皮特-霍普金斯综合征的行为和心理特征：与安格曼综合征和科里纳-德朗热综合征的比较。
Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes.
机构信息
Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
Great Ormond Street Institute of Child Health, University College London, London, UK.
出版信息
J Neurodev Disord. 2019 Oct 5;11(1):24. doi: 10.1186/s11689-019-9282-0.
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.
背景
皮特-霍普金斯综合征（PTHS）是一种与智力障碍相关的遗传性神经发育障碍。尽管该疾病的遗传机制已经确定，但对其行为表型的描述还处于起步阶段。在这项研究中，我们调查了 PTHS 患者的行为和心理特征，并将其与 Angelman 综合征（AS）和 Cornelia de Lange 综合征（CdLS）患者的行为进行了比较。
方法
我们从 PTHS 患者的父母/照顾者那里收集了问卷数据（n=24），评估了与自闭症谱系障碍（ASD）、社交能力、情绪、重复行为、感觉处理、挑战性行为、多动和冲动相关的行为。对于大多数测量指标，我们将 PTHS 患者的数据与单独通过适应能力、年龄和性别匹配的 AS 患者（n=24）和 CdLS 患者（n=24）的数据进行了比较。
结果
与 AS 患者相比，PTHS 患者在社交沟通和互惠社交互动方面存在明显更多的困难，22 名 PTHS 患者中有 21 名在筛查工具上符合 ASD 的标准。与 AS 患者相比，PTHS 患者与熟悉和不熟悉的人相比，社交能力较差，但与不熟悉的人相比，社交能力较强。数据还表明，PTHS 患者在感觉体验方面存在非典型性。在 PTHS 患者中，挑战性行为频繁发生，自残（70.8%）的发生率明显高于 AS（41.7%），攻击（54.2%）的发生率明显高于 CdLS（25%）。与 AS 患者相比，PTHS 患者的情绪也较低。
结论
PTHS 患者的行为可能包括与 ASD 相关的行为，包括社交沟通和互惠社交互动方面的缺陷。与其他遗传综合征组相比，攻击和自残行为的发生率较高，具有潜在的临床意义，需要进一步研究。在 PTHS 患者中，感觉异常的情况也可能存在。PTHS 患者不同行为和心理异常之间的具体病因和关系，以及这些异常的有效临床管理，可能是未来研究的潜在课题。
Zotero 插件