[Implementation of the ICD-ICF model in rehabilitation medicine: report of a clinical case in neuromotor rehabilitation]. / Implementazione del modello ICD-ICF in medicina riabilitativa: presentazione di un caso clinico in riabilitazione neuromotoria.

SUMMARY: We present the clinical case of a 17-year-old boy who, after an auto-motorbike collision, suffered of bilateral condylar atlo-occipital dislocation with blood in the medullary canal and contusion of the C1-C3 spinal cord, hemothorax and pneumothorax, multiple costal fractures, fractures processes transverse L1 and right iliac wing and displaced fracture of the middle third of the right femur. In the emergency phase the patient, who was in a coma GCS: 3/15, was immediately intubated and taken to the Emergency Department and subsequently to Intensive Care Unit. He was also immediately subjected to chest drainage, reduction of femoral fracture and placement of external fixator and tracheostomy. Upon stabilization of the clinical picture, the patient was subjected to occipital-cervical stabilization with plates and screws and reduction of the fracture of the right femur with an intramedullary rod. Then the patient in hemodynamically stable and in alert condition, in spontaneous breath, was discharged and transferred to our Operative Unit of Intensive Neurorehabilitation. At the entrance, the doctor's evaluation, with the whole multidisciplinary team, enabled to identify the ICD-9 and ICF codes that best described the severity of the clinical picture: the patient showed tetraplegia, dysphonia and dysphagia, bearing a tracheal cannula in breath spontaneous with O2 supplementation, sequelae of multiple costal fractures and right femur, totally dependent on ADL. The rehabilitation intervention was aimed at promoting motor recovery in the 4 limbs, recovery of standing and walking, acquisition of ability to control daily life activities (ADL), recovery of physiological swallowing and removal of the tracheostomy tube. After long and slow physiotherapeutic training, the patient recovered the active motility at the crural and brachial level mainly at the proximal level, which however is not effective for ADL recovery. On the other hand, speech therapy allowed the passage to oral feeding and removal of the tracheostomy tube. Upon discharge, the re-evaluation of the ICF codes identified at the entrance indicated an improvement in the strength of the trunk muscles (b7305) with the possibility of performing transfers with assistance (d420), of dysphonia (b320) and of swallowing (b510) which led to the removal of the PEG and the tracheostomy tube; unfortunately severe deficiency of the muscular force at the distal brachial and crural level (b730, b7304) persists with severe disability in the activities of daily life (d455, d4551, d465, d429, d230).

Preserved somatosensory discrimination predicts consciousness recovery in unresponsive wakefulness syndrome.

OBJECTIVE: To assess somatosensory discrimination and command following using a vibrotactile P300-based Brain-Computer Interface (BCI) in Unresponsive Wakefulness Syndrome (UWS), and investigate the predictive role of this cognitive process on the clinical outcomes. METHODS: Thirteen UWS patients and six healthy controls each participated in two experimental runs in which they were instructed to count vibrotactile stimuli delivered to the left or right wrist. A BCI determined each subject's task performance based on EEG measures. All of the patients were followed up six months after the BCI assessment, and correlations analysis between accuracy rates and clinical outcome were investigated. RESULTS: Four UWS patients demonstrated clear EEG-based indices of task following in one or both paradigms, which did not correlate with clinical factors. The efficacy of somatosensory discrimination strongly correlated (VT2: R = 0.89, p = 0.0000002, VT3: R = 0.81, p = 0.002) with the clinical outcome at 6-months. The BCI system also yielded the expected results with healthy controls. CONCLUSIONS: Neurophysiological correlates of somatosensory discrimination can be detected in clinically unresponsive patients and are associated with recovery of behavioural responsiveness at six months. SIGNIFICANCE: Quantitative measurements of somatosensory discrimination may increase the diagnostic accuracy of persons with DOCs and provide useful prognostic information.

Predictors of non-invasive ventilation tolerance in amyotrophic lateral sclerosis.

BACKGROUND: The most frequent cause of death in patients with Amyotrophic Lateral Sclerosis (ALS) is respiratory failure. Recently, it has been shown that non-invasive ventilation improves survival and quality of life in ALS patients with respiratory failure, but little is known about predictors of non-invasive ventilation adaptation and tolerance. In this study we evaluated the effect of a comprehensive information about non-invasive ventilation use and a prolonged and intensive monitoring on tolerance to this palliative care. METHODS: We prospectively monitored all consecutive ALS patients with chronic respiratory failure and indication to non-invasive ventilation between January 2005 and December 2007. Non-invasive ventilation adaptation was always performed in a hospital setting. RESULTS: Forty-four patients were considered eligible: six declined the non-invasive ventilation proposal and one was excluded due to severe fronto-temporal dementia. Non-invasive ventilation was offered to thirty-seven inpatients in our ALS Centre, thirty-two of whom presented with severe (n=9) or mild-moderate (n=23) bulbar impairment at non-invasive ventilation initiation. The mean time interval for adaptation to ventilation was 5±2 days, but patients remained in hospital for an average extended period of one week. Thirty-five of the 37 patients who started non-invasive ventilation, including those with severe bulbar impairment, remained tolerant at twelve months follow-up. CONCLUSIONS: Our study shows that an intensive educational training and adaptation on non-invasive ventilation, when performed in a hospital multidisciplinary setting, increases compliance and tolerance over time, even in those patients with severe bulbar impairment. However, the design of our study, mainly based on a continuous monitoring and educational training of the patients, might not make it fully applicable to an outpatients setting.

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.

Idiopathic scoliosis (IS) is a spine deformity of unknown etiology. Family studies have suggested that IS may be inherited as a mendelian autosomal dominant trait. We have performed linkage analysis on a three-generation IS Italian family. A positive LOD score value of 3.20 at theta=0.00 was detected with marker D17S799 after a genome-wide scanning. Analysis of six flanking microsatellites confirmed the linkage and haplotype inspection defined an interval of about 20 cM between D17S947 and D17S798. This is the first locus reported for IS. We scored genes mapping in this interval and studied the heparan sulfotransferase genes as candidates on the basis of their biochemical role. No causative mutation was detected in the affected patients.