SUN-349 Characterizing Functional Performance in Adults with Hypophosphatasia

Introduction: Limited data exist regarding physical and cognitive functioning of adults with hypophosphatasia (HPP), and there are no guidelines for evaluation by physical therapists (PT), occupational therapists (OT), or speech-language pathologists (SLP). We evaluated physical and cognitive functioning among adults with HPP through comprehensive assessments and patient reported outcome tools. Methods: Sixteen participants with HPP (median age 42 (32.5–50.5) yrs, 73% female, 100% Caucasian, 50% on enzyme replacement therapy) completed standardized assessments of mobility, balance, fine motor control, activities of daily living and cognition, as well as self-reported measures of health-related quality of life, fatigue, depression and anxiety. Results: Compared with normative data from community dwelling adults, participants traveled less distance on a Six-Minute Walk Test (1,376 ± 431** ft vs 1873±299) and had slower gait on a 10-Meter Walk Test (1.04±0.21 vs 1.39–1.46 m/s). Participants were slower to respond on the Nine Hole Peg Test (20.6±2.4s** for right & 21.7±2.4s** for left hand vs 16.5s to18.5s), and 2 had an abnormally slow reaction time via Dynavision (0.9s* [0.85,0.96], functional speed is <1.15s). 20% scored in the low average/borderline range of performance on the Repeatable Battery for the Assessment of Neuropsychological Status, suggesting potential cognitive impairment. On the Short Form-36, 75% reported limitations in their ability to fulfill life roles due to physical problems (25%±39%ile**), 75% reported below average energy (30%±23ile**), and 100% rated their health as unlikely to improve (32%±15%ile**). Fatigue Severity Scale scores were well above the median for a healthy population (47 [34,60.5]* vs 2.3). Median scores for Depression, Anxiety, and Stress were within the normal range, but moderately severe depression was reported by 4 participants. Participants reported moderate (4), severe (1), or extremely severe (1) anxiety; and 4 reported severe (2) or extremely severe (2) stress. Conclusions: Objective functional assessments indicate mild deficits, but participants self-reported significant limitations due to physical dysfunction, indicating that current objective testing may not be sufficient in the HPP population. Impaired reaction time may indicate potential safety concerns with driving or certain occupations, and screening may be indicated. A subgroup of participants was significantly affected by depression, stress, and/ or anxiety. Guidelines and additional assessment tools should be created to further evaluate physical and cognitive functioning among adults with HPP. The use of PT, OT, and SLP specialists can aid in establishing baseline assessment of impairment and developing treatment plans with objective metrics for assessing efficacy of treatment. *median **mean