Fernández-Pérez Juan José, Mascaraque-Ruiz Paloma, Martín Gómez Carlos, Martínez-Caballero Ignacio, Otón Teresa, Carmona Loreto, Lara Sergio Lerma
Grupo de Investigación en Fisioterapia Toledo (GIFTO), Facultad de Fisioterapia y Enfermería, Universidad Castilla-La Mancha, 45071 Toledo, Spain.
Facultad de Ciencias de la Salud, CSEU La Salle, UAM, 28023 Madrid, Spain.
Children (Basel). 2022 Aug 19;9(8):1255. doi: 10.3390/children9081255.
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.
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).
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.
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.
描述患有斯蒂克勒综合征（SS）的西班牙儿童和青少年的生活质量及日常功能，并估计具有代表性样本中相关疾病特征的患病率。
通过西班牙SS协会的电话招募对患有SS的儿童和青少年进行横断面研究。所有参与者均接受结构化临床访谈，并填写报告其生活质量的问卷（欧洲五维健康量表、TSK - 11、儿童健康评估问卷和儿童生活质量量表）。采用95%置信区间（95%CI）估计与该综合征相关的主要特征的患病率以及问卷的平均得分。
招募的样本包括26人，主要为儿童（平均年龄10.4±4.5（标准差），范围：5 - 14岁），男性占65.4%。SS特征的患病率估计如下：中度疼痛发生率为52%，听力损失发生率为67%（95%CI：54.8至91.3），近视发生率为96%（95%CI：87.2至104.4）。生活质量指数的平均得分如下：TSK - 11为22.4（95%CI：19.2至25.5）（±7.5）；儿童生活质量量表为76.2（95%CI：68.8至83.6）（±17.1），欧洲五维健康量表为0.8（95%CI：0.7至0.9）（±0.3），儿童健康评估问卷功能指数为0.61（95%CI：0.24至1.0）（±0.9）。
我们的结果证实了与该综合征相关表现的高度变异性，视力和听力缺陷、疼痛及颌面改变的患病率较高。这些发现可能有助于发现该人群中最普遍的问题，这可能是治疗患有SS的儿童和青少年时需要解决的目标。
