Bacheré N, Diene G, Delagnes V, Molinas C, Moulin P, Tauber M
Division of Endocrinology, Genetics, Gynaecology and Bone Diseases, Hôpital des Enfants, Toulouse, France.
Horm Res. 2008;69(1):45-52. doi: 10.1159/000111795. Epub 2007 Dec 4.
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).
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.
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.
Early diagnosis combined with multidisciplinary care decreases the hospitalization time, duration of gastric tube feeding and prevents early obesity in PWS infants.
背景/目的：描述并评估极早期诊断和多学科护理对患有普拉德-威利综合征（PWS）婴儿的病情发展及护理的影响。
一个多学科团队对19例在出生后第二个月之前被诊断为PWS的婴儿进行了随访。分析时的中位年龄为3.1岁[范围0.4 - 6.5岁]。将这些数据与1997年从法国PWS协会成员填写的113份问卷中收集的数据进行比较。后一组数据中的患者在分析时年龄为12.0岁[范围4个月至41岁]，诊断时的中位年龄为36个月。
他们的住院时间显著缩短，从30.0天[范围0 - 670天]降至21天[范围0 - 90天]（p = 0.043）。胃管喂养时间显著缩短，从30.5天[范围0 - 427天]降至15天[范围0 - 60天]（p = 0.017）。10例婴儿在平均年龄1.9±0.5岁时开始生长激素治疗，6例婴儿开始使用左甲状腺素。只有1例婴儿在2.5岁时变得肥胖。
早期诊断联合多学科护理可缩短PWS婴儿的住院时间、胃管喂养时间，并预防早期肥胖。
