BACKGROUND Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. In this study, reported behavioural and psychological characteristics of individuals with PTHS were investigated in comparison with the reported behaviour of age-matched individuals with Angelman syndrome (AS) and Cornelia de Lange syndrome (CdLS). METHODS Questionnaire data were collected from parents/caregivers of individuals with PTHS (n = 24), assessing behaviours associated with autism spectrum disorder (ASD), sociability, mood, repetitive behaviour, sensory processing, challenging behaviours and overactivity and impulsivity. For most measures, data were compared to data for people with AS (n = 24) and CdLS (n = 24) individually matched by adaptive ability, age and sex. RESULTS Individuals with PTHS evidenced significantly higher levels of difficulties with social communication and reciprocal social interaction than individuals with AS, with 21 of 22 participants with PTHS meeting criteria indicative of ASD on a screening instrument. Individuals with PTHS were reported to be less sociable with familiar and unfamiliar people than individuals with AS, but more sociable with unfamiliar people than individuals with CdLS. Data also suggested areas of atypicality in sensory experiences. Challenging behaviours were reported frequently in PTHS, with self-injury (70.8%) occurring at significantly higher rates than in AS (41.7%) and aggression (54.2%) occurring at significantly higher rates than in CdLS (25%). Individuals with PTHS also evidenced lower reported mood than individuals with AS. CONCLUSIONS Behaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research.

中文翻译：

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皮特-霍普金斯综合征的行为和心理特征：与Angelman和Cornelia de Lange综合征的比较。

背景技术匹兹-霍普金斯综合征（PTHS）是与智力障碍相关的遗传性神经发育障碍。尽管已经确定了该疾病的潜在遗传机制，但对其行为表型的描述尚处于婴儿期。在这项研究中，与报道的年龄相匹配的患有Angelman综合征（AS）和Cornelia de Lange综合征（CdLS）的个体的行为进行了比较，对报告的PTHS个体的行为和心理特征进行了调查。方法：从PTHS（n = 24）的父母/照顾者那里收集问卷数据，评估与自闭症谱系障碍（ASD），社交，情绪，重复性行为，感觉处理，挑战性行为以及过动和冲动相关的行为。对于大多数措施，将数据与按适应能力，年龄和性别分别匹配的AS（n = 24）和CdLS（n = 24）患者的数据进行比较。结果PTHS患者的社交沟通和相互交流的困难程度显着高于AS患者，在PTHS的22位参与者中，有21位满足筛查工具提示ASD的标准。据报道，与AS患者相比，PTHS患者与熟悉和不熟悉的人相处较不融洽，但与CdLS患者相比，与陌生人的相处更广。数据还暗示了感觉体验中的非典型性区域。PTHS中经常报告具有挑战性的行为，自伤（70.8％）的发生率显着高于AS（41.7％）和攻击性（54.）。2％）的发生率明显高于CdLS（25％）。PTHS患者的情绪也比AS患者低。结论PTHS的特征性行为包括与ASD相关的行为，包括社交沟通不足和相互的社交互动。与其他遗传综合症组相比，较高的攻击性和自残行为具有潜在的临床意义，值得进一步研究。在PTHS中，非典型的感官特征也可能很明显。PTHS中不同行为和心理非典型性的具体病因及其之间的关系，以及对这些异常性的有效临床管理，为将来的研究提出了潜在的主题。结论PTHS的特征性行为包括与ASD相关的行为，包括社交沟通不足和相互的社交互动。与其他遗传综合症组相比，较高的攻击性和自残行为具有潜在的临床意义，值得进一步研究。在PTHS中，非典型的感官特征也可能是明显的。PTHS中不同行为和心理非典型性的具体病因及其之间的关系，以及对这些异常性的有效临床管理，为将来的研究提出了潜在的主题。结论PTHS的特征性行为包括与ASD相关的行为，包括社交沟通不足和相互的社交互动。与其他遗传综合症组相比，较高的攻击性和自残行为具有潜在的临床意义，值得进一步研究。在PTHS中，非典型的感官特征也可能很明显。PTHS中不同行为和心理非典型性的具体病因及其之间的关系，以及对这些异常性的有效临床管理，为将来的研究提出了潜在的主题。与其他遗传综合症组相比，较高的攻击性和自残行为具有潜在的临床意义，值得进一步研究。在PTHS中，非典型的感官特征也可能很明显。PTHS中不同行为和心理非典型性的具体病因及其之间的关系，以及对这些异常性的有效临床管理，为将来的研究提出了潜在的主题。与其他遗传综合症组相比，较高的攻击性和自残行为具有潜在的临床意义，值得进一步研究。在PTHS中，非典型的感官特征也可能是明显的。PTHS中不同行为和心理非典型性的具体病因及其之间的关系，以及对这些异常性的有效临床管理，为将来的研究提出了潜在的主题。