Libro blanco de las ACES Pediátricas 2024

Errores Innatos del Metabolismo. Anexos ❚ 257 19 Assessment Grid This table suggests assessment tools which may be used to assess the Key Capabilities for these Learning Outcomes. This is not an exhaustive list and trainees are permitted to use other methods within the RCPCH Assessment Strategy to demonstrate achievement of the Learning Outcome, where they can demonstrate these are suitable. Key Capabilities Assessment / Supervised Learning Event suggestions Paediatric Mini Clinical Evaluation (ePaed Mini-CEX) Paediatric Case-based Discussion (ePaed CbD) Directly Observed Procedure / Assessment of Performance (DOP/AoP) Acute Care Assessment Tool (ACAT) Discussion of Correspondence (DOC) Clinical Leadership Assessment Skills (LEADER) Handover Assessment Tool (HAT) Paediatric Multi Source Feedback (ePaed MSF) Paediatric Carers for Children Feedback (Paed CCF) Other Advises senior colleagues on the investigation and management of a child and young person with the following conditions: • Hyperammonaemia in an acutely unwell child (see Illustration C1 for details). • Hypoglycaemia. • Cholestasis, liver failure or hepatomegaly/ hepatosplenomegaly. • Cardiomyopathy. • Dysmorphic features, corneal clouding/ cataracts and/or skeletal dysplasia. • Neurological regression and/or myopathy      Takes responsibility for the holistic investigation and management of a child and young person with the following conditions: • Branched-chain organic aciduria (see Illustration B1 for details) • Urea cycle disorder (see Illustration C2 for details) • Glycogen storage disorder (see Illustration D1 for details) • Galactosaemia, including dietary management and the early identification of need for educational support (see Illustration D2 for details) • Long-chain fatty acid oxidation disorder, including dietary management and the management of intercurrent illnesses (see Illustration E2 for details) • Lysosomal storage disorder (for which there is an approved treatment, see illustration F1 for details) • A mitochondrial disorder (see illustration H for details)     