H. Leonard

发表

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

J. Christodoulou, Y. Zurynski, M. Deverell, 2017, Orphanet Journal of Rare Diseases.

Monitoring child abuse and neglect at a population level: patterns of hospital admissions for maltreatment and assault.

F. Stanley, H. Leonard, M. O'Donnell, 2010, Child abuse & neglect.

Evaluation of the processes of family-centred care for young children with intellectual disability in Western Australia.

H. Leonard, P. Jacoby, A. Wilkins, 2010, Child: care, health and development.

Choice making in Rett syndrome: a descriptive study using video data

S. Girdler, H. Leonard, A. Urbanowicz, 2018, Disability and rehabilitation.

Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome

H. Leonard, J. Downs, Nicholas Buckley, 2021, Disability and rehabilitation.

Rett syndrome: Revised diagnostic criteria and nomenclature

W. Kaufmann, P. Huppke, A. Clarke, 2010, Annals of neurology.

Aspects of speech‐language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

S. Girdler, H. Leonard, A. Urbanowicz, 2015, American journal of medical genetics. Part A.

The Natural History of Scoliosis in Females With Rett Syndrome

J. Christodoulou, H. Leonard, P. Jacoby, 2016, Spine.

Parental perspectives on the communication abilities of their daughters with Rett syndrome

S. Girdler, H. Leonard, A. Urbanowicz, 2016, Developmental neurorehabilitation.

An Exploration of the Use of Eye Gaze and Gestures in Females With Rett Syndrome.

S. Girdler, H. Leonard, A. Urbanowicz, 2016, Journal of speech, language, and hearing research : JSLHR.

Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome

H. Leonard, C. Ellaway, J. Downs, 2011, Journal of child neurology.

Using a large international sample to investigate epilepsy in Rett syndrome

H. Leonard, J. Downs, Kingsley Wong, 2013, Developmental medicine and child neurology.

Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort study

H. Leonard, P. Jacoby, N. de Klerk, 2016, Autism : the international journal of research and practice.

Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort.

Stefan N Hansen, J. Buxbaum, A. Suominen, 2019, JAMA psychiatry.

Stillbirth risk prediction using machine learning for a large cohort of births from Western Australia, 1980–2015

Kevin E. K. Chai, A. Phatak, A. Gebremedhin, 2020, Scientific Reports.

The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and Trends

Kim W. Carter, Mika Gissler, Mady Hornig, 2013, Journal of Autism and Developmental Disorders.

Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

Rodney C. Samaco, M. Sahin, H. Leonard, 2022, Orphanet Journal of Rare Diseases.

Survival with Rett syndrome: comparing Rett’s original sample with data from the Australian Rett Syndrome Database

H. Leonard, N. de Klerk, D. Dunkler, 2010, Developmental medicine and child neurology.

Prolonged QT interval in Rett syndrome

J. Christodoulou, H. Leonard, G. Sholler, 1999, Archives of disease in childhood.

Association of Gestational Age at Birth with Reasons for Subsequent Hospitalisation: 18 Years of Follow-Up in a Western Australian Population Study

H. Leonard, K. Einarsdóttir, D. Burgner, 2015, PloS one.

Building the repertoire of measures of walking in Rett syndrome

H. Leonard, J. Downs, Michelle Stahlhut, 2017, Disability and rehabilitation.

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

H. Leonard, P. Jacoby, K. Hill, 2015, Disability and rehabilitation.

The Brain Basis of Comorbidity in Neurodevelopmental Disorders

Jess E. Reynolds, G. Alvares, H. Leonard, 2019, Current Developmental Disorders Reports.

Rett Syndrome: Randomized Controlled Trial of L-Carnitine

J. Christodoulou, H. Leonard, C. Ellaway, 1999, Journal of child neurology.

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

H. Leonard, B. Weiss, A. Siafarikas, 2016, PloS one.

Sleep problems in Rett syndrome

D. Young, H. Leonard, P. Jacoby, 2007, Brain and Development.

The trajectories of sleep disturbances in Rett syndrome

H. Leonard, P. Jacoby, C. Ellaway, 2015, Journal of sleep research.

“I have a good life”: the meaning of well-being from the perspective of young adults with Down syndrome

S. Girdler, H. Leonard, J. Bourke, 2014, Disability and rehabilitation.

Effects of MECP2 mutation type, location and X‐inactivation in modulating Rett syndrome phenotype

N. Laing, J. Christodoulou, H. Leonard, 2003, American journal of medical genetics. Part A.

Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder

A. Bergin, H. Leonard, J. Downs, 2019, Epilepsy Research.

Relationship between family quality of life and day occupations of young people with Down syndrome

G. Llewellyn, N. Lennox, S. Girdler, 2014, Social Psychiatry and Psychiatric Epidemiology.

Increasing Prevalence of Neonatal Withdrawal Syndrome: Population Study of Maternal Factors and Child Protection Involvement

F. Stanley, H. Leonard, M. O'Donnell, 2009, Pediatrics.

Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability Research.

H. Leonard, M. Lloyd, Y. Lunsky, 2019, Intellectual and developmental disabilities.

Epidemiology of Rare Craniofacial Anomalies. Retrospective Western Australian Population Data Linkage Study.

G. Baynam, H. Leonard, H. Calache, 2021, The Journal of pediatrics.

Young adults with intellectual disability transitioning from school to post-school: A literature review framed within the ICF

S. Girdler, H. Leonard, P. Dyke, 2012, Disability and rehabilitation.

Maternal mental health and risk of child protection involvement: mental health diagnoses associated with increased risk

F. Stanley, H. Leonard, V. Morgan, 2015, Journal of Epidemiology & Community Health.

The use of cross‐jurisdictional population data to investigate health indicators of child maltreatment

F. Stanley, H. Leonard, M. O'Donnell, 2010, The Medical journal of Australia.

IDEA (Intellectual Disability Exploring Answers): A population-based database for intellectual disability in Western Australia

H. Leonard, P. Jacoby, C. Bower, 2005, Annals of human biology.

The Impact of Single Gene and Chromosomal Disorders on Hospital Admissions of Children and Adolescents: A Population-Based Study

J. Goldblatt, H. Leonard, P. O'Leary, 2010, Public Health Genomics.

Feasibility of Assessing Diet with a Mobile Food Record for Adolescents and Young Adults with Down Syndrome

E. Delp, D. Kerr, C. Boushey, 2017, Nutrients.

Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-being.

G. Llewellyn, H. Leonard, N. de Klerk, 2019, Disability and health journal.

Pre-existing differences in mothers of children with Autism Spectrum disorder and/or intellectual disability: A review

H. Leonard, J. Fairthorne, J. Bourke, 2013 .

Autism and Intellectual Disability Are Differentially Related to Sociodemographic Background at Birth

F. Stanley, H. Leonard, P. Jacoby, 2011, PloS one.

Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study

G. Baynam, H. Leonard, H. Calache, 2022, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia

G. Baynam, H. Leonard, H. Calache, 2021, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Neonatal complications in public and private patients: a retrospective cohort study

D. Preen, F. Stanley, H. Leonard, 2013, BMJ Open.

For peer review only Neonatal Complications in Public and Private Patients: A Cohort study

F. Stanley, H. Leonard, S. Haggar, 2013 .

Using the Internet to pilot a questionnaire on childhood disability in Rett syndrome.

H. Leonard, R. Strack, S. Fyfe, 2001, Child: care, health and development.

Effectiveness of posthumous molecular diagnosis from a kept baby tooth

N. Laing, H. Leonard, Mark R. Davis, 2005, The Lancet.

Recurrence Risk of Autism in Siblings and Cousins: A Multi-National, Population-Based Study.

Stefan N Hansen, J. Buxbaum, M. Gissler, 2019, Journal of the American Academy of Child and Adolescent Psychiatry.

Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

J. Trollor, H. Leonard, P. Jacoby, 2018, Journal of pediatric gastroenterology and nutrition.

Gastrointestinal Dysmotility in Rett Syndrome

H. Leonard, B. Weiss, C. Ellaway, 2014, Journal of pediatric gastroenterology and nutrition.

Risk of Developmental Disorders in Children of Immigrant Mothers: A Population‐Based Data Linkage Evaluation

H. Leonard, N. de Klerk, R. Mutch, 2019, The Journal of pediatrics.

Assessing the quality, efficiency and usefulness of the Western Australian population-based Intellectual Disability Exploring Answers (IDEA) surveillance system: a surveillance system evaluation

K. Edmond, H. Leonard, A. Richardson, 2019, BMJ Open.

Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: a retrospective cohort study.

H. Leonard, P. Jacoby, N. de Klerk, 2015, Journal of psychiatric research.

The relationship between maternal psychiatric disorder, autism spectrum disorder and intellectual disability in the child: a composite picture

H. Leonard, N. Klerk, J. Fairthorne, 2015 .

Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome

H. Leonard, K. Hill, J. Downs, 2012, Disability and rehabilitation.

Intellectual Disability in Children Conceived Using Assisted Reproductive Technology

G. Baynam, H. Leonard, K. Greenop, 2018, Pediatrics.

Twenty‐Five Year Survival of Children with Intellectual Disability in Western Australia

H. Leonard, W. Nembhard, Kingsley Wong, 2017, The Journal of pediatrics.

Prevalence of intellectual disability in Western Australia.

H. Leonard, C. Bower, B. Petterson, 2003, Paediatric and perinatal epidemiology.

Co-occurrence of birth defects and intellectual disability.

H. Leonard, P. Jacoby, C. Bower, 2007, Paediatric and perinatal epidemiology.

The phenotype associated with a large deletion on MECP2

H. Leonard, M. Pineda, N. Bahi-Buisson, 2012, European Journal of Human Genetics.

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

J. Christodoulou, H. Leonard, D. Ravine, 2009, Journal of Medical Genetics.

Caring for a child with severe intellectual disability in China: The example of Rett syndrome

H. Leonard, Jianghong Li, J. Downs, 2013, Disability and rehabilitation.

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Katrina Jane Williams, H. Leonard, D. Reddihough, 2016, American journal of medical genetics. Part A.

School-based health education programmes, health-learning capacity and child oral health–related quality of life

H. Leonard, G. Humphris, R. Freeman, 2016 .

The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future Research

H. Leonard, N. Klerk, R. Mutch, 2018 .

Association between interpregnancy interval and adverse birth outcomes in women with a previous stillbirth: an international cohort study

M. Gissler, H. Leonard, G. Pereira, 2019, The Lancet.

Modifiable child and caregiver factors that influence community participation among children with Down syndrome

H. Leonard, D. Reddihough, P. Jacoby, 2020, Disability and rehabilitation.

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin‐dependent kinase‐like 5 deficiency disorder

E. Marsh, H. Leonard, P. Jacoby, 2022, Journal of sleep research.

Comorbidities and quality of life in children with intellectual disability.

Katrina Jane Williams, H. Leonard, D. Reddihough, 2021, Child: care, health and development.

Implementing telehealth support to increase physical activity in girls and women with Rett syndrome—ActivRett: protocol for a waitlist randomised controlled trial

N. Buckley, H. Leonard, J. Downs, 2020, BMJ Open.

Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

H. Leonard, J. Downs, Kingsley Wong, 2017, Orphanet Journal of Rare Diseases.

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

H. Leonard, J. Downs, Kingsley Wong, 2016, Orphanet Journal of Rare Diseases.

Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype

H. Leonard, J. Downs, Kingsley Wong, 2016, American journal of medical genetics. Part A.

Barriers to diagnosis of a rare neurological disorder in China—Lived experiences of Rett syndrome families

H. Leonard, Jianghong Li, J. Downs, 2012, American journal of medical genetics. Part A.

The prevalence and incidence of Rett syndrome in Australia.

D. English, H. Leonard, C. Bower, 1997, European child & adolescent psychiatry.

Linking MECP2 and pain sensitivity: The example of Rett syndrome

H. Leonard, D. Ravine, P. Jacoby, 2010, American journal of medical genetics. Part A.

Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome

H. Leonard, P. Crock, P. Jacoby, 2022, European Journal of Pediatrics.

Clinical and biological progress over 50 years in Rett syndrome

S. Cobb, H. Leonard, J. Downs, 2017, Nature Reviews Neurology.

Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent Decades.

H. Leonard, Kingsley Wong, J. Bourke, 2016, The Journal of pediatrics.

An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome

H. Leonard, Kingsley Wong, J. Bourke, 2018, PloS one.

Caesarean section and risk of autism across gestational age: a multi-national cohort study of 5 million births.

M. Gissler, C. Stoltenberg, R. Francis, 2016, International journal of epidemiology.

Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)

E. Marsh, H. Leonard, P. Jacoby, 2022, Journal of child neurology.

Rett Syndrome: Significant Clinical Overlap With Angelman Syndrome but Not With Methylation Status

J. Christodoulou, H. Leonard, A. Smith, 1998, Journal of child neurology.

A guide for the assessment and management of vitamin D status in people with intellectual disability (developed as an AADDM Working Party initiative)

H. Leonard, J. Downs, S. Durvasula, 2008, Journal of intellectual & developmental disability.

Association of gestational age and growth measures at birth with infection-related admissions to hospital throughout childhood: a population-based, data-linkage study from Western Australia.

Z. Bhutta, F. Stanley, K. Carter, 2016, The Lancet. Infectious diseases.

Measurement of Sedentary Behaviors or “Downtime” in Rett Syndrome

H. Leonard, K. Hill, J. Downs, 2017, Journal of child neurology.

Patterns of Pregnancy Loss, Perinatal Mortality, and Postneonatal Childhood Deaths in Families of Girls With Rett Syndrome

H. Leonard, S. Fyfe, D. Dye, 1999, Journal of child neurology.

Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

G. Baynam, H. Leonard, J. Downs, 2022, Children.

Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset

H. Leonard, T. Benke, J. Downs, 2020, Clinical genetics.

A systematic review of the biological, social, and environmental determinants of intellectual disability in children and adolescents

Katrina Jane Williams, G. Alvares, H. Leonard, 2022, Frontiers in Psychiatry.

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

H. Leonard, J. Heyworth, J. Downs, 2017, Journal of Neurodevelopmental Disorders.

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

Meredith Wilson, J. Christodoulou, H. Leonard, 2012, European Journal of Human Genetics.

Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

D. Bick, H. Leonard, J. Rouse, 2020, American journal of medical genetics. Part A.

Functional abilities in children and adults with the CDKL5 disorder

J. Christodoulou, H. Leonard, N. de Klerk, 2016, American journal of medical genetics. Part A.

NTNG1 mutations are a rare cause of Rett syndrome

A. Clarke, D. Pilz, J. Christodoulou, 2006, American journal of medical genetics. Part A.

Devising a Missing Data Rule for a Quality of Life Questionnaire—A Simulation Study

H. Leonard, P. Jacoby, Jacinta M. Saldaris, 2022, Journal of developmental and behavioral pediatrics : JDBP.

Quality of life beyond diagnosis in intellectual disability - Latent profiling.

Katrina Jane Williams, H. Leonard, D. Reddihough, 2022, Research in developmental disabilities.

Seizures in Rett syndrome: an overview from a one-year calendar study.

J. Christodoulou, H. Leonard, D. Ravine, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Early progressive encephalopathy in boys and MECP2 mutations

W. Kaufmann, M. Friez, J. Christodoulou, 2006, Neurology.

Changes in Caesarean Delivery Rates in Western Australia from 1995 to 2010 by Gestational Age at Birth.

F. Stanley, H. Leonard, P. Jacoby, 2015, Paediatric and perinatal epidemiology.

Hip displacement and scoliosis in Rett syndrome – screening is required

H. Leonard, D. Reddihough, G. Baikie, 2010, Developmental medicine and child neurology.

Physical and mental health in mothers of children with Down syndrome.

M. Msall, H. Leonard, P. Jacoby, 2008, The Journal of pediatrics.

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

H. Lu, H. Leonard, D. Ravine, 2012, Clinical genetics.

Health care utilization and costs for children and adults with duchenne muscular dystrophy

N. Laing, H. Leonard, E. Geelhoed, 2016, Muscle & nerve.

Requirements for improving health and well‐being of children with Prader‐Willi syndrome and their families

H. Leonard, P. Crock, G. Ambler, 2019, Journal of paediatrics and child health.

Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families

H. Leonard, J. Downs, 2016, Wiener Medizinische Wochenschrift.

Mothers of children with autism have different rates of cancer according to the presence of intellectual disability in their child

H. Leonard, A. Whitehouse, J. Fairthorne, 2016, Journal of Autism and Developmental Disorders.

Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study

H. Leonard, P. Crock, P. Jacoby, 2021, Journal of Autism and Developmental Disorders.

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

J. Christodoulou, H. Leonard, N. de Klerk, 2009, Neurology.

Experience of Gastrostomy Using a Quality Care Framework: The Example of Rett Syndrome

J. Christodoulou, H. Leonard, P. Jacoby, 2014, Medicine.

Rett Syndrome Behaviour Questionnaire: Psychometric characterization and revised factor structure

L. Oberman, H. Leonard, --Manuscript Draft, 2022 .

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

H. Leonard, J. Downs, S. Fehr, 2010, American journal of medical genetics. Part A.

Feeding Experiences and Growth Status in a Rett Syndrome Population

D. Young, H. Leonard, W. Oddy, 2007, Journal of pediatric gastroenterology and nutrition.

Assessment and Management of Nutrition and Growth in Rett Syndrome

H. Leonard, C. Ellaway, J. Downs, 2013, Journal of pediatric gastroenterology and nutrition.

Trends in the Diagnosis of Rett Syndrome in Australia

H. Leonard, N. Nassar, N. Klerk, 2011, Pediatric Research.

Parental experiences of scoliosis management in Rett syndrome

H. Leonard, J. Downs, S. Fyfe, 2009, Disability and rehabilitation.

Enablers and barriers in dental attendance in Rett syndrome: an international observational study

H. Leonard, L. Walsh, J. Downs, 2022, Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry.

Oral health experiences of individuals with Rett syndrome: a retrospective study

H. Leonard, J. Downs, J. Downs, 2018, BMC Oral Health.

Family satisfaction following spinal fusion in Rett syndrome

J. Christodoulou, H. Leonard, P. Jacoby, 2016, Developmental neurorehabilitation.

Bone Mineral Content and Density in Rett Syndrome and Their Contributing Factors

H. Leonard, P. Jacoby, B. Strauss, 2011, Pediatric Research.

Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration

J. Christodoulou, H. Leonard, C. Ellaway, 2001, Brain and Development.

Variation over time in medical conditions and health service utilization of children with Down syndrome.

S. Girdler, H. Leonard, P. Jacoby, 2011, The Journal of pediatrics.

Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study

H. Leonard, N. de Klerk, Keely Bebbington, 2019, Journal of Autism and Developmental Disorders.

Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring

H. Leonard, J. Fairthorne, J. Bourke, 2015, Journal of Autism and Developmental Disorders.

Mothers of Children with Autism have Different Rates of Cancer According to the Presence of Intellectual Disability in Their Child

H. Leonard, N. de Klerk, A. Whitehouse, 2016, Journal of Autism and Developmental Disorders.

The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database

H. Leonard, P. Jacoby, S. Hall, 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability

H. Leonard, J. Heyworth, J. Downs, 2017, Journal of Autism and Developmental Disorders.

Investigating genotype–phenotype relationships in Rett syndrome using an international data set

W. Kaufmann, H. Leonard, D. Ravine, 2008, Neurology.

Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

G. Baynam, H. Leonard, J. Downs, 2022, Children.

Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome.

H. Leonard, J. Downs, Kingsley Wong, 2021, The Journal of pediatrics.

Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

H. Leonard, J. Downs, Kingsley Wong, 2019, European Child & Adolescent Psychiatry.

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

J. Christodoulou, H. Leonard, N. de Klerk, 2016, Neurology.

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors.

H. Leonard, P. Jacoby, J. Downs, 2015, Bone.

There is variability in the attainment of developmental milestones in the CDKL5 disorder

J. Christodoulou, H. Leonard, N. de Klerk, 2015, Journal of Neurodevelopmental Disorders.

Resourceful and creative methods are necessary to research rare disorders

H. Leonard, J. Downs, Kingsley Wong, 2013, Developmental medicine and child neurology.

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population.

D. Young, H. Leonard, N. de Klerk, 2011, Research in autism spectrum disorders.

Stereotypical hand movements in 144 subjects with Rett syndrome from the population‐based Australian database

W. Kaufmann, H. Leonard, P. Jacoby, 2010, Movement disorders : official journal of the Movement Disorder Society.

InterRett, a model for international data collection in a rare genetic disorder.

H. Leonard, J. Armstrong, M. Pineda, 2009, Research in autism spectrum disorders.

InterRett—The application of bioinformatics to International Rett syndrome research

H. Leonard, N. de Klerk, H. Moore, 2005, Annals of human biology.

Prevalence estimates of mental health problems in children and adolescents with intellectual disability: A systematic review and meta-analysis

N. Buckley, R. Skoss, H. Leonard, 2020, The Australian and New Zealand journal of psychiatry.

Systematic Review and Meta-Analysis: Mental Health in Children With Neurogenetic Disorders Associated With Intellectual Disability.

N. Buckley, R. Skoss, H. Leonard, 2020, Journal of the American Academy of Child and Adolescent Psychiatry.

The prevalence of mental health disorders and symptoms in children and adolescents with cerebral palsy: a systematic review and meta‐analysis

R. Skoss, H. Leonard, P. Jacoby, 2018, Developmental medicine and child neurology.

Rare childhood diseases: how should we respond?

Y. Zurynski, H. Leonard, E. Elliott, 2008, Archives of Disease in Childhood.

Maternal Conditions and Perinatal Characteristics Associated with Autism Spectrum Disorder and Intellectual Disability

F. Stanley, C. Pennell, H. Leonard, 2013, PloS one.

Overview of Health Issues in School-aged Children with Down Syndrome

Aditya M. Deshpande, S. Girdler, H. Leonard, 2010 .

Oral health education and promotion in special needs children: systematic review and meta-analysis.

H. Leonard, L. Walsh, J. Downs, 2020, Oral diseases.

Health Conditions and Their Impact among Adolescents and Young Adults with Down Syndrome

N. Lennox, H. Leonard, T. Pikora, 2014, PloS one.

Oral parafunction and bruxism in Rett syndrome and associated factors: an observational study.

H. Leonard, L. Walsh, J. Downs, 2021, Oral diseases.

Community participation: Conversations with parent-carers of young women with Rett syndrome†

H. Leonard, E. Walker, Frances R. Crawford, 2014 .

Transition to adulthood for young people with intellectual disability: the experiences of their families

Lynne McPherson, N. Lennox, H. Leonard, 2016, European Child & Adolescent Psychiatry.

Rett syndrome in Australia: a review of the epidemiology.

Carol Bower, J. Christodoulou, H. Leonard, 2006, The Journal of pediatrics.

Autism risk associated with parental age and with increasing difference in age between the parents

M Gissler, M Hornig, H Leonard, 2015, Molecular Psychiatry.

Autism spectrum disorders in young children: effect of changes in diagnostic practices.

H. Leonard, N. de Klerk, N. Nassar, 2009, International journal of epidemiology.

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

J. Gécz, A. Clarke, P. Tam, 2004, American journal of human genetics.

Correlation between clinical severity in patients with Rett syndrome with a p . R 168 X or p . T 158 M MECP 2 mutation , and the direction and degree of skewing of X-chromosome inactivation

T. Charman, A. Clarke, J. Christodoulou, 2007 .

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

T. Charman, A. Clarke, J. Christodoulou, 2006, Journal of Medical Genetics.

Genotype and early development in Rett syndrome: The value of international data

J. Christodoulou, H. Leonard, N. Klerk, 2005, Brain and Development.

p.R270X MECP2 mutation and mortality in Rett syndrome

J. Christodoulou, H. Leonard, D. Ravine, 2005, European Journal of Human Genetics.

Cyclin-dependent–like kinase 5 is required for pain signaling in human sensory neurons and mouse models

S. Di Giovanni, H. Leonard, T. Pizzorusso, 2020, Science Translational Medicine.

Cyclin-dependent-like kinase 5 is required for pain signalling in both human neurons and mouse models

S. Di Giovanni, V. Di Lazzaro, H. Leonard, 2019, bioRxiv.

Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study

A. Jablensky, H. Leonard, V. Morgan, 2008, British Journal of Psychiatry.

Optimal interpregnancy interval in autism spectrum disorder: A multi‐national study of a modifiable risk factor

Stefan N Hansen, A. Suominen, M. Gissler, 2021, Autism research : official journal of the International Society for Autism Research.

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

E. Marsh, H. Leonard, Jacinta M. Saldaris, 2022, European Journal of Human Genetics.

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

J. Christodoulou, H. Leonard, D. Ravine, 2005, Journal of Medical Genetics.

The epidemiology of mental retardation: challenges and opportunities in the new millennium.

H. Leonard, Helen Leonard, Xingyan Wen, 2002, Mental retardation and developmental disabilities research reviews.

Oral health and children with an intellectual disability: a focus group study of parent issues and perceptions

H. Leonard, L. Slack-Smith, M. Ree, 2010 .

Maltreatment Risk Among Children With Disabilities

F. Stanley, H. Leonard, Scott Sims, 2017, Pediatrics.

Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study

J. Semmens, H. Leonard, K. Spilsbury, 2018, BMJ Open.

Factors associated with dental hospitalisations in children with intellectual disability or autism spectrum disorder: a Western Australian population-based retrospective cohort study

H. Leonard, H. Calache, L. Slack-Smith, 2021, Disability and rehabilitation.

Survival of infants born with Down's syndrome: 1980-96.

H. Leonard, C. Bower, B. Petterson, 2000, Paediatric and perinatal epidemiology.

Application of Population-Based Linked Data to the Study of Intellectual Disability and Autism

K. Carter, R. Francis, H. Leonard, 2013 .

Maternal health in pregnancy and intellectual disability in the offspring: a population-based study.

H. Leonard, N. de Klerk, C. Bower, 2006, Annals of epidemiology.

Hospitalisations from birth to 5 years in a population cohort of Western Australian children with intellectual disability

F. Stanley, H. Leonard, L. Slack-Smith, 2005, Archives of Disease in Childhood.

Oral health care and service utilisation in individuals with Rett syndrome: an international cross-sectional study.

H. Leonard, L. Walsh, J. Downs, 2021, Journal of intellectual disability research : JIDR.

Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective.

M. Msall, H. Leonard, S. Fyfe, 2001, Disability and rehabilitation.

Factors associated with dental admissions for children aged under 5 years in Western Australia

H. Leonard, L. Slack-Smith, C. Bower, 2008, Archives of Disease in Childhood.

Intellectual disability in Western Australia

H. Leonard, C. Bower, B. Petterson, 2000, Journal of paediatrics and child health.

Medical aspects of school‐aged children with Down syndrome

H. Leonard, C. Bower, B. Petterson, 1999, Developmental medicine and child neurology.

To Feel Belonged: The Voices of Children and Youth with Disabilities on the Meaning of Wellbeing

G. Llewellyn, S. Girdler, H. Leonard, 2012 .

Functional status of school‐aged children with Down syndrome

M. Msall, H. Leonard, C. Bower, 2002, Journal of paediatrics and child health.

Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western Australia

H. Leonard, Kingsley Wong, J. Bourke, 2018, BMJ Open.

Dental admissions in children under two years--a total-population investigation.

H. Leonard, L. Slack-Smith, N. Kilpatrick, 2013, Child: care, health and development.

Hospitalisation rates for children with intellectual disability or autism born in Western Australia 1983–1999: a population-based cohort study

H. Leonard, N. de Klerk, A. Bebbington, 2013, BMJ Open.

Refining the phenotype of common mutations in Rett syndrome

J Christodoulou, H Leonard, J. Christodoulou, 2004, Journal of Medical Genetics.

Describing the phenotype in Rett syndrome using a population database

M. Msall, J. Christodoulou, H. Leonard, 2003, Archives of disease in childhood.

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

D. Cooper, M. Krawczak, A. Clarke, 2000, Human molecular genetics.

The impact of having a sibling with an intellectual disability: parental perspectives in two disorders.

H. Leonard, C. Bower, L. Robertson, 2008, Journal of intellectual disability research : JIDR.

Guidelines for reporting clinical features in cases with MECP2 mutations

Masaya Segawa, Yushiro Yamashita, Uta Francke, 2001, Brain and Development.

Is the girl with Rett syndrome normal at birth?

H. Leonard, C. Bower, 2008, Developmental medicine and child neurology.

Occurrence of Rett Syndrome in Boys

H. Leonard, C. Ellaway, R. Falk, 2001, Journal of child neurology.

Influence of the Environment on Participation in Social Roles for Young Adults with Down Syndrome

G. Llewellyn, B. Tonge, S. Girdler, 2014, PloS one.

Leisure participation for school-aged children with Down syndrome

Jenny Bourke, Sonya Girdler, S. Girdler, 2011, Disability and rehabilitation.

Young People with Intellectual Disability Transitioning to Adulthood: Do Behaviour Trajectories Differ in Those with and without Down Syndrome?

Jenny Bourke, Julian Trollor, Bruce J. Tonge, 2016, PloS one.

Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

S. Girdler, H. Leonard, P. Jacoby, 2014, BMC Psychiatry.

Parent‐reported health‐related quality of life of children with Down syndrome: a descriptive study

H. Leonard, S. Munteanu, N. Taylor, 2018, Developmental medicine and child neurology.

Determinants of quality of life in Rett syndrome: new findings on associations with genotype

H. Leonard, J. Downs, Kingsley Wong, 2020, Journal of Medical Genetics.

Medical aspects of school-aged children with Down syndrome.

H. Leonard, C. Bower, B. Petterson, 1999 .

Experiences Impacting the Quality of Life of Mothers of Children With Autism and Intellectual Disability

H. Leonard, C. Fisher, J. Fairthorne, 2014 .

Family functioning in families with a child with Down syndrome: a mixed methods approach.

L. Roberts, H. Leonard, J. Bourke, 2012, Journal of intellectual disability research : JIDR.

Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatment: a population-based study.

F. Stanley, H. Leonard, P. Jacoby, 2010, International journal of epidemiology.

Apgar score and risk of autism

M. Gissler, K. Carter, A. Reichenberg, 2018, European Journal of Epidemiology.

Rates and types of hospitalisations for children who have subsequent contact with the child protection system: a population based case-control study

F. Stanley, H. Leonard, P. Jacoby, 2009, Journal of Epidemiology & Community Health.

Very Early Identification and Intervention for Infants at Risk of Neurodevelopmental Disorders: A Transdiagnostic Approach

G. Alvares, H. Leonard, Kandice J. Varcin, 2019, Child Development Perspectives.

Functioning and post-school transition outcomes for young people with Down syndrome.

G. Llewellyn, N. Lennox, S. Girdler, 2013, Child: care, health and development.

Gastrostomy and quality of life in children with intellectual disability: a qualitative study

H. Leonard, P. Jacoby, J. Downs, 2020, Archives of Disease in Childhood.

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability

J. Trollor, H. Leonard, P. Jacoby, 2018, European Journal of Pediatrics.

Explorer CDKL 5 variants : improving our understanding of a rare neurological disorder

S. Cobb, A. Clarke, H. Leonard, 2022 .

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients

A. Bergin, H. Leonard, J. Downs, 2017, Epilepsia.

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

E. Pestana-Knight, O. Devinsky, L. Swanson, 2019, Pediatric neurology.

CDKL5 deficiency disorder: clinical features, diagnosis, and management

L. Swanson, H. Leonard, T. Benke, 2022, The Lancet Neurology.

The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder

H. Leonard, J. Downs, Kingsley Wong, 2021, Epilepsy & Behavior.

Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder

H. Leonard, J. Downs, Kingsley Wong, 2020, Epilepsy Research.

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder

H. Leonard, Keely Bebbington, J. Downs, 2018, Epilepsy Research.

CDKL5 variants

S. Cobb, A. Clarke, H. Leonard, 2017, Neurology: Genetics.

Expanding the clinical picture of the MECP2 Duplication syndrome

H. Leonard, C. Ellaway, Kingsley Wong, 2017, Clinical genetics.

There is variability in the attainment of developmental milestones in the CDKL5 disorder

J. Christodoulou, H. Leonard, G. Ho, 2015, Journal of Neurodevelopmental Disorders.

Severity Assessment in CDKL5 Deficiency Disorder.

E. Pestana-Knight, O. Devinsky, J. Cross, 2019, Pediatric neurology.

Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder

H. Leonard, J. Downs, Kingsley Wong, 2021, Epilepsia.

Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials

E. Marsh, H. Leonard, P. Jacoby, 2023, Epilepsy & Behavior.

Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder

O. Devinsky, E. Marsh, H. Leonard, 2021, Journal of child neurology.

Functioning, participation, and quality of life in children with intellectual disability: an observational study

Katrina Jane Williams, H. Leonard, D. Reddihough, 2020, Developmental medicine and child neurology.

A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder

H. Leonard, J. Downs, A. Epstein, 2019, American journal of medical genetics. Part A.

Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure

Katrina Jane Williams, H. Leonard, D. Reddihough, 2018, Quality of Life Research.

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability

H. Leonard, J. Heyworth, J. Downs, 2017, Journal of Autism and Developmental Disorders.

Predictors of seizure onset in Rett syndrome.

J. Christodoulou, H. Leonard, D. Ravine, 2006, The Journal of pediatrics.

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Robert L L Smith, S. Hardwick, J. Christodoulou, 2007, European Journal of Human Genetics.

A preliminary investigation of the effects of prenatal alcohol exposure on facial morphology in children with Autism Spectrum Disorder.

G. Alvares, H. Leonard, M. Symons, 2020, Alcohol.

Patterns of Depressive Symptoms and Social Relating Behaviors Differ Over Time From Other Behavioral Domains for Young People With Down Syndrome

B. Tonge, H. Leonard, P. Jacoby, 2015, Medicine.

Genetic and epigenetic influences on the phenotype of Rett syndrome

H. Leonard, J. LaSalle, J. Downs, 2019, Chromatin Signaling and Neurological Disorders.

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

M. Böhm, H. Leonard, M. Freilinger, 2014, Developmental medicine and child neurology.

A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

G. Baynam, H. Leonard, J. Downs, 2022, Orphanet Journal of Rare Diseases.

Early Determinants of Fractures in Rett Syndrome

H. Leonard, P. Jacoby, J. Downs, 2008, Pediatrics.

A population‐based approach to the investigation of osteopenia in Rett syndrome

J. Christodoulou, H. Leonard, C. Ellaway, 1999, Developmental medicine and child neurology.

Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence

Brian G. Smith, H. Leonard, J. Downs, 2009, Spine.

MECP2 recurrent mutation in exon 1 of Lost in translation: translational interference from a

J. Christodoulou, H. Leonard, P. Macleod, 2008 .

What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analyses.

B. Fernhall, J. D. de Haan, H. Leonard, 2018, Journal of science and medicine in sport.

Impact of Scoliosis Surgery on Activities of Daily Living in Females With Rett Syndrome

D. Young, H. Leonard, N. de Klerk, 2009, Journal of pediatric orthopedics.

Association of sociodemographic characteristics of children with intellectual disability in Western Australia.

S. Zubrick, H. Leonard, N. de Klerk, 2005, Social science & medicine.

Diagnosis of Rett syndrome: can a radiograph help?

J. Christodoulou, H. Leonard, E. Rousham, 1998, Developmental medicine and child neurology.

Determinants of sleep problems in children with intellectual disability

H. Leonard, P. Jacoby, P. Eastwood, 2021, Journal of sleep research.

Early development and regression in Rett syndrome

H. Leonard, J. Downs, Jyl Lee, 2013, Clinical genetics.

Survival of children and adolescents with intellectual disability following gastrostomy insertion.

J. Trollor, H. Leonard, P. Jacoby, 2020, Journal of intellectual disability research : JIDR.

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

H. Leonard, M. Aadahl, J. Downs, 2019, Disability and rehabilitation.

Hospital Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

H. Leonard, T. Pikora, J. Bourke, 2013, PloS one.

The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison

Stefan N Hansen, J. Buxbaum, M. Gissler, 2015, European Child & Adolescent Psychiatry.

Exploring quality of life of children with cerebral palsy and intellectual disability: What are the important domains of life?

Katrina Jane Williams, H. Leonard, D. Reddihough, 2017, Child: care, health and development.

Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome

Katrina Jane Williams, H. Leonard, D. Reddihough, 2017, Journal of developmental and behavioral pediatrics : JDBP.

The diagnosis of autism in a female: could it be Rett syndrome?

D. Young, W. Kaufmann, H. Leonard, 2008, European Journal of Pediatrics.

Trisomy 21 and Rett syndrome: A double burden

J. Christodoulou, H. Leonard, M. Delatycki, 2004, Journal of paediatrics and child health.

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

F. Hanefeld, A. Clarke, J. Christodoulou, 2003, Journal of medical genetics.

Rare disease: a national survey of paediatricians’ experiences and needs

Yvonne Zurynski, J. Christodoulou, Y. Zurynski, 2017, BMJ Paediatrics Open.

Hand Preference, Extent of Laterality, and Functional Hand Use in Rett Syndrome

J. Watson, H. Leonard, N. de Klerk, 2003, Journal of child neurology.

Intellectual disabilities and autism among children with congenital heart defects, Western Australia, 1983–2010

H. Leonard, W. Nembhard, C. Bower, 2023, BMC Pediatrics.

Twenty-five-year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010.

H. Leonard, W. Nembhard, C. Bower, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Changes in risk factors for preterm birth in Western Australia 1984–2006

F. Stanley, C. Pennell, H. Leonard, 2013, BJOG : an international journal of obstetrics and gynaecology.

Intellectual disability: population‐based estimates of the proportion attributable to maternal alcohol use disorder during pregnancy

H. Leonard, C. Bower, A. Bartu, 2013, Developmental medicine and child neurology.

Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis.

J. Christodoulou, H. Leonard, C. Ellaway, 1999, American journal of medical genetics.

Trends in pre‐existing mental health disorders among parents of infants born in Western Australia from 1990 to 2005

F. Stanley, Denise Anderson, H. Leonard, 2013, The Medical journal of Australia.

Risk of stillbirth, preterm delivery, and fetal growth restriction following exposure in a previous birth: systematic review and meta‐analysis

H. Leonard, G. Pereira, N. Nassar, 2018, BJOG : an international journal of obstetrics and gynaecology.

Role of public and private funding in the rising caesarean section rate: a cohort study

F. Stanley, H. Leonard, N. de Klerk, 2013, BMJ Open.

For peer review only Role of mothers' funding source and delivery hospital in the rising caesarean section rate: A cohort study

F. Stanley, H. Leonard, F. Pereira, 2013 .

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

T. Matsuishi, A. Clarke, J. Christodoulou, 2003, Journal of medical genetics.

A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening

J. Christodoulou, H. Leonard, C. Ellaway, 2001, Clinical dysmorphology.

Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study

H. Leonard, N. de Klerk, Keely Bebbington, 2019, Journal of Autism and Developmental Disorders.

The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future Research

H. Leonard, N. de Klerk, R. Mutch, 2017, Review Journal of Autism and Developmental Disorders.

Predictors of Scoliosis in Rett Syndrome

J. Christodoulou, H. Leonard, P. Jacoby, 2006, Journal of child neurology.

Physical and Mental Health of Mothers Caring for a Child With Rett Syndrome

S. Silburn, M. Msall, H. Leonard, 2006, Pediatrics.

skewing of X chromosome inactivation MECP2 mutation and the direction and degree of syndrome patients with a p.R168X or p.T158M Correlation between clinical severity in Rett

T. Charman, A. Clarke, H. Leonard, 2006 .

Health Service Use in Rett Syndrome

J. Christodoulou, H. Leonard, N. de Klerk, 2005, Journal of child neurology.

Siblings of children with disabilities: challenges and opportunities

H. Leonard, P. Dyke, Seonaid Mulroy, 2009, Acta paediatrica.

Community participation for girls and women living with Rett syndrome

S. Girdler, H. Leonard, J. Downs, 2014, Disability and rehabilitation.

Risk of Stillbirth, Preterm Delivery, and Fetal Growth Restriction Following Exposure in a Previous Birth: Systematic Review and Meta-analysis

H. Leonard, G. Pereira, N. Nassar, 2018, Obstetrical & Gynecological Survey.

Authors' reply: Changes in risk factors for preterm birth in Western Australia 1984–2006

F. Stanley, H. Leonard, P. Jacoby, 2013, BJOG : an international journal of obstetrics and gynaecology.

Type : Systematic review Title : Risk of stillbirth , preterm delivery and fetal growth restriction following exposure in previous birth : systematic review and meta-analysis Running title : The impact of previous adverse birth outcomes

H. Leonard, N. Nassar, C. Raynes-Greenow, 2017 .

Predicting Long-Term Survival Without Major Disability for Infants Born Preterm.

F. Stanley, H. Leonard, G. Pereira, 2019, The Journal of pediatrics.

Neonatal complications in public and private patients

D. Preen, F. Stanley, H. Leonard, 2018 .

Neonatal outcomes after preterm birth by mothers’ health insurance status at birth: a retrospective cohort study

F. Stanley, H. Leonard, K. Einarsdóttir, 2013, BMC Health Services Research.

Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study

G. Baynam, H. Leonard, H. Calache, 2022, Pediatric Research.

Development of a Video-based Evaluation Tool in Rett Syndrome

W. Kaufmann, M. Msall, H. Leonard, 2007, Journal of autism and developmental disorders.

The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort study.

L. Straker, H. Leonard, A. Finlay-Jones, 2020, Early human development.

Hospitalizations from Birth to 28 years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia.

G. Baynam, H. Leonard, H. Calache, 2023, The Journal of pediatrics.

Attributions of Stability , Control and Responsibility : How Parents of Children with Intellectual Disabilities View their Child ’ s Problematic Behaviour and Its Causes

H. Leonard, C. Ellaway, J. Downs, 2016 .

Pubertal trajectory in females with Rett syndrome: A population-based study

S. Girdler, H. Leonard, A. Siafarikas, 2013, Brain and Development.

InterRett and RettBASE: International Rett Syndrome Association Databases for Rett Syndrome

J. Christodoulou, H. Leonard, N. de Klerk, 2003, Journal of child neurology.

Parent-observed thematic data on quality of life in children with autism spectrum disorder

Katrina Jane Williams, H. Leonard, D. Reddihough, 2017, Autism : the international journal of research and practice.

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

H. Leonard, D. Amor, C. Ellaway, 2019, Journal of paediatrics and child health.

Perspectives on hand function in girls and women with Rett syndrome

H. Leonard, J. Downs, M. Lotan, 2014, Developmental neurorehabilitation.

Use of Equipment and Respite Services and Caregiver Health among Australian Families Living with Rett Syndrome.

S. Girdler, H. Leonard, P. Jacoby, 2011 .

Risk of Mortality into Adulthood According to Gestational Age at Birth

H. Leonard, G. Pereira, W. Nembhard, 2017, The Journal of pediatrics.

Birth seasonality and risk of autism spectrum disorder

Brian K. Lee, A. Sourander, A. Reichenberg, 2019, European Journal of Epidemiology.

“It’s not what you were expecting, but it’s still a beautiful journey”: the experience of mothers of children with Down syndrome

S. Girdler, H. Leonard, D. Pillay, 2012, Disability and rehabilitation.

A Comparison of Autism Prevalence Trends in Denmark and Western Australia

Jenny Bourke, Nicholas de Klerk, Carol Bower, 2011, Journal of autism and developmental disorders.

Spinal fusion in girls with Rett syndrome: post-operative recovery and family experiences.

H. Leonard, J. Downs, I. Torode, 2015, Child: care, health and development.

Modelling quality of life in children with intellectual disability using regression trees

Katrina Jane Williams, H. Leonard, D. Reddihough, 2022, Developmental medicine and child neurology.

The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life

G. Llewellyn, H. Leonard, P. Dyke, 2013, Journal of intellectual & developmental disability.

Population-Based Prevalence of Intellectual Disability and Autism Spectrum Disorders in Western Australia

H. Leonard, N. de Klerk, J. Bourke, 2016, Medicine.

Familial aggregation in Rett syndrome: what is the evidence for clustering of other disorders in families of affected girls?

H. Leonard, S. Fyfe, S. Leonard, 1999, American journal of medical genetics.

Family data in Rett syndrome: Association with other genetic disorders

J. Christodoulou, H. Leonard, A. Hockey, 2000, Journal of paediatrics and child health.

Association of birth outcomes and maternal, school, and neighborhood characteristics with subsequent numeracy achievement.

Eva Malacova, Eve Blair, F. Stanley, 2008, American journal of epidemiology.

Stillbirth risk prediction using machine learning for a large cohort of births from Western Australia, 1980–2015

Kevin E. K. Chai, A. Phatak, A. Gebremedhin, 2020, Scientific Reports.

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Michael R Stratton, N. Brown, I. Scheffer, 2009, Journal of Medical Genetics.

Respiratory morbidity in Rett syndrome: an observational study

H. Leonard, J. Downs, Kingsley Wong, 2018, Developmental medicine and child neurology.

Direct health care costs of children and adolescents with Down syndrome.

Aditya M. Deshpande, H. Leonard, C. Bower, 2011, The Journal of pediatrics.

Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring

H. Leonard, N. de Klerk, J. Fairthorne, 2016, Journal of autism and developmental disorders.

Health of mothers of children with intellectual disability or autism spectrum disorder: a review of the literature

H. Leonard, N. Klerk, J. Fairthorne, 2015 .

Unpacking the complex nature of the autism epidemic

H. Leonard, A. Whitehouse, N. Nassar, 2010 .

Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

W. Kaufmann, S. Girdler, H. Leonard, 2011, Journal of child neurology.

Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome

D. Hendrie, H. Leonard, C. Bower, 2011 .

Early Mortality and Primary Causes of Death in Mothers of Children with Intellectual Disability or Autism Spectrum Disorder: A Retrospective Cohort Study

H. Leonard, P. Jacoby, J. Fairthorne, 2014, PloS one.

Using genetic epidemiology to study Rett syndrome: the design of a case-control study.

H. Leonard, S. Fyfe, S. Leonard, 2000, Paediatric and perinatal epidemiology.

Oral health experiences of individuals with Rett syndrome: a retrospective study

H. Leonard, J. Downs, K. Wong, 2018, BMC oral health.

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

H. Leonard, C. Ellaway, J. Downs, 2016, Developmental medicine and child neurology.

Genotype and sleep independently predict mental health in Rett syndrome: an observational study

H. Leonard, J. Downs, Kingsley Wong, 2023, Journal of Medical Genetics.

Longitudinal Hand Function in Rett Syndrome

W. Kaufmann, H. Leonard, J. Downs, 2011, Journal of child neurology.

Relation between intrauterine growth and subsequent intellectual disability in a ten-year population cohort of children in Western Australia.

H. Leonard, N. de Klerk, N. Nassar, 2007, American journal of epidemiology.

Twenty years of surveillance in Rett syndrome: what does this tell us?

H. Leonard, P. Jacoby, J. Downs, 2014, Orphanet Journal of Rare Diseases.

Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study

G. Baynam, H. Leonard, H. Calache, 2023, European Journal of Pediatrics.

Validating the Rett Syndrome Gross Motor Scale

Jenny Downs, H. Leonard, P. Jacoby, 2016, PloS one.

Risk and protective factors for the health of primary care-givers of children with autism spectrum disorders or intellectual disability: a narrative review.

H. Leonard, J. Fairthorne, Yuka Mori, 2018 .

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

H. Leonard, N. de Klerk, J. Downs, 2018, Orphanet Journal of Rare Diseases.

Maternal Race–Ethnicity, Immigrant Status, Country of Birth, and the Odds of a Child With Autism

L. Schieve, H. Leonard, N. de Klerk, 2017, Child neurology open.

A qualitative investigation of recovery after femoral fracture in Rett syndrome

H. Leonard, J. Downs, K. Stannage, 2017, Child: care, health and development.

Are preterm birth and intra-uterine growth restriction more common in Western Australian children of immigrant backgrounds? A population based data linkage study

H. Leonard, N. de Klerk, R. Mutch, 2019, BMC Pregnancy and Childbirth.

A Population-Based Matched-Sibling Analysis Estimating the Associations Between First Interpregnancy Interval and Birth Outcomes

F. Stanley, H. Leonard, N. de Klerk, 2018, American journal of epidemiology.

Gross motor profile in rett syndrome as determined by video analysis.

W. Kaufmann, M. Msall, H. Leonard, 2008, Neuropediatrics.

Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

W. Kaufmann, M. Msall, H. Leonard, 2008 .

How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome

H. Leonard, J. Downs, Daniel Ta, 2023, Children.

Hospital admissions and gestational age at birth: 18 years of follow up in Western Australia.

H. Leonard, K. Einarsdóttir, R. Srinivasjois, 2014, Paediatric and perinatal epidemiology.

The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distress

Katrina Jane Williams, H. Leonard, D. Reddihough, 2021, Quality of Life Research.

Content validation of the Quality of Life Inventory-Disability.

Katrina Jane Williams, H. Leonard, D. Reddihough, 2019, Child: care, health and development.

Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure.

W. Kaufmann, L. Oberman, H. Leonard, 2023, American journal on intellectual and developmental disabilities.

Charting developmental trajectories from 12 to 36 months and associated early risk and protective factors

L. Straker, H. Leonard, A. Finlay-Jones, 2022, Australasian Journal of Early Childhood.

Medium-term open label trial of L-carnitine in Rett syndrome

J. Christodoulou, H. Leonard, C. Ellaway, 2001, Brain and Development.

Regan et al. Reply to "Sibling Comparison Design in Birth-Spacing Studies".

H. Leonard, N. de Klerk, G. Pereira, 2018, American Journal of Epidemiology.

Quantification of walking‐based physical activity and sedentary time in individuals with Rett syndrome

H. Leonard, K. Hill, J. Downs, 2017, Developmental medicine and child neurology.

How Can the Internet Help Parents of Children With Rare Neurologic Disorders?

Linda Slack-Smith, H. Leonard, L. Slack-Smith, 2004, Journal of child neurology.

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well‐Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population

J. Christodoulou, H. Leonard, P. Jacoby, 2018, The Journal of pediatrics.

The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child

H. Leonard, Michael P. Fisher, T. Benke, 2022, Journal of child neurology.

Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability

H. Leonard, N. de Klerk, J. Fairthorne, 2016, Journal of autism and developmental disorders.

Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability

H. Leonard, J. Fairthorne, N. de Klerk, 2015, Journal of Autism and Developmental Disorders.

Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome

H. Leonard, J. Downs, A. Epstein, 2019, Disability and rehabilitation.

A validation study of a modified Bouchard activity record that extends the concept of ‘uptime’ to Rett syndrome

H. Leonard, P. Jacoby, K. Hill, 2015, Developmental medicine and child neurology.

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

H. Leonard, J. Downs, Kingsley Wong, 2018, American journal of medical genetics. Part A.

Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

R. Skoss, H. Leonard, Kingsley Wong, 2023, Journal of Intellectual & Developmental Disability.

Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behaviour Questionnaire.

W. Kaufmann, L. Oberman, H. Leonard, 2020, Pediatric neurology.

The diagnostic odyssey to Rett syndrome: The experience of an Australian family

H. Leonard, J. Downs, M. Knott, 2012, American journal of medical genetics. Part A.

Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial

N. Buckley, H. Leonard, J. Downs, 2022, Developmental medicine and child neurology.

How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

H. Leonard, J. Downs, D. Forbes, 2016, Journal of paediatrics and child health.

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

W. Kaufmann, H. Leonard, P. Jacoby, 2010, Developmental medicine and child neurology.

Valproate and risk of fracture in Rett syndrome

H. Leonard, D. Ravine, P. Jacoby, 2010, Archives of Disease in Childhood.

Skeletal abnormalities in Rett syndrome: increasing evidence for dysmorphogenetic defects.

H. Leonard, J. Constantinou, C. Bower, 1995, American journal of medical genetics.

CDKL5 variants

S. Cobb, A. Clarke, H. Leonard, 2017, Neurology: Genetics.

Caesarean section and risk of autism across gestational age: a multi-national cohort study of 5 million births.

M. Gissler, C. Stoltenberg, R. Francis, 2016, International journal of epidemiology.

Functioning and post-school transition outcomes for young people with Down syndrome.

G. Llewellyn, N. Lennox, S. Girdler, 2013, Child: care, health and development.

Association of birth outcomes and maternal, school, and neighborhood characteristics with subsequent numeracy achievement.

F. Stanley, H. Leonard, Jianghong Li, 2008, American journal of epidemiology.

Reliability of the Quality of Life Inventory-Disability Measure in Children with Intellectual Disability.

Katrina Jane Williams, H. Leonard, D. Reddihough, 2020, Journal of developmental and behavioral pediatrics : JDBP.

Rare disease: a national survey of paediatricians’ experiences and needs

J. Christodoulou, Y. Zurynski, M. Deverell, 2017, BMJ Paediatrics Open.

Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder

E. Marsh, H. Leonard, P. Jacoby, 2023, Journal of autism and developmental disorders.

Family functioning in families with a child with Down syndrome: a mixed methods approach.

L. Roberts, H. Leonard, J. Bourke, 2012, Journal of intellectual disability research : JIDR.

Sleep problems in Rett syndrome

D. Young, H. Leonard, P. Jacoby, 2007, Brain and Development.