index; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006128:Growth / Q000187:drug effects; D019382:Human Growth Hormone / Q000009:adverse effects / Q000494:pharmacology / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D011218:Prader-Willi Syndrome / Q000188:drug therapy* / Q000503:physiopathology
chemical_list: D019382:Human Growth Hormone
keywords: Prader-Willi syndrome; disability; growth hormone; metabolic; obesity