Health-related problems and quality of life in patients with syndromic and complex craniosynostosis | SpringerLink
A cross-sectional comparative study was performed in patients 4–18 years of age, with a diagnosis of syndromic or complex craniosynostosis. All patients were treated at the craniofacial unit of a tertiary pediatric hospital. Patients were included in the study if they had craniosynostosis associated with Apert, Crouzon, Pfeiffer, Saethre–Chotzen, Muenke syndrome or complex craniosynostosis. Syndrome diagnosis was based on genetic testing. Complex craniosynostosis was defined as the premature closure of two or more sutures in the absence of a genetic mutation. Because Crouzon and Pfeiffer syndrome cannot be distinguished from each other genetically, they were considered a homogeneous group in this study.
The health-related quality of life was assessed using the HUI-3 questionnaire [13, 14]. The HUI is developed to measure health-related quality of life and is applicable in clinical studies. The HUI is suitable for patients of 5 years and older, and for children under the age of 8 years a proxy assessment is recommended. Because we approached a large group of patients younger than 8 years and there is a high prevalence of cognitive impairment in patients with syndromic craniosynostosis, we requested the parents to complete the questionnaire. Patients were compared to normative data from a general Dutch population survey.15 It were also the parents who completed the questionnaire in the Dutch population survey. Based on the questionnaire, subjects were classified according to the HUI-3 classification system. The HUI is a utility (preference) based scoring system for measuring comprehensive health status and health-related quality of life, consisting of eight attributes. Each attribute was scored from 1 (no limitations) to 4, 5 or 6 (severe limitations). Single attribute utility scores range from 1.00 to 0.00, where perfect health is 1.00 and dead is 0.00. Multi-attribute utility scores, indicating overall health, are calculated based on single attribute scores [8, 18]. The multi-attribute HUI score can be negative, which indicates a state described as worse than dead. Next to the HUI, the Visual Analogue Scale (VAS) was used to rate parent-perceived overall health of the child, with a score ranging from 0 (worst health) to 100 (best health). The questionnaire was once sent by mail once.
From the eight attributes of the HUI-3, vision, hearing and intelligence can be measured objectively. Therefore, we collected data of vision, hearing and intelligence to compare to the corresponding HUI-3 attributes. Data of vision was retrospectively collected. Vision is routinely checked with a Snellen chart by our pediatric ophthalmologist. Data of hearing was cross-sectionally gathered as part of another study [5]. Hearing was tested by a pediatric audiologist with pure tone audiometry. Hearing loss was expressed as the average hearing loss at 500, 1,000 and 2,000 Hz of the best ear. Intelligence was tested by a pediatric psychologist with the Wechsler Intelligence Scale for Children (WISC)-III, as part of a prospective study.
Statistical analysis
Mann–Whitney U-test was used to compare means within the syndrome groups and between the syndrome groups and the normative population. Pearson’s chi-square test was used to test correlation. A two-sided p ≤ 0.05 was considered significant. All analyses were performed using SPSS 16.0 (SPSS Inc., Chicago, IL, USA).
