Rickets and osteomalacia that manifest as lower extremity abnormalities create a significant burden in the daily lives of children1
Growth
Children with XLH experience delayed growth resulting in short stature.1
PAIN AND LIMITED PHYSICAL FUNCTION
Children with XLH had heightened pain and decreased physical activity relative to children without XLH.2
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 six scales, which include upper extremity and physical function; transfer and basic mobility; sports/physical functioning; pain/comfort; happiness; and global functioning.1
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.2
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.2
SOCIAL AND EMOTIONAL WELLNESS
Children with XLH present with short stature and lower extremity abnormalities, which may affect their mental health and self-esteem.2
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.3
The data is taken from a burden-of-disease study conducted in 90 pediatric patients with XLH.2 This component is from an international survey of parents of children with XLH which reported below normal health-related quality of life (HRQoL) assessments.2
Symptoms of XLH that begin in childhood will progress into adulthood
References:
1. Klepper S. Measures of pediatric function: Child Health Assessment Questionnaire (C-HAQ), Juvenile Arthritis Functional Assessment Scale (JAFAS), Pediatric Outcomes Data Collection Instrument (PODCI), and Activities Scale for Kids (ASK). Arthritis Care Res. 2011;63:S371-S382. doi:10.1002/acr.20635. 2. 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. 3. Marriage and Family Therapy Center Handbook. Auburn University website. http://www.humsci.auburn.edu/hdfs/files/AUMFT2017_CenterHandbook.pdf. Updated March 31, 2017. Accessed March 6, 2018.
