BURDEN OF DISEASE IN CHILDREN

Rickets and osteomalacia that manifest as lower extremity abnormalities create a significant burden in the daily lives of children1

Children with XLH experience delayed growth resulting in short stature.2

Children with XLH had heightened pain and decreased physical activity relative to children without XLH.1

Pediatric Orthopedic Society of North America Pediatric Outcomes Data Collection Instrument Score (POSNA-PODCI) is the result of a parent-reported questionnaire to assess overall health, pain, and ability to participate in normal daily activities, as well as in more vigorous activities associated with children. It contains seven scales, which include upper extremity and physical function; transfer and basic mobility; sports/physical functioning; pain/comfort; happiness; satisfaction; and expectations.3

The data is taken from a burden-of-disease study conducted in 90 pediatric patients with XLH.2 This component is a parent-reported survey to evaluate the overall health of their children, including pain and ability to participate in daily activities.1

Gait disturbances from muscular dysfunction, pain, restrictions in range of motion limit physical function in children. Some may even require the use of a walking device.1

Children with XLH present with short stature and lower extremity abnormalities, which may affect their mental health and self-esteem.1

The SF-10 Health Survey for Children is a 10-question, parent-completed survey that evaluates the physical functioning, role/social emotional-behavioral, role/social physical, bodily pain, general behavior, mental health, and self-esteem of children.4

The data is taken from a burden-of-disease study conducted in 90 pediatric patients with XLH.1 This component is from an international survey of parents of children with XLH which reported below normal health-related quality of life (HRQoL) assessments.1

References:

1. Skrinar A, Dvorak-Ewell M, Evins A, et al. The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey. J Endocr Soc. 2019;3(7):1321-1334. 2. Ruppe MD. X-linked hypophosphatemia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® University of Washington, Seattle; 1993-2022. Published February 9, 2012. Updated April 13, 2017. https://www.ncbi.nlm.nih.gov/books/NBK83985/ 3. Murali CN, Cuthbertson D, Slater B, et al. Pediatric outcomes data collection instrument is a useful patient-reported outcome measure for physical function in children with osteogenesis imperfecta. Genet Med. 2020;22(3):581-589. 4. Ramanuj PP, Granerød J, Davies NW, Conti S, Brown DW, Crowcroft NS. Quality of life and associated socio-clinical factors after encephalitis in children and adults in England: a population-based, prospective cohort study. PLoS One. 2014;9(7):e103496.