Classic ataxia-telangiectasia: the phenotype of long-term survivors.

OBJECTIVE: Patients with classic ataxia-telangiectasia (A-T) generally die in the second or third decade of life. Clinical descriptions of A-T tend to focus on the symptoms at presentation. However, during the course of the disease, other symptoms and complications emerge. As long-term survivors with classic A-T develop a complex multisystem disorder with a largely unknown extent and severity, we aimed to comprehensively assess their full clinical picture. METHODS: Data from Dutch patients with classic A-T above the age of 30 years were retrospectively collected. In addition, we searched the literature for descriptions of classic A-T patients who survived beyond the age of 30 years. RESULTS: In the Dutch cohort, seven classic A-T patients survived beyond 30 years of age. Fourteen additional patients were retrieved by the literature search. Common problems in older patients with classic A-T were linked to ageing. Most patients had pulmonary, endocrine, cardiovascular, and gastro-intestinal problems. All patients had a tetraparesis with contractures. This led to immobilization and frequent hospital admissions. Most patients expressed the wish to no longer undergo intensive medical treatments, and waived follow-up programs. CONCLUSIONS: Paucity of descriptions in the literature, and withdrawal from medical care complicate the acquisition of follow-up data on the natural history of long-term survivors. Irrespective of these limitations, we have obtained impression of the many problems that these patients face when surviving beyond 30 years of age. Awareness of these problems is needed to guide follow-up, counselling, and (palliative) care; decisions about life-prolonging treatments should be well considered.

The usability of six physical performance tasks in a rehabilitation population with chronic low back pain.

OBJECTIVE: To examine the influence of task experience on the difference between test and retest and to assess test-retest reliability and limits of agreement of six performance tasks in chronic low back pain patients. These measures will be used to define the clinical usability. DESIGN: Test-retest of six performance tasks in a group of patients with no experience and a group of patients after previous experience with these tasks. SETTING: Three rehabilitation centres. SUBJECTS: Fifty-three patients with non-specific chronic low back pain. MAIN MEASURES: Five-minute walking, 50-ft (15 m) fast walking, sit-to-stand, loaded forward reach, 1-min stair-climbing and Progressive Isoinertial Lifting Evaluation (PILE). To assess the influence of task experience, differences between test and retest between both groups were tested using Mann-Whitney test. For both groups together, intraclass correlation coefficients (ICCs) and the limits of agreement using Bland and Altman plots were calculated. RESULTS: Thirty patients with no task experience and 23 patients who had already undertaken the tasks on at least two occasions participated. Both groups showed similar differences between test and retest. The test-retest reliability for the total study population was good to very high: ICC varied from 0.74 to 0.99. For the total study population, the limits of agreement expressed as percentage of the mean score of each task was low to moderate for 5-min walking and 1-min stair-climbing (21% and 20% respectively), moderate for 50-ft (15 m) fast walking, sit-to-stand and forward reach (33%, 29% and 36% respectively) and high for the PILE (48%). CONCLUSIONS: Task experience did not significantly influence test-retest differences. All tasks showed sufficient test-retest reliability. Based on the natural variability of the tasks, the 5-min walking and stair-climbing task, and to a lesser degree the 50-ft (15 m) walking, sit-to-stand and loaded forward reach, seem clinically useful. There are major concerns about the usability of the PILE.