Centre de Référence du Syndrome de Prader-Willi, Division of Endocrinology, Genetics, Gynaecology and Bone Diseases, Hôpital des Enfants, Toulouse, France.
Orphanet J Rare Dis. 2011 Jun 24;6:47. doi: 10.1186/1750-1172-6-47.
Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with hypothalamic dysfunction, early morbid obesity with hyperphagia, and specific psychiatric phenotypes including cognitive and behavioural problems, particularly disruptive behaviours and frequent temper outbursts that preclude socialization. A deficit in oxytocin (OT)-producing neurons of the hypothalamic paraventricular nucleus has been reported in these patients.
In a double-blind, randomised, placebo-controlled study, 24 adult patients with PWS received a single intranasal administration of 24 IU of OT or placebo and were tested 45 min later on social skills. Behaviours were carefully monitored and scored using an in-house grid as follows: over the two days before drug administration, on the half-day following administration, and over the subsequent two days. All patients were in a dedicated PWS centre with more than ten years of experience. Patients are regularly admitted to this controlled environment.
Patients with PWS who received a single intranasal administration of OT displayed significantly increased trust in others (P = 0.02) and decreased sadness tendencies (P = 0.02) with less disruptive behaviour (P = 0.03) in the two days following administration than did patients who received placebo. In the half-day following administration, we observed a trend towards less conflict with others (p = 0.07) in the OT group compared with the placebo group. Scores in tests assessing social skills were not significantly different between the two groups.
This study needs to be reproduced and adapted. It nevertheless opens new perspectives for patients with PWS and perhaps other syndromes with behavioural disturbances and obesity.
ClinicalTrials.gov: NCT01038570.
普拉德-威利综合征（PWS）是一种复杂的神经发育遗传疾病，伴有下丘脑功能障碍、早期病态肥胖伴贪食症，以及特定的精神表型，包括认知和行为问题，特别是破坏性行为和频繁的脾气爆发，妨碍了社交。这些患者的下丘脑室旁核产生催产素（OT）的神经元存在缺陷。
在一项双盲、随机、安慰剂对照的研究中，24 名成年 PWS 患者接受了单次鼻内给予 24IU 的 OT 或安慰剂，并在 45 分钟后接受社会技能测试。行为被仔细监测，并使用内部网格进行评分，如下所示：在药物给药前的两天，给药后的半天，以及随后的两天。所有患者均在专门的 PWS 中心，有超过十年的经验。患者定期被收治在这个受控环境中。
接受单次鼻内 OT 给药的 PWS 患者在给药后两天内表现出对他人的信任明显增加（P=0.02）和悲伤倾向减少（P=0.02），且破坏性行为减少（P=0.03），而接受安慰剂的患者则没有。在给药后的半天内，我们观察到 OT 组与安慰剂组相比，与他人的冲突减少（p=0.07）。评估社会技能的测试得分在两组之间没有显著差异。
这项研究需要复制和改进。然而，它为 PWS 患者和可能其他伴有行为障碍和肥胖的综合征患者开辟了新的前景。
ClinicalTrials.gov：NCT01038570。
