BackgroundHematopoietic stem cell transplants, alongside enzyme replacement therapy and good multi-disciplinary care, have dramatically improved the life expectancy in children with Mucopolysaccharidosis (MPS) I, with better objective and functional outcomes. Despite these improvements, children with both the attenuated (non-Hurler) and severe (Hurler) variants of the disease have marked residual morbidity. Children with MPS I suffer with head and neck disease including obstructive sleep apnoea and hearing loss. The impact of these on quality of life has been poorly researched and no previous work has been published looking at patients’ perception of their own health, an important domain when considering the impact of treatment.MethodsThis exploratory qualitative study aimed to discover the effect of head and neck disease, alongside that of MPS I as a whole, on the quality of life of affected children.A grounded theory approach was used to conduct this study. Children and their parents were invited to participate in semi-structured interviews. The transcribed interviews were coded and emergent themes explored until saturation occurred.ResultsThe families of eleven children with MPS I were interviewed, five with Hurler’s and six with the attenuated non-Hurler’s. Important themes to emerge were- the fear of dying associated with obstructive sleep apnoea, difficulties communicating at school due to the delayed acquisition of language, chronic pain and restricted mobility, physical differences and restricted participation in social activities such as sports secondary to the musculoskeletal disease burden. The overall theme running through the analysis was the desire to fit in with ones peers.ConclusionParents and children with MPS 1 worry about ‘fitting-in’ with broader society. The presence of airway disease has a profound impact on the emotional well being of parents whilst language delay and musculoskeletal disease have the biggest impact on the quality of life of the children themselves. It is important to understand the impact of MPS I on the quality of life of children and their families so that we may improve future treatment and management of this sub-group of children who have an increasing life span.

Background: Hematopoietic stem cell transplants, alongside enzyme replacement therapy and good multi-disciplinary care, have dramatically improved the life expectancy in children with Mucopolysaccharidosis (MPS) I, with better objective and functional outcomes. Despite these improvements, children with both the attenuated (non-Hurler) and severe (Hurler) variants of the disease have marked residual morbidity. Children with MPS I suffer with head and neck disease including obstructive sleep apnoea and hearing loss. The impact of these on quality of life has been poorly researched and no previous work has been published looking at patients' perception of their own health, an important domain when considering the impact of treatment.

Children with mild to moderate disease had significantly better quality of life scores than those with severe disease. It is thought that those with mild to moderate disease have short-term improvements in general quality of life after surgery, which disappear in the medium term. This transient improvement needs to be balanced against the morbidity of the surgery and the cost burden to the National Health Service. The results of this study support the national drive towards limiting tonsillectomy to children with severe tonsillitis or obstructive sleep apnoea.

Objectives:To assess the compliance of clinical commissioning groups (CCG) inEngland with the ENT-UK Rhinosinusitis commissioning guide produced in collaboration with the Royal College of Surgeons England and the National Institute of Clinical Excellence.We also aimed to assess the ease of accessibility of data from CCG's.Design:Audit of compliance of English CCG's with the ENT-UK rhinosinusitis commissioning guide. Setting: CCG's in EnglandParticipants: 58 of the 221 CCG's in England were included, chosen because they were the first CCG's authorised by NHS England or alternately, the CCG's forecast to have a deficit in their first year of operation.Their websites were reviewed; when information was not easily accessibly, a freedom of information request was submitted to the relevant CCG. Main outcome measures:Compliance with commissioning guidelines for rhinosinusitis. Results:13% of CCG's had restrictive referral criteria in place,largely unrelated to published evidence-based guidance. The routine use of multiple courses of oral steroids, prescription of antibiotics, CT scanningwithin primary care, and delaying referral for a year, prior to referral to a specialist were recommended against published advice. Conclusions:Restricting access to surgerymay contribute to poorer outcomes and a decrease in the patient's quality of life. This is against the NHS constitution and open to legal challenge. We encourage all ENT surgeons to review policies of their local CCG and engage with commissioners to ensure that their patients have evidence-based care.

BackgroundA core outcome set (COS) is an agreed standardised collection of outcomes that should be measured and reported by all trials for a specific clinical area, in this case chronic rhinosinusitis. These are not restrictive and researchers may continue to explore other outcomes alongside these that they feel are relevant to their intervention. The aim of this systematic review was to identify the need for a COS for chronic rhinosinusitis.MethodsA sensitive search strategy was used to identify all published Cochrane systematic reviews and randomised control trials of intervention for adult patients with chronic rhinosinusitis. Two independent authors reviewed these to obtain a list of outcomes and outcome measures reported by each clinical trial.ResultsSixty-nine randomised control trials and eight Cochrane systematic reviews were included in this study. They reported 68 individual outcomes and outcome measures, with an average of four to ten outcomes per clinical trial. These outcomes were mapped to 23 subcategories belonging to eight core categories.ConclusionsThe key finding of this review was the heterogeneity of outcomes reported and measured by clinical trials of patients with chronic rhinosinusitis, precluding meaningful meta-analysis of data. This review supports the need for development of a COS, to be used in future trials on adult patients with chronic rhinosinusitis.