Background/Aims: To describe and evaluate the impact of very early diagnosis and multidisciplinary care on the evolution and care of infants presenting with Prader-Willi syndrome (PWS). Methods: 19 infants diagnosed with PWS before the second month of life were followed by a multidisciplinary team. Median age at the time of analysis was 3.1 years [range 0.4–6.5]. The data were compared with data collected in 1997 from 113 questionnaires filled out by members of the French PWS Association. The patients from this latter data set were 12.0 years [range 4 months to 41 years] at the time of analysis, with a median age of 36 months at diagnosis. Results: The duration of their hospitalization time was significantly reduced from 30.0 [range 0–670] to 21 [range 0–90] days (p = 0.043). The duration of gastric tube feeding was significantly reduced from 30.5 [range 0–427] to 15 [range 0–60] days (p = 0.017). Growth hormone treatment was started at a mean age of 1.9 ± 0.5 years in 10 infants and L-thyroxine in 6 infants. Only 1 infant became obese at 2.5 years. Conclusion: Early diagnosis combined with multidisciplinary care decreases the hospitalization time, duration of gastric tube feeding and prevents early obesity in PWS infants.

Keywords:
Neonatology, Hypotonia, Growth hormone
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2007
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