Professor Helen Leonard

Professor Helen Leonard

MBChB MPH
Head, Child Disability Research
Phone: +61419956946
Email: helen.leonard@telethonkids.org.au

Areas of research expertise: Child disability; Intellectual disability; autism spectrum disorders; Down syndrome; Rett syndrome; pre-term birth; population studies.


Dr Helen Leonard joined the Institute in 1996 and is currently a NHMRC Senior Research Fellow leading a team of researchers in the area of childhood disability. Complementing her clinical background she has also become a leading authority in the epidemiology of intellectual disability and specific associated syndromes, in particular Rett Syndrome. 

Dr Leonard has established a population-based intellectual disability database in Western Australia, which is internationally unique and, with its linkage to other WA population-based databases, is providing extremely valuable ongoing research output. She is also a principal investigator and member of an exciting and innovative international autism registry collaboration which provides the infrastructure to undertake pooled analyses of data from a number of countries without the data leaving its home base.

Dr Leonard has co-authored 126 publications in peer-reviewed journals, as well as thirteen book chapters and five reports and her work is highly cited.  She is currently a senior editor of a book on the clinical aspects of Rett syndrome. Since 2000 she has held 22 competitive grants and attracted funds to the Institute of $25 million (over $3.0 million as principal grant-holder).

 

 

Publications:

 

Downs J, Leonard H, Hill K. Initial assessment of the StepWatch Activity Monitor to measure walking activity in Rett syndrome. Disability and Rehabilitation 2011.

Knott M, Leonard H, Downs J. The diagnostic odyssey to Rett syndrome: The experience of an Australian family. American Journal of Medical Genetics A 2011.

Lim F, Downs J, Li J, Bao XH, Leonard H. Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families. American Journal of Medical Genetics A 2011.

Zhang J, Bao X, Cao G, Jiang S, Zhu X, Lu H, Jia L, Pan H, Fehr S, Davis M and others. What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome? Clinical Genetics 2011.

Slack-Smith L, Read A, Colvin L, Leonard H, Kilpatrick N, McAullay D, Messer L. Total population investigation of dental hospitalizations in Indigenous children under five years in Western Australia using linked data. Australian Dental Journal 2011;56(4):358-364.

Slack-Smith L, Colvin L, Leonard H, Kilpatrick N, Messer LB. Population level investigation of hospital dental admissions for children under 5 years with intellectual disability. Journal of Epidemiology and Community Health 2011;65:A371-A371.

Young D, Bebbington A, de Klerk N, Bower C, Nagarajan L, Leonard H. The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population. Research in Autism Spectrum Disorders 2011;5(1):442-449.

Urbanowicz A, Downs J, Bebbington A, Jacoby P, Girdler S, Leonard H. Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome. Research in Autism Spectrum Disorders 2011;5(2):722-732.


Thomas K, Bourke J, Girdler S, Bebbington A, Jacoby P, Leonard H. Variation over time in medical conditions and health service utilisation of children with Down syndrome. The Journal of Pediatrics 2011;158(2):194-200.

Parner ET, Thorsen P, Dixon G, de Klerk N, Leonard H, Nassar N, Bourke J, Bower C, Glasson EJ. A Comparison of Autism Prevalence Trends in Denmark and Western Australia. Journal of Autism and Developmental Disorders 2011.

Oates A, Bebbington A, Bourke J, Girdler S, Leonard H. Leisure participation for school-aged children with Down syndrome. Disability and Rehabilitation 2011;33(19-20):1880-9.

Leonard H, Glasson E, Nassar N, Whitehouse A, Bebbington A, Bourke J, Jacoby P, Dixon G, Malacova E, Bower C and others. Autism and intellectual disability are differentially related to sociodemographic background at birth. PLoS One 2011;6(3):e17875.

Jefferson AL, Woodhead HJ, Fyfe S, Briody J, Bebbington A, Strauss BJ, Jacoby P, Leonard H. Bone mineral content and density in Rett syndrome and their contributing factors. Pediatric Research 2011;69(4):293-298.

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

Geelhoed EA, Bebbington A, Bower C, Deshpande A, Leonard H. Direct Health Care Costs of Children and Adolescents with Down Syndrome. The Journal of Pediatrics 2011.

Foley KR, Downs J, Bebbington A, Jacoby P, Girdler S, Kaufmann WE, Leonard H. Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period. Journal of Child Neurology 2011.

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):313-9.

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):980-7.

Dye DE, Brameld KJ, Maxwell S, Goldblatt J, Bower C, Leonard H, Bourke J, Glasson EJ, O'Leary P. The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: a population-based study. Public Health Genomics 2011;14(3):153-61.

 

Downs J, Bebbington A, Kaufmann WE, Leonard H. Longitudinal hand function in Rett syndrome. Journal of Child Neurology 2011;26(3):334-40.

Wilkins A, Leonard H, Jacoby P, MacKinnon E, Clohessy P, Forouhgi S, Slack-Smith L. Evaluation of the processes of family-centred care for young children with intellectual disability in Western Australia. Child: Care, Health and Development 2010;36(5):709-718.

Thomas K, Girdler S, Bourke J, Deshpande A, Bathgate K, Fehr S, Leonard H. Overview of Health Issues in School-aged Children with Down Syndrome. In: Urbano RC, editor. International Review of Research in Mental Retardation. Volume Volume 39. Academic Press; 2010. p 67-106.

Tay G, Graham H, Graham HK, Leonard H, Reddihough D, Baikie G. Hip displacement and scoliosis in Rett syndrome - screening is required. Developmental Medicine and Child Neurology 2010;52(1):93-98.

O'Donnell M, Nassar N, Leonard HM, Mathews RP, Patterson YG, Stanley FJ. The use of cross-jurisdictional population data to investigate health indicators of child maltreatment. The Medical Journal of Australia 2010;193(3):142-145.

O'Donnell M, Nassar N, Leonard H, Mathews R, Patterson Y, Stanley F. Monitoring child abuse and neglect at a population level: Patterns of hospital admissions for maltreatment and assault. Child: Care, Health and Development 2010;34(11):823-32.

O'Donnell M, Nassar N, Leonard H, Jacoby P, Mathews R, Patterson Y, Stanley FJ. Rates and types of hospitalisations of children with subsequent contact with the Child Protection System: A population based case-control study. Journal of Epidemiology and Community Health 2010;Epub Sept 2009.

O'Donnell M, Nassar N, Leonard H, Jacoby P, Mathews R, Patterson Y, Stanley F. Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatment: a population-based study. International Journal of Epidemiology 2010;39(3):921-928.

Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, S. BME, Schanen CN, Zappella M and others. Rett Syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology 2010;68(6):944-950.

Leonard H, Downs J, Jian L, Bebbington A, Jacoby P, Nagarajan L, Ravine D, Woodhead H. Valproate and risk of fracture in Rett syndrome. Archives of Disease in Childhood 2010;95(6):444-448.

Leonard H, Dixon G, Whitehouse AJO, Bourke J, Aiberti K, Nassar N, Bower C, Glasson EJ. Unpacking the complex nature of the autism epidemic. Research in Autism Spectrum Disorders 2010;4(4):548-554.

Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Al Raisi Z, Turner SJ, Brown NJ, Desai TD and others. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Journal of Medical Genetics 2010;47:211-216.

Freilinger M, Bebbington A, Lanator I, De Klerk N, Dunkler D, Seidl R, Leonard H, Ronen GM. Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database. Dev Med Child Neurol 2010;52(10):962-5.

Fehr S, Downs J, Bebbington A, Leonard H. Atypical presentations and specific genotypes are associated with a delay in diagnosis in diagnosis in females with Rett syndrome. American Journal of Medical Genetics Part A 2010;152A:2535-2542.

Downs J, Geranton SM, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, Leonard H. Linking MECP2 and pain sensitivity: the example of Rett syndrome. American Journal of Medical Genetics Part A 2010;152A(5):1197-1205.

Downs J, Bebbington A, Jacoby P, Williams AM, Ghosh S, Kaufmann WE, Leonard H. Level of purposeful hand function as a marker of clinical severity in Rett syndrome. Developmental Medicine and Child Neurology 2010;52(9):817-823.

Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, Leonard H. Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Movement Disorders 2010;25(3):282-288.

Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben Zeev B, Bahi-Buisson N and others. Updating the profile of C-terminal MECP2 deletions in Rett syndrome. Journal of Medical Genetics 2010;47(4):242-248.

Zeev BB, Bebbington A, Ho G, Leonard H, de Klerk N, Gak E, Vecsler M, Christodoulou J. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology 2009;72(14):1242-7.

Slack-Smith L, Colvin L, Leonard H, Kilpatrick N, Bower C, Messer LB. Factors associated with dental admissions for children aged under 5 years in Western Australia. Archives of Disease in Childhood 2009;94(7):517-523.

O'Donnell M, Nassar N, Leonard H, Hagan R, Mathews R, Patterson Y, Stanley F. Increasing prevalence of neonatal withdrawal syndrome: population study of maternal factors and child protection involvement. Pediatrics 2009;123(4):e614-21.

Nassar N, Dixon G, Bourke J, Bower C, Glasson E, de Klerk N, Leonard H. Autism spectrum disorders in young children: effect of changes in diagnostic practices. International Journal of Epidemiology 2009;38(5):1245-54.

Louise S, Fyfe S, Bebbington A, Bahi-Buisson N, Anderson A, Pineda M, Percy A, Zeev BB, Wu XR, Bao XH and others. InterRett, a model for international data collection in a rare genetic disorder. Research in Autism Spectrum Disorders 2009;3(3):639-659.

Dyke P, Mulroy S, Leonard H. Siblings of children with disabilities: challenges and opportunities. Acta Paediatrica 2009;98(1):23-4.

Downs J, Young D, de Klerk N, Bebbington A, Baikie G, Leonard H. Impact of scoliosis surgery on activities of daily living in females with Rett syndrome. Journal of Pediatric Orthopedics 2009;29(4):369-74.

Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, van Bosse H, Bebbington A, Larsson EL, Smith BG and others. Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine (Phila Pa 1976) 2009;34(17):E607-17.

Ager S, Downs J, Fyfe S, Leonard H. Parental experiences of scoliosis management in Rett syndrome. Disability and Rehabilitation 2009;31(23):1917-1924.

Zurynski Y, Frith K, Leonard H, Elliott E. Rare childhood diseases: how should we respond? Archives of Disease in Childhood 2008;93(12):1071-1074.

Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H. The diagnosis of autism in a female: could it be Rett syndrome? European Journal of Pediatrics 2008;167(6):661-9.

Vanlint S, Nugent M, Durvasula S, Downs J, Leonard H. A guide for the assessment and management of vitamin D status in people with intellectual disability (developed as an AADDM Working Party initiative). Journal of Intellectual and Developmental Disabilities 2008;33(2):184-8.

Vanlint S, Nugent M, Dursuvala S, Downs J, Leonard H. Vitamin D and intellectual disability-more than the bare bones of an argument. Australian Family Physician 2008;37(5):348-51.

Mulroy S, Robertson L, Aiberti K, Bower C, Leonard H. The impact of having a sibling with an intellectual disability:parental perspectives in two disorders. Journal of Intellectual Disability Research 2008;52(3):216-229.

Morgan V, Leonard H, Bourke J, Jablensky A. Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study. The British Journal of Psychiatry 2008;193(5):364-372.

Malacova E, Li J, Blair E, Leonard H, de Klerk N, Stanley F. Association of birth outcomes and maternal, school, and neighborhood characteristics with subsequent numeracy achievement. American Journal of Epidemiology 2008;168(1):21-9.

Leonard H, Nassar N, Bourke J, Blair E, Mulroy S, de Klerk N, Bower C. Relation between intrauterine growth and subsequent intellectual disability in a ten-year population cohort of children in Western Australia. American Journal of Epidemiology 2008;167(1):103-111.

Downs JA, Bebbington A, Jacoby P, Msall ME, McIlroy O, Fyfe S, Bahi-Buisson N, Kaufmann WE, Leonard H. Gross Motor Profile in Rett Syndrome as Determined by Video Analysis. Neuropediatrics 2008;39(4):205-210.

Downs J, Bebbington A, Woodhead H, Jacoby P, Jian L, Jefferson A, Leonard H. Early determinants of fractures in Rett syndrome. Pediatrics 2008;121(3):540-6.

Bourke J, Ricciardo B, Bebbington A, Aiberti K, Jacoby P, Dyke P, Msall M, Bower C, Leonard H. Physical and mental health in mothers of children with Down syndrome. The Journal of Pediatrics 2008;153(3):320-6.

Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE and others. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology 2008;70(11):868-75.

Young D, Nagarajan L, de Klerk N, Jacoby P, Ellaway C, Leonard H. Sleep problems in Rett syndrome. Brain and Development 2007;29(10):609-16.

Petterson B, Bourke J, Leonard H, Jacoby P, Bower C. Co-occurrence of birth defects and intellectual disability. Paediatric and Perinatal Epidemiology 2007;21(1):65-75.

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 Gastroenterology and Nutrition 2007;45(5):582-90.

Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. Seizures in Rett syndrome: an overview from a one-year calendar study. European Journal of Paediatric Neurology 2007;11(5):310-7.

Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR and others. 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.

Fyfe S, Downs J, McIlroy O, Burford B, Lister J, Reilly S, Laurvick CL, Philippe C, Msall M, Kaufmann WE and others. Development of a video-based evaluation tool in Rett syndrome. Journal of Autism and Developmental Disorders 2007;37(9):1636-46.

Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J and others. 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):148-52.

Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D. Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. Journal of Medical Genetics 2006;43(6):470-477.

Robertson L, Hall S, Jacoby P, Ellaway C, De Klerk N, Leonard H. The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database. American Journal of  Medical Genetics- Part B Neuropsychiatrics 2006;141(2):177-83.

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(6):448-54.

Laurvick CL, Msall ME, Silburn S, Bower C, de Klerk N, Leonard H. Physical and mental health of mothers caring for a child with Rett syndrome. Pediatrics 2006;118(4):e1152-64.

Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, Ellaway C, Williamson S, Leonard H. Rett syndrome in Australia: a review of the epidemiology. The Journal of Pediatrics 2006;148(3):347-52.

Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS, Friez M, Lane J, Kiraly-Borri C and others. Early progressive encephalopathy in boys and MECP2 mutations. Neurology 2006;67(1):164-166.

Jian L, Nagarajan L, de Klerk N, Ravine D, Bower C, Anderson A, Williamson S, Christodoulou J, Leonard H. Predictors of seizure onset in Rett syndrome. The Journal of Pediatrics 2006;149(4):542-547.

Archer HL, Evans JC, Millar DS, Thompson PW, Kerr AM, Leonard H, Christodoulou J, Ravine D, Lazarou L, Grove L and others. NTNG1 mutations are a rare cause of Rett syndrome. American Journal of Medical Genetics Part A 2006;140A(7):691-694.

Ager S, Fyfe S, Christodoulou J, Jacoby P, Schmitt L, Leonard H. Predictors of scoliosis in Rett syndrome. Journal of Child Neurology 2006;21(9):809-813.

Williams K, Leonard H, d'Espaignet ET, Colvin L, Slack-Smith L, Stanley F. Hospitalisations from birth to 5 years in a population cohort of Western Australian children with intellectual disability. Archives of Disease in Childhood 2005;90(12):1243-1248.

Petterson B, Leonard H, Bourke J, Sanders R, Chalmers R, Jacoby P, Bower C. IDEA (Intellectual Disability Exploring Answers): A population-based database for intellectual disability in Western Australia. Annals of Human Biology 2005;32(2):237-243.

Moore H, Leonard H, Fyfe S, de Klerk N, Leonard N. InterRett-The application of bioinformatics to International Rett syndrome research. Annals of Human Biology 2005;32(2):228-236.

Moore H, Leonard H, de Klerk N, Robertson I, Fyfe S, Christodoulou J, Weaving L, Davis M, Mulroy S, Colvin L. Health service use in Rett syndrome. Journal of Child Neurology 2005;20(1):42-50.

Leonard H, Petterson B, De Klerk N, Zubrick SR, Glasson E, Sanders R, Bower C. Association of sociodemographic characteristics of children with intellectual disability in Western Australia. Social Science and Medicine 2005;60(7):1499-513.

Leonard H, Moore H, Carey M, Fyfe S, Hall S, Robertson L, Wu XR, Bao X, Pan H, Christodoulou J and others. Genotype and early development in Rett syndrome: The value of international data. Brain and Development 2005;27 Suppl 1:S59-68.

Leonard H, Davis MR, Turbett GR, Laing NG, Bower C, Ravine D. Effectiveness of posthumous molecular diagnosis from a kept baby tooth. Lancet 2005;366(9496):1584-1584.

Leonard H. Some socio-demographic and technological trends in the developed world and their impact on Down syndrome [editorial]. Italian Journal of Paediatrics 2005;31:213-216.

Jian L, Archer HL, Ravine D, Kerr A, de Klerk N, Christodoulou J, Bailey ME, Laurvick C, Leonard H. p.R270X MECP2 mutation and mortality in Rett syndrome. European Journal of Human Genetics 2005;13(11):1235-1238.

Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP and others. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. American Journal of Human Genetics 2004;75(6):1079-93.

Moore H, Leonard N, Leonard H, de Klerk N, Robertson I, Fyfe S. Longitudinal data collection using the Internet: a novel approach for adolescents. Australasian Epidemiologist 2004;11(1):20-24.

Leonard H, Weaving L, Eastaugh P, Smith L, Delatycki M, Engerstrom IW, Christodoulou J. Trisomy 21 and Rett syndrome: A double burden. Journal of Paediatrics and Child Health 2004;40(7):406-409.

Leonard H, Slack-Smith L, Phillips T, Richardson S, D'Orsogna L, Mulroy S. How can the Internet help parents of children with rare neurologic disorders? Journal of Child Neurology 2004;19(11):902-907.

Colvin L, Leonard H, De Klerk N, Davis M, Weaving L, Williamson S, Christodoulou J. Refining the phenotype of common mutations in Rett syndrome. Journal of Medical Genetics 2004;41:25-30.

Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N and others. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. American Journal of Medical Genetics Part A 2003;118A:103-114.

Umansky R, Watson JS, Colvin L, Fyfe S, Leonard S, de Klerk N, Leonard H. Hand preference, extent of laterality, and functional hand use in Rett syndrome. Journal of Child Neurology 2003;18:481-7.

Slack-Smith L, Ree M, Leonard H. Preventive oral care for children with intellectual disability: Parental perceptions. Journal of Dental Research 2003;82:73-73.

Leonard H, Petterson B, Bower C, Sanders R. Prevalence of intellectual disability in Western Australia. Paediatric and Perinatal Epidemiology 2003;17:58-67.

Leonard H, Colvin L, Christodoulou J, Schiavello T, Williamson S, Davis M, Ravine D, Fyfe S, de Klerk N, Matsuishi T and others. Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? Journal of Medical Genetics 2003;40:e52.

Gill H, Cheadle JP, Maynard J, Fleming N, Whatley S, Cranston T, Thompson EM, Leonard H, Davis M, Christodoulou J and others. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of Medical Genetics 2003;40:380-384.

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;18:709-713.

Colvin L, Fyfe S, Leonard S, Schiavello T, Ellaway C, De Klerk N, Christodoulou J, Msall M, Leonard H. Describing the phenotype in Rett syndrome using a population database. Archives of Disease in Childhood 2003;88:38-43.

Leonard S, Msall M, Bower C, Tremont M, Leonard H. Functional status of school-aged children with Down syndrome. Journal of Paediatrics and Child Health 2002;38:160-165.

Leonard H, Wen XY. The epidemiology of mental retardation: Challenges and opportunities in the new millennium. Mental Retardation and Developmental Disabilities Research Reviews 2002;8:117-134.

Raffaele LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N and others. MECP2 mutation type, affected domain, X-inactivation and phenotypic outcome in Rett syndrome. American Journal of Human Genetics 2001;69(4):1185.

Leonard H, Silberstein J, Falk R, Houwink-Manville I, Ellaway C, Raffaele LS, Engerstrom IW, Schanen C. Occurrence of Rett syndrome in boys. Journal of Child Neurology 2001;16:333-338.

Leonard H, Fyfe S, Leonard S, Msall M. Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective. Disability and Rehabilitation 2001;23:107-117.

Kerr AM, Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C and others. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain and Development 2001;23:208-211.

Fyfe S, Leonard H, Gelmi R, Tassell A, Strack R. Using the internet to pilot a questionnaire on childhood disability in Rett syndrome. Child: Care, Health and Development 2001;27:535-543.

Ellaway CJ, Peat J, Williams K, Leonard H, Christodoulou J. Medium-term open label trial of L-carnitine in Rett syndrome. Brain and Development 2001;23(Suppl 1):S85-S89.

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;10:185-188.

Ellaway C, Peat J, Leonard H, Christodoulou J. Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration. Brain and Development 2001;23(Suppl 1):S101-S103.

Leonard S, Bower C, Petterson B, Leonard H. Survival of infants born with Down's syndrome: 1980-96. Paediatric and Perinatal Epidemiology 2000;14:163-171.

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(1):85-95.

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.

Gill HK, Cheadle JP, Maynard J, Fleming N, Kerr A, Leonard H, Thompson EM, Hanefeld F, Skjeldal O, Sampson J and others. MECP2 analysis in possible familial Rett syndrome. American Journal of Human Genetics 2000;67(4):706.

Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N and others. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location (vol 9, pg 1119, 2000). Human Molecular Genetics 2000;9(11):1717-1717.

Bower C, Leonard H, Petterson B. Intellectual disability in Western Australia. Journal of Paediatrics and Child Health 2000;36:213-215.

Leonard S, Msall ME, Bower C, Leonard H, Tremont MR, Peterson B. Functional skills in self-care, mobility, and communication in 211 school aged children with Down syndrome in Western Australia. Pediatric Research 1999;45(4):81.

Leonard S, Bower C, Petterson B, Leonard H. Medical aspects of school-aged children with Down syndrome. Developmental Medicine and Child Neurology 1999;41:683-688.

Leonard H, Thomson MR, Glasson EJ, Fyfe S, Leonard S, Bower C, Christodoulou J, Ellaway C. A population-based approach to the investigation of osteopenia in Rett syndrome. Developmental Medicine and Child Neurology 1999;41:323-328.

Leonard H, Thomson M, Glasson E, Fyfe S, Leonard S, Ellaway C, Christodoulou J, Bower C. 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.

Leonard H, Fletcher S. Inherited metabolic diseases: beyond newborn screening. The Medical Journal of Australia 1999;170:573-4.

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;14:440-445.

Ellaway CJ, Sholler G, Leonard H, Christodoulou J. Prolonged QT interval in Rett syndrome. Archives of Disease in Childhood 1999;80:470-472.

Ellaway C, Williams K, Leonard H, Higgins G, Wilcken B, Christodoulou J. Rett Syndrome: Randomized controlled trial of L-carnitine. Journal of Child Neurology 1999;14:162-167.

Leonard H, Bower C. Is the girl with Rett syndrome normal at birth? Developmental Medicine and Child Neurology 1998;40:115-121.

Glasson EJ, Bower C, Thomson MR, Fyfe S, Leonard S, Rousham E, Christodoulou J, Ellaway C, Leonard H. Diagnosis of Rett syndrome: can a radiograph help? Developmental Medicine and Child     Neurology 1998;40:737-742.

Ellaway C, Buchholz T, Smith A, Leonard H, Christodoulou J. Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status. Journal of Child Neurology 1998;13:448-451.

Leonard H, Bower C, English D. The prevalence and incidence of Rett syndrome in Australia. European Child and Adolescent Psychiatry 1997;6(Suppl 1):8-10.

Leonard H, Thomson M, Bower C, Fyfe S, Constantinou J. Skeletal abnormalities in Rett Syndrome: Increasing evidence for dysmorphogenetic defects. American Journal of Medical Genetics 1995;58:282-285.

 

 

Book Chapters:

Leonard H, Ravine D, Tuberous Sclerosis. Management Guidelines: People with Developmental and Intellectual Disabilities. (Second Edition)Therapeutic Guidelines Limited; 2005. p. 274-76.

Leonard H, Ravine D, Rett syndrome. Management Guidelines: People with Developmental and Intellectual Disabilities. (Second Edition)Therapeutic Guidelines Limited; 2005. p. 277-80.

Leonard H, Ravine D, Williams syndrome. Management Guidelines: People with Developmental and Intellectual Disabilities. (Second Edition)Therapeutic Guidelines Limited; 2005. p. 281-83.

Leonard H, Ravine D, Angelman syndrome. Management Guidelines: People with Developmental and Intellectual Disabilities. (Second Edition)Therapeutic Guidelines Limited; 2005. p. 285-88.

Leonard H, Ravine D, Noonan syndrome. Management Guidelines: People with Developmental and Intellectual Disabilities. (Second Edition)Therapeutic Guidelines Limited; 2005. p. 289-292.

Ravine D, Leonard H, Neurofibromatosis type 1. Management Guidelines: People with Developmental and Intellectual Disabilities. (Second Edition)Therapeutic Guidelines Limited; 2005. p. 293-296.

Leonard H, Leonard S. The ICF and Rett Syndrome. In: ICF Australian User Guide. Version 1.0. Disability Series. First ed. Canberra: Australian Institute of Health and Welfare; 2003. p. 99-105.

Leonard H, Fyfe S, Ellaway C. Possible link between skeletal and electrocardiographic abnormalities and autonomic dysfunction in Rett syndrome. In: Kerr AM, Engerström IW, editors. Rett Disorder and the developing Brain. Oxford: Oxford University Press; 2001. p. 265-267.

Leonard H. Noonan Syndrome. In: Lennox N, Diggens J, editors. Management Guidelines People with Developmental and Intellectual Disabilities. First ed. Melbourne: Therapeutic Guidelines Limited; 1999. p. 243-245.

Leonard H. Tuberous Sclerosis. In: Lennox N, Diggens J, editors. Management Guidelines People with Developmental and Intellectual Disabilities. First ed. Melbourne: Therapeutic Guidelines Limited; 1999. p. 227-229.

Leonard H. Rett Syndrome. In: Lennox N, Diggens J, editors. Management Guidelines People with Developmental and Intellectual Disabilities. First ed. Melbourne: Therapeutic Guidelines Limited; 1999. p. 231-234. 35.   

Leonard H. Williams Syndrome. In: Lennox N, Diggens J, editors. Management Guidelines People with Developmental and Intellectual Disabilities. First ed. Melbourne: Therapeutic Guidelines Limited; 1999. p. 235-237.

Leonard H. Angelman Syndrome. In: Lennox N, Diggens J, editors. Management Guidelines People with Developmental and Intellectual Disabilities. First ed. Melbourne: Therapeutic Guidelines Limited; 1999. p. 239-241.


Unrefereed journal articles:

Moore H, Leonard N, Leonard H, de Klerk N, Robertson I, Fyfe S. Longitudinal data collection using the Internet: a novel approach for adolescents. Australasian Epidemiologist 2004;11(1):20-24.

Leonard H. Rett's syndrome: opportunity for Australian study (letter). Med. J. Aust. 1993;159:832.

Leonard H. The genetics of Rett syndrome. Bulletin of the Human Genetics Society of Australasia 1994;7:18-20.


Reports:

Dyke P, Leonard H, Bourke J, Bebbington A, Bower C. Down Syndrome Needs Opinions Wishes Study Report. Perth: Telethon Institute for Child Health Research; 2007.

Dyke P, Leonard H The Australian Rett Syndrome Study 2006 Report. Perth: Telethon Institute for Child Health Research; 2006.

Leonard H, Petterson B, Bourke J, Morgan V, Glasson E, Bower C. Inaugural Report of the IDEA Database: Intellectual Disability in Western Australia. Perth: Telethon Institute for Child Health Research; 2004.

The Australian Rett Syndrome Study Inaugural Report. Perth: Telethon Institute for Child Health Research; 2002.

Alessandri LM, Leonard H, Blum LM, Bower C. Disability Counts: A Profile of People with Disabilities in Western Australia. Perth: Disability Services Commission; 1996. Report No.: 0 7309 8766 3.

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