ESPE Abstracts (2023) 97 T10

1Hopital des enfants, Toulouse, France. 2INSERM, Toulouse, France

Introduction: The neuropeptide oxytocin (OT) plays an important role in modulating behaviour and social interactions. Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder due to abnormal hypothalamic development including OT dysfunction that involves endocrine, nutritional and behavioural outcomes/features/trajectory. We previously showed in a phase I/II study (NCT02205034) that 18 infants with PWS, less than 6 months of age, who received an early short course (7 days) of intranasal OT treatment showed improved oral and social skills. We document here the long-term tolerance and effects of early intranasal OT treatment on the disease trajectory.

Methods: We performed a cross sectional comparative study including 17 treated children (OT-exposed cohort) and compared them to 17 age-matched untreated children with PWS (unexposed cohort), at 3 to 4 years old. All PWS children were included in the French reference centre in the children hospital of Toulouse. We assessed social skills in the two cohorts with the Vineland adaptive behaviour scale, version II (VABS II). Behaviour was assessed with the childhood behaviour check list (CBCL), feeding skills including swallowing with questionnaire and videofluoroscopy of swallowing. Endocrine and metabolic issues were investigated and brain functional MRI (fMRI) was performed in the two cohorts.

Results: We reported here on the endocrine and metabolic data. No adverse event related to early OT treatment was reported. Circulating IGF-1 and HDL cholesterol were significantly higher in the OT-exposed cohort. We found a trend for a lower acylated ghrelin (AG) levels in the OT-exposed vs. unexposed cohort with normal AG values.

Conclusion: Early OT treatment is well tolerated up to 4 years and is likely to change the endocrine and metabolic trajectory of PWS. This study confirms the windows of opportunity for a short course of intranasal OT treatment in the first months of life.

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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