The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients

The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients

van Capelle C I; van der Beek N A M E; de Vries J M; van Doorn P A; Duivenvoorden H J; Leshner R T; Hagemans M L C; van der Ploeg A T

Journal of Inherited Metabolic Disease

2012

children; responsiveness; Medicine; Endocrinology & Metabolism; Genetics & Heredity; Research & Experimental; disease; scale; acid maltase deficiency; genotype-phenotype correlation; muscle function; muscular-dystrophy; natural course; validation; tone and motor problems; glycogen storage disease type II; tool development; scale development; motor function

Pompe disease is a lysosomal storage disorder characterized by progressive muscle weakness. With the emergence of new treatment options, psychometrically robust outcome measures are needed to monitor patients' clinical status. We constructed a motor function test that is easy and quick to use. The Quick Motor Function Test (QMFT) was constructed on the basis of the clinical expertise of several physicians involved in the care of Pompe patients; the Gross Motor Function Measure and the IPA/Erasmus MC Pompe survey. The test comprises 16 items. Validity and test reliability were determined in a cohort of 91 Pompe patients (5 to 76 years of age). In addition, responsiveness of the scale to changes in clinical condition over time was examined in a subgroup of 18 patients receiving treatment and 23 untreated patients. Interrater and intrarater reliabilities were good (intraclass correlation coefficients: 0.78 to 0.98 and 0.76 to 0.98). The test correlated strongly with proximal muscle strength assessed by hand held dynamometry and manual muscle testing (rs= 0.81, rs=0.89), and showed significant differences between patient groups with different disease severities. A clinical-empirical exploration to assess responsiveness showed promising results, albeit it should be repeated in a larger group of patients. In conclusion, the Quick Motor Function Test can reliably rate clinical severity and motor function in children and adults with Pompe disease.

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