Effectiveness of rehabilitation intervention in persons with Friedreich ataxia.

Introduction: The relevance of rehabilitation in progressive neurological disorders, such as Friedreich's Ataxia (FRDA), has yet to be convincingly proven. FRDA is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy. The disease onset is usually in adolescence, leading to progressive disability. Omaveloxolone has been recently approved as the first pharmacological treatment for FRDA in adults and adolescents aged 16 years and older. Regarding non-pharmacological therapies, neurorehabilitation is a valuable aid in addressing the symptoms and in maintaining the residual functioning. We performed a prospective observational cohort study to evaluate the efficacy of inpatient rehabilitation (IR) for people with FRDA. Methods: A total of 42 individuals (29 adults and 13 children) with FRDA were recruited. There were 27 ambulant and 15 non-ambulant participants. The patients underwent IR of 3 and 4 weeks in children and adults, respectively. The IR treatment was designed to be applied within a multidisciplinary setting, so FRDA patients underwent, in addition to physiotherapy, also occupational therapy, practical manual activities and psychological support aiming to enhance transferable skills useful in the activities of daily living. The primary outcome was the Scale for the Assessment and Rating of Ataxia (SARA). Other measures were: Friedreich Ataxia Rating Scale (FARS) and Nine Hole Peg Test (NHPT). Furthermore, we used the 6 Minute Walk Test (6MWT), the Timed Up and Go (TUG) and the Berg Balance Scale (BBS) only on ambulant subjects. Outcomes were evaluated at baseline and at the end of the treatment. Results: We report that the IR significantly improves motor performance and ataxia symptoms in patients with FRDA. Our study shows significant functional improvement in all the outcome measures used, except for NHPT bilaterally. FARS and SARA scores post-IR are significatively reduced when compared (p < 0.001). Discussion: We demonstrate that IR programs in FRDA can provide a meaningful clinical improvement in terms of outcome measures. These findings could be useful when approaching progressive neurological disorders.

Automated ICF Coding of Rehabilitation Notes for Low-Resource Languages via Continual Training of Language Models.

The coding of medical documents and in particular of rehabilitation notes using the International Classification of Functioning, Disability and Health (ICF) is a difficult task showing low agreement among experts. Such difficulty is mainly caused by the specific terminology that needs to be used for the task. In this paper, we address the task developing a model based on a large language model, BERT. By leveraging continual training of such a model using ICF textual descriptions, we are able to effectively encode rehabilitation notes expressed in Italian, an under-resourced language.

Deep Brain Stimulation in childhood-onset dystonia due to brain pathology. A long-term study.

BACKGROUND: Pallidal Deep Brain Stimulation (DBS) is an established treatment option for isolated, inherited or idiopathic dystonia, however data on its safety and efficacy in other forms of dystonia are more limited. OBJECTIVES: Retrospective analysis of motor and non-motor outcomes in pediatric onset refractory dystonia due to static or progressive brain disorders in a cohort of patients with a DBS treatment duration ≥12 months. METHODS: Multidisciplinary assessments including standardised scales/tests of motor function, pain, quality of life, cognition and language were carried out before implantation and longitudinally afterwards. RESULTS: 9 patients were included, 7 had cerebral palsy. Mean age at implantation was 209 months ± 156, mean treatment duration 84 ± 37 months. DBS was well tolerated and positively affected both motor and non-motor functions. In particular, statistically significant improvements were documented in Burke-Fahn-Marsden Scale scores (- 19.9% p 0.01031) at 12 months and in long-term quality of life (+28.6%, p 0.0292). CONCLUSIONS: DBS may be a useful treatment option in generalized dystonia associated with brain pathology. Even when the motor benefits are limited, improvements in quality of life and non-motor functions, or the possible prevention of serious dystonia-related complications, may have a significant impact on overall clinical status.

The dystonic child treated with deep brain stimulation: ICF reading of a high-tech approach.

PURPOSE: The available tools used to describe childhood dystonia tend to offer a monodimensional view of the person functioning, which may overlook significant changes induced by treatment. We applied the International Classification of Functioning, Disability and Health (ICF) perspective to the description of the clinical picture of a dystonic child treated with deep brain stimulation (DBS) to get a more global representation of the treatment effect. METHOD: An 8-year-old child with secondary dystonia was selected within the institutional program for advanced treatment of pediatric dystonia as a candidate for bilateral implantation of electrodes into globus pallidus and chronic stimulation. The International Classification of Functioning, Disability and Health -children and youth (ICF-CY) based project and program format was used by the rehabilitation team to define the clinical picture, rehabilitation objectives, and to verify the outcome. RESULTS: The rehabilitation project and program included 39 ICF categories: 14 body functions, two body structures, 18 activities and participation, and five environment. On such basis we defined the individualized specific rehabilitation objectives and we checked for clinical changes after DBS. CONCLUSION: The ICF-CY format provides a complete and balanced profile of functioning in secondary dystonia treated with DBS and it could offer a novel perspective for outcome evaluation.