Background: PraderWilli syndrome (PWS) patients have been followed in our country in different ways but without a reference center. In January 2015, we started a PWS reference center in Sao Paulo University to promote a better care for patients and families and to support them with a multidisciplinary team, including pediatric endocrinologist, dietician, nurses, neurologist specialized in sleep disorders and otorhinolaringologist.
Method: Forty-two patients, between 2 and 21 years old, were followed for 6 month in our PWS clinic. The following items were compared before and after 6 month of follow-up: i) BMI-SDS, ii) use of growth-hormone, iii) metabolic profile: LDL, triglycerides, glycated hemoglobin (HbA1c), fasting glucose and insulin levels and iv) polysomnography. All patients received orientation in diet (900 calories/day independent of weight), physical activity and behavior.
Results: The mean age was 9.8±5.2DP. BMI-SDS at the first visit was 2.8±1.9DP and after 6 months 2.41±1.8DP. Metabolic profile showed that 21.6% patients had high LDL-c level (LDL-c> 130 mg/dl), 48.6% had low HDL-c level (<40 mg/dl), 18.6% had hypertriglyceridemia (>150 mg/dl), 23.5% had high A1c (≥5.8%) and 44.8% had insulin resistance. Only 12 patients used rhGH at the first visit and at the latest we had 29 (69%) patients on rhGH use. Thirteen patients were not in use of rhGH due to polysomnography alterations and need of surgery or CPAP. Polysomnography revealed that 47.8% patients had an apnoea-hypopnoea index >5 events/hour, 20.8% had O2 saturations under 92 and 56.5% had reduced sleep efficacy.
Conclusion: Most of our patients lost weight with the correct approach in diet, behavior and physical activity. The use of rhGH was increased after the beginning of the clinic. Alterations in polysomnography were a major problem revealed in the follow-up and the correct approach of the multidisciplinary team is essential to support this disorder.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology