Centre de Référence Prader-Willi, Hôpital Marin AP-HP, Hendaye, France.
J Neurodev Disord. 2013 Aug 6;5(1):18. doi: 10.1186/1866-1955-5-18.
Maladaptive behavior has been reported as a phenotypical feature in Prader-Willi syndrome (PWS). It severely limits social adaptation and the quality of life of children and adults with the syndrome. Different factors have been linked with the intensity and form of these behavioral disturbances but there is no consensus about the cause. Consequently, there is still controversy regarding management strategies and there is a need for new data.
The behavior of 100 adults with PWS attending a dedicated center was assessed using the Developmental Behavior Checklist for Adults (DBC-A) and the PWS-specific Hyperphagia Questionnaire. The DBC-A was completed separately by trained caregivers at the center and relatives or caregivers in a natural setting. Genotype, gender, age, degree of obesity and cognitive impairment were analyzed as variables with a hypothetical influence on behavioral features.
Patients showed a relatively high rate of behavioral disturbances other than hyperphagia. Disruptive and social relating were the highest scoring DBC-A subscales whereas anxiety/antisocial and self-absorbed were the lowest. When hospital caregiver and natural caregiver scores were compared, scores for the latter were higher for all subscales except for disruptive and anxiety/antisocial. These effects of institutional management were underlined. In the DBC-A, 22 items have descriptive indications of PWS behavior and were used for further comparisons and correlation analysis. In contrast to previous reports, rates of disturbed behavior were lower in patients with a deletion genotype. However, the behavioral profile was similar for both genotypes. No differences were found in any measurement when comparing type I and type II deletions. The other analyzed variables showed little relevance.
Significant rates of behavioral disorders were highlighted and their typology described in a large cohort of adults with PWS. The deletion genotype was related to a lower severity of symptoms. Some major behavioral problems, such as hyperphagia, may be well controlled if living circumstances are adapted to the specific requirements of individuals with PWS.
适应性行为障碍已被报道为 Prader-Willi 综合征（PWS）的表型特征。它严重限制了患有该综合征的儿童和成人的社会适应能力和生活质量。不同的因素与这些行为障碍的强度和形式有关，但对于其原因尚未达成共识。因此，对于管理策略仍然存在争议，需要新的数据。
使用成人发育行为检查表（DBC-A）和 PWS 特异性暴食症问卷对 100 名在专门中心就诊的成年 PWS 患者的行为进行评估。中心的训练有素的护理人员和自然环境中的亲属或护理人员分别填写 DBC-A。分析基因型、性别、年龄、肥胖程度和认知障碍作为对行为特征有假设影响的变量。
患者除了暴食症之外还表现出相对较高的行为障碍发生率。破坏性行为和社交关系是 DBC-A 得分最高的子量表，而焦虑/反社会和自我专注则得分最低。当比较医院护理人员和自然护理人员的评分时，除了破坏性行为和焦虑/反社会行为外，后者的所有子量表评分均较高。这种机构管理的影响被强调。在 DBC-A 中，有 22 个项目具有描述性的 PWS 行为指标，用于进一步比较和相关分析。与之前的报告相反，缺失基因型患者的行为障碍发生率较低。然而，两种基因型的行为特征相似。在比较 I 型和 II 型缺失时，在任何测量中均未发现差异。其他分析的变量相关性较小。
在大型 PWS 成年患者队列中强调了显著的行为障碍发生率，并描述了其类型。缺失基因型与症状严重程度较低相关。如果生活环境适应 PWS 患者的特殊要求，一些主要的行为问题，如暴食症，可能会得到很好的控制。
