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All Outputs (28)

Whole-body MRI for cancer surveillance in ataxia–telangiectasia: A qualitative study of the perspectives of people affected by A-T and their families (2023)
Journal Article
Neves, R., Perez, B. D. D., Tindall, T., Fernandez, N. S., Panek, R., Wilne, S., …Glazebrook, C. (in press). Whole-body MRI for cancer surveillance in ataxia–telangiectasia: A qualitative study of the perspectives of people affected by A-T and their families. Health Expectations, Article hex.13756. https://doi.org/10.1111/hex.13756

Background/Objectives Ataxia–telangiectasia (A-T) is a complex inherited disease associated with an increased risk of malignancy. Surveillance guidelines have demonstrated significant health benefits in other cancer predisposition syndromes. However... Read More about Whole-body MRI for cancer surveillance in ataxia–telangiectasia: A qualitative study of the perspectives of people affected by A-T and their families.

The natural history of ataxia-telangiectasia (A-T): A systematic review (2022)
Journal Article
Petley, E., Yule, A., Alexander, S., Ojha, S., & Whitehouse, W. P. (2022). The natural history of ataxia-telangiectasia (A-T): A systematic review. PLoS ONE, 17(3), Article e0264177. https://doi.org/10.1371/journal.pone.0264177

Background: Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of... Read More about The natural history of ataxia-telangiectasia (A-T): A systematic review.

What is new in migraine management in children and young people? (2022)
Journal Article
Loh, N. R., Whitehouse, W. P., & Howells, R. (2022). What is new in migraine management in children and young people?. Archives of Disease in Childhood, 107(12), 1067-1072. https://doi.org/10.1136/archdischild-2021-322373

For this narrative review, we found recent publications on the use and effectiveness of old therapies including nutraceuticals, such as riboflavin, vitamin D, magnesium, melatonin and talking therapies.Recent large trials of established conventional... Read More about What is new in migraine management in children and young people?.

Accumulation of Brain Hypointense Foci on Susceptibility-Weighted Imaging in Childhood Ataxia Telangiectasia (2021)
Journal Article
Dineen, R. A., Blanchard, C. C., Pszczolkowski, S., Paine, S., Prasad, M., Chow, G., …Auer, D. P. (2021). Accumulation of Brain Hypointense Foci on Susceptibility-Weighted Imaging in Childhood Ataxia Telangiectasia. American Journal of Neuroradiology, 42(6), 1144-1150. https://doi.org/10.3174/ajnr.a7107

Background and Purpose Susceptibility-weighted imaging (SWI) hypointense cerebral lesions have been reported in adults with the inherited cerebellar neurodegenerative disorder ataxia telangiectasia (A-T). This study aims to establish the prevalence... Read More about Accumulation of Brain Hypointense Foci on Susceptibility-Weighted Imaging in Childhood Ataxia Telangiectasia.

Outcomes for children with acquired brain injury (ABI) admitted to acute neurorehabilitation (2021)
Journal Article
Keetley, R., Bennett, E., Williams, J., Stewart, I., Whitehouse, W., Pilling, P., & Manning, J. (2021). Outcomes for children with acquired brain injury (ABI) admitted to acute neurorehabilitation. Developmental Medicine and Child Neurology, 63(7), 824-830. https://doi.org/10.1111/dmcn.14846

Aim: To evaluate an innovative paediatric neurorehabilitation model in relation to improving quality of neurorehabilitation and reducing length of stay (LOS). Method: Process evaluation approach was conducted in line with Medical Research Council... Read More about Outcomes for children with acquired brain injury (ABI) admitted to acute neurorehabilitation.

Outcomes for children with acquired brain injury (ABI) admitted to acute neurorehabilitation (2021)
Journal Article
Keetley, R., Bennett, E., Williams, J., Stewart, I., Whitehouse, W. P., Pilling, P., & Manning, J. C. (2021). Outcomes for children with acquired brain injury (ABI) admitted to acute neurorehabilitation. Developmental Medicine and Child Neurology, https://doi.org/10.1111/dmcn.14846

Aim: To evaluate an innovative paediatric neurorehabilitation model in relation to improving quality of neurorehabilitation and reducing length of stay (LOS) for children with acquired brain injury. Method: A process evaluation approach was cond... Read More about Outcomes for children with acquired brain injury (ABI) admitted to acute neurorehabilitation.

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures (2020)
Journal Article
Tang, S., Addis, L., Smith, A., Topp, S. D., Pendziwiat, M., Mei, D., …Pal, D. K. (2020). Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures. Epilepsia, 61(5), 995-1007. https://doi.org/10.1111/epi.16508

Objective: We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE). Methods: We deeply phenotyped MAE patients for epile... Read More about Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia (2019)
Journal Article
Dineen, R. A., Raschke, F., McGlashan, H. L., Pszczolkowski, S., Hack, L., Cooper, A. D., …Auer, D. P. (2020). Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia. NeuroImage: Clinical, 25, Article 102110. https://doi.org/10.1016/j.nicl.2019.102110

Background Ataxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be i... Read More about Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia.

Investigating ataxia in childhood (2019)
Journal Article
Petley, E., Prasad, M., Ojha, S., & Whitehouse, W. P. (2019). Investigating ataxia in childhood. Archives of Disease in Childhood.education and Practice Edition, https://doi.org/10.1136/archdischild-2018-315893

© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. Ataxia is a common presentation to an acute paediatric unit and it can often be difficult to determine the cause. It is important to distingu... Read More about Investigating ataxia in childhood.

Reduced Myelin Signal in Normal-appearing White Matter in Neuromyelitis Optica Measured by 7T Magnetic Resonance Imaging (2019)
Journal Article
Chou, I., Tanasescu, R., Mougin, O. E., Gowland, P. A., Tench, C. R., Whitehouse, W. P., …Constantinescu, C. S. (2019). Reduced Myelin Signal in Normal-appearing White Matter in Neuromyelitis Optica Measured by 7T Magnetic Resonance Imaging. Scientific Reports, 9, Article 14378. https://doi.org/10.1038/s41598-019-50928-0

Whether the integrity of normal-appearing white matter (NAWM) is preserved in neuromyelitis optica spectrum disorders (NMOSD) is open to debate. To examine whether the tissue integrity of NAWM in NMOSD is compromised compared to that in healthy contr... Read More about Reduced Myelin Signal in Normal-appearing White Matter in Neuromyelitis Optica Measured by 7T Magnetic Resonance Imaging.

Genotype, extrapyramidal features and severity of variant Ataxia‐Telangiectasia (2018)
Journal Article
Schon, K., Os, N., Oscroft, N., Baxendale, H., Scoffings, D., Ray, J., …Hensiek, A. E. (2018). Genotype, extrapyramidal features and severity of variant Ataxia‐Telangiectasia. Annals of Neurology, 85(2), 170-180. https://doi.org/10.1002/ana.25394

Objective: Variant Ataxia‐Telangiectasia is caused by mutations that allow some retained ATM kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant Ataxia‐Telangiectasia and explore geno... Read More about Genotype, extrapyramidal features and severity of variant Ataxia‐Telangiectasia.

Early discharge and rehabilitation in paediatric acquired brain and neurological injury: a transferable model (2018)
Journal Article
Keetley, R., Kelly, L., Whitehouse, W. P., Thomas, S., Bennett, E., Chow, G., …Williams, J. (2018). Early discharge and rehabilitation in paediatric acquired brain and neurological injury: a transferable model. Archives of Disease in Childhood.education and Practice Edition, https://doi.org/10.1136/archdischild-2018-315096

Children and young people who require rehabilitation following sustaining an acquired brain injury often experience long lengths of stay (LOS) and potentially poorer recovery outcomes due to limited access to therapy and little proactive discharge pl... Read More about Early discharge and rehabilitation in paediatric acquired brain and neurological injury: a transferable model.

Epilepsy and associated mortality in patients with multiple sclerosis (2018)
Journal Article
Chou, I. J., Kuo, C. F., Tanasescu, R., Tench, C. R., Tiley, C. G., Constantinescu, C. S., & Whitehouse, W. P. (2018). Epilepsy and associated mortality in patients with multiple sclerosis. European Journal of Neurology, 26(2), 342-e23. https://doi.org/10.1111/ene.13821

Background and purpose: We aimed to determine the prevalence of epilepsy in patients with multiple sclerosis (MS) at diagnosis, the risk of developing epilepsy after the diagnosis of MS and the relative risk of mortality associated with epilepsy. Me... Read More about Epilepsy and associated mortality in patients with multiple sclerosis.

Relapse after treatment withdrawal of antiepileptic drugs for juvenile absence epilepsy and juvenile myoclonic epilepsy (2018)
Journal Article
Healy, L., Moran, M., Singhal, S., O'Donoghue, M. F., Alzoubidi, R., & Whitehouse, W. P. (2018). Relapse after treatment withdrawal of antiepileptic drugs for juvenile absence epilepsy and juvenile myoclonic epilepsy. Seizure - European Journal of Epilepsy, 59, https://doi.org/10.1016/j.seizure.2018.05.015

Purpose Conventional teaching is that juvenile myoclonic epilepsy (JME) and juvenile absence epilepsy (JAE) require lifelong antiepileptic drug (AED) treatment. We therefore wanted to determine how many patients attending our epilepsy service with J... Read More about Relapse after treatment withdrawal of antiepileptic drugs for juvenile absence epilepsy and juvenile myoclonic epilepsy.

Evaluation of an internet-based animated preparatory video for children undergoing non-sedated MRI (2018)
Journal Article
McGlashan, H. L., Dineen, R. A., Szeszak, S., Whitehouse, W. P., Chow, G., Love, A., …Wharrad, H. (2018). Evaluation of an internet-based animated preparatory video for children undergoing non-sedated MRI. British Journal of Radiology, 91(1087), Article 20170719. https://doi.org/10.1259/bjr.20170719

Objectives: We evaluate the value of an internet-based educational animated video designed to prepare children for MRI scans, and whether this video reduces scan-related anxiety in children with a neurological disorder, and healthy controls. Meth... Read More about Evaluation of an internet-based animated preparatory video for children undergoing non-sedated MRI.

Seizure characteristics and the use of anti-epileptic drugs in children and young people with brain tumours and epileptic seizures: Analysis of regional paediatric cancer service population. (2018)
Journal Article
Pilotto, C., Liu, J., Walker, D. A., & Whitehouse, W. P. (2018). Seizure characteristics and the use of anti-epileptic drugs in children and young people with brain tumours and epileptic seizures: Analysis of regional paediatric cancer service population. Seizure - European Journal of Epilepsy, 58, 17-21. https://doi.org/10.1016/j.seizure.2018.03.016

Safety of antiepileptic drugs in children and young people: a prospective cohort study (2018)
Journal Article
Egunsola, O., Choonara, I., Sammons, H. M., & Whitehouse, W. P. (2018). Safety of antiepileptic drugs in children and young people: a prospective cohort study. Seizure - European Journal of Epilepsy, 56, https://doi.org/10.1016/j.seizure.2018.01.018

Purpose: This study aims to describe the incidence of adverse drug reactions (ADRs) in children receiving antiepileptic drugs (AEDs) and compare ADRs to the individual drugs when given as monotherapy. Method: Paediatric patients (?18 years old) we... Read More about Safety of antiepileptic drugs in children and young people: a prospective cohort study.

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy (2017)
Journal Article
McTague, A., Nair, U., Malhotra, S., Meyer, E., Trump, N., Gazina, E. V., …Kurian, M. A. (2018). Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. Neurology, 90(1), Article e1-e12. https://doi.org/10.1212/WNL.0000000000004762

Objective: To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy. Methods: We identified a cohort of 31 patients with epilepsy of infancy with migrating... Read More about Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.

Seven-Tesla magnetization transfer imaging to detect multiple sclerosis white matter lesions (2017)
Journal Article
Chou, I., Lim, S., Tanasescu, R., Al-Radaideh, A., Mougin, O. E., Tench, C. R., …Constantinescu, C. S. (in press). Seven-Tesla magnetization transfer imaging to detect multiple sclerosis white matter lesions. Journal of Neuroimaging, https://doi.org/10.1111/jon.12474

BACKGROUND AND PURPOSE: Fluid-attenuated inversion recovery (FLAIR) imaging at 3 Tesla (T) field strength is the most sensitive modality for detecting white matter lesions in multiple sclerosis. While 7T FLAIR is effective in detecting cortical lesio... Read More about Seven-Tesla magnetization transfer imaging to detect multiple sclerosis white matter lesions.

Protocol for a prospective observational study of adverse drug reactions of antiepileptic drugs in children in the UK (2017)
Journal Article
Egunsola, O., Sammons, H. M., Ojha, S., Whitehouse, W. P., Anderson, M., Hawcutt, D., & Choonara, I. (2017). Protocol for a prospective observational study of adverse drug reactions of antiepileptic drugs in children in the UK. BMJ Paediatrics Open, 1(1), Article 000116. https://doi.org/10.1136/bmjpo-2017-000116

Background Epilepsy is a common chronic disease of children that can be treated with anti-epileptic drugs (AEDs). AEDs, however, have significant side effects. Newer AEDs are thought to have fewer side effects. There have, however, been few comparati... Read More about Protocol for a prospective observational study of adverse drug reactions of antiepileptic drugs in children in the UK.