Endocrine Abstracts

JOINT3781

Prader Willi Syndrome (PWS) is a rare genetic neurodevelopmental condition typically associated with hyperphagia, weight gain and premature mortality largely due to extreme obesity. Prevalence is estimated to be 1 in 11, 000 in Ireland. Scoliosis is a recognised feature of Prader Willi Syndrome noted to occur in over 40%, independent of growth hormone therapy treatment. The cause is unknown but as the distribution is bimodal, it is hypothesised that in infancy it relates to hypotonia and in later childhood follows the same pattern as idiopathic scoliosis in the general population.

Aims: To audit the frequency of scoliosis in an Irish cohort of children with PWS. To explore the methods of assessment and onward referral to orthopaedics where appropriate.

Methods: Detailed retrospective chart review of patients attending a tertiary specialist paediatric PWS service was undertaken in September- October 2024. Clinical and radiological examination for scoliosis was assessed, as were age, sex, growth hormone status, timing of assessments and scoliosis management. Findings were compared against the 2024 PWS UK & Ireland Prader–Willi syndrome: Guidance - scoliosis recommendations, which include annual clinical examination and two yearly radiographic examination during years of peak prevalence of scoliosis.

Results: All 49 patients currently attending the service, aged 0. 5 -14 years (50% male), were evaluated. Scoliosis was detected in 33 patients (67%) which was clinically evident in 24 (72%) and confirmed radiologically. The remaining 9 (27%) were detected on radiological screening. Referral for orthopaedic assessment was completed for all 33 children, 11 (33%) were awaiting review at the time of study; 12 (36%) were undergoing active orthopaedic monitoring and a further 10 (30%) had undergone orthopaedic interventions, including casting, bracing, or surgery (growing rods or posterior spinal fusion). In 36 patients (73%), there was full compliance with recommendations. In 8 cases less frequent radiological screening was undertaken and 4 (8. 3%) had more frequent radiology than recommended. This was for monitoring of a mild spinal curvature before referral to orthopaedics when the Cobb angle had exceeded 10 degrees.

Conclusion: Scoliosis is common in children with PWS. Regular spinal examination with radiological assessment is important for detection and subsequent management of scoliosis. The prevalence of scoliosis in PWS in Ireland was similar to that reported in the USA. However, orthopaedic intervention was twice as common in the Irish cohort. This could potentially be influenced by long waiting times for paediatric orthopaedic assessment in Ireland and merits further study.