Functional outcome of patients with spinal cord injury: rehabilitation outcome study

Objective: To increase our knowledge of neurological recovery and functional outcome of patients with spinal cord injuries in order to make more successful rehabilitation programmes based on realistic goals.Design: Descriptive analysis of data gathered in an information system.Setting: Rehabilitation centre in The Netherlands with special department for patients with spinal cord injuries.Subjects: Fifty-five patients with traumatic spinal cord lesions admitted to the rehabilitation centre from 1988 to 1994. Main outcome measures: The functional improvement was presented in terms of progress in independence in nine daily activity skills. Independence was rated on a four-point scale.Results: From admission to discharge, lesions in 100% of patients with tetraplegia and 96% of patients with paraplegia remained complete. Significant progress in independence was made in self-care, ambulation and bladder and bowel care. Differences were found in the extent of functional improvement between subgroups of patients with different levels and extent of lesion. Contrary to expectations based on theoretical models, patients with complete paraplegia did not achieve maximal independence in self-care. Independent walking was only attained by patients with incomplete lesions. Regarding outcome of bladder and bowel care, poor results were found, especially the independence in defaecation and toilet transfers.Conclusions: The results of this study provided more insight into the functional outcome of a group of patients with traumatic spinal cord injury. More research is needed to evaluate the rehabilitation programmes for these patients

SPG10 is a rare cause of spastic paraplegia in European families

Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date.Objective: To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype.Patients and methods: 80 index patients from families with autosomal dominant HSP were investigated for SPG10 mutations by direct sequencing of the KIF5A motor domain. Additionally, the whole gene was sequenced in 20 of these families.Results: Three novel KIF5A mutations were detected in German families, including one missense mutation (c.759G>T, p.K253N), one in frame deletion (c.768_770delCAA, p.N256del) and one splice site mutation (c.217G>A). Onset of gait disturbance varied from infancy to 30 years of age. All patients presented clinically with pure HSP, but a subclinical sensory--motor neuropathy was detected by neurophysiology studies.Conclusions: SPG10 accounts for approximately 3% of European autosomal dominant HSP families. All mutations affect the motor domain of kinesin and thus most likely impair axonal transport. Clinically, SPG10 is characterised by spastic paraplegia with mostly subclinical peripheral neuropathy

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed 12 ARHSP-TCC families, refined the SPG11 candidate interval and identified ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland. The mutations were either nonsense or insertions and deletions leading to a frameshift, suggesting a loss-of-function mechanism. The identification of the function of the gene will provide insight into the mechanisms leading to the degeneration of the corticospinal tract and other brain structures in this frequent form of ARHSP

Prediction of functional outcome after spinal cord injury: a task for the rehabilitation team and the patient

Study design: Descriptive analysis of data gathered in an information system.Objectives: To explore the predictions of professionals and patients regarding functional outcome after spinal cord injury related to the final results after inpatient rehabilitation, in order to make prognostics of rehabilitation outcome more successful and enlarge the role of the patient in selecting realistic rehabilitation goals.Methods: Data from 55 patients with spinal cord injury admitted to the rehabilitation centre. Expectations of the rehabilitation team and the patients regarding future independence in performing six daily activities were compared to the functional results at discharge. The results of patients with different level and extent of lesion were analyzed.Results: In 52% of all performed skills, independence was achieved at discharge. Professionals and patients made similar predictions. If they both expected independence after rehabilitation, 90% of the skills were performed independently at discharge. If they both did not expect independence only 3% of the functional results were positive. Of all combined predictions 64% was correct. Correct predictions were most often found regarding self-care skills of patients with paraplegia and regarding mobility of patients with complete lesions. Prediction of self-care outcome of patients with tetraplegia is far more complicated. There was a considerable variation in predictions of mobility potential, especially regarding patients with incomplete lesions. If the team and patients agreed upon expected independence in mobility skills of these patients, the final results were mostly positive.Conclusions: Prediction of functional outcome after spinal cord injury was most successful if the expectations of the team and patients were combined. Prognosis of self-care outcome of patients with paraplegia and mobility potential of patients with complete spinal cord lesions was usually clear at admission. However, selection of realistic goals concerning self-care skills of patients with tetraplegia and mobility skills of patients with incomplete lesions is far more complicated. Gradual adjustment of objectives is needed during the rehabilitation process in close collaboration between the professionals and the patients

Effects of Disability, Gender, and Level of Supervision on Ratings of Job Applicants

Using ratings of hypothetical job applicants with and without a disability obtained from both fulltime workers (n = 88) and undergraduates (n = 98), we examined the effects of disability (paraplegia, epilepsy, clinical depression, or non-disabled), gender, and nature of the job (supervisory or non-supervisory) on five job-relevant dependent measures. Contrary to our hypothesis, applicants with a disability were rated significantly higher in activity and potency than applicants without a disability. Further, also contrary to our predictions, gender and job type did not moderate the relationship between disability and applicant ratings. Post-hoc analyses revealed a significant gender by job type interaction; female applicants were viewed as more qualified than male applicants for the non-supervisory position, but the male applicants were viewed as more qualified than female applicants for the supervisory position. We use the flexible correction model (Wegener & Petty, 1997) to explicate the findings. Limitations and implications for future research on attitudes toward individuals with disabilities are discussed

Hierarchical Gaussian process mixtures for regression

As a result of their good performance in practice and their desirable analytical properties, Gaussian process regression models are becoming increasingly of interest in statistics, engineering and other fields. However, two major problems arise when the model is applied to a large data-set with repeated measurements. One stems from the systematic heterogeneity among the different replications, and the other is the requirement to invert a covariance matrix which is involved in the implementation of the model. The dimension of this matrix equals the sample size of the training data-set. In this paper, a Gaussian process mixture model for regression is proposed for dealing with the above two problems, and a hybrid Markov chain Monte Carlo (MCMC) algorithm is used for its implementation. Application to a real data-set is reported

A perspective on the control of FES-supported standing

This special section is about the control of electrical stimulators to restore standing functions to paraplegics. It addresses several important topics regarding the interactions of the intact central nervous systems (CNS) with the artificial control system. The topics are as follows: how paraplegics use their arms to help themselves stand up with functional electrical stimulation (FES); the user-driven artificial control of FESsupported standing up; a controller which is promising for the control of sitting down; the application of reinforcement machine learning for the controllers of standing up; arms-free\ud standing with voluntary upper body balancing and artificially controlled ankle stiffness; and cognitive feedback in balancing. This Commentary introduces the papers in this section and relates them to earlier research

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity.

Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the mitochondria and endoplasmic reticulum (ER) and facilitates ER-mitochondria interactions.2 In addition to the HSP phenotype, REEP1 has been associated with an autosomal dominant spinal type of Charcot-Marie-Tooth disease in 2 families.3 More recently, a patient with homozygous REEP1 mutation with a much more severe phenotype akin to spinal muscular atrophy with respiratory distress type 1 (SMARD1) was reported.4 In this report, we present a patient with a homozygous mutation in REEP1 manifesting a severe congenital distal spinal muscular atrophy (SMA) with diaphragmatic paralysis, expanding the phenotype from mild autosomal dominant HSP through to severe recessive distal SMA pattern