Quality of Life in Children and Adolescents with Stickler Syndrome in Spain.

OBJECTIVE

To describe the quality of life and daily functioning of Spanish children and adolescents living with Stickler syndrome (SS) and to estimate the prevalence of associated disease features in a representative sample.

METHODS

A cross-sectional study of children and adolescents with SS were recruited via telephone calls through the Spanish SS Association. All participants underwent a structured clinical interview and filled in questionnaires reporting their quality of life (EuroQol-5D, TSK-11, CHAQ and PedsQoL). The prevalence of the main features associated with the syndrome and the mean scores of the questionnaires were estimated with 95% confidence intervals (95% CI).

RESULTS

The recruited sample included 26 persons who were mainly children (mean age 10.4 ± 4.5 (SD) range: 5-14) and male (65.4%). The prevalence estimates of SS features were as follows: the presence of moderate pain (52%), hearing loss 67% (95% CI: 54.8 to 91.3) and myopia 96% (95% CI: 87.2 to 104.4). The mean scores of the QoL indices were as follows: 22.4 (95% CI: 19.2 to 25.5) (±7.5) for TSK-11; 76.2 (95% CI: 68.8 to 83.6) (±17.1) for PedsQoL, 0.8 (95% CI: 0.7 to 0.9) (±0.3) for EQ-5D and 0.61 (95% CI: 0.24 to 1.0) (±0.9) for the cHAQ functional index.

CONCLUSIONS

Our results confirmed a high variability in syndrome-related manifestations, with a large prevalence of visual and hearing deficits, pain and maxillofacial alterations. These findings may facilitate the detection of the most prevalent problems in this population, which could be a target to be addressed during the treatment of children and adolescents with SS.