Psychological health in adults with morquio syndrome

Abstract

Mucopolysaccharidosis type IV (MPSIV), also known as Morquio syndrome, is a progressive genetic condition which predominantly affects skeletal development. Research thus far has focused on physical manifestations, with little attention to psychological characteristics. As a first step in determining the natural occurrence of psychological symptoms in this population, we administered Achenbach measures of psychological functioning (ASEBA ASR and OASR), quality of life (SF-36), and pain severity (BPI) questionnaires to 20 adults with Morquio syndrome. 11/20 subjects (55%) scored within the symptomatic range on at least one or more ASEBA problem scales. These subjects also had higher pain severity scores (p = 0.051) and pain interference scores (p = 0.03) on the BPI. However, subjects with psychological symptoms did not differ significantly on QOL measures from those without psychological symptoms. Overall, subjects scored below the US mean only in physical health QOL (p < 0.001) on the SF-36, not mental health QOL. Implications of this study include the need for greater attention to psychological health in persons with Morquio syndrome, including regular assessment for psychological symptoms in addition to the quality of life measures typically used, as the latter may miss important information. Greater attention to psychological symptoms may help maximize overall health in adults with Morquio syndrome. Comparison with psychological studies on other lysosomal storage diseases suggests these results may be disease specific, rather than the result of living with chronic pain or having an LSD in general.