Abstract
BACKGROUND: Individuals with genetic disorders and autism often have feeding difficulties that differ from typically developing children. In CHARGE syndrome (coloboma occular, heart problems, choanal atresia, retardation of growth, genitourinary anomalies, ear malformations), more than 90% need initial tube feeding and over 75% have cranial nerve dysfunction, contributing to weak swallow/sucking. These features lead to feeding difficulties that may not be accurately captured using current validated questionnaires. OBJECTIVES: To develop a user-friendly scale for parents and clinicians to assess feeding difficulties in individuals with CHARGE syndrome across their lifespan, as well as have the scale be validated in autism and other genetic syndromes in the future. DESIGN/METHODS: The new feeding scale was adapted from the Pediatric Assessment Scale for Severe Feeding Problems (PASSFP), a validated scale that assesses feeding problems in typically developing children. Questions specific to CHARGE syndrome, other genetic syndromes, and autism were extracted from the current literature and reviewed by expert clinicians and feeding therapists. Ten parents piloted the new scale. It was then sent out, along with the PASSFP and general feeding history questions, to parents of individuals with CHARGE syndrome. A subset of parents completed the new scale again 2-4 weeks later to assess test-retest reliability. RESULTS: One hundred parents participated from around the world (Canada, USA, UK, Australia, New Zealand, Europe). Individuals with CHARGE syndrome had an average age of 10.9 years (SD 8.3, range 1-33). Most common feeding difficulties were swallowing (25%), chewing (19%), and mouth over-stuffing (16%). The new scale had good construct validity, as there was a significant effect for an increased number of feeding difficulty risk factors having higher scale scores (p<0.001). Face validity of the new scale was found to be high, as scores significantly differed between individuals whose parents described their current feeding difficulties as very mild, mild, moderate, severe, and very severe (p<0.001). Test-retest reliability was high, with a significant correlation between the first and second scale completions (r=0.94, p<0.001). The new scale also had a high level of internal consistency (cronbach’s alpha 0.91), indicating that each scale question performed well and did not need to be discarded. Lastly, there was significant convergent validity between the new scale and the PASSFP scale (r=-0.79, p<0.001), indicating that the new scale was assessing feeding difficulties well. CONCLUSION: The newly developed feeding scale for CHARGE syndrome is a reliable and valid tool, which can be used to provide both parents and clinicians a more accurate picture of oral feeding progress. The next steps are to validate this scale in individuals with autism and other genetic disorders.