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Patient-Reported Quality of Life in the Highest Functioning Patients With Treacher Collins Syndrome.

BACKGROUND: Treacher Collins syndrome has a wide variation of clinical presentation, including airway obstruction and hearing loss. The objective of this study was to assess patient-rated quality of life in Treacher Collins syndrome, who received multidisciplinary treatment at a specialized craniofacial hospital, and to compare their quality of life with a control sample.

METHODS: Treacher Collins patients under treatment in a multidisciplinary setting were assessed with the World Health Organization Quality of Life (WHOQOL-100) questionnaire. The Siviero scale was used to classify quality of life as unsatisfactory (scores below 25), intermediate (scores between 25 and 75), and satisfactory (scores above 75). Quality of life comparison between Treacher Collins patients and 2342 unaffected individuals from a previous database was performed using the analysis of variance test. Differences were considered significant at P < 0.05.

RESULTS: Treacher Collins patients demonstrated an overall intermediate and satisfactory (score >60%) quality of life in almost all WHOQOL-100 facets and domains. The comparison of the scores between unaffected individuals and Treacher Collins patients demonstrated a significant difference (P < 0.05) in the environment domain.

CONCLUSION: The highest functioning Treacher Collins syndrome patients under multidisciplinary treatment presented intermediate and satisfactory quality of life, consistent with quality of life scores of unaffected controls. In the environment domain, Treacher Collins patients presented even higher scores of quality of life than the control group.

CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.

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