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.
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。