■介绍了一例6岁零5个月大的女性,其典型症状为Rubinstein-Taybi综合征。她获得阅读的临床和康复环境,写作,和沟通技巧进行了描述。
■由于她的认知障碍,多学科和长期干预(2014-2020)是必要的.治疗包括矫正,精神运动,logopedic,职业,和神经心理护理。她的家庭和学校都参与其中。
■注意力增加导致功能失调行为减少。测试结果仍低于平均水平,但是已经有了很大的改善。更好的沟通技巧是由于语音范围的增加,改善关节,词汇语义结构,理解,和句子的产生。数字技术在提高她的沟通技巧方面发挥了重要作用,不仅在社交互动中,而且在学校活动中。在议程和日历的帮助下,患者在时间和空间上定位。她可以表达自己的需求并撰写简洁的叙述。由于获得了功能性技能,她更有能力处理现实生活中的情况,这导致了社会和家庭活动的增加。
■本病例报告强调了个性化康复方案的重要性。获得早期基因诊断对于及时定制康复至关重要,这个过程中的任何延误都可能阻碍进展。
UNASSIGNED: A case report of a six-year and five-month-old female admitted with typical symptoms of Rubinstein-Taybi syndrome is presented. Clinical and rehabilitation settings where she acquired her reading, writing, and communication skills are described.
UNASSIGNED: Because of her cognitive disabilities, a multidisciplinary and long-term intervention (2014-2020) was necessary. Treatment included orthoptic, psychomotor, logopedic, occupational, and neuropsychological care. Her family and school were involved.
UNASSIGNED: Increased attention led to decreased dysfunctional behaviors. Test results are still below average, but there has been significant improvement. Better communication skills resulted from increased phonetic range, improved articulation, lexical-semantic structure, comprehension, and production of sentences. Digital technologies played a significant role in enhancing her communication skills, not just in social interactions but also in school activities. The patient is oriented in time and space with the help of agendas and calendars. She can express her needs and compose concise narratives. As a result of acquiring functional skills, she is better equipped to handle real-life situations, which has led to increased social and family activities.
UNASSIGNED: This case report highlights the importance of personalized rehabilitation programs. Obtaining an early genetic diagnosis is crucial for timely tailored rehabilitation, and any delays in this process can hinder progress.