Current APSU Studies

Acute flaccid paralysis (AFP)

ORIGINAL ARTICLES

Iwansenko JM, Scott GM, Rawlinson WD, Keogh A, Mitchell D, Chou S.
Successful valganciclovir infection in the presence of UL97 mutation N597D.
Journal of Medical Virology 2009; 81(3):507-510. 

Stewardson AJ, Roberts JA, Beckett CL, Prime HT, Loh PS, Thorley BR, Daffy JR.
Imported Case of Poliomyelitis, Melbourne, Australia, 2007. 
Emerging Infectious Diseases  www.cdc.gov/eid. Vol.15, No.1, January 2009.

Pearn J.
Poliomyelitis - Acute flaccid paralysis and stool virology.
Journal of Paediatrics and Child Health 2007; 43(9): 649. (Letter)*

Durrheim DN, Massey P, Kelly H.
Re-emerging poliomyelitis - is Australia's surveillance adequate?
Communicable Diseases Intelligence 2006; 30: 275-276

Kelly HA, Brussen KA, Lawrence A, Elliott EJ, Pearn J, Thorley B.
Polioviruses and other enteroviruses isolated from faecal samples of patients with acute flaccid paralysis in Australia, 1996-2004.
Journal of Paediatrics and Child Health 2006; 42: 370-376

Kelly H.
Evidence for a causal association between oral polio vaccine and transverse myelitis: A case history and review of the literature.
Journal of Paediatrics and Child Health 2006; 42: 155-159

Thorley BR, Brussen KA, Elliott EJ, Kelly HA.
Vigilance is required for  Australia to remain polio free.
Medical J ournal of Australia 2006; 184: 474-475

Morris A, Elliott EJ, D'Souza RM, Antony J, Kennett M, Longbottom H.
Acute flaccid paralysis in Australian children.
Journal of Paediatrics and Child Health 2003; 39(1): 22-26

D'Souza RM, Kennett M, Watson C.
Australia declared polio free.
Communicable Diseases Intelligence 2002; 26(2): 253-260

Kelly HA, Brussen KA.
Apparent improvement in AFP surveillance in Australia.
Australian and New Zealand Journal of Public Health 2002; 26: 281-282

Whitfield Ken B, Kelly HA.
Estimating the incidence of acute flaccid paralysis in Victoria, Australia using the two source capture-recapture method.
Bulletin of the World Health Organisation 2002; 80: 846-851

Kelly HA, Brussen KA, Morris A, Elliott EJ.
Acute flaccid paralysis surveillance in Australia.
Bulletin of the World Health Organisation 2001; 79(12): 1169-1170

D'Souza RM, Elliott EJ.
Polio eradication.
Communicable Diseases Intelligence 1999; 23(3): 76

D'Souza RM, Watson C, Kennett M.
Australia's contribution to Global Polio Eradication Initiatives.
Australian and New Zealand Journal of Public Health 1999; 23(3): 289-294

Kennett M, Brussen KA, Wood DJ, van der Avoort HG, Ras A, Kelly HA.
Australia's last reported case of wild poliovirus infection.
Communicable Diseases Intelligence 1999; 23: 77-79


PUBLISHED REPORTS

Roberts JA, Grant KA, Ibrahim A, Thorley BR.
Annual report of the Australian National Poliovirus Reference Laboratory 2007.
Communicable Diseases Intelligence 2008; 32(3): 308-15

Roberts J, Brussen KA, Ibrahim A, Thorley B.
Annual report of the Australian National Poliovirus Reference Laboratory, 2006.
Communicable Diseases Intelligence 2007; 31(3): 263-269

Brussen KA, Roberts J, Ibrahim A, Stambos V, Thorley B.
Annual report of the Australian National Poliovirus Reference Laboratory 2005
Communicable Disease Intelligence 2006; 334-340

Stambos V, Brussen KA, Thorley BR.
Annual report of the Australian national Poliovirus Reference Laboratory, 2004.
Communicable Disease Intelligence 2005; 29(3): 263-8

Thorley BR, Brussen KA, Stambos V, Kelly HA.
Annual report of the Australian National Poliovirus Reference Laboratory, 2002.
Communicable Disease Intelligence  2003; 27(3): 352-356

Thorley BR, Brussen KA, Stambos V, Yuen LK, Kelly HA.
Annual report of the Australian National Poliovirus Reference Laboratory and summary of acute flaccid paralysis surveillance, 2001.
Communicable Diseases Surveillance 2002; 26: 419-427 

D'Souza RM, Kennett M, Antony J, Longbottom H, Elliott EJ.
Acute Flaccid Paralysis surveillance in Australia Progress Report 1995-1998.
Poliomyelitis Eradication in Australia. Commonwealth Government of Australia 2000

Department of Health and Aged Care.
"Surveillance for poliomyelitis in Australia: Acute flaccid paralysis surveillance."
Poliomyelitis eradication in Australia: National documentation for certification. [5], 16-24 2000.
Canberra, Commonwealth of Australia.

Department of Health and Aged Care.
"Poliomyelitis eradication in Australia: A report on the issues."
Strategic Planning Workshop. Department of Health and Aged care, editor. 2000, 16-24. 2000.
Canberra, Commonwealth of Australia 

Kennett M, Brussen KA, Stambos V, Turnbull A, Ibrahim A, Kelly HA.
Report of the Australian National Polio Reference Laboratory, 1 January to 31 December 1998.
Communicable Diseases Intelligence 1999; 23(5): 124-127

D'Souza RM, Kennett M, Antony J, Longbottom H, Elliott EJ.
Acute flaccid paralysis surveillance in Australia progress report 1995-1998.
Communicable Diseases Intelligence 1999; 23(5): 124-127


PUBLISHED ABSTRACTS

Kennett M.
"Proficiency testing in the region."
Second Meeting on Laboratory Surveillance and Eighth meeting of the Technical Advisory Group (TAG) on Expanded programme on Immunisation and Poliomyelitis Eradication in the Western Pacific region, World Health Organisation, Manila, June 1997.

Morris AMS, Elliott EJ, D'Souza RM, Antony J, Kennett M, Longbottom H et al.
Acute flaccid paralysis in Australian children.
Journal of Paediatrics and Child Health 37[6], A4-5. 2001

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Acute Rheumatic Fever (ARF)

ORIGINAL ARTICLES

Smith M, Lester-Smith D, Zurysnki Y, Noonan S, Carapetis J, Elliott E.
Persistence of acute rheumatic fever in tertiary hospitals.
Journal of Paediatrics and Child Health 2010: doi: 10.1111/j.1440-1754.2010.01935.x. [Epub ahead of print]


PUBLISHED ABSTRACTS

Carapetis JR, Noonan S, Elliott E, Zurynski Y, Currie B, McDonald M, Wheaton G, Nissen M, Ramsay J, Isaacs D, Richmond P, Curtis N, Heazlewood R.
"National Surveillance for Acute Rheumatic Fever in Australian Children."
National Heart Foundation of Australia Conference, Brisbane, May 2009.

Noonan S, Carapetis J, Elliott E, Zurynski Y, Currie B, Curtis N, Wheaton G, Isaacs D, Ramsay J, Richmond P.
National Surveillance for Acute Rheumatic Fever in Australian Children through the Australian Paediatric National Surveillance Unit.
Royal Australasian College of Physicians Congress, Darwin, May 2011.


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Congenital cytomegalovirus (CMV) infection

ORIGINAL ARTICLES

Dasari V, Smith C, Zhong J, Scott G, Rawlinson W, Khanna R.
Recombinant glycoprotein B vaccine formulation with Toll-like receptor 9 agonist and immune-stimulating complex induces specific immunity against multiple strains of cytomegalovirus.
Journal of General Virology. 2011; 92(5):1021-31.

Iwasenko J, Howard J, Arbuckle S, Graf N, Hall B, Craig ME, Rawlinson WD.
Human cytomegalovirus infection is detected frequently in stillbirths and is associated with fetal thrombotic vasculopathy.
Journal of Infectious Diseases. 2011; 203(11): 1526-1533.

McMullan B, Palasanthiran P, et al.
Congenital cytomegalovirus — time to diagnosis, management and clinical sequelae in Australia: opportunities for earlier identification.
Medical Journal Australia 2011; 194(12): 625-629. 

Post J, Chan M, Rawilinson W, et al.
Positive Epstein–Barr virus and cytomegalovirus IgM assays in primary HIV infection.
Journal of medical virology 2011; 83(8): 1406-1409.

Iwansenko JM, Scott GM, Rawlinson WD, Keogh A, Mitchell D, Chou S.
Successful valganciclovir infection in the presence of UL97 mutation N597D.
Journal of Medical Virology 2009; 81(3):507-510.

Rawlinson WD, Stern J, Munro SC, Waliuzzaman Z, Scott GM.
Genotyping of congenital human CMV isolates based on four glycoprotein genes.
Microbiology Australia 2002; 23(4): Proferred papers 36

Daley AJ, Gilbert GL,
Instructive case Cytomegalovirus infection in pregnancy.
Journal of Paediatrics and Child Health 2001; 37: 589-591

Trincado DE, Rawlinson WD.
Congenital and perinatal infections with cytomegalovirus.
Journal of Paediatric Child Health 2001; 37: 187-192

Trincado DE, Scott GM, White PA, Hunt C, Ramussen L, Rawlinson WD.
Human cytomegalovirus (HCMV) strains associated with congenital and perinatal infections.
Journal of Medical Virology 2000; 61: 481-487


 PUBLISHED ABSTRACTS

Rawlinson W, McMullan B, Howard J, Robertson P, Palasanthiran P.
Congenital CMV infection: APSU data and follow-up of a cohort of affected infants.
Journal of Paediatrics and Child Health 2008; 44(9): A15.

Chow SSW, Scott GM, Hall B, Lahra MM, Rawlinson WD, Craig ME.
"Amniotic fluid study of congenital infections (ASCI)."
Proceedings of Perinatal Society of Australia and New Zealand 9th Annual Congress, Adelaide, SA 2005: P-26

Jacques CFH, Munro SC, Chow SSW, Ford CE, Craig M, Camaris C, Gordon A, Lahra MM, Jones C, Jeffrey HE, Rawlinson WD.
"Viral infections in stillbirths, pre-term births and highrisk individuals."
Perinatal Society of Australia and New Zealand 9th Annual Congress, Adelaide, SA, 2005. Poster Absract No. P75

Rawlinson WD, Jacques C, Chow S, Koelsch M, Ramachandran V, Brennan L.
"Vertically transmitted viral infections and consequences for the fetus."
Australian Institute of Medical Scientists, 2005 National Scientific Meeting, Sydney

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Congenital Rubella

ORIGINAL ARTICLES

Forrest JM, Burgess MA, Donovan T.
A resurgence of congenital rubella in Australia?
Communicable Diseases Intelligence 2003; 27(4): 533-535

Gidding H, Young M, Pugh R, Burgess MA.
Rubella in Australia: can we explain two recent cases of congenital rubella syndrome ?
Communicable Diseases Intelligence 2003; 27(4): 537-539

Coulter C, Wood R, Robson J.
Rubella infection in pregnancy.
Communicable Diseases Intelligence 1999; 23(8): 209-214

Sullivan EA, Burgess MA, Forrest JM.
The epidemiology of rubella and congenital rubella in Australia, 1992-1997.
Communicable Diseases Intelligence 1999; 23(8): 209-214 

Stambos V, Leydon J, Riddell M, Clothier H, Catton M, Featherstone D, Kelly H.
Evaluation of the World Health Organization Global Measles and Rubella Quality Assurance Program, 2001–2008.
Journal of Infectious Diseases 2011; 204 (suppl 1): S499-S505.

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Congenital Varicella

ORIGINAL ARTICLES

Khandaker G, Marshall H, Peadon E, Zurynski Y, Burgner D, Buttery J, Nissen M, Elliott E, Burgess M, Booy R.
Congenital and neonatal varicella: impact of the national varicella vaccination program in Australia. 2011
Archives of Disease in Childhood 2011; DOI: 10.1136/adc.2010.206037.

Peadon E, Burgner D, Nissen M et al.
Case for varicella surveillance in Australia.
Journal of Paediatrics and Child Health 2006; 42: 663-664


PUBLISHED ABSTRACTS

Peadon E, Burgner D, Buttery J, Elliott E, Gold M, Nissen M, Zurynski Y, Booy R.
Congenital, neonatal and severe varicella in Australia following the introduction of national immunisation.
Journal of Paediatrics and Child Health 2008; 44(9): A19.

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HIV/AIDS and Perinatal Exposure to HIV

ORIGINAL ARTICLES

Giles ML, McDonald AM, Elliott EJ, Ziegler JB, Hellard ME, Lewin SR, Kaldor JM.
Variable uptake of recommended interventions to reduce mother-to-child transmission of HIV in Australia, 1982-2005.
Medical Journal of Australia 2008; 189(3): 151-154.

Giles ML, McDonald AM, Elliott EJ, Ziegler JB, Hellard ME, Lewin SR, Kaldor JM.
Variable uptake of recommended interventions to reduce mother-to-child transmission of HIV in Australia, 1982-2005. In Reply.
Medical Journal of Australia, 2008; 190(4). (letter).

Doherty R.
Preventing transmission of HIV from mothers to babies in Australia.
Medical Journal of Australia 2001; 174: 433-434.

McDonald AM, Li Y, Cruickshank M, Elliott EJ, Kaldor J, Ziegler JB.
Use of interventions for reducing mother-to-child transmission of HIV in Australia.
Medical Journal of Australia 2001; 174: 449-452.

McDonald AM, Zurynski YA, Wand HC, Giles ML, Elliott EJ, Ziegler JB, Kaldor JM.
Perinatal exposure to HIV among children born in Australia, 1982-2006.
Medical Journal of Australia 2009; 190(8):416-420.


PUBLISHED REPORTS

National Centre in HIV Epidemiology and Clinical Research.
HIV/AIDS, viral hepatitis and sexually transmissible infections in Australia Annual Surveillance Report 2005.
National Centre in HIV Epidemiology and Clinical Research, The University of New South Wales, Sydney, NSW; Australian Institute of Health and Welfare, Canberra, ACT 2005

Henderson-Smart D.(Ed)
"Centre for Perinatal Health Services Research"
Annual Report 2004

McDonald AM (Ed).
HIV/AIDS, Viral Hepatitis and Sexually Transmissible Infections in Australia Annual Surveillance Report 2003.
National Centre in HIV Epidemiology and Clinical Research. ISSN 1442-8784

McDonald AM (Ed).
HIV/AIDS, Viral Hepatitis and Sexually Transmissible Infections in Australia Annual Surveillance Report 2002.
National Centre of HIV Epidemiology and Clinical Research, University of NSW,Sydney. ISSN 1442-8784. 2002:1-55

McDonald AM (Ed).
Australian HIV Observational Database.
The National Centre in HIV Epidemiology and Clinical Research, Darlington NSW, ISSN 1443-3907. Vol 3. 2002:1-57 

National Centre of HIV Epidemiology and Clinical Research (Eds).
HIV/AIDS, Hepatitis C and Sexually Transmissible Infections in Australia. Annual Surveillance Report 2001.
National Centre in HIV Epidemiology and Clinical Research, The University of New South Wales, Sydney 2001 

National Centre of HIV Epidemiology and Clinical Research (Eds).
HIV/AIDS, Hepatitis C and Sexually Transmissible Infections in Australia. Annual Surveillance report 2000.
National Centre in HIV Epidemiology and Clinical Reserach, The University of New South Wales, Sydney 2000

National Centre of HIV Epidemiology and Clinical Research (Eds).
HIV/AIDS, Hepatitis C and sexually transmissible infections in Australia. Annual Surveillance Report 1999.
National Centre in HIV Epidemiology and Clinical Research, The University of New South Wales, Sydney 1999


PUBLISHED ABSTRACTS

McDonald A, Zurynski Y, Nadew K, Elliott E, Kaldor J and Ziegler J.
Prevention of mother-to-child HIV Transmission in Australia 1982-2005.
RACP Congress Melbourne, May 2007. Journal of Paediatrics and Child Health 43(7-8), A1 - A22 

McDonald AM, Li Y, Cruickshank M, Elliott EJ, Ziegler JB, Kaldor J et al.
Use of interventions for reducing mother-to-child HIV transmission in Australia.
Journal of Paediatrics and Child Health. 2001; 37[6]: A4.


PRESENTATIONS

McDonald A, Zurynski Y, Nadew K, Elliott E, Kaldor J and Ziegler J.
"Perinatal exposure to HIV - What have we learned from 12 yrs of surveillance."
RACP Congress Melbourne, May 2007.

McDonald A.
"Perinatal exposure to HIV in Australia, 1995-2004. 5th Update on HIV and Hepatitis C Infection in Children."
Sydney Children's Hospital, Randwick, Sydney, September 2005

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Intussusception

ORIGINAL ARTICLE

Buttery JP, Danchin MH, Lee KJ, Carlin JB, McIntyre PB, Elliott EJ, Booy R, Bines JE, for the PAEDS/APSU Study Group.
Intussusception following rotavirus vaccine administration: Post-marketing surveillance in the National Immunization Program in Australia.
Vaccine 2011; 29:3061-3066.

Ryan M, Fields J, Sola J, Neville H.
Portal venous gas and cardiopulmonary arrest during pneumatic reduction of an ileocolic intussusception.
Journal of Pediatric Surgery. 2011, 46(4):e5-e8.


PUBLISHED EXTRACTS

Lloyd-Johnson C, Danchin M, Zurynski Y, Elliott E, Richomnd P, Krause V, Beggs S, Nissen M, Gold M, Bines J.
Preliminary national data pn acute Intussusception in Children aged <= 24 months from the Australian Paediatric Surveillance Unit (APSU).
Journal of Paediatrics and Child Health 2008; 44(9): A7.

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Neonatal Herpes Simplex Virus Infection (HSV)

ORIGINAL ARTICLES

"Garland S, Jones C. 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 2000; 36(3), A15.


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."
5th Western Pacific International Congress of Infectious Diseases 2005; Sydney, July 2005 (oral plenary session). 132(SY09): 40

Jones CA.
"HSV in the newborn."
XXIInd Cornea and Eye Bank Meeting, Sydney Eye Hospital, February 2005

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Neonatal Varicella

ORIGINAL ARTICLES

Khandaker G, Marshall H, Peadon E, Zurynski Y, Burgner D, Buttery J, Nissen M, Elliott E, Burgess M, Booy R.
Congenital and neonatal varicella: impact of the national varicella vaccination program in Australia.
2011 Archives of Disease in Childhood 2011; DOI: 10.1136/adc.2010.206037.

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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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

Fehr S, Bebbington A, Ellaway C, Rowe P, Leonard H, Downs J.
Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome.
Journal of Child Neurology 2011; 26(8): 980-987.

Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, De Klerk N, Leonard H.
Trends in the Diagnosis of Rett Syndrome in Australia.
Pediatric Research 2011; 70(3): 313-319.

Hendrie, D., A. Bebbington, et al.
Measuring use and cost of health sector and related care in population of girls and young women with Rett syndrome
Research in Autism Spectrum Disorders 2011; 5(2): 901-909.

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

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 Subdural Haematoma

ORIGINAL ARTICLES

Beslow L, Smith S, Vossough A, Licht D, Kasner S, Favilla C, Halperin A, Gordon D, Jones C, Cucchiara A, Ichord R.
Hemorrhagic transformation of childhood arterial ischemic stroke.
Stroke 2011. 42(4):941-6. 

PUBLISHED ABSTRACTS

Almandoz J, Kelly H, Brouwers H, Yoo A, Stone M, Schaefer P, Goldstein J, Rosand J, Lev M, Gonzalez R, Romero J.
Frequency and predictive value of the CT angiography spot sign in secondary ICH
Stroke 2010; 41(4): e310-e311

Kelly H, Almandoz J, Passanese J, Lev M, Schaefer P, Gonzalez  R, Romero J.
The CT angiography spot sign predicts hematoma expansion and in-hospital mortality in traumatic subdural hemorrhage
Stroke , 2010;  41(4): e311-e312

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Systemic Lupus Erythematosus

ORIGINAL ARTICLES

Zhao J, Wu H, Khosravi M, Cui H, Ziegler J, et al.
Association of genetic variants in complement factor h and factor h-related genes with systemic lupus erythematosus susceptibility
PLoS Genetics. 2011; 7(5):e1002079


PRESENTATIONS

Mackie F, Kainer G, Rosenberg A, Munro J, Murray K, Wainstein B, Ziegler J, Singh D, Boros C, Adib N, Fahy R, Elliott E.
High Rates of SLE (systemic lupus erythematosus) in indigenous children in Australia – An interim report of the Australian Paediatric Surveillance Unity (APSU) 2009-2010
Royal Australasian College of Physicians Congress, Darwin, May 2011.

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Varicella complications requiring hospitalisation

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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