Understanding severe disruptive behaviors in adolescents with fragile X syndrome

描述（由申请人提供）：被诊断患有脆性X综合征（FXS）的青少年，这是遗传性智力残疾的主要已知原因，通常从事严重的破坏性行为（即，自我伤害和侵略），可以显着影响个人的教育进步和功能。然而，这些病理行为背后的生物学和行为机制知之甚少。在这项提案中，我们的目标是检查自主神经系统唤醒与环境因素（积极和消极的强化过程）相互作用的程度，以加剧和维持FXS中的自我伤害/侵略。将使用功能分析筛选工具（c）对潜在参与者进行筛选，这将使我们能够确定FXS中自我伤害/攻击发生的患病率、频率、严重程度和环境。我们还将筛选没有FXS的智障（ID）人士。从筛选中，将选择30名患有FXS的个体和30名ID对照者前往斯坦福大学进行为期3天的自我伤害/攻击性评估。这些参与者年龄在11至18岁之间，每天都会进行中度至重度的自我伤害/攻击。患有FXS的参与者将在年龄、功能水平和自闭症症状严重程度方面与ID对照参与者相匹配。这个比较组将使我们能够确定FXS的行为特征是否是FXS特有的，或者是一般ID个体的特征。每个受试者都将接受由委员会认证的行为分析师进行的功能分析，以确定维持儿童自我伤害/攻击的环境因素。功能分析将包括标准和“FXS特定”条件（例如过渡和社会需求）。为了检查生理因素的影响，我们将在基线和功能分析期间测量生理反应和唾液皮质醇水平。该项目的结果将直接帮助个人 FXS及其家庭，以及极大地推进对FXS中自我伤害/攻击的理解，提供急需的经验数据，为FXS和其他ID个体的未来干预提供信息。 FXS患者的共病行为中生理和环境因素之间的复杂相互作用。

DESCRIPTION (provided by applicant): Adolescents diagnosed with fragile X syndrome (FXS), the leading known cause of inherited intellectual disability, commonly engage in severe disruptive behaviors (i.e., self-injury and aggression) that can significantly impact the individua's educational progress and functioning. However, the biological and behavioral mechanisms underlying these pathological behaviors are very poorly understood. In this proposal, we aim to examine the extent to which autonomic nervous system arousal interacts with environmental factors (positive and negative reinforcement processes) to exacerbate and maintain self-injury/aggression in FXS. Screening of potential participants will be conducted using the Functional Analysis Screening Tool(c) which will allow us establish the prevalence, frequency, severity, and circumstances surrounding the occurrence of self- injury/aggression in FXS. We will also screen individuals with intellectual disability (ID) who do not have FXS. From the screening, 30 individuals with FXS and 30 ID controls will be selected to travel to Stanford University for a 3-day assessment of their self-injury/aggression. These participants will be aged 11 to 18 years and engage in self-injury/aggression with moderate to severe intensity on a daily basis. Participants with FXS will be matched to ID control participants with respect to age, functioning level, and degree of autistic symptom severity. This comparison group will allow us to determine whether the behavioral characteristics of FXS are specific to FXS, or characteristic of individuals with ID in general. Each subject will undergo a Functional Analysis, conducted by a Board Certified Behavior Analyst, to identify the environmental factors maintaining the child's self-injury/aggression. The Functional Analysis will include both standard and "FXS-specific" conditions (e.g. transitions and social demands). To examine the influence of physiological factors, we will measure physiological responses and salivary cortisol levels both at Baseline and during the Functional Analysis. The results of this project will directly help individuals with FXS and their families, as well as greatly advance the understanding of self-injury/aggression in FXS, providing sorely needed empirical data to inform interventions in the future for both FXS and other individuals with ID. The project will also significantly improve our understanding of the complex interplay between physiological and environmental factors in co-morbid behaviors in individuals with FXS.