Current APSU Studies (L - Z)
neonatal herpes simplex virus infection (hsv)
original articles
Garland S, Jones CA, Herpes simplex virus in pregnancy. Australia and New Zealand Journal of Obstetrics and Gynaecology 2001(3): 108-114
published abstracts
Jones CA, McIntyre P, Isaacs D, Members of the Neonatal HSV study team. Epidemiology of neonatal herpes simplex virus infection in Australia: preliminary report on the Australian Paediatric Surveillance Unit study (1997-1999). Journal of Paediatrics and Child Health 36(3), A15. 2000
presentations
Jones CJ. Emerging Infectious Diseases - Hepatitis C Virus (HCV) and Herpes Simplex Virus (HSV) Infections in Australian Children. RACP Congress Melbourne, May 2007.
Jones CA. Congenital and Perinatal Herpes Simplex Virus Infection. Australian Society for Microbiology, Annual Scientific Meeting, Canberra, September 2005 (oral plenary session)
Jones CA. Transmission of herpes simplex virus in pregnancy. Abstracts of the Australian Institute of Microbiological Sciences. Sydney, July 2005 (oral plenary session). 5th Western Pacific International Congress of Infectious Diseases 2005; 132(SY09): 40
Jones CA. HSV in the newborn. XXIInd Cornea and Eye Bank Meeting, Sydney Eye Hospital, February 2005
neonatal varicella
original articles
Peadon E, Burgner D, Nissen M et al. Case for varicella surveillance in Australia. Journal of Paediatrics and Child Health 2006; 42: 663-664
neuromuscular disorders
published abstracts
Villano DJ, Kornberg AJ, Lamont P, North KN, Rowe P, Sinclair K, Ryan MM. APSU study of neuromuscular disorders in childhood. Journal of Paediatrics and Child Health 2008; 44(9): A18.
rett syndrome
original articles
Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Kerk N, Kaufmann WE, Leonard H. The diagnosis of autism in a female: could it be Rett syndrome? European Journal of Pediatrics 2008; 167(60: 661-669.
Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, et al. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. Journal of Medical Genetics 2007; 44(2):148-152.
Fyfe S, Downs J, McIlroy O, Burford B, Lister J, Reilly S, Laurvick CL, Philippe C, Msall M, Kaufmann WE, Ellaway C, Leonard H. Development of a video-based evaluation tool in Rett syndrome. Journal of Autism and Develpment Disorders 2007:37(9);1636-46
Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. European Journal of Human Genetics 2007:15(12);1218-29.
Oddy WH, Webb KG, Baikie G, Thompson SM, Reilly S, Fyfe SD, Young D, Anderson AM, Leonard H. Feeding experiences and growth status in a Rett syndrome population. Journal of Pediatric Gastroenteroloy and Nutrition 2007:45(5);582-90.
Ager S, Fyfe S, Christodoulou J, Jacoby P, Schmit I, Leonard H. Predictors of scoliosis in Rett syndrome Journal of Child Neurology 2006 Sep; 21(9): 809-813
Archer HL, Ravine D, Miller M et al. Netrin G and NMDA receptor dysfunction in Rett syndrome. American Journal of Medical Genetics - Part A. 2006; 691-694
Jian L, Nagarajan L, de Klerk N et al. Predictors of seizure onset in Rett syndrome. Journal of Paediatrics 2006; 149: 542
Kankirawatana P, Leonard H, Ellaway C et al. Early progressive encaphalopathy in boys and MECP2 mutations. Neurology 2006; 67: 164-166
Laurvick C, Msall M, Silburn S, Bower C, de Klerk N, Leonard H. Physical and mental health in mothers caring for a child with Rett syndrome. Paediatrics 2006 Oct; 118(4):e1152-64
Laurvick CL, de Klerk N, Bower C et al. Rett syndrome in Australia: a review of the epidemiology. Journal of Paediatrics 2006; 148: 347-352
Leonard H, de Klerk N, Bourke J, Bower C. Maternal health in pregnancy and intellectual disability in the offspring: a population-based study. Annals of Epidemiology 2006; 16: 448-454
Robertson L, Hall SE, Jacoby P, Ellaway C, de Klerk N, Leonard H. The association between behaviour and genotype in Rett syndrome using the Australian Rett Syndrome Database. Journal of Medical Genetics 2006; 141: 177-183
Saxena A, de Lagarde D, Leonard H et al. Lost in translation: translation interference from a recurrent mutation in exon 1 of MECP2. Journal of Medical Genetics 2006; 43: 470-477
Colvin L, Fyfe S, Leonard H, Schiavello T, Ellaway CJ, de Klerk N et al. Describing the phenotype in Rett syndrome using a population database. Archives of Disease in Childhood 2003; 88: 38-43
Cream A, Leonard H, de Klerk N, Fyfe S, Moore H, Leonard N. InterRett - first steps in an international collaboration. Journal of Child Neurology 2003 Oct; 18(10): 703-8
Fyfe S, Cream A, de Klerk N, Christodoulou J, Leonard H. InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome. Journal of Child Neurology 2003; 18(10): 709-713
Gill H, Cheadle JP, Maynard J, Fleming N, Whatley S, Cranston T, Thompson EM, Leonard H, Christodoulou J, Davis M. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of Medical Genetics 2003; 40(5): 380-384
Leonard H, Colvin L, Christodoulou J, Schiavello T, Weaving L, Williamson S et al. Patients with the R133C mutation, is their phenotype different from Rett syndrome patients with other mutations ? Journal of Medical Genetics 2003; 40(5): 52
Leonard H, Slack-Smith L, Phillips T, Richardson S, D'Orsogna L, Leonard S. How can the internet help parents of children with rare neurological disorders ? Journal of Child Neurology 2003 Oct; 18(10): 703-8
Moore H, Leonard H, de Klerk N, Robertson I, Fyfe S, Christodoulou J et al. Health service utilisation in Rett syndrome Journal of Child Neurology 2003; 20(1): 42-50,2005
Umansky R, Watson JS, Colvin L, Fyfe S, Leonard S, de Klerk N et al. Hand preference, extent of laterality and functional hand use in Rett syndrome. Journal of Child Neurology 2003; 18(7): 481-487
Weaving LS, Williamson SL, Bennetts B Davis M, Ellaway CJ, Leonard H. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. American Journal of Medical Genetics 2003; 118A(2): 103-114
Ellaway CJ, Badawi N, Raffaele L, Christodoulou J, Leonard H. A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. Clinical Dysmorphology 2001; 10(3): 185-188
Leonard H, Silberstein J, Falk R, Houwink-Manville I, Ellaway CJ, Raffaele L et al. Occurrence of Rett syndrome in boys. Journal of Child Neurology 2001; 16(5): 333-338
Leonard H, Fyfe S, Dye D, Hockey A, Christodoulou J. Family data in Rett syndrome: association with other genetic disorders. Journal of Paediatrics and Child Health 2000; 36: 336-339
Leonard H, Fyfe S, Dye D, Leonard S. Using genetic epidemiology to study Rett syndrome: the design of a case-control study. Paediatric and Perinatal Epidemiology 2000; 14: 85-95
Ellaway CJ, Williams K, Leonard H, Christodoulou J. Rett syndrome: randomised controlled trial of L-carnitine. Journal of Child Neurology 1999; 14: 162-167
Ellaway CJ, Sholler G, Leonard H, Christodoulou J. Prolonged QT interval in Rett syndrome. Archives of Disease in Childhood 1999; 80: 470-472
Fyfe S, Leonard H, Dye D, Leonard S. Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome. Journal of Child Neurology 1999; 14(7): 440-445
Leonard H, Thomson M, Glasson E, Fyfe S, Leonard S, Bower C et al. A population based approach to the investigation of osteopenia in Rett syndrome. Developmental Medicine and Child Neurology 1999; 41(5): 323-328
Leonard H, Thomson M, Glasson E, Fyfe S, Leonard S, Ellaway CJ et al. Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis. American Journal of Medical Genetics 1999; 83: 88-95
Leonard H, Fyfe S, Dye D, Leonard S. Familial aggregation in Rett syndrome: what is the evidence for clustering of other disorders in the families of affected girls ? American Journal of Medical Genetics 1999; 82: 228-234
published reports
Leonard H, Bower C, Thompson E, Christodoulou J, Nagarajan L. The Australian Rett Syndrome Study Inaugural Report. August 2002
published abstracts
Leonard H, Smith A, Phillip T, Richardson S. How is the internet helping parents of children with rare disorders. Journal of Paediatrics and Child Health 2003; 39(suppl), A11
presentations
Leonard H. Rett Syndrome: From Surveillance to Genotype - Phenotype correlation. RACP Congress, Melbourne May 2007
varicella complications requiring hospitalization
original articles
Peadon E, Burgner D, Nissen M et al. Case for varicella surveillance in Australia. Journal of Paediatrics and Child Health 2006; 42: 663-664
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