- Paediatrics (RCH) - Research Publications
Paediatrics (RCH) - Research Publications
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ItemNo Preview Available242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1-3 March 2019.Munot, P ; Robb, SA ; Niks, EH ; Palace, J ; ENMC workshop study group, (Elsevier BV, 2020-03)
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ItemNo Preview AvailablePlasma Phosphorylated Neurofilament Heavy Chain Levels Over Time in Participants With Infantile-and Later-onset SMA: Data from the SHINE StudyDarras, BT ; Sumner, CJ ; Muntoni, F ; Crawford, TO ; Finkel, RS ; Mercuri, E ; De Vivo, DC ; Oskoui, M ; Tizzano, EF ; Ryan, MM ; Liu, Y ; Petrillo, M ; Kandinov, B ; Wong, J ; Farwell, W (Lippincott Williams & Wilkins, 2020-04-14)
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ItemNo Preview AvailableLonger-term Experience with Nusinersen in Teenagers and Young Adults with Spinal Muscular Atrophy: Phosphorylated Neurofilament Heavy Chain (pNF-H) and Efficacy Results From the CS2-12/SHINE StudiesMuntoni, F ; Darras, BT ; Finkel, RS ; Ryan, MM ; Mercuri, E ; Tulinius, M ; Deconinck, N ; Ramirez-Schrempp, D ; Foster, R ; Liu, Y ; Petrillo, M ; Wong, J ; Kandinov, B ; Farwell, W (Wiley, 2020-05-01)
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ItemNo Preview AvailableInvolving families in the design of a weight management program for Duchenne muscular dystrophy - Supporting nutrition and optimising wellbeing programBillich, N ; Bray, P ; Truby, H ; Evans, M ; Sowerby, B ; de Valle, K ; Carroll, K ; Villano, D ; Ryan, M ; Davidson, Z (PERGAMON-ELSEVIER SCIENCE LTD, 2020-10)
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ItemPediatric Charcot-Marie-tooth disease clinical practice guidelineYiu, E ; Burns, J ; Bray, P ; Menezes, M ; Ryan, M (Wiley, 2020-12-01)
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ItemEnergy metabolism and mitochondrial defects in patient iPSC-derived motor neurons with the CMTX6-causative PDK3 mutationSiles, GP ; Cutrupi, A ; Uesugi, M ; Choi, B-O ; Ryan, M ; Kennerson, M (WILEY, 2020-12-01)
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ItemClinical course, therapeutic responses and outcomes in relapsing MOG antibody-associated demyelinationRamanathan, S ; Mohammad, S ; Tantsis, E ; Nguyen, TK ; Merheb, V ; Fung, VSC ; White, OB ; Broadley, S ; Lechner-Scott, J ; Vucic, S ; Henderson, APD ; Barnett, MH ; Reddel, SW ; Brilot, F ; Dale, RC (BMJ PUBLISHING GROUP, 2018-02)OBJECTIVE: We characterised the clinical course, treatment and outcomes in 59 patients with relapsing myelin oligodendrocyte glycoprotein (MOG) antibody-associated demyelination. METHODS: We evaluated clinical phenotypes, annualised relapse rates (ARR) prior and on immunotherapy and Expanded Disability Status Scale (EDSS), in 218 demyelinating episodes from 33 paediatric and 26 adult patients. RESULTS: The most common initial presentation in the cohort was optic neuritis (ON) in 54% (bilateral (BON) 32%, unilateral (UON) 22%), followed by acute disseminated encephalomyelitis (ADEM) (20%), which occurred exclusively in children. ON was the dominant phenotype (UON 35%, BON 19%) of all clinical episodes. 109/226 (48%) MRIs had no brain lesions. Patients were steroid responsive, but 70% of episodes treated with oral prednisone relapsed, particularly at doses <10 mg daily or within 2 months of cessation. Immunotherapy, including maintenance prednisone (P=0.0004), intravenous immunoglobulin, rituximab and mycophenolate, all reduced median ARRs on-treatment. Treatment failure rates were lower in patients on maintenance steroids (5%) compared with non-steroidal maintenance immunotherapy (38%) (P=0.016). 58% of patients experienced residual disability (average follow-up 61 months, visual loss in 24%). Patients with ON were less likely to have sustained disability defined by a final EDSS of ≥2 (OR 0.15, P=0.032), while those who had any myelitis were more likely to have sustained residual deficits (OR 3.56, P=0.077). CONCLUSION: Relapsing MOG antibody-associated demyelination is strongly associated with ON across all age groups and ADEM in children. Patients are highly responsive to steroids, but vulnerable to relapse on steroid reduction and cessation.