Shriki-Tal L, Avrahamy H, Pollak Y, Gross-Tsur V, Genstil L, Hirsch H J, Benarroch F
PWS Multidisciplinary Clinic, Child Neurology Unit, Shaare Zedek Medical Center, POB 3235, 9103102 Jerusalem, Israel; Beer-Yaacov Nes-Ziona Mental Health Center, POB 1, 74100 Nes-Ziona, Israel.
PWS Multidisciplinary Clinic, Child Neurology Unit, Shaare Zedek Medical Center, POB 3235, 9103102 Jerusalem, Israel.
Eur Psychiatry. 2017 Jul;44:47-52. doi: 10.1016/j.eurpsy.2017.03.007. Epub 2017 Apr 5.
Psychiatric manifestations in Prader-Willi Syndrome (PWS) are common and often are the most debilitating problem in these individuals. We present an epidemiological nation-wide survey of psychiatric diagnoses in the PWS population, based on full-range psychiatric interviews.
We studied the distribution of psychiatric diagnoses (as opposed to a symptom-based approach) in the Israel national cohort of adolescents and adults with PWS. There was a total of 53 (32 males) ages 12 years and older. All individuals and their caretakers were interviewed using standardized psychiatric questionnaires. Demographic and clinical variables, Clinical Global Impression (CGI) score, IQ, severity of hyperphagia and quality of life (QOL) were also assessed and correlations with NPD (number of psychiatric diagnoses) calculated.
An overwhelming majority (89%) of the study participants had at least one psychiatric diagnosis. The most common were disruptive behavior disorders (DBD) (68%), obsessive compulsive disorder (OCD) (45%) and skin picking (35%). Individuals with DBD were at increased risk for OCD and skin picking. Psychotic disorders were found in 11%. NPD had a significant negative influence on QOL. There was no correlation between NPD and BMI, IQ, hyperphagia severity, hormonal profile or genetic subtypes.
Psychiatric diagnoses are very frequent in PWS and strongly influence QOL. Furthermore, characterizing the profile of psychiatric comorbidity in PWS is crucial for planning effective interventions. Precise behavioral phenotyping in PWS in combination with a well-defined genetic etiology may aid biological research linking biological correlates to behavior.
普拉德-威利综合征（PWS）中的精神症状很常见，且往往是这些个体中最使人衰弱的问题。我们基于全面的精神科访谈，对PWS人群的精神科诊断进行了一项全国性的流行病学调查。
我们研究了以色列全国PWS青少年和成人队列中精神科诊断的分布情况（与基于症状的方法相对）。共有53名年龄在12岁及以上的个体（32名男性）。使用标准化精神科问卷对所有个体及其照料者进行访谈。还评估了人口统计学和临床变量、临床总体印象（CGI）评分、智商、贪食症严重程度和生活质量（QOL），并计算了它们与精神科诊断数量（NPD）的相关性。
绝大多数（89%）研究参与者至少有一项精神科诊断。最常见的是破坏性行为障碍（DBD）（68%）、强迫症（OCD）（45%）和皮肤搔抓（35%）。患有DBD的个体患OCD和皮肤搔抓的风险增加。发现11%的个体患有精神障碍。NPD对QOL有显著负面影响。NPD与体重指数、智商、贪食症严重程度、激素谱或基因亚型之间没有相关性。
精神科诊断在PWS中非常常见，并强烈影响生活质量。此外，明确PWS中精神科共病的特征对于规划有效的干预措施至关重要。PWS中精确的行为表型分析与明确的遗传病因相结合，可能有助于将生物学相关性与行为联系起来的生物学研究。
