Journal Article

8413 Provision of a multi-disciplinary clinic for patients with 22q11 deletion

Robinson, Elisabeth, Treharne, Linda, O’Sullivan Catherine, Linford Georgina, Dunning-Davies, Bryony, Preston, Lucinda, Bamford Jade, Hui, Chee Ying

2025

Overview

Why did you do this work?22q11.2 Deletion Syndrome is the most frequent chromosomal microdeletion syndrome and is the second most common cause of developmental delay and congenital heart disease.It has a wide range of phenotypic manifestations. For this reason, it has been established that multidisciplinary team (MDT) care is the best way to achieve optimal outcomes in 22q11 patients.We deliver a monthly 22q11 MDT clinic at Cambridge University Hospital (CUH). We wanted to evaluate the service provided, and areas of potential improvement.What did you do?We looked back at our CUH 22q11 MDT Clinic over a two-year period (September 2022 – September 2024) in order to better understand the needs of our patient cohort.We looked at the demographics of the patients seen, the level of input they required from the sub-specialities present at our clinic, and any input required from sub-specialities not currently represented in the clinic.In particular we looked at the distribution of problems identified in the clinic, if these were newly identified problems, and what support and management had already been put in place plus what needed to be introduced.We also looked for the gaps in services provided to aid with future planning and optimisation of the clinic.What did you find?22q11 patients can have cardiac, immune, endocrine, palatal, and gastrointestinal abnormalities. They can have developmental delay and learning difficulties. Throughout their childhoods they may require management from a number of sub-speciality teams, and which teams are most valuable for them will vary between different timepoints in their life.We identified the input, from the sub-specialities represented, needed over the two-year period evaluated. We looked at this in relation to what they needed at various ages and also what had to be provided by this tertiary service rather than by local secondary care providers. We also identified the potential areas for improvement in terms of both sub-specialities we ought to consider incorporating into our clinic, and how we can improve the care provided by the teams already a part of the clinic.What does it mean?To provide the highest quality care for this group of patients we want to continuously improve the service we deliver, we want to optimise their access to the sub-specialty input they need, and we want to avoid them receiving fragmented or incomplete care.We will use our evaluation of the current 22q11 MDT Clinic to inform expansion and improvement of the clinic, building on the foundation we have established.ReferencesJ Pediatr. 2011 Aug;159(2):332–9.e1.Anne S Bassett. Practical guidelines for managing patients with 22q11.2 deletion syndrome.

• Publisher: BMJ Publishing Group LTD
• Subject: Cardiovascular disease / Cardiovascular diseases / Chromosome deletion / Clinical outcomes / Congenital diseases / Demographics / Developmental Delays / Heart diseases / Learning Problems / Patients