Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

OBJECTIVE: To define phenotypic groups and identify predictors of disease severity in patients with phosphoglucomutase-1 deficiency (PGM1-CDG). STUDY DESIGN: We evaluated 27 patients with PGM1-CDG who were divided into 3 phenotypic groups, and group assignment was validated by a scoring system, the Tulane PGM1-CDG Rating Scale (TPCRS). This scale evaluates measurable clinical features of PGM1-CDG. We examined the relationship between genotype, enzyme activity, and TPCRS score by using regression analysis. Associations between the most common clinical features and disease severity were evaluated by principal component analysis. RESULTS: We found a statistically significant stratification of the TPCRS scores among the phenotypic groups (P < .001). Regression analysis showed that there is no significant correlation between genotype, enzyme activity, and TPCRS score. Principal component analysis identified 5 variables that contributed to 54% variance in the cohort and are predictive of disease severity: congenital malformation, cardiac involvement, endocrine deficiency, myopathy, and growth. CONCLUSIONS: We established a scoring algorithm to reliably evaluate disease severity in patients with PGM1-CDG on the basis of their clinical history and presentation. We also identified 5 clinical features that are predictors of disease severity; 2 of these features can be evaluated by physical examination, without the need for specific diagnostic testing and thus allow for rapid assessment and initiation of therapy.

Validation of Spanish language dyspepsia questionnaire.

No dyspepsia-specific questionnaire currently exists in Spanish. The Spanish Language Dyspepsia Questionnaire (SLDQ) was developed based on Rome dyspepsia criteria, other questionnaires, and common symptoms. Self-reported normal and dyspeptic volunteers (N = 63) in Chiapas, Mexico, participated in a validation study. We assessed intra- and interrater reliability by test-retest studies and established validity by both correlation to the Short Form-36 (SF-36) and comparison of scores between normals and dyspeptics. The total SLDQ score showed a wide distribution (range 0-78, mean 23.7 +/- 21.9). Internal reliability of the SLDQ was high (Cronbach's a = 0.93). Intra- and interrater reliability were excellent (scores from the first and second interviews not statistically different; P = 0.94; intraclass correlation coefficient = 0.96). SLDQ scales correlated appropriately with the SF-36. The SLDQ distinguished self-classified normals from dyspeptics (P < 0.001). The SLDQ fills the unmet need for a valid, reproducible, and multidimensional Spanish-language instrument to measure dyspepsia. Additionally, we have made suggestions for the development of symptom-quantifying questionnaires.