Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.

Mucopolysaccharidosis type VII (MPS VII) is an inherited disease characterized by the cellular accumulation of undegraded GAGs due to the deficiency of the lysosomal enzyme ß-glucuronidase. We describe a case of a 2-year-old female affected by a moderate form of MPS VII and submitted twice to HSCT with the aim of stabilizing skeletal problems and preventing neurocognitive alterations. The child underwent a second transplantation due to the rejection of the graft after a reduced-intensity conditioning in the first transplant. A myeloablative regimen allowed to achieve a stable full donor engraftment and normal enzyme levels during the 6 years of follow-up. Clinically, we observed stabilization of skeletal deformities and normal neurocognitive development. This is one of the few reports of mucopolysaccharidosis type VII treated with allogeneic HSCT.

Validity of the Spanish version of the Scoliosis Research Society-22 (SRS-22) Patient Questionnaire.

STUDY DESIGN: A cross-sectional multicenter study was performed to validate the Spanish version of the Scoliosis Research Society-22 (SRS-22) Patient Questionnaire. OBJECTIVES: To determine the construct validity and convergent validity of the instrument. METHODS: The Spanish version of the SRS-22 was given to 175 patients with scoliosis (mean age, 19 years old and 86% women). A subgroup of 31 patients also received the Quality of Life for Spine Deformities Profile (QLSDP). Construct validity was studied by factor analysis. Discriminant validity was assessed analyzing the relation between SRS-22 scores and the variables of deformity severity. Convergent validity as related to the QLSDP was studied with a multitrait-multimethod matrix analysis. RESULTS: Factor analysis offered a solution of four factors coherent with the dimensions of the original instrument. SRS-22 scores were worse in older patients (r = -0.34); patients using analgesics demonstrated lower scores (P < 0.001). Patients treated with a brace had a poorer self-image and were less satisfied with their treatment (P < 0.001) than the other treatment groups. Angular improvement of the curves was associated with better self-image scores (r = 0.34). The SRS-22 and QLSDP demonstrated high correlation coefficients in the convergent validity tests (r = 0.84). CONCLUSION: The Spanish version of the SRS-22 is valid. It has a factorial structure similar to that of the original questionnaire. Moreover, it relates to known severity characteristics of the disease, distinguishes among scoliosis patient groups, and shows concordant values with another valid instrument for measuring self-perceived health.

The Spanish version of the SRS-22 patient questionnaire for idiopathic scoliosis: transcultural adaptation and reliability analysis.

STUDY DESIGN: Validation of the transcultural adaptation of a questionnaire for measuring health-related quality of life. OBJECTIVES: To translate and culturally adapt the SRS-22 questionnaire to Spanish. To determine the metric qualities (internal consistency and test-retest reproducibility) of this questionnaire. SUMMARY OF BACKGROUND DATA: The SRS-22 Patient Questionnaire has proven to be a valid instrument for clinical assessment of patients with idiopathic scoliosis. The widespread use of the SRS-22 in non-English-speaking countries requires its transcultural adaptation. METHODS: Transcultural adaptation of the SRS-22 was carried out according to the International Quality of Life Assessment Project guidelines and included two translations and two back-translations of the material. A committee of experts decided on the final version. The questionnaire was administered to 175 individuals (152 women and 23 men) with idiopathic scoliosis. The mean age of the participants at the time they received the questionnaire was 18.9 years, thoracic curve magnitude was 28.8 degrees, and lumbar curve magnitude was 28.1 degrees. At this time, 85 patients had been treated surgically, 45 had been treated with orthesis, and 45 were under observation. A subgroup of 30 patients completed the questionnaire a second time 1 week later. Internal consistency was determined with Cronbach's alpha coefficient and test-retest reliability with the intraclass correlation coefficient. RESULTS: The overall alpha coefficient of the questionnaire was 0.89. Coefficients for individual domains were as follows: function/activity, 0.67; pain, 0.81; mental health, 0.83; self-image, 0.73; and satisfaction, 0.78. The questionnaire as a whole had an intraclass correlation coefficient of 0.96. Intraclass correlation coefficients for individual domains were as follows: pain, 0.93; function, 0.82; self-image, 0.94; mental health, 0.94; and satisfaction, 0.98. CONCLUSIONS: The Spanish version of the SRS-22 Patient Questionnaire demonstrated adequate internal consistency for the majority of domains and excellent reproducibility. These results suggest that the process of adaptation has produced an instrument that is apparently equivalent to the original and suitable for clinical research.