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

Area of Science:

• Medical research
• Quality of Life Studies
• Genetics and rare diseases

Background:

• Treacher Collins syndrome presents with diverse clinical features, impacting airway and hearing.
• Multidisciplinary care is crucial for managing complex craniofacial conditions.

Purpose of the Study:

• To evaluate patient-reported quality of life (QoL) in individuals with Treacher Collins syndrome.
• To compare QoL scores of Treacher Collins patients with a control group.

Main Methods:

• The World Health Organization Quality of Life (WHOQOL-100) questionnaire was administered to assess QoL.
• The Siviero scale categorized QoL as unsatisfactory, intermediate, or satisfactory.
• Analysis of variance (ANOVA) compared scores between Treacher Collins patients and 2342 controls.

Main Results:

• Treacher Collins patients generally reported intermediate to satisfactory QoL across most WHOQOL-100 domains.
• A significant difference (P < 0.05) was observed in the environment domain compared to controls.
• Patients with Treacher Collins syndrome exhibited higher QoL scores in the environment domain than the control group.

Conclusions:

• Multidisciplinary treatment enables high-functioning Treacher Collins syndrome patients to achieve intermediate to satisfactory QoL.
• QoL outcomes for Treacher Collins patients align with those of unaffected individuals.
• The environment domain demonstrates a unique area of strength for Treacher Collins patients' QoL.