Abstract：
PTEN hamartoma tumor syndrome (PHTS) might be associated with a distinct cognitive and psychological profile. However, previous studies are limited, predominantly based on small and pediatric cohorts, likely affected by selection bias, and show a broad range of findings. We aimed to characterize the neuropsychological functioning of adults with PHTS. A total of 40 participants, with intellectual disability as exclusion criterium, completed an extensive clinical neuropsychological assessment including cognitive tasks, questionnaires, and a clinical diagnostic interview. The cognitive tasks and questionnaire data were categorized as below and above average based on 1.5 SD. About 80% of participants showed an average level of intelligence. In addition, 30% and 24% of participants scored below average on immediate memory recall and speed of information processing, respectively. Furthermore, about 25% reported above average scores on the majority of the questionnaires, indicating psychological distress, signs of alexithymia, and cognitive complaints. Personality of participants was characterized by inflexibility, social withdrawal, and difficulties in recognizing and describing their own emotions. Adults with PHTS demonstrate a heterogeneous yet distinct neuropsychological profile that is characterized by slower information processing, psychological problems, and specific personality traits. These findings provide directions on how to optimize the care and daily lives of adults with PHTS.
摘要：
PTEN错构瘤肿瘤综合征（PHTS）可能与独特的认知和心理特征有关。然而,以前的研究是有限的，主要基于小型和儿科队列，可能受到选择偏差的影响，并显示了广泛的发现。我们旨在表征患有PHTS的成年人的神经心理功能。共有40人参加,以智力残疾为排除标准，完成了广泛的临床神经心理学评估，包括认知任务，问卷，和临床诊断访谈。认知任务和问卷数据基于1.5SD被分类为低于和高于平均值。大约80％的参与者表现出平均智力水平。此外,30%和24%的参与者在即时记忆回忆和信息处理速度方面得分低于平均水平。分别。此外，大约25%的人在大多数问卷中报告的分数高于平均水平，表明心理困扰，述情障碍的迹象,和认知抱怨。参与者的人格特点是不灵活，社会退出,以及难以识别和描述自己的情绪。患有PHTS的成年人表现出异质性但独特的神经心理学特征，其特征是信息处理速度较慢，心理问题,和特定的人格特质。这些发现为如何优化PHTS成人的护理和日常生活提供了指导。
