Poster Presentations

Abstract

Objective: SCN9A Congenital Insensitivity to Pain (SCN-CIP) is a rare neurological condition that is challenging to manage, due to the potential accumulation of unrecognised / untreated injuries. The most dangerous period is early childhood, but with good multi-disciplinary management, children can lead very normal lives. We aimed to produce evidence-based, practical information for families, as well as professionals, on preventing disability through optimal management of this rare condition.Methods: An advanced search of the Medline database via PubMed was performed. This retrieved 142 hits, of which 35 were relevant and in English. 10 could not be retrieved. 15 were case reports, 7 original reports, and 3 review articles. By referring to citations, 3 additional relevant papers were identified and a total of 28 papers were analysed. In addition, the extensive clinical experience of Professor CG Woods-who runs a large research programme and clinic for SCN-CIP, contributed to our guidance. Results: Our results show that important areas for management are: self-inflicted injury, damage to bones and joints, injury to skin and injury to eyes. Prevention is paramount, and efficient ways to manage each of these areas were identified. Conclusions: Vigilance for, and prevention of, common problems in SCN-CIP is the most important aspect of management. Where injury occurs, prompt recognition and good management of complications is critical. For proper monitoring of individuals, we conclude that at a minimum a child should have a Lead Paediatrician, Lead Orthopaedic Surgeon, and a Lead Ophthalmologist. An expert in SCN-CIP to oversee care is ideal. We also conclude that parents require documentation of the diagnosis and contact details of the Lead Paediatrician that can be presented at A&E if required. We present a succinct, downloadable guide to optimal management for families and professionals. 002 13th January 2017 Duchenne muscular dystrophy audit

Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review

“…In one case report, no abnormalities were detected on brain MRI of a newborn despite a clinical diagnosis of moderate hypoxic ischemic encephalopathy (HIE) and undergoing therapeutic hypothermia. This infant was extubated and died at 11 days of age [ 12 ]. Two studies described a pattern of progressive atrophy and loss of white matter observed by MRI with prolonged survival in infants who remained on permanent ventilation [ 13, 14 ].…”

“…Given that the SMN protein is highly expressed during fetal development up until early infancy in various brain structures of the nervous system [ 26 ], it could be hypothesized these significant abnormalities may be related to the reduction of SMN protein observed during this critical time period. In contrast, Vincent & McSweeney found no brain pathology in an infant of SMA type 0 in the neonatal period [ 12 ]. Most of the reported structural changes were observed over time, and they may be secondary to non SMN pathways in a chronically ill child.…”