Children with arthrogryposis have impaired motion and strength secondary to joint contractures; however, these patients often achieve a higher level of physical function completing activities of daily living than may be anticipated6,7. As a result, impairment measures regarding physical function such as strength and range of motion may not accurately characterize the subjective experience of individuals. Understanding a patient’s perspective regarding their overall health, including both physical and psychosocial components, is an important component of caring for children with arthrogryposis. We found that PROMIS® function questionnaires discerned significant differences between children with arthrogryposis and a reference population, but psychosocial (peer relationships and pain) questionnaires did not.
A handful of tools exist that have been used to characterize the subjective experience of pediatric patients, including the Pediatric and Adolescent Outcome Data Collection Instrument (PODCI)21, the Pediatric Qualify of Life Scale (PedsQL)22, and most recently the Patient Reported Outcome Measure Information System (PROMIS® )8,9.
PROMIS® encompasses the WHO ICF-CY domains for people with chronic health conditions and its content has been mapped to the ICF classification system, which better allows for comparisons to be made across multiple health measurement systems. It also has been validated in a multitude of chronic conditions (both orthopaedic and non-orthopaedic), which allows for broader comparisons to be made. PROMIS® is also a low burden tool and easy to administer, as it has Short Forms for both child and parent-proxy reported questionnaires. Additionally, it can be uploaded into the electronic medical record and physicians can view the results before seeing the patient.
Using PROMIS®, we found that children and parent-proxies reported moderately impaired upper extremity function and mobility, but normal pain interference and excellent peer relationships in comparison to a reference population. Sixty three percent of children with arthrogryposis reported moderate to severe mobility impairment and 77% reported moderate to severe UE impairment. These findings are similar to a recent study of 29 children with UE arthrogryposis by Wall et al; their mean PROMIS® UE function score was 29 (31 for children with distal arthrogryposis and 22 for children with amyoplasia18).
While children with arthrogryposis reported moderately impaired mobility and UE function, 82% reported normal or mild pain interference and 98% reported excellent or good peer relationships. This is also consistent with the study by Wall et al, which reported scores within normal limits18. These findings are also similar to previous studies exploring psychosocial health in congenital abnormalities in general. In examining the CoULD registry, Bae and colleagues found that children with UE congenital abnormalities had better peer relationships and positive emotional states compared to the general population23. While long-term data is lacking, there is evidence to suggest that peer relationships and pain remain similar to the general population into adulthood. In a survey of adults with arthrogryposis, Nouraei and colleagues found that self-reported quality of life for individuals with arthrogryposis was comparable to the US general population for several areas of health including emotional, pain, and social well-being24.
This study is retrospective in design, which facilitates the ease of data collection, but it is a limitation because some information may be missing from the patient’s medical record. We are thus limited in data analysis by what was collected at the clinical visit. Similarly, a second limitation of this study is that the data only characterizes one specific point in time. Further studies are needed to examine if and how patients’ PROMIS® scores change over time, and in response to interventions. Additionally, PROMIS® can only be used to assess patients who are 5 years old or older. A similar tool is needed to assess pre-schoolers. Finally, this study may have some selection bias in that children with more severe arthrogryposis are more likely to be followed clinically than those with lesser impairment.
Despite these limitations, however, this study is the largest cohort yet to examine PROMIS® scores in children with arthrogryposis, with a broad distribution of patient characteristics, including age, gender, and race, which is most likely representative of patients seen at clinical centers treating children with arthrogryposis. Our study indicates that PROMIS® is a useful tool to evaluate and understand the challenges that children with arthrogryposis face. Future applications of PROMIS® in children with arthrogryposis include correlating PROMIS® scores with objective physical exam measures and sub-group analysis of patient characteristics/demographics and PROMIS® scores. Additionally, longitudinal studies that follow PROMIS® scores over time will be useful in determining the effects of clinical and/or surgical interventions throughout childhood.