Implementation of international guidelines for the treatment of epileptic spasms, is challenging when access to adrenocorticotrophic hormone (ACTH) and vigabatrin is restricted, especially in Low and Middle Income Countries (LMIC). Oral corticosteroids are alternative interventions but evidence for the optimal agent, dose, duration, efficacy and long-term effects are lacking. A systematic review of the literature was performed to assess the quality of evidence of prednisone and prednisolone (oral corticosteroids) for the management of epileptic spasms. There is level C recommendation based on class III evidence to support the efficacy of oral corticosteroids for the acute clinical control of epileptic spasms and EEG resolution. Efficacy of oral corticosteroids in comparison to the internationally recommended intervention of ACTH has class IV evidence supporting level U recommendation. Similarly, there is no data on the risk of relapse with oral corticosteroids (class IV, level U), compared to ACTH. There is class IV evidence supporting level U recommendation for the safety of oral corticosteroids and class II evidence for level B recommendation for ACTH. In terms of oral corticosteroids and effects on long-term development there is class IV evidence leading to level U recommendation, compared to class III evidence supporting level C recommendation for ACTH. Randomized controlled studies are needed to compare oral corticosteroids with ACTH, the optimal dosage and regimen as well as the long-term neurodevelopmental outcomes. Based on the limited existing studies a treatment guideline for LMIC is proposed which could be used to standardize interventions permitting clarification of these unmet questions.

Includes abstract. Includes bibliographical references.

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.

Includes bibliographical references (leaves 76-82). / The spectrum of central nervous system manifestations of DMD is less well described than its musculoskeletal aspects. Although international studies have reported intellectual function ranging from above-average to severe intellectual disability, they have consistently found the average full-scale IQ of affected boys to be reduced by approximately one standard deviation. Fewer reports are available for DMD boys in the pre-school age group. There is also limited data on the behavioural profile of boys with this condition. No material on these aspects of DMD in South African children has been published to date. This pilot case control study aimed to determine the neurocognitive and behavioural phenotype of a cohort of South African children with a confirmed diagnosis of Duchenne muscular dystrophy as compared to the profile of a matched control cohort of children.

Includes bibliographical references (leaves 63-70). / Tuberous sclerosis complex (TSC) is a genetically inherited condition that manifests with benign non-invasive tumours or hamartomas in multiple organ systems. The condition is of autosomal dominant inheritance with an estimated incidence of 1 in 6000 live births. Population based studies estimate the prevalence of TSC to be 1 per 14, 492 population. TSC has myriad presentations but 80 to 90% of these children have seizure disorders. The prevalence of learning disabilities in children with TSC ranges from 38% to 80%. Pervasive developmental disorders (PDD) and attention deficit hyperactivity disorder have been identified in half of the children with TSC. Cutaneous manifestations occur in more than 90% of TSC patients. Cortical tubers, cardiac rhabdomyomas and renal angiomyolipomas are other lesions associated with TSC in children. Currently TSC has no cure and associated complications manifest with advancing age. Parents are faced with the challenge of life long care for these children. Half of the parents of children with TSC suffer significant psychological stress. Child specific factors, health literacy, and social stability are some factors known to impact on parental understanding of a child's chronic illness. Data specific to parental understanding of TSC are limited. Methodology: A retrospective case note review was performed to obtain the patient demographic and clinical presentation data. A prospective observational study provided the parental background characteristics and information on their understanding of TSC. Results: A total of 31 patient case notes were included in the review. The median patient age at the time of data was 132 months (IQR 96.00). The male: female ratio was 4:1. Seizures were observed in 27 patients (87.1%). Infantile spasms were reported in 3 (9.6%) patients while partial seizures occurred in 11 (35.5%) patients. More than one anticonvulsant was required in 15 (48.4%) of the 27 patients with seizures. Fourteen (53.8%) had global developmental delay. Two children (6.4%) were both hyperactive and aggressive and six (19.3%) were considered hyperactive. Aggressive behaviour was observed in four (12.9%) other children. Parents of 21 patients gave consent to participate in the study. The median parental age was 38 years (IQR 10.5). Seven parents (33.3%) had attained a primary level of education. Secondary education was attained by ten parents (47.6%) and three (14.3%) had received tertiary education. A statistically significant difference, p value =0.001, was observed in the change in the level of knowledge on comparison between the parent group that received a leaflet and the one that did not. A parental level of education of grade 8 was associated with a significantly higher baseline knowledge score (p value = 0.045) and a significantly greater change in the level of knowledge score (p value = 0.003). No association was detected between a parent's duration of clinic attendance and the baseline level of knowledge (p value = 0.63) There was no association between a parents baseline level of knowledge and their assessment of the impact of TSC on their child. (p value = 0.61). Conclusions and recommendations: The clinical profile of the cohort of children seen at the Red Cross Children's Hospital is similar to that of other cohorts described in literature. Parental understanding of TSC can be improved by provision of written information for those with at least a grade eight level of education. The information leaflet used in this study can be used to educate parents of children with TSC.

Includes synopsis. / Incldues bibliographical references (p. 195-220). / Peripheral nerve disease was described by Galen (AD 130-200) over a thousand years ago.(3) Detailed anatomical illustrations were documented by Andreas Vesalius in his major work 'De humani corporis fabrica' in 1543.(4) Over the last two centuries an explosion in knowledge in the area has occurred, with a further exponential increase in the last 20 years mostly related to understandings in the field of molecular genetics.(5) Although some degree of diagnostic closure was possible for a number of the hereditary peripheral neuropathies, this has not been the end point of knowledge but only the beginning.

Rationale: The paucity of access to electroencephalograms (EEGs) in sub-Saharan Africa results in a high patient load attending the few centres with neurophysiology units. Sleep state for EEGs performed on children improves yield and reduces artefact. Melatonin induces “natural sleep” without the risk of airway compromise. This study evaluated the effectiveness of oral melatonin in attainment of useful electroencephalograms in South African children. Methods: Consecutive children booked for routine EEG who were either unable to cooperate or were referred for sleep EEG received oral melatonin (3mg < 15kg; 6mg > 15kg) (September 2013-March 2014). Comparison was made to a retrospective control group who received the previous sleep protocol agent, chloral hydrate. Outcome measures were the proportion of children who achieved sleep, useful EEG study data, sleep latency and duration, presence and level of artifacts and presence of recorded EEG study abnormalities. Results: 173 children were recruited, 88 (51%) male, median age 4 years 9 months (interquartile range of 2 years 2 months – 7 years 6 months). 87% of the children achieved stage 2 sleep and were deemed to have successfully entered sleep state. The median sleep latency was 44.5 minutes and the duration of sleep was 25 minutes (range 18.5 – 29 minutes). Children showed no signs of post-sedation irritability or persistent drowsiness. They were awoken and were immediately able to go home. In the melatonin group there were no adverse events, and no child needed their study deferred due to inter-current illnesses. All children administered melatonin cooperated and permitted a successful EEG recording with useful records even if sleep was not achieved. Sedation with melatonin was less successful (74% compared to 88%) in children with developmental and behavioural problems (χ 2 = 6.18, P= 0.046), they also had higher rate of artifacts (χ 2 = 5.83, P=0.05). 33.5% of the study group children (n=58) had abnormal EEG studies. These outcomes were comparable to a historical cohort of age equivalent children who were sedated with chloral hydrate (45.5%) (χ 2 = 1.22, P= 1.27). 79% that received melatonin compared with 86% of those that were sedated with chloral hydrate had artifacts (χ 2 = 0.63, P= 0.42) Conclusion: Melatonin is effective and safe in inducing sleep for EEG recording in our setting.

Introduction: Epilepsy is the most common neurological condition worldwide. Literature on the antiepileptic medications and biochemical markers of bone metabolism has revealed inconsistent results. Most of these studies were undertaken in Europe and America where the burden and the associated comorbidities are different to the ones in Africa. Methods: A hospital based case control study was undertaken at Red Cross War Memorial Children's Hospital where children were recruited from a dedicated Epilepsy clinic and controls were obtained from a day surgical ward. Blood and urine samples were taken for the assessment of markers of bone metabolism. Results: Seventy-five cases and 75 controls were recruited. The median age for the children with epilepsy was 9 years with a range of 1 to 17 and controls 3 years with a range of 1 to 12. Vitamin D deficiency was present in 11(16.2%) of children with epilepsy compared to 6(8.8%) in the control group. Vitamin D insufficiency was present in 30(44.1%) in children with epilepsy compared to 27(39.7%) in the control group. Children with epilepsy on enzyme inducing AEDs had lower mean Vitamin D levels (24.67±11.4 vs 30.72±7.4, p=0.08), lower mean Vitamin D2 (0.25±0.07 vs 0.4±0.17,p=0.0018),lower mean Vitamin D3 (1.61±1.06 vs 2.58±0.86,p=0.004), lower mean serum phosphate levels (1.39±0.2 vs 1.76±0.7,p=0.000) and a higher mean parathyroid hormone levels (4.47±2.33 vs 2.7±0.97, p=0.03) compared to the control group. Children with Epilepsy on enzyme inhibitors had higher mean Vitamin D2 (0.44±0.37 vs 0.25±0.07,p=0.000004) and mean Vitamin D3 (2.26±0.86 vs 1.61±1.06,p=0.028) compared to children on enzyme inducers. Dietary intake and ancestry did not influence Vitamin D levels between the cases and controls. Conclusion and Recommendations: Vitamin D deficiency is common in children with epilepsy on AEDs. Children on enzyme inducing AEDs should be investigated for vitamin D deficiency and managed accordingly.