Browsing by Author "Wilmhurst, Jo"

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    Delineation of the genotype and phenotype of children presenting with dystrophies, excluding dystrophinophathies, in the Western Cape of South Africa. (2019-2020)
    (2021) Oshi, Mohammed Mohammed Ahmed; Wilmhurst, Jo
    Background Muscular dystrophies (MD) and myopathies are a distinct group of clinically and genetically heterogeneous inherited muscle diseases. They cause muscle weakness often with cardiac, pulmonary, and musculoskeletal dysfunction, leading to reduced longevity. MDs and myopathies present across all life stages. Delineation of this condition and specifically the subgroups with additional connective tissue involvement is poorly described in subSaharan African populations. Aim To delineate the phenotypic, and where possible genotypic expression, of muscular dystrophies and myopathies with connective tissue involvement in an African setting. Methods A retrospective cohort study was undertaken of children with muscular dystrophy / myopathy and connective tissue involvement who attend a dedicated neuromuscular service. Patient demographics, diagnosis and clinical profile was collated. Patients were allocated into two groups, congenial /infantile and childhood, based on age of onset. Muscle biopsy characteristics, biochemical findings, and where available, genetic analysis were captured. Based on the combined findings children were categorised into connective tissue variant groups i.e., Collagen 6 related myopathies, Rigid Spine Syndrome (SELENON phenotype), LMNA-related, ACTA1 related myopathies, MDC1A, and a subgroup who could not be categorised. Descriptive statistics and categorical variables were compared to evaluate primary study questions. Ethical approval was obtained by the University of Cape Town Human Research Ethics Committee (HREC:549/2019). Families gave informed consent prior to enrolment. Results A total of 57 children were reviewed, 50 of whom met the inclusion criteria of connective tissue spectrum in the setting of muscle disease (female to male ratio 1.3:1). There was a predominance in children from African ancestries, followed by those of European descent. 31/50 (62%) presented in the congenital-infantile age period, the remainder presented after 2 years of age. Children with congenital/infantile onset were more likely to lose independent ambulation compared to children with childhood onset (5/8, 62% vs 3/8 38%). Scoliosis complicated the course in 29/50 (58%) children, again affecting congenital/infantile onset children more when compared to the childhood onset group (19/29, 65%, vs 10/29,35%); (p=0.003), and spinal rigidity was more prevalent in the congenital/infantile onset compared to the childhood group, (8/11 (73%) vs 3/11 (27%)). The childhood group were statistically more at risk of suffering compromising respiratory muscle dysfunction (32/45, 71%, vs 13/45,29%) ;(p=0.04 ). Genetic diagnosis was available for 9 patients. Based on this and the combined phenotypes n=17 were considered part of the Collagen 6 group, n=7 Rigid Spine Syndrome and n=14 LMNA spectrum, n=3 under the ACTA1 mutation expression, n=2 LAMA2 and the remaining 7 could not be categorized or did not fall under one of the main groupings. Conclusion This study confirmed expression of this subgroup of muscular diseases with connective tissue involvement within the SSA population. The burden of disease from these conditions is across multiple systems and significant, requiring specialized care. Early recognition and referral to neuromuscular centre, would improve the potential outcomes for these children with collaborative multidisciplinary team. Serum creatine kinase (CK) levels and clinical markers such as rigid spine, dropped head, and skin laxity could be used in resource limited settings for probable and possible phenotype.
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    The utility of mobile telephone recorded videos as adjuncts to the diagnosis of seizures and paroxysmal events in children with suspected epileptic seizures
    (2021) Oyieke, Katherine; Wilmhurst, Jo
    Background: Epilepsy is largely a clinical diagnosis based on the patient's history. Neurological examination, interictal electroencephalogram and neuroimaging can all be normal in patients with epilepsy. Making the correct diagnosis in patients with suspected epilepsy is often difficult. Studies show that some 30% of patients are incorrectly diagnosed as suffering from epilepsy. Further, the diagnosis and treatment of epilepsy is often delayed. In the majority of patients, the diagnosis of epilepsy depends on the description of the attack by a witness but the inter-observer interpretations of verbal descriptions of events can be diverse and challenging. The use of mobile phone video recordings has gained worldwide prominence in recent years, including resource limited settings. This study explores the utility of mobile phone video recordings of paroxysmal events as adjuncts in the diagnosis of epilepsy, particularly in resource poor settings where there may exist significant diagnostic delays and misdiagnoses with far reaching implications on resource allocation and poor clinical outcomes. The aim of the study is to assess the accuracy of witness and referring clinician descriptions and to determine the impact, ideally enabling earlier diagnosis and management, of the use of home video recordings i.e the accuracy and timeliness of epilepsy diagnosis in paediatrics with the aim of improving practice in our setting. The existing literature is explored to guide optimal outcomes and ethical approaches to the tool which can be adapted for the paediatric setting. Objective: This study aims at outlining the utility of home videos in the diagnosis of paediatric epilepsy, and specifically describing how home videos influence the accuracy and timeliness of epilepsy diagnosis in clinical practice. Study design: This study has several arms, firstly a literature review to establish the current body of knowledge and established common practice for this intervention. The literature review critiques if there is an accepted and normed model for the use of this tool or existing evidence to support its use beyond anecdotal practice. Further, to define the apparent advantages and potential disadvantages of the intervention and to identify and develop subsequent study questions for a future prospective arm of the study. This will include questions relating to optimal recommended models for the intervention and safe ethical practice. To further assist with this consolidation of data a convenience sampling of videos randomly sent through to the neurology department over the previous year were retrospectively reviewed to assess the nature and route of the referral, the information included, the quality of the video, any ethical or safety concerns and any subsequent change in practice. Results: Eight studies met the inclusion criteria. Methodologies varied, only three included videos of children and quality of the videos was formally scored in two. Overall the studies supported that home videos of good quality had a role in assisting in the differentiation of epilepsy from non-epileptic events, this outcome increased in the setting that history was provided and with the level of experience of the clinician. Studies did not focus on the ethics or risks of home videos and for some of the studies only a small proportion of the epilepsy client load were able to provide video material. Outcome: Data relating to the role of home video of events in children is overall lacking. There are no official guidelines recommended to families for the acquisition of good quality videos in the management and assessment of seizures. Further, the ethical implications of transfer of sensitive recorded material has not been adequately addressed for this group.