Department of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas.
Prader-Willi Homes of Oconomowoc (PWHO), Oconomowoc, Wisconsin.
Clin Genet. 2018 Mar;93(3):622-631. doi: 10.1111/cge.13142. Epub 2018 Feb 5.
The historical diagnosis of Prader-Willi syndrome (PWS), a complex genetic disorder, in adults is often achieved by clinical presentation rather than by genetic testing and thus limited genetic subtype-specific psychometric investigations and treatment options. Genetic testing and clinical psychiatric evaluation using Diagnostic and Statistical Manual (DSM)-IV-TR criteria were undertaken on 72 adult residents (34 M; 38 F) from the Prader-Willi Homes of Oconomowoc (PWHO), a specialty PWS group home system. Methylation specific-multiplex ligation probe amplification and high-resolution microarrays were analyzed for methylation status, 15q11-q13 deletions and maternal uniparental disomy 15 (mUPD15). Seventy (33M; 37F) of 72 residents were genetically confirmed and 36 (51%) had Type I or Type II deletions; 29 (42%) with mUPD15 and 5 (7%) with imprinting defects from three separate families. Psychiatric comorbidities were classified as anxiety disorder (38%), excoriation (skin picking) (33%), intermittent explosive disorder ([30%-predominantly among males at 45% compared with females at 16% [OR = 4.3, 95%CI 1.4-13.1, P < 0.008]) and psychotic features (23%). Psychiatric diagnoses did not differ between mUPD15 vs deletion, but a greater number of psychiatric diagnoses were observed for the larger Type I (4.3) vs smaller Type II (3.6) deletions when age was controlled (F = 5.0, P < 0.04). Adults with PWS presented with uniformly higher rates of psychiatric comorbidities which differed by genetic subtype with gender-specific trends.
普拉德-威利综合征（PWS）是一种复杂的遗传疾病，其成人期的历史诊断通常是通过临床特征而非基因检测来实现的，因此遗传亚型特异性的心理测量调查和治疗选择有限。对来自欧康诺科沃的普拉德-威利之家（PWHO）的 72 名成年居民（34 名男性；38 名女性）进行了基因检测和临床精神病学评估，使用《精神障碍诊断与统计手册》（DSM-IV-TR）标准。采用甲基化特异性多重连接探针扩增和高分辨率微阵列分析方法对甲基化状态、15q11-q13 缺失和母源单亲二体 15（mUPD15）进行了分析。72 名居民中有 70 名（33 名男性；37 名女性）通过基因检测得到确认，其中 36 名（51%）有 I 型或 II 型缺失；29 名（42%）有 mUPD15，3 名（5%）有来自 3 个不同家庭的印迹缺陷。精神共病分为焦虑症（38%）、搔抓（33%）、间歇性爆发障碍（[30% - 主要发生在男性，占 45%，而女性为 16% [OR = 4.3，95%CI 1.4-13.1，P < 0.008]）和精神病特征（23%）。mUPD15 与缺失之间的精神诊断没有差异，但在控制年龄后，较大的 I 型（4.3）缺失比较小的 II 型（3.6）缺失观察到更多的精神诊断（F = 5.0，P < 0.04）。患有 PWS 的成年人普遍存在更高的精神共病率，这些共病率因遗传亚型而异，且存在性别特异性趋势。
