SDS is a multisystem disorder with heterogenous clinical presentation. Neuro-cognitive impairments, intellectual disability and behavioural difficulties have been reported in previous studies.
Methods and patients We used validated child and parent reporting questionnaires (CHQ-CF87, CHQ-PF50) to explore QoL in children with SDS aged 5–18 years (followed at SDS multidisciplinary clinic at Leeds). 7 children and 1 of their parent completed the self-administered questionnaires. Data was analysed and interpreted as per scoring and interpretation manual provided with the questionnaires. Ethics approval was obtained.
Results Parents scored their child below reference sample for global health and behaviour; they recognised that they worried about their child’s health more than other people. There was discrepancy in scoring on some health domains between child and parent CHQ which could represent child’s lack of insight or better scoring by parents comparing their child’s health and behaviour with their peers.
Qualitative analysis revealed that majority of children reported good health and all experienced mild pain or discomfort. Most were happy, got on with friends, but admitted to arguing and recognised their health/behaviour caused family tension.
Parents reported difficulty concentrating, paying attention and argumentative behaviour. They expressed uncertainty about their child having a healthy life and reported their health/behaviour caused disruption of everyday family activities. Some parents reported their children having difficulties in activities like eating, dressing or going to toilet alone.
Conclusions Our findings identify important qualitative areas of concern and highlight potential areas for providing targeted support to children with SDS and their families.