Introduction: PraderWilli Syndrome (PWS) is a rare genetic disorder due to loss of paternally inherited genes on chromosome 15q11-13. It is characterised by neonatal hypotonia, childhood hyperphagia and obesity, hypogonadism, cognitive and behavioural disabilities, and development of scoliosis. PWS multidisciplinary (MDT) clinics were introduced from 2004 at Birmingham Childrens Hospital, a tertiary paediatric centre. This enabled centralised coordination of growth hormone (GH) and scoliosis management, with orthopaedic support. Our objective was to review the impact of PWS MDT clinics on growth parameters, in particular in children with scoliosis.
Methods/design: Retrospective observational study of sixty-eight children with genetically confirmed PWS, seen in a tertiary paediatric centre, from 2001 to 2019. Duration of follow-up was 1 year (reviewed in the last 12 months) to 14 years. Data were collected on growth hormone dose, scoliosis and treatment, height, weight and BMI SDS. We compared children with (n=34) and without (n=32) scoliosis defined by a Cobb angle greater than 10 degrees.
Results: Median height SDS at 1416 years was −2.9 in patients born before 2004 (n=21), compared to −1.47 in patients born after 2004 (n=5), (P= 0.01). The prevalence of scoliosis in patients born before 2004 was 76.9% (20/26), compared to 35.0% in patients born after 2004 (14/40) (P<0.001). 52.2% (12/23) of patients born before 2004 were on GH, compared to 85.4% (36/41) in patients born after 2004 (P<0.001). When all children with scoliosis were reviewed, aged 1 to 20 years, the last known median height SDS was −1.25, compared to −1.69 in the non-scoliosis group (P=0.01). However, this difference was not apparent when comparing each groups height SDS at 1416 years, −2.74 vs −2.62 (P=0.82). There was no significant difference when comparing height SDS before and 1 year after scoliosis treatment, and neither in the GH doses between scoliosis and no scoliosis groups.
Conclusions: Introduction of a PWS MDT clinic has resulted in: more children treated with GH; decrease in scoliosis prevalence; relatively taller children; continuing GH treatment in children with scoliosis and comparable final height SDS between children with and without scoliosis.
27 - 29 Nov 2019
British Society for Paediatric Endocrinology and Diabetes