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.