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Abstract：
OBJECTIVE: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
目的：脆性X综合征（FXS）是遗传性智力障碍的最常见原因，由FMR1基因中CGG重复扩增(>200)导致表达缺乏引起。55到200个三胞胎之间的间隔落在前突变范围（PM）内，并可能导致不同的临床状况，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)。虽然目前还没有针对FXS和脆性X-PM相关病症(FXPAC)的治疗方法,及时诊断以及实施治疗策略，心理教育和行为干预可以改善FXS或FXPAC患者的生活质量（QoL）。为了调查这些人群的主要关切领域和治疗重点，意大利国家脆性X协会与班比诺·格苏儿童医院合作，在意大利参与者中进行了一项调查。
方法：这里，我们基于Weber及其同事在2019年进行的先前研究,提出了一项调查,旨在调查美国FXS患者的主要症状和挑战.该调查已被翻译成意大利语，以探索受FXS影响的意大利人对FXS的治疗需求，家庭成员,看护人,和专业人士。此外，我们添加了一个只指定给有PM的人的部分，调查主要症状，日常生活挑战和治疗重点。
结果：焦虑，具有挑战性的行为，语言障碍和学习障碍被认为是FXS关注的主要领域，据报道，PM与认知问题密切相关，社交焦虑,和过度思考。在FXS和PM中，焦虑被报告为优先治疗。
结论：FXS和PM可能与一系列认知，情感,和身体健康并发症。采取患者第一的观点可能有助于临床医生更好地表征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。
方法：这里，我们基于Weber及其同事在2019年进行的先前研究,提出了一项调查,旨在调查美国FXS患者的主要症状和挑战.该调查已被翻译成意大利语，以探索受FXS影响的意大利人对FXS的治疗需求，家庭成员,看护人,和专业人士。此外，我们添加了一个只指定给有PM的人的部分，调查主要症状，日常生活挑战和治疗重点。
结果：焦虑，具有挑战性的行为，语言障碍和学习障碍被认为是FXS关注的主要领域，据报道，PM与认知问题密切相关，社交焦虑,和过度思考。在FXS和PM中，焦虑被报告为优先治疗。
结论：FXS和PM可能与一系列认知，情感,和身体健康并发症。采取患者第一的观点可能有助于临床医生更好地表征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。
