Aims For many years a multiprofessional 22q11 clinic has been running in this hospital which has offered a single appointment after diagnosis. The aim of this study was to assess the ongoing, unmet health needs of this diverse group of patients, by comparing current clinical practice to published recommendations.1
Methods From a genetic database, individuals with 22q11 deletion were identified. Their electronic hospital records were examined. All recorded encounters with health care professionals were reviewed. For each patient all medical specialities involved in their care and all diagnoses were recorded.
Results From the genetic database 143 patients were identified. 55 of these were aged over 18 and so excluded from the study. From the remaining 88 patients aged under 18, 43 had no active hospital record and were excluded, leaving 45 patients in the study.
17 patients (37%) had a cardiology diagnosis. 26 patients (57%) had palate dysfunction and were reviewed by the SALT/plastics multiprofessional team. 4 patients (8%) were seen by respiratory or immunology. 5 patients (11%) had an endocrinological diagnosis. 7 patients (15%) had been seen for renal/urological tract abnormalities. 5 patients (11%) were seen by gastroenterology. 23 patients (51%) had learning difficulties or speech delay. For 14 patients (31%), there was evidence of multiprofessional care, involving local and tertiary teams.
For 43 patients, aged under 18, who were excluded from this study, it is uncertainif they have had any follow-up following their diagnosis.
Conclusion The 22q11 deletion patient group has a diverse phenotype and these patients have a wide range of ongoing needs. The SALT/Plastic team have a well-established multidisciplinary approach in our region; combining orthodontic, ENT, plastic, SALT and clinical psychologist input at regular clinical reviews. However, even this team do not meet all of the publsihed guideline recommendations. The care received by the significant proportion of patients who did not see this team is even more variable and less standardised. This study provides evidence, to support the decision in our region, to establish a single multidisciplinary paediatric clinic for patients with 22q11 to improve and standardise their ongoing care.
Practical guidelines for managing patients with 22q11.2deletion syndrome. Bassett AS, J Pediatr. 2011 Aug;159(2)332-9.e1. doi:10.1016/j.jpeds.2011.02.039 Epub 2011 May12
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