Department of Communication Sciences and Disorders, University of South Carolina, Columbia, SC, USA.
Department of General Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
J Intellect Disabil Res. 2024 Nov;68(11):1316-1330. doi: 10.1111/jir.13182. Epub 2024 Aug 12.
Self-determination refers to setting goals and making decisions regarding one's own life with support from others as needed. Research on people with intellectual and developmental disabilities has established the importance of self-determination for quality of life outcomes, such as increased independence and life satisfaction. However, self-determination has not been characterised specifically in fragile X syndrome (FXS), the leading inherited cause of intellectual disability. Relative to youth with other forms of intellectual and developmental disabilities, youth with FXS may face exceptional barriers to the development of self-determined behaviour. In addition to intellectual disability, the FXS behavioural profile is characterised by high rates of autism and anxiety that may further limit opportunities for youth with FXS. The heritable nature of the condition can also yield a distinctive family environment, with siblings and parents also living with fragile X or its associated conditions. Considering these unique challenges, the present study examined self-determination in young adult males and females with FXS and explored whether factors such as language skills, adaptive behaviour and autism traits were associated with self-determination capacity and opportunities.
The present study included 9 females and 36 males with FXS between the ages of 17 and 25 years. Caregivers (mothers or fathers) completed the American Institute for Research Self-Determination Assessment, which is a questionnaire that yields three scores: self-determination capacity, opportunities for self-determination at home and opportunities for self-determination at school.
Caregivers endorsed a wide range of self-determination capacity and opportunities, with ratings for opportunities at home and school exceeding ratings of capacity. Better adaptive behaviour skills were associated with more self-determination capacity, and the presence of more autism traits was associated with fewer opportunities at school.
Results from this study contribute to our understanding of avenues to best support young adults with FXS as they transition to adulthood. Our findings also have implications for practice, such that interventions targeting adaptive behaviours and self-determination may be an effective approach for promoting autonomy and independence for young adults with FXS. Additionally, caregivers and educators should continue to provide opportunities to practise self-determination, regardless of their perception of capacity.
自主是指在他人的支持下设定目标并做出决策，以提高生活质量，例如增加独立性和生活满意度。然而，自主在脆性 X 综合征（FXS）中并没有具体的特征，脆性 X 综合征是智力障碍的主要遗传性病因。与其他形式的智力和发育障碍的年轻人相比，脆性 X 综合征的年轻人在发展自主行为方面可能面临特殊的障碍。除了智力障碍，脆性 X 综合征的行为特征还表现为自闭症和焦虑症的高发率，这可能进一步限制了脆性 X 综合征患者的机会。该病的遗传性也会导致独特的家庭环境，兄弟姐妹和父母也可能患有脆性 X 或其相关疾病。考虑到这些独特的挑战，本研究调查了脆性 X 综合征年轻男性和女性的自主能力，并探讨了语言技能、适应行为和自闭症特征等因素是否与自主能力和机会相关。
本研究纳入了 9 名女性和 36 名年龄在 17 至 25 岁之间的脆性 X 综合征男性。照顾者（母亲或父亲）完成了美国研究所的自主评估，这是一个问卷，得出三个分数：自主能力、家庭自主机会和学校自主机会。
照顾者对自主能力和机会的评价范围很广，家庭和学校的机会评价高于能力评价。更好的适应行为技能与更多的自主能力相关，更多的自闭症特征与学校机会减少相关。
本研究的结果有助于我们了解如何为脆性 X 综合征的年轻人提供最佳支持，帮助他们过渡到成年期。我们的研究结果也对实践有影响，例如针对适应行为和自主的干预措施可能是促进脆性 X 综合征年轻人自主性和独立性的有效方法。此外，无论照顾者和教育者对能力的看法如何，都应继续提供自主实践的机会。
