Background: A variable prevalence of scoliosis has been reported in PraderWilli syndrome (PWS). Clinical detection can be challenging. The role of GH therapy (GHT) in the onset and progression of scoliosis remains controversial as does the modality of screening.
Objective and hypotheses: To define the prevalence of scoliosis in our PWS patients and analyse the role of age, gender, genotype, BMI, and GHT on its onset and severity.
Method: We analysed patients attending Italian (n=74) and Scottish (n=28) PWS dedicated clinics. 102 genetically confirmed (44del, 41UPD, and 17 unknown) PWS patients (50F) were seen during the study period (20112014), mean age 8.6 years (0.817.2). Auxological and GH data was collected, as well as the assessment of scoliosis including Cobb Angles (CA) measurements. 89 (87%) are or have been on GHT. Spinal X-ray was performed in 90/102 (88%) patients.
Results: Scoliosis (CA >10°) was present in 55/90 (61%) patients (31F and 24M) who had undergone X-ray. 13 (27%) patients had severe scoliosis (SS),with a CA >25o and required referral to spinal deformity service due to a high risk of progression. We did not find significant differences in age, gender, genotype, or age starting GH among scoliosis (SG) and non-scoliosis group (NSG). In SG, 81/89 (91%) patients were on GHT, previous or ongoing (P<0.05 vs NSG) (non-SS in 83%; P≤0.001 vs SS). BMI Z-score was higher in SG (+1.3±1.3 vs −0.4±6.1, P<0,05). No difference was found among age, BMI Z-score, age starting GH in SS vs non-SS patients. Univariate and multivariate analysis showed that only BMI Z-score seems to influence scoliosis development (β: 0.474; P<0.001), while age, gender, and GHT did not seem to play a role. No correlation was found for SS patients.
Conclusion: In our patients scoliosis was frequent (61%), increasing with BMI Z-score. It is difficult to define the role of GH, given the high percentage of our patients treated. We suggest regular spinal X-rays, especially where clinical spinal examination is difficult due to underlying obesity. Regular radiological assessment for scoliosis is justified pre and post-GHT.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology