PROJECT SUMMARY ABSTRACTChildren with Pierre Robin Sequence (PRS) are born with micrognathia (small jaw) glossoptosis (tonguepushed back) and airway obstruction; many have cleft palates. PRS patients have breathing and feedingdifficulties of varying degrees which can profoundly affect their own and their families quality of life (QoL).Many infants with PRS have complicated and tenuous early lives requiring surgeries such as tracheostomy tobypass upper airway obstruction surgical feeding tubes for nutrition or major surgeries to improve theircraniofacial anomaly. In addition to the childs symptoms parents often struggle to manage their ownpsychosocial and emotional response to their childs disorder. Current QoL instruments are too broad in scopeand focused on different populations to adequately measure QoL in this population. This not only limitsunderstanding of these patients holistic disease burden it constrains comparative effectiveness studies tooutcomes that may be less relevant to patients and families. Our objective during the R21 period is to developand perform preliminary validation of a PRS-specific QoL instrument measuring both child symptoms andfamily QoL. Specifically we will develop PRS QoL items from from focus groups with parents of children withPRS. To achieve this additional focus groups with PRS families will be conducted allowing the inclusion ofpatients from different backgrounds older age groups and with treatments that were not included in ouroriginal sample. Transcripts will be coded for key themes and concepts. Items developed using the languagethemes and concepts from these focus groups will provide the PRS QoL content validity. Items will beevaluated through cognitive interviews with PRS families and iteratively revised and retested until a preliminaryinstrument is developed. This instrument will be administered to a representative sample of PRS parents. Theinstruments psychometric characteristics will be assessed with classic item analysis and qualitativetechniques and redundant or ineffective items will be eliminated. The resulting instrument will be tested forvalidity and reliability. Construct validity will be assessed using responses from PRS families with varying ageswhose scores on the PRS QoL instrument will be compared with scores on validated instruments assessinggeneral QoL the impact of sleep apnea and the impact of childrens illness on families. Additionally PRS QoLscores will be compared with objective measures of airway function and feeding such as polysomnographyreports and feeding tube status. Reliability will be assessed through test-retest assessment. The resultingpreliminarily validated QoL instrument will be a comprehensive measure of disease burden allowing providersand clinical researchers to measure the impact of PRS on children and families. This novel instrument willadvance our understanding of the impact this disorder has on families representing a substantial shift fromprevious assessments in this vulnerable population. It will also facilitate critically needed future studiescomparing PRS treatments.