Development and Validation of a Pierre Robin Sequence Quality of Life Instrument

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PROJECT SUMMARY ABSTRACT Children with Pierre Robin Sequence (PRS) are born with micrognathia (small jaw), glossoptosis (tongue pushed back), and airway obstruction; many have cleft palates. PRS patients have breathing and feeding difficulties 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 to bypass upper airway obstruction, surgical feeding tubes for nutrition, or major surgeries to improve their craniofacial anomaly. In addition to the child’s symptoms, parents often struggle to manage their own psychosocial and emotional response to their child’s disorder. Current QoL instruments are too broad in scope and focused on different populations to adequately measure QoL in this population. This not only limits understanding of these patients’ holistic disease burden, it constrains comparative effectiveness studies to outcomes that may be less relevant to patients and families. Our objective during the R21 period is to develop and perform preliminary validation of a PRS-specific QoL instrument measuring both child symptoms and family QoL. Specifically, we will develop PRS QoL items from from focus groups with parents of children with PRS. To achieve this, additional focus groups with PRS families will be conducted, allowing the inclusion of patients from different backgrounds, older age groups, and with treatments that were not included in our original sample. Transcripts will be coded for key themes and concepts. Items developed using the language, themes, and concepts from these focus groups will provide the PRS QoL content validity. Items will be evaluated through cognitive interviews with PRS families and iteratively revised and retested until a preliminary instrument is developed. This instrument will be administered to a representative sample of PRS parents. The instrument’s psychometric characteristics will be assessed with classic item analysis and qualitative techniques, and redundant or ineffective items will be eliminated. The resulting instrument will be tested for validity and reliability. Construct validity will be assessed using responses from PRS families with varying ages, whose scores on the PRS QoL instrument will be compared with scores on validated instruments assessing general QoL, the impact of sleep apnea, and the impact of children’s illness on families. Additionally, PRS QoL scores will be compared with objective measures of airway function and feeding, such as polysomnography reports and feeding tube status. Reliability will be assessed through test-retest assessment. The resulting, preliminarily validated QoL instrument will be a comprehensive measure of disease burden allowing providers and clinical researchers to measure the impact of PRS on children and families. This novel instrument will advance our understanding of the impact this disorder has on families, representing a substantial shift from previous assessments in this vulnerable population. It will also facilitate critically needed future studies comparing PRS treatments.