The functional secondary effect after an integrated rehabilitative intervention to learn reading and writing in a girl with Rubinstein-Taybi syndrome

• Published in: Journal of pediatric rehabilitation medicine pp. 1 - 10
• Main Authors: Saviola, Donatella, de Gaetano, Katia, Bruni, Stefania, Chiari, Margherita, Moschini, Chiara, Battagliola, Erica, Colla, Daniela, Cantoni, Matteo, De Tanti, Antonio
• Format: Journal Article
• Language: English
• Published: Netherlands 20.06.2024
• Subjects: rare genetic disease; language rehabilitation; functional rehabilitation; Rubinstein-Taybi syndrome; cognitive rehabilitation
• ISSN: 1874-5393; 1875-8894; 1875-8894
• DOI: 10.3233/PRM-230051

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. 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. 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. 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.