The experience of children with Prader-Willi Syndrome using long-term non-invasive ventilation

Prader-Willi Syndrome (PWS) is a genetic disorder which can predispose to sleep-disordered breathing due to multiple factors. The prevalence of obstructive sleep apnoea in children with PWS is just under 80%; central sleep apnoea is also a noted feature (1). Long-term non-invasive ventilation (LTV) is used in the management of sleep-disordered breathing; good compliance and adherence are important in its efficacy - behavioural difficulties associated with PWS can impact on this. We designed a telephone questionnaire to examine the perception of LTV, including use of the mask, equipment and approach to initiation. We spoke with the parents of 4 children in our cohort with PWS who have been on LTV for more than 12 months to identify factors to optimise LTV use in this population. The ages ranged from 2–12yo; 2 boys, 2 girls. Parents reported issues with establishing a routine on NIV. Feedback also suggested that home sleep studies may be less disruptive to established routines. We discussed the use of telemonitoring; most parents reported interest, although some reported concern regarding use of equipment at home. All parents reported improved sleep quality, behaviour and perceived development with use of NIV; this benefit mostly occurred after 1-2 months. The parents of our cohort reported a perceived benefit to sleep quality, concentration and behaviour following LTV initiation. Behavioural characteristics associated with PWS can impact compliance and tolerance of LTV; it would be beneficial to adapt our approach to follow-up and potentially the initiation process accordingly. 1- Gillett ESet al. Disorders of Sleep and Ventilatory Control in Prader-Willi Syndrome. Diseases.2016 Jul 8;4(3):23