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Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype.KBG syndrome is characterised by developmental delay, dental (macrodontia of upper central incisors), craniofacial and skeletal anomalies. Since the identification of variants in the gene (ANKRD11) responsible for KBG syndrome, wider phenotypes are emerging. While there is phenotypic variability within many features of KBG syndrome, epilepsy is not usually markedly severe and movement disorders largely undocumented. Here we describe a novel early onset phenotype of dyskinetic epileptic encephalopathy in a male, who presented during infancy with a florid hyperkinetic movement disorder and developmental regression. Initially he had epileptic spasms and tonic seizures, and EEGs revealed a modified hypsarrhythmia. The epilepsy phenotype evolved to Lennox-Gastaut syndrome with seizures resistant to multiple anti-seizure therapies and the movement disorder evolved to choreoathetosis of limbs and head with oro-lingual dyskinesias. Previous extensive neurometabolic and imaging investigations, including panel-based exome sequencing were unremarkable. Later trio exome sequencing identified a de novo pathogenic heterozygous frameshift deletion of ANKRD11 (c.6792delC; p.Ala2265Profs*72). Review of the literature did not identify any individuals with such a hyperkinetic movement disorder presentation in combination with early-onset epileptic encephalopathy. This report expands the phenotype of ANKRD11-related KBG syndrome to include epileptic dyskinetic encephalopathy.
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Experiences and perceptions of multidisciplinary paediatric teams of blended tube feeding in children.Background: Blended tube feeding (BTF) is the administration of pureed whole foods via gastric feeding tubes. There is some evidence to suggest that BTF may have clinical and psychosocial benefits when compared to commercial formula, but further investigation of how BTF is understood and recommended by health professionals is needed. This study aims to investigate awareness and knowledge of BTF among multi-disciplinary paediatric staff in Ireland. Methods: A cross-sectional observational study was conducted among paediatric staff in Children's Health Ireland (CHI). The 16-item anonymous online survey gathered information on awareness of BTF, willingness to recommend BTF, confidence in BTF knowledge, and self-assessed competence in managing BTF. Results: Of the 207 responses, doctors (n68), nurses (n66), and dietitians (n32) provided 80.3% of responses. Two-thirds (n136, 66%) of the total group were aware of BTF. Of these, 68.1% had cared for a child on BTF and 70% (n = 63/90) were willing to recommend BTF. Three in five (n = 39/63, 61.9%) stated they were somewhat confident in their BTF knowledge and one in five (n = 12/56, 21.4%) were not yet competent in managing children on BTF. The most common reasons for recommending BTF were parental desire (n17, 39.5%) and commercial formula intolerance (n15, 34.9%). The most common barrier to recommending BTF was family logistics (n18, 41.9%). The most valuable sources of information on BTF for two-thirds (68.3%) of participants were other healthcare professionals (HCPs) and patients/caregivers. Conclusion: Healthcare settings should provide evidence-based training to HCPs on BTF to optimise the treatment and safety of children under their care.