Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report.

A 9-year-old boy with a history of lipoma excision and laminectomy at the Th10-11 levels, resulting in incomplete paraparesis and neurogenic bladder, was admitted for a comprehensive rehabilitation programme. Physical examination revealed an ipsilateral focal dermal hypoplastic defect within an area of alopecia and a subcutaneous lipomatous tissue on the left temporo-parietal region of the scalp. Iris coloboma and chorioretinitis were diagnosed on the left eye. He also had mild mental retardation and triparesis. Magnetic resonance imaging of the brain and the spine demonstrated hyperintense masses which were consistent with lipoma. Although in the literature three cases of encephalocraniocutaneous lipomatosis (ECCL) concomitant with spinal cord involvement have been reported, to our knowledge iris coloboma and chorioretinitis in ECCL have not been reported previously. In conclusion, we would like to stress that aside from known ophthalmological malformations, iris coloboma and chorioretinitis may also be observed in ECCL and that all patients who have been diagnosed as having ECCL should be examined for spinal cord involvement.

Rehabilitation of stroke patients: clinical profile and functional outcome.

OBJECTIVE: To describe the nature of functional recovery of 67 Turkish survivors of first-episode stroke who were referred for inpatient rehabilitation and to identify the variables that best predict discharge functional status of these patients. DESIGN: A retrospective, descriptive study of the demographic and clinical profile and the functional status of patients with first-episode stroke. RESULTS: The mean age was 60 (11.8, SD) yr, and 35.8% were men. The mean onset-admission interval and length of stay were 62.9 and 97.1 days, respectively. The mean functional status score, as measured by the FIM instrument, at the time of admission was 75 compared with 86.7 at the time of discharge, showing a mean improvement of 11.7. Although rehabilitation gains were similar for the right- and left-side involved groups, patients with right-side paresis had lower FIM scores at the time of admission than did the left-side involved group. Significant predictors of functional status at the time of discharge were admission functional status score and onset-admission interval. CONCLUSION: Knowledge of these predictors can contribute to more appropriate treatment and discharge planning.

Adaptation of the modified Barthel Index for use in physical medicine and rehabilitation in Turkey.

The aim of this study was to adapt the modified Barthel Index for Turkey and to determine its reliability and validity. After the translation procedure, 50 stroke patients and 50 spinal cord injury patients, undergoing inpatient rehabilitation were assessed by the newly adapted index at admission and discharge. Reliability was tested using internal consistency, inter-rater reliability and the intra-class correlation coefficient. Construct validity was assessed by association with impairments (Brunnstrom motor stages in stroke, American Spinal Injury Association motor/sensory scores and impairment scale in spinal cord injury) and by Rasch analysis. Internal consistency was good at 0.93 for stroke, and 0.88 for spinal cord injury. The level of agreement between two raters was sufficient with Kappa levels of above 0.5 for spinal cord injury and above 0.6 for stroke. Intra-class correlation coefficients were 0.99 and 0.77 for stroke and spinal cord injury, respectively. The newly adapted index showed expected associations with the impairment scales, confirming its construct validity. However, Rasch analysis showed that bladder and bowel items compromise unidimensionality. In conclusion, adaptation of the modified Barthel Index has been successful and it can be used in Turkey as long as its limitations are recognized.

The development and psychometric assessment of the Turkish version of the Nottingham Health Profile.

The Nottingham Health Profile (NHP) is a widely used measure of perceived health status. The aim of the present study was to adapt the NHP for use in Turkey and to test its psychometric properties. Following translation and testing for its face and content validity, 50 patients with osteoarthritis were interviewed on two occasions. Each interview included administration of the NHP and the Stanford Health Assessment Questionnaire (HAQ), a measure of functional disability. Test-retest reliability of the new version was satisfactory and comparable with other available language versions. As predicted, high correlations were found between the HAQ and the physical mobility, pain and energy level sections of the NHP and low correlations between the HAQ and emotional reactions, social isolation and sleep, confirming the construct validity of the NHP. It is concluded that the adaptation of the NHP into Turkish was successful but that additional studies are required to assess its suitability for use with other patient populations and its equivalence to other language versions of the measure.

Compliance with bladder management in spinal cord injury patients.

STUDY DESIGN: Retrospective analysis of medical records on spinal cord injury (SCI) patients with neuropathic bladder. OBJECTIVE: To determine SCI patients' compliance with the method of bladder management they used on discharge from inpatient rehabilitation. SETTING: Ankara University Medical School, Department of Physical Medicine and Rehabilitation, Spinal Cord Injury Unit, which treats patients referred from throughout Turkey. METHODS: The bladder management method of 50 new SCI patients was noted at admission, discharge and follow-up. Reasons for changing the initial method were documented. For analysis, patients were grouped by gender, level and completeness of injury. Compliance with bladder management method was compared between these groups by chi-square test. RESULTS: The method of bladder management at admission was indwelling catheter (IC) for 86% of the patients. Most were switched to clean intermittent catheterisation (CIC) by rehabilitation discharge. Of 38 patients (76%) on CIC at discharge, 20 (52%) discontinued this method and reverted to IC during follow-up. Compliance with CIC was lower for women, for tetraplegics, and for those with complete injury. Dependence on care givers, severe spasticity interfering with catheterisation, incontinence despite anticholinergic agents, and lack of availability of external collective devices for female patients were the main reasons for low compliance with CIC. CONCLUSION: The bladder management method of SCI patients should be selected so as to be suitable to the patients' life style. Besides reducing morbidity, it also has to enhance the quality of life.

Disability in ankylosing spondylitis.

PURPOSE: This study was designed to examine the functional loss in ankylosing spondylitis and explore the relationship between disability and various factors such as age, disease duration, disease activity, spinal mobility, chest expansion, peripheral joint involvement, radiological changes, and psychosocial well-being. METHOD: Forty-two patients were included in this cross-sectional study. RESULTS: The results showed that 37 patients had mild to moderate disability, two patients had severe disability, and three patients did not report any functional loss. Spearman correlation analyses showed that disability was strongly correlated with spinal mobility measures, disease activity measures, and disease duration. Also, patients with peripheral joint involvement had greater disability. When the predictive effect of five independent variables was studied by multiple regression analysis, it was found that the most powerful predictors of functional loss in AS patients were cervical rotation, modified Schober's test, and pain. CONCLUSIONS: These data suggest that functional consequences of AS are constituted by multiple impairments and each needs to be managed by an integrated physiatric approach.