Background Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by germline mutations in the APC gene. Patients with FAP have multiple extraintestinal manifestations that follow a genotype-phenotype pattern; however, few data exist characterizing their cognitive abilities. Given the role of the APC protein in development of the central nervous system, we hypothesized that patients with FAP would show differences in cognitive functioning compared to controls. Methods Matched case-control study designed to evaluate cognitive function using the Test of Nonverbal Intelligence-4, the Bateria III Woodcock-Munoz, and the Behavior Rating Inventory of Executive Functions-Adult. Twenty-six individuals with FAP (mean age = 34.2 ± 15.0 years) and 25 age-gender and educational level matched controls (mean age = 32.7 ± 13.8 years) were evaluated. Results FAP-cases had significantly lower IQ ( p = 0.005). Across all tasks of the Batería III Woodcock-Muñoz, FAP-cases performed significantly lower than controls, with all of the summary scores falling in the bottom quartile compared to controls ( p < 0.0001). Patients with FAP scored within the deficient range for Long-Term Retrieval and Cognitive Fluency. Conclusion APC protein has an important role in neurocognitive function. The pervasive nature of the observed cognitive dysfunction suggests that loss or dysfunction of the APC protein impacts processes in cortical and subcortical brain regions. Additional studies examining larger ethnically diverse cohorts with FAP are warranted.

中文翻译：

---

家族性腺瘤性息肉病中普遍存在的神经认知功能障碍：APC 蛋白在神经认知功能中作用的概念验证

背景家族性腺瘤性息肉病（FAP）是一种由 APC 基因种系突变引起的常染色体显性遗传性疾病。FAP 患者具有多种遵循基因型-表型模式的肠外表现；然而，很少有数据能够表征他们的认知能力。鉴于 APC 蛋白在中枢神经系统发育中的作用，我们假设 FAP 患者与对照组相比会表现出认知功能差异。方法 匹配病例对照研究，旨在使用非语言智力测试 4、Bateria III Woodcock-Munoz 和执行功能行为评定量表（成人）评估认知功能。对 26 名 FAP 患者（平均年龄 = 34.2 ± 15.0 岁）和 25 名年龄-性别和教育水平匹配的对照者（平均年龄 = 32.7 ± 13.8 岁）进行了评估。结果 FAP 病例的智商显着较低（p = 0.005）。在 Batería III Woodcock-Muñoz 的所有任务中，FAP 病例的表现显着低于对照组，与对照组相比，所有总分均落在底部四分位数 (p < 0.0001)。FAP 患者的长期检索和认知流畅性得分处于不足范围内。结论 APC蛋白在神经认知功能中具有重要作用。观察到的认知功能障碍的普遍性表明，APC 蛋白的丢失或功能障碍会影响皮质和皮质下大脑区域的过程。有必要进行更多研究来检查更大的种族多样性 FAP 人群。