Child & Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, 00165, Italy.
Department of Education, Psychology, Communication, University of Bari Aldo Moro, Bari, 70122, Italy.
Orphanet J Rare Dis. 2024 Jul 12;19(1):264. doi: 10.1186/s13023-024-03272-0.
Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression. Espansion between 55 and 200 triplets fall within the premutation range (PM) and can lead to different clinical conditions, including fragile X- primary ovarian insufficiency (FXPOI), fragile X-associated neuropsychiatric disorders (FXAND) and fragile X-associated tremor/ataxia syndrome (FXTAS). Although there is not a current cure for FXS and for the Fragile X-PM associated conditions (FXPAC), timely diagnosis as well as the implementation of treatment strategies, psychoeducation and behavioral intervention may improve the quality of life (QoL) of people with FXS or FXPAC. With the aim to investigate the main areas of concerns and the priorities of treatment in these populations, the Italian National Fragile X Association in collaboration with Bambino Gesù Children's Hospital, conducted a survey among Italian participants.
Here, we present a survey based on the previous study that Weber and colleagues conducted in 2019 and that aimed to investigate the main symptoms and challenges in American individuals with FXS. The survey has been translated into Italian language to explore FXS needs of treatment also among Italian individuals affected by FXS, family members, caretakers, and professionals. Furthermore, we added a section designated only to people with PM, to investigate the main symptoms, daily living challenges and treatment priorities.
Anxiety, challenging behaviors, language difficulties and learning disabilities were considered the major areas of concern in FXS, while PM was reported as strongly associated to cognitive problems, social anxiety, and overthinking. Anxiety was reported as a treatment priority in both FXS and PM.
FXS and PM can be associated with a range of cognitive, affective, and physical health complications. Taking a patient-first perspective may help clinicians to better characterize the cognitive-behavioral phenotype associated to these conditions, and eventually to implement tailored therapeutic approaches.
脆性 X 综合征（FXS）是最常见的遗传性智力障碍，由 FMR1 基因中的 CGG 重复扩展（>200）引起，导致表达缺失。55 到 200 个三联体之间的扩展属于前突变范围（PM），可导致不同的临床情况，包括脆性 X 原发性卵巢功能不全（FXPOI）、脆性 X 相关神经精神障碍（FXAND）和脆性 X 相关震颤共济失调综合征（FXTAS）。虽然目前 FXS 以及脆性 X-PM 相关疾病（FXPAC）没有治愈方法，但及时诊断以及实施治疗策略、心理教育和行为干预可以提高 FXS 或 FXPAC 患者的生活质量（QoL）。为了研究这些人群的主要关注点和治疗重点，意大利国家脆性 X 协会与 Bambino Gesù 儿童医院合作，对意大利参与者进行了一项调查。
在这里，我们展示了一项基于 Weber 及其同事在 2019 年进行的研究的调查，该研究旨在调查美国 FXS 个体的主要症状和挑战。该调查已被翻译成意大利语，以探索意大利 FXS 个体、家庭成员、照顾者和专业人员的 FXS 治疗需求。此外，我们添加了一个仅针对 PM 个体的部分，以调查主要症状、日常生活挑战和治疗重点。
焦虑、挑战性行为、语言困难和学习障碍被认为是 FXS 的主要关注点，而 PM 则与认知问题、社交焦虑和过度思考强烈相关。焦虑被报告为 FXS 和 PM 的治疗重点。
FXS 和 PM 可与一系列认知、情感和身体健康并发症相关。从患者的角度出发，可能有助于临床医生更好地描述与这些疾病相关的认知-行为表型，并最终实施量身定制的治疗方法。
