Research Information System
Cerebellum, vol.24, no.5, 2025 (SCI-Expanded)
Unertan Syndrome (UTS) is rare seen a typical autosomal-recessive inheritance disease in the world. This is the first study in the literature that examined physical functioning of subjects suffering from UTS in detail. Five quadrupedal subjects and one bipedal-ataxic subject are presented in this study. Neurological status, activities of daily living, and physical functioning of the cases were assessed. Their parents’ level of influence was evaluated using the Impact on Family Scale. We examined all the cases in 2008 for the first time and in 2018 for final assessments. In the second visit in 2018, we found that all the cases had lower physical functioning and showed decreased independence in daily living activities. The quadrupedal subjects were still using quadrupedal gait pattern. We observed that their condition is getting worst as they get older. The parents reported that they influenced by their children’s situation. The results obtained from this study showed that UTS affects physical functioning and independence in daily living activities of the subjects. UTS affects parents’ lives negatively as well. Both UTS survivors and their parents should be included in an intensive rehabilitation program, including physiotherapy, ergotherapy, speech therapy, social support program, and psychotherapy to prevent health problems and to improve their quality of life.