| Popis: |
Background 22q11 Deletion Syndrome is a complex, multi-system disorder with a prevalence of 1 in 2000 to 4000 people, making it the most common microdeletion described. Affected children may present with a diverse range of medical conditions and they are extremely vulnerable to a range of physical and intellectual disabilities as well as psychiatric illness throughout their lifespan. Consensus surveillance guidelines were developed, and last updated in 2017, in the U.K. to establish ‘a comprehensive and universally agreed lifelong care plan for people with 22q11DS’. Medical care for this population is frequently fragmented, and a need for a dedicated clinic in Ireland was identified by both medical professionals caring for these children and their families through 22q Ireland parent support group. Aims Our aim is to review the needs of children with 22qDS at the time of their first dedicated tertiary clinic review with reference to the consensus guidelines and establish if a dedicated clinic can identify and address unmet needs within this population. Methods The outcomes of all first clinic appointments since the establishment of the new clinic in October 2017 to January 2019 were reviewed. Previous specialty input along with referrals made and investigations requested were recorded. Results In the first 6 months of the 22q11DS Clinic 17 children were assessed. This attendance rate was 94% and 29% of this group had their appointment co-ordinated with another specialist on the same day. Overall, 46 children have been seen to date. Following their first assessment, in accordance to the guidelines and clinical need, overall 82% required surveillance investigations, including: blood testing (66% of children), renal ultrasound (30%) and X-Ray spine (9%). Specialist referrals were needed in 73% of children, to a variety of services, most commonly to mental health (48%), dental (20%), cardiology (18%), immunology (14%), cleft team (14%), ophthalmology (14%), audiology (9%), endocrine (7%) and orthopaedics (7%). Conclusion We have identified multiple areas of unmet need with reference to best practice guidance in this dedicated clinic. It is hoped that we can improve care co-ordination further by engaging other specialists to run clinics on the same day, appoint a nurse specialist and adopt a clear care pathway, tailored to the Irish healthcare system using a life course approach to ensure the regular monitoring and anticipation of issues and early intervention that helps in maintaining health, well-being and quality of life. |
