MOTOR AND FUNCTIONAL OUTCOMES OF A CHILD WITH TUBULINOPATHY UNDERGOING INTENSIVE TRAINING: A CASE REPORT

• DOI: https://doi.org/10.22533/at.ed.159592524069

• Palavras-chave: Physiotherapy; Neurological disorders; Development; Genetic diseases; Pediatrics

• Keywords: Physiotherapy; Neurological disorders; Development; Genetic diseases; Pediatrics

• Abstract:

  Introduction: Tubulinopathies are a group of cortical and subcortical brain malformations characterized by various clinical alterations. Children with tubulinopathies can present variable clinical manifestations, such as cognitive alterations, developmental delays, motor impairment, hypotonia, intellectual disability of varying degrees and strabismus. Intensive approaches are essential for a better prognosis, such as the Training Program in Intensive Neurological Rehabilitation (TRAINI®) Objective: To analyze the motor and functional outcomes of a child with tubulinopathy who underwent TRAINI®. Methods: This is a case study carried out in a pediatric clinic in Fortaleza-CE, with a 1 year and 1 month old child diagnosed with a mutation in the TUBA1A gene. Intensive treatment was carried out for six months, with sessions from Monday to Friday, using resources such as therapeutic clothing, strength training and task-oriented training. Assessments were carried out using the Gross Motor Function Measure (GMFM-88) at two points in time: January and June 2024. Results: There was an overall improvement of 15.1% in the GMFM-88 score, from 19.6% to 34.7%. The greatest gains were seen in dimensions A (lying down and rolling over) and B (sitting). There was also an improvement in eye fixation and visual perception with the use of optical correction. Conclusion: The TREINI® program, with its interdisciplinary approach and therapeutic strategies based on the ICF, proved to be effective in promoting the child's functionality and independence, contributing to their engagement with the environment and improving their quality of life.