Carolyn Ellaway

Publications (55) View all

• Article: Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI.

  D Sillence, K Waters, S Donaldson, P J Shaw, C Ellaway
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  ABSTRACT: Mucopolysaccharidosis type VI, Maroteaux-Lamy syndrome is a lysosomal storage disorder with progressive, multisystem involvement caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase leading to accumulation of the glycosaminoglycan, keratan sulfate. Enzyme replacement therapy (ERT) has been shown to clinically benefit affected individuals. A combined treatment regime of ERT and hemopoietic stem cell transplantation (HSCT) has led to reduced morbidity and mortality in patients with MPS I. We have demonstrated that a treatment regime of ERT combined with HSCT in a 3-year-old girl with MPS VI provided similar benefit. This treatment regimen should be considered in the management of selected patients with MPS VI. Neither HSCT nor ERT can correct or completely prevent progression of the musculoskeletal complications. Long-term follow-up and regular assessments for these complications is necessary.
  JIMD reports. 01/2012; 2:103-6.
• Article: Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency

  S. Balasubramaniam, C. Rudduck, B. Bennetts, G. Peters, B. Wilcken, C. Ellaway
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  ABSTRACT: OTC deficiency, a partially dominant X-linked trait, is the most frequent inborn error of the urea cycle. We describe a female patient with a contiguous gene deletion syndrome encompassing the OTC, DMD, RPGR, CYBB and XK genes, amongst others, only manifesting features of OTC deficiency. Molecular characterization was ascertained by MLPA and confirmed by CGH microarray, which revealed an 8.7 Mb deletion of the X-chromosome. Complete de novo deletion of the OTC gene led to a severe clinical phenotype in the proband. The application of high resolution molecular genetic techniques such as MLPA and array CGH, in mutation negative OTC cases allows the identification of chromosomal rearrangements, such as large deletions and provides information for accurate genetic counseling and prenatal diagnosis
  Molecular Genetics and Metabolism. 01/2010; 99:34-41.
• Article: Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency.

  S Balasubramaniam, C Rudduck, B Bennetts, G Peters, B Wilcken, C Ellaway
  [show abstract] [hide abstract]
  ABSTRACT: OTC deficiency, a partially dominant X-linked trait, is the most frequent inborn error of the urea cycle. We describe a female patient with a contiguous gene deletion syndrome encompassing the OTC, DMD, RPGR, CYBB and XK genes, amongst others, only manifesting features of OTC deficiency. Molecular characterization was ascertained by MLPA and confirmed by CGH microarray, which revealed an 8.7 Mb deletion of the X-chromosome. Complete de novo deletion of the OTC gene led to a severe clinical phenotype in the proband. The application of high resolution molecular genetic techniques such as MLPA and array CGH, in mutation negative OTC cases allows the identification of chromosomal rearrangements, such as large deletions and provides information for accurate genetic counseling and prenatal diagnosis.
  Molecular Genetics and Metabolism 08/2009; 99(1):34-41. · 3.19 Impact Factor
• Source

  Available from: Helen Leonard

  Article: Development of a video-based evaluation tool in Rett syndrome.

  S Fyfe, J Downs, O McIlroy, B Burford, J Lister, S Reilly, C L Laurvick, C Philippe, M Msall, W E Kaufmann, C Ellaway, H Leonard
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  ABSTRACT: This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). Components include a parent-report checklist, and video filming and coding protocols that contain items on eating, drinking, communication, hand function and movements, personal care and mobility. Ninety-seven of the 169 families who initially agreed to participate returned a videotape within 8 months of the first request. Subjects whose videos were returned had a similar age profile to those who did not provide a video but were more likely to have classical than atypical RTT. Evidence of the content and social validity and inter-rater reliability on 11 videos is provided. Video may provide detailed, objective assessment of function and behaviour in RTT.
  Journal of Autism and Developmental Disorders 11/2007; 37(9):1636-46. · 3.34 Impact Factor
• Article: Early progressive encephalopathy in boys and MECP2 mutations.

  P Kankirawatana, H Leonard, C Ellaway, J Scurlock, A Mansour, C M Makris, L S Dure, M Friez, J Lane, C Kiraly-Borri, V Fabian, M Davis, J Jackson, J Christodoulou, W E Kaufmann, D Ravine, A K Percy
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  ABSTRACT: MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy: seven of nine with affected sisters and two de novo. The authors report four de novo occurrences: three pathogenic and one potentially pathogenic. Common features include failure to thrive, respiratory insufficiency, microcephaly, and abnormal motor control. MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures.
  Neurology 08/2006; 67(1):164-6. · 8.31 Impact Factor