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Liverpool, United Kingdom

Livingston J.,Leeds General Infirmary | Doherty D.,University of Washington | Orcesi S.,Irccs C Mondino Institute Of Neurology Foundation | Tonduti D.,Irccs C Mondino Institute Of Neurology Foundation | And 8 more authors.
Neuropediatrics | Year: 2011

Introduction: Intracranial calcification (ICC) is a relatively common radiological finding in children undergoing investigation for neurological disorders. Many causes are recognised, and ICC is often regarded as a non-specific sign. Methods: From an ongoing study of ICC, we identified 5 patients with characteristic radiological features, in whom a mutation in the COL4A1 gene was found. Results: All patients had CT and MR imaging. MR images demonstrated features of periventricular leukomalacia with irregular dilatation of the lateral ventricles with or without porencephaly, loss of hemispheric white matter volume, and high signal on T2 and FLAIR sequences within periventricular and deep white matter. Calcification was apparent on MR in 4 patients. CT scans demonstrated spot and linear calcification in the subependymal region and around areas of porencephaly. Calcification was also visible in the deep cerebral white matter and basal ganglia. 1 patient showed calcification in the central pons. Conclusion: ICC occurs in COL4A1-related disease. The radiological features are distinct from other conditions demonstrating recognisable patterns of ICC, such as congenital cytomegalovirus infection and Aicardi-Goutires syndrome. In the absence of a known risk factor for periventricular leukomalacia, the presence of these radiological findings should suggest the possibility of COL4A1-related disease. © Georg Thieme Verlag KG Stuttgart - New York. Source

Riney C.J.,Neuroscience Unit | Riney C.J.,University College London | Chong W.K.,Great Ormond Street Hospital for Children NHS Trust | Clark C.A.,University College London | Cross J.H.,University College London
European Journal of Radiology | Year: 2012

Purpose: Magnetic resonance imaging (MRI), in particular fluid-attenuated inversion-recovery (FLAIR), has transformed the delineation of structural brain pathology associated with focal epilepsy. However, to date there is no literature on voxel based morphometry (VBM) of FLAIR in children with epilepsy. The aim of this study was to explore the role of visual and VBM assessment of FLAIR in pre-operative investigation of children with intractable focal epilepsy. Methods: Children with intractable epilepsy due to focal cortical dysplasia (FCD) and children with intractable cryptogenic focal epilepsy (CFE) were investigated. FLAIR and T1-weighted MRI were acquired on a 1.5T MRI scanner (Siemens, Erlangen, Germany). VBM was performed using SPM5 (Wellcome Institute of Cognitive Neuroscience, London). Results: Eight children with FCD (M = 5, age 7.9-17.3 years) and 14 children with CFE (M = 8, 7.8-16.8 years) were enrolled. VBM of FLAIR detected 7/8 (88%) of FCD whilst VBM of T1-weighted MRI detected only 3/8 (38%) FCD. VBM of FLAIR detected abnormality in 4/14 children with CFE, in 2/14 (14%) the abnormality was concordant with other data on the epileptogenic zone and with visible abnormality on repeat visual inspection of MR data. VBM of T1-weighed MRI detected abnormality in 2/14 children with CFE, none of which correlated with visible abnormality. Discussion: This study highlights the important role that FLAIR imaging has in the pre-operative assessment of children with intractable epilepsy. VBM of FLAIR may provide important information allowing selection of children with intractable CFE who are likely to benefit from further neuroradiological or neurophysiological evaluation. © 2011 Elsevier Ireland Ltd. All rights reserved. Source

Olopade J.O.,Neuroscience Unit | Fatola I.O.,University of Ibadan | Olopade F.E.,University of Ibadan
Nigerian Journal of Physiological Sciences | Year: 2011

The work investigated the protective role of vitamin E on vanadium induced neurotoxicity. Three adult female rats were divided into three groups, A-C with each dam and her pups forming a group. Group A served as control. The dam in Group B was given 3mg/kg b.w./day of vanadium from PND 1 while the Group C dam were given 3mg/kg b.w./day of vanadium, for 14 days and 500mg/kg b.w. of vitamin E 72 hourly in the same time frame. The results showed that pups from Group B, exhibited behavioural deficits in most tests, a significant reduction in body weight gain and absolute brain weight; in addition immunohistochemistry showed reactive astrogliosis induced by vanadium exposure. All these findings were however attenuated in pups whose dam was exposed to vanadium and vitamin E depicting the significant protective effects of this antioxidant against vanadium. This study is novel in that both vanadium and vitamin E were introduced through the lactation route. We conclude that though caution remains essential in the posology of vitamin E, the management of lactating mothers who have been exposed to vanadium occupationally, environmentally or therapeutically with supplementation of this antioxidant may be beneficial at least in the short term to both mother and offspring. © Physiological Society of Nigeria. Source

Parr J.R.,Royal Infirmary | Jolleff N.,Neuroscience Unit | Gray L.,Royal Infirmary | Gibbs J.,Countess of Chester Hospital NHS Foundation Trust | And 2 more authors.
Child: Care, Health and Development | Year: 2013

Objectives: To identify how services provided by child development teams (CDTs) have changed over 20 years. To what extent have major government initiatives aiming to improve the lives of children with disability and their families been implemented by teams? Design: Survey sent to every UK CDT in 2009/2010; comparison with data gathered in 1988 and 1999. Results: Ninety-four per cent (225/240) of CDTs responded; data on 242 teams were available from 1999 and 125 teams from 1988. Despite policy recommendations advocating the value of interdisciplinary team working, there was a decline in numbers of professionals working within the CDT multidisciplinary team. One-third of all teams reported a reduction in their funding over the last 5 years. However, specialist clinics provided increased. Teams reported patchy adoption of national initiatives designed to improve provision. Transition services were underdeveloped. Conclusions: This comprehensive survey of UK CDT service provision, as well as national studies of the healthcare experience of families with a disabled child, shows that improvements in provision are required. © 2013 John Wiley & Sons Ltd. Source

Fong C.Y.,Neuroscience Unit | Fong C.Y.,University of Malaya | Riney C.J.,Neuroscience Unit
Journal of Child Neurology | Year: 2014

This study evaluated prevalence and risk factors for vitamin D deficiency among children with epilepsy on long-term antiepileptic drugs treated in South Queensland, Australia. Children with epilepsy seen in a tertiary neurology clinic were contacted requesting bone health blood tests during winter of 2011. Vitamin D deficiency was defined as 25-hydroxy vitamin D levels <20 ng/mL, and insufficiency between 21 and 29 ng/mL. One hundred thirty letters were sent, with 111 (85%) subsequently having blood tests performed. Vitamin D deficiency was identified in 24 (22%) of 111 and an additional 45 (41%) of 111 had vitamin D insufficiency. Multiple logistic regression analysis identified children on >2 antiepileptic drugs or with underlying genetic etiologies were more likely to have vitamin D deficiency. High proportion of children on long-term antiepileptic drugs in Queensland risk vitamin D deficiency and insufficiency despite living in the subtropics. Vitamin D monitoring and supplementation is important in the management of children on long-term antiepileptic drugs requiring tertiary care in Queensland. © The Author(s) 2013. Source

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