Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non-neurologists. Internists and paediatricians specialized in IMDs assessed videos of 44 IMD patients who perform four specific neurological tests, to evaluate the presence and phenotype of a movement disorder. Initially, baseline assessments were performed without the tool. Eight months later, the same videos were assessed using an instructional video demonstrating the four neurological tests, and a screening tool including these tests with 14 yes/no questions regarding observed abnormalities. One hundred and forty-nine assessments were conducted by 15 metabolic internists and paediatricians. At baseline, 70% (105/149) of assessments correctly determined the presence of a movement disorder. Sensitivity of the tool was 68%. In the second measurement, when the outcome of the tool was considered decisive (with at least one positive answer indicating a movement disorder), 79% (117/149) of assessments were correct. Sensitivity of the tool increased to 87% (Chi-square = 15.75, p < 0.001). All severe and moderately severe movement disorders were recognized in the second measurement. The tool and instructional video did not enhance recognition of specific movement disorder phenotypes. However, the tool did improve the accuracy of treatment indications (chi-square = 4.000, p < 0.05). The correct use of the screening tool significantly increased the sensitivity and thereby the recognition of movement disorders in IMD patients, though referral to a neurologist remains necessary for phenotype identification.