Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

BACKGROUND: Hereditary spastic paraplegias (HSP) are a composite and genetically heterogeneous group of conditions mainly expressed by the impairment of the central motor system ("pure" forms). The involvement of other components of the central nervous system or of other systems is described in the "complicate" forms. The definition of an investigation protocol capable, by assembling clinical and paraclinical indicators to fully represent the extent of the motor system impairment, would help both the clinical handling of these conditions and contribute to our understanding of their pathogenesis. METHODS: We applied a clinical and paraclinical protocol which included tools exploring motor and non motor functioning, neurophysiology and MRI to a composite cohort of 70 molecularly defined HSP patients aged 3 to 65, to define for each indicator its significance in detailing the presence and the severity of the pathology. RESULTS: Clinically increased deep tendon reflexes and lower limb (LL) weakness are constant findings in all patients. The "complicated" forms are characterized by peripheral motor impairment, cognitive and cerebellar involvement. The Spastic Paraplegia Rating Scale efficiently reflects the severity of functional problems and correlates with disease duration. Neurophysiology consistently documents the impairment of the central motor pathway to the LLs. Nevertheless, the upper extremities and sensory system involvement is a frequent finding. MRI diffusion tensor imaging (DTI) highlighted a significant alteration of FA and MD. Combining the sampling of the various portion of the cortico-spinal tract (CST) DTI consistently discriminated patients from controls. CONCLUSION: We propose a graded clinical and paraclinical protocol for HSP phenotype definition, indicating for each tool the discriminative and descriptive capacity. Our protocol applied to 9 different forms of HSP showed that the functional impairment often extends beyond the CST. The novel DTI approach may add significant elements in disease recognition, staging and mapping.

Individual and group treatment for patients with acquired brain injury in comprehensive rehabilitation.

PRIMARY OBJECTIVE: The aim of this study was to investigate the hypothesis that group rehabilitation is more effective than individual treatments and provides an improvement in clinical outcomes similar to that achieved by individual treatments alone. RESEARCH DESIGN: Two groups of patients were placed in different rehabilitation settings treated using the same rehabilitation approach. One received only individual treatments and the second group received a combination of both individual and group treatments. The independent variables were measured both pre- and post-treatment and compared between the two groups. METHODS AND PROCEDURES: Seventy-four patients treated with a comprehensive rehabilitation approach were divided into two groups: (a) individual treatment only and, (b) combined treatments (both individual and group). The outcome scales were LCF (Rancho Los Amigos Level of Cognitive Functioning), DRS (Disability Rating Scale) and FIM™ (Functional Independence Measure). RESULTS: The whole sample had obtained statistically significant improvements in all of the outcome scales: LCF (χ(2) = 45.26; p < 0.001), DRS (z = -3.92; p < 0.001) and FIM (z = -4.9; p < 0.001). The comparison between groups did not reveal any pre-treatment difference. Analysis of post-treatment, however, showed a greater improvement in the FIM scale for those in combined individual and group treatment (z = -0.2544, p = 0.01). CONCLUSIONS: Group rehabilitation integrated with individual treatments is more effective than individual treatments alone in improving independence measured by the FIM™ scale. Both groups had obtained statistically significant clinical improvements, the improvement in the FIM™ scale was significantly better in the combined treatment group.