Катамнестическое наблюдение и реабилитация пациентов с синдромом Костелло

Abstract

Aim. To evaluate the results of rehabilitation of patients with Costello syndrome in a day hospital in the long-term period. Design. A retrospective, single-center, prolonged, non-randomized observational study. Materials and methods. The study included 6 patients with genetically verified Costello syndrome who were observed in a day hospital in the period from 2012 to 2024. The results of catamnestic observation and rehabilitation of patients are analyzed. Results. Catamnestic observation in a multidisciplinary hospital for 2–12 years made it possible to evaluate the effectiveness of rehabilitation in the patients. Comprehensive individual rehabilitation programs were developed for 6 patients with Costello syndrome (5 girls, 1 boy) aged 4 months to 12 years. All patients received rehabilitation on the background of medication prescribed by pediatrician and neurologist, within botulinum therapy (2 children). In addition to physical influence (physiotherapy, kinesiotherapy), there were classes with a speech therapist, speech pathologist and a family psychologist. The results were evaluated according to indicators of psychomotor and speech progress, cognitive abilities and social adaptation. Positive dynamics was demonstrated in 5 out of 6 observed patients. Six patients underwent a complex individualized rehabilitation therapy during periods of stabilization of their condition after pediatrician approval. In our research 3 оf 6 children with Costello syndrome underwent 3 rehabilitation courses at the age of 1–2 years. Other 3 patients continued to undergo rehabilitation treatment one time per year during long-term follow-up observation in a day hospital, their programs were developed individually in accordance with current tasks. An integrated approach allowed children to adapt to society and start visiting the secondary school. Conclusion. Comprehensive individual rehabilitation programs developed for each patient, based on the results of examination, made it possible to achieve an improvement in the patients' condition — neuro-orthopedic and somatic indicators, as well as cognitive development and social adaptation. Keywords: RASopathies, Costello syndrome, catamnestic observation, rehabilitation.