Introduction: Bardet-Biedl syndrome (BBS) is a monogenic disease characterized by retinitis pigmentosa (>90%), obesity (7286%), insulin resistant diabetes, and hypogonadism. Weight management is challenging due to frequent association of learning and visual impairment. At our BBS MDT clinic, dietetic review is provided at each visit. Dietetic input focuses primarily on reduced fat and sugar content in diet and exercise is encouraged. Individualised written dietary plan is provided.
Aims: To assess the effect of dietetic input on BMI-SDS in BBS children.
Methods: All children attending our MDT BBS clinic between January 2007-December 2014 with at least 3 years follow-up data were included. Paired t-test using SPSS was performed to compare the mean difference in BMI-SDS at baseline and follow-up.
Results: There were 48 children [median age 8.1 (range 0.915.1) years at baseline]. The mean (±SD) BMI-SDS at baseline and after 3 years follow up were similar 3.14 (±1.1) vs 3.18 (±0.9). Patients were grouped into Group A, < 5 years old at baseline (n=10) and Group B, >5 years old at baseline (n=38). In group A at baseline the median (range) age was 2.4 years (14.4) and mean (±SD) BMI-SDS at baseline, 2 and 3 years were 3.8 (±1.7), 4.4 (±1.2) and 4.5 (±0.88) respectively. In group B at baseline the median age was 9.7 years (range 5.0115.1) and mean BMI-SDS at baseline, 2 and 3 years were 2.8 (±0.68), 2.7 (±0.7) and 2.6 (±0.6) respectively. The reduction in BMI-SDS at baseline and 3 years was not statistically significant (P=0.19). Six children (12.5%) developed type 2 diabetes and one had hyperlipidaemia. Prevalence of hypertension was high at 33% (n=16) due to the associated renal problems.
Conclusion: Excess weight gain in early life may be attributed to delayed walking and difficulty in dietary restriction. Despite the increased risk of weight gain in later childhood associated with visual impairment, provision of individualised dietary plans are associated with a non-significant trend towards BMI-SDS reduction.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology