With advances in genetic testing and improved access to such advances, whole exome sequencing is becoming a first-line investigation in clinical work-up of children with developmental delay/intellectual disability (ID). As a result, the need to understand the importance of genetic variants and its effect on the clinical phenotype is increasing. Here, we report on the largest cohort of patients with HNRNPU variants. These 21 patients follow on from the previous study published by Yates et al. in 2017 from our group predominantly identified

BackgroundSecreted protein, acidic, cysteine rich (SPARC)-related osteogenesis imperfecta (OI), also referred to as OI type XVII, was first described in 2015, since then there has been only one further report of this form of OI. SPARC is located on chromosome 5 between bands q31 and q33. The encoded protein is necessary for calcification of the collagen in bone, synthesis of extracellular matrix and the promotion of changes to cell shape.MethodsWe describe a further two patients with previously unreported homozygous SPARC variants with OI: one splice site; one nonsense pathogenic variant. We present detailed information on the clinical and radiological phenotype and correlate this with their genotype. There are only two previous reports by Mendozo-Londono et al and Hayat et al with clinical descriptions of patients with SPARC variants.ResultsFrom the data we have obtained, common clinical features in individuals with OI type XVII caused by SPARC variants include scoliosis (5/5), vertebral compression fractures (5/5), multiple long bone fractures (5/5) and delayed motor development (3/3). Interestingly, 2/4 patients also had abnormal brain MRI, including high subcortical white matter changes, abnormal fluid-attenuated inversion in the para-atrial white matter and a large spinal canal from T10 to L1. Of significance, both patients reported here presented with significant neuromuscular weakness prompting early workup.ConclusionCommon phenotypic expressions include delayed motor development with neuromuscular weakness, scoliosis and multiple fractures. The data presented here broaden the phenotypic spectrum establishing similar patterns of neuromuscular presentation with a presumed diagnosis of ‘myopathy’.

IntroductionCovert medication administration is an ongoing practice that occurs among some patient groups, including geriatric, psychiatric and paediatric populations. The Mental Capacity Act (MCA) 2005 is the current legislation which relates to the practice of covert medication administration and applies to people aged 16 and over.1Gillick competence applies to children under the age of 12 and is used to determine whether the child has capacity to give consent to their own medical treatment without parental intervention.2Medication non-adherence issues are common in children, and in some circumstances has resulted in the administration of medicine covertly. The practice of covert medication administration poses ethical, legal and clinical risks. These implications must be considered prior to administration. The research aim was to gain a better understanding on the knowledge and perception of MPharm students at Aston Pharmacy School on covert medication administration in children.MethodsPurposive sampling was used, where MPharm students at Aston Pharmacy School were selected to complete online surveys voluntary and anonymously. A total of 50 participants have completed the survey, where 14% were in stage one, 28% were in stage two, 32% were in stage three and 26% were in stage four of the study (2021–2022 academic year). The results obtained include both qualitative and quantitative data, which was imported into excel. Graphs and charts were used to illustrate the findings. The survey questions cover both legal and ethical perspectives of covert medication administration. This has enabled students’ opinions and attitudes towards this topic to be explored. The survey was approved by the Pharmacy Protocol and Ethics Research Board (PERB) and pilot testing were conducted before the survey was distributed to students.Results and DiscussionSimilarities between responses are seen between MPharm students across different stages of study. The majority of students have a good understanding on MCA 2005 and Gillick competence with regard to consent and capacity. Students appreciated the importance of the role of pharmacists in covert medication administration. Additionally, it was clearly demonstrated that students have a good understanding of the principle of best interests. Ethical perspectives on the practice of covert medication administration among most students are similar across the different stage of study. Depending on the circumstances, such as in a situation where the patient lacks mental capacity, most students believe that it is ethical to administer medicine covertly. In contrast to a situation where the patient has mental capacity, the majority of students believe that it is unethical for covert medication administration to be used. Furthermore, when applying the use of covert medication administration in children, majority of students believe that it is appropriate to act in the best interests of the child and for parents and carers to administer medicine covertly.ConclusionThis study has enabled the gap in knowledge to be identified, where there is a need for further research which explores the legal and ethical implications of the use of covert medication administration in children.ReferencesMental Capacity Act 2005, c. 9. Available at: https://www.legislation.gov.uk/ukpga/2005/9/section/1 [Accessed 2 March 2022]National Society for the Prevention of Cruelty to Children (2018). Gillick competency and Fraser guidelines [online]. Available at: https://www.icmec.org/wp-content/uploads/2019/04/gillick-competency-factsheet.pdf [Accessed 1 April 2022]