• The University of Western Australia (M560), 35 Stirling Highway,

    6009 Perth

    Australia

  • 5744 Citations
  • 38 h-Index
20032023
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Research Output 2003 2020

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Article
2019
1 Citation (Scopus)

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

Tangarorang, J., Leonard, H., Epstein, A. & Downs, J., Feb 2019, In : American Journal of Medical Genetics Part A. 179, 2, p. 249-256 8 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Apgar score and risk of autism

Modabbernia, A., Sandin, S., Gross, R., Leonard, H., Gissler, M., Parner, E. T., Francis, R., Carter, K., Bresnahan, M., Schendel, D., Hornig, M. & Reichenberg, A., Feb 2019, In : European Journal of Epidemiology. 34, 2, p. 105-114 10 p.

Research output: Contribution to journalArticle

Open Access
4 Citations (Scopus)

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

Regan, A. K., Ball, S. J., Warren, J. L., Malacova, E., Padula, A., Marston, C., Nassar, N., Stanley, F., Leonard, H., de Klerk, N. & Pereira, G., Jan 2019, In : American Journal of Epidemiology. 188, 1, p. 9-16 8 p.

Research output: Contribution to journalArticle

Open Access
Open Access
Information Storage and Retrieval
Premature Birth
Term Birth
Growth
Population
Open Access
Intellectual Disability
Population
Cerebral Palsy
Centers for Disease Control and Prevention (U.S.)
Systems Analysis
5 Citations (Scopus)
163 Downloads (Pure)

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

Regan, A. K., Gissler, M., Magnus, M. C., Håberg, S. E., Ball, S., Malacova, E., Nassar, N., Leonard, H. & Pereira, G., 13 Apr 2019, In : The Lancet. 393, 10180, p. 1527-1535 9 p.

Research output: Contribution to journalArticle

Open Access
File
Birth Intervals
Stillbirth
Cohort Studies
Pregnancy
Parturition
7 Citations (Scopus)

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

Bai, D., Yip, B. H. K., Windham, G. C., Sourander, A., Francis, R., Yoffe, R., Glasson, E., Mahjani, B., Suominen, A., Leonard, H., Gissler, M., Buxbaum, J. D., Wong, K., Schendel, D., Kodesh, A., Breshnahan, M., Levine, S. Z., Parner, E. T., Hansen, S. N., Hultman, C. & 2 othersReichenberg, A. & Sandin, S., 1 Jan 2019, In : JAMA Psychiatry. 76, 10, p. 1035-1043

Research output: Contribution to journalArticle

Autistic Disorder
Israel
Finland
Autism Spectrum Disorder
Population
2 Citations (Scopus)

Birth seasonality and risk of autism spectrum disorder

Lee, B. K., Gross, R., Francis, R. W., Karlsson, H., Schendel, D. E., Sourander, A., Reichenberg, A., Parner, E. T., Hornig, M., Yaniv, A., Leonard, H. & Sandin, S., 15 Aug 2019, In : European Journal of Epidemiology. 34, 8, p. 785-792 8 p.

Research output: Contribution to journalArticle

Open Access
Parturition
Finland
Sweden
Western Australia
Autism Spectrum Disorder

Content validation of the Quality of Life Inventory—Disability

Epstein, A., Williams, K., Reddihough, D., Murphy, N., Leonard, H., Whitehouse, A., Jacoby, P. & Downs, J., 1 Jan 2019, In : Child: Care, Health and Development. 45, 5, p. 654-659 6 p.

Research output: Contribution to journalArticle

Disabled Children
Intellectual Disability
Quality of Life
Caregivers
Interviews

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

Balogh, R., Leonard, H., Bourke, J., Brameld, K., Downs, J., Hansen, M., Glasson, E., Lin, E., Lloyd, M., Lunsky, Y., O'Donnell, M., Shooshtari, S., Wong, K. & Krahn, G., 1 Oct 2019, In : Intellectual and developmental disabilities. 57, 5, p. 439-462 24 p.

Research output: Contribution to journalArticle

Developmental Disabilities
Information Storage and Retrieval
Intellectual Disability
disability
Disabled Persons
Mothers
Parturition
Intellectual Disability
Communication
Autism Spectrum Disorder
1 Citation (Scopus)

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability

Wong, K., Leonard, H., Pearson, G., Glasson, E. J., Forbes, D., Ravikumara, M., Jacoby, P., Bourke, J., Srasuebkul, P., Trollor, J., Wilson, A., Nagarajan, L. & Downs, J., Mar 2019, In : European Journal of Pediatrics. 178, 3, p. 351-361 11 p.

Research output: Contribution to journalArticle

Gastrostomy
Intellectual Disability
Epidemiology
Social Class
Disabled Children
1 Citation (Scopus)
Developmental Disabilities
Disabled Children
Mothers
Cerebral Palsy
Intellectual Disability
1 Citation (Scopus)
Rett Syndrome
Nervous System Diseases
Sleep
Parents
Single Parent

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

Bourke, J., Wong, K., Srinivasjois, R., Pereira, G., Shepherd, C. C. J., White, S. W., Stanley, F. & Leonard, H., Dec 2019, In : The Journal of Pediatrics. 215, p. 90-97.e1

Research output: Contribution to journalArticle

Premature Infants
Gestational Age
Apgar Score
Parturition
Western Australia

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

Fairthorne, J., Bourke, J., O'Donnell, M., Wong, K., de Klerk, N., Llewellyn, G. & Leonard, H., 19 Nov 2019, (Accepted/In press) In : Disability and Health Journal. 100871.

Research output: Contribution to journalArticle

Pregnancy Outcome
Intellectual Disability
Mothers
Parturition
Pregnancy Complications
3 Citations (Scopus)

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

Downs, J., Jacoby, P., Leonard, H., Epstein, A., Murphy, N., Davis, E., Reddihough, D., Whitehouse, A. & Williams, K., 15 Mar 2019, In : Quality of Life Research. 28, 3, p. 783-794 12 p.

Research output: Contribution to journalArticle

Psychometrics
Quality of Life
Intellectual Disability
Equipment and Supplies
Leisure Activities
2 Citations (Scopus)

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

Abdullahi, I., Wong, K., Mutch, R., Glasson, E. J., de Klerk, N., Cherian, S., Downs, J. & Leonard, H., Jan 2019, In : The Journal of Pediatrics. 204, p. 275-284.e3

Research output: Contribution to journalArticle

Information Storage and Retrieval
Intellectual Disability
Mothers
Cerebral Palsy
Population
1 Citation (Scopus)

Severity Assessment in CDKL5 Deficiency Disorder

Demarest, S., Pestana-Knight, E. M., Olson, H. E., Downs, J., Marsh, E. D., Kaufmann, W. E., Partridge, C. A., Leonard, H., Gwadry-Sridhar, F., Frame, K. E., Cross, J. H., Chin, R. F. M., Parikh, S., Panzer, A., Weisenberg, J., Utley, K., Jaksha, A., Amin, S., Khwaja, O., Devinsky, O. & 3 othersNeul, J. L., Percy, A. K. & Benke, T. A., 1 Aug 2019, In : Pediatric Neurology. 97, p. 38-42 5 p.

Research output: Contribution to journalArticle

Epilepsy
Natural History
Consensus
Cyclin-Dependent Kinase 5
Clinical Trials

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

Giudice-Nairn, P., Downs, J., Wong, K., Wilson, D., Ta, D., Gattas, M., Amor, D., Thompson, E., Kirrali-Borri, C., Ellaway, C. & Leonard, H., 12 Feb 2019, In : Journal of Paediatrics and Child Health.

Research output: Contribution to journalArticle

Incidence
Parturition
Cardiovascular Abnormalities
Rett Syndrome
Phenotype
Rett Syndrome
Quality of Life
Health
Caregivers
Social Welfare
1 Citation (Scopus)

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

Finlay-Jones, A., Varcin, K., Leonard, H., Bosco, A., Alvares, G. & Downs, J., 4 Jun 2019, In : Child Development Perspectives. 13, 2, p. 97-103 7 p.

Research output: Contribution to journalArticle

infant
Behavioral Symptoms
Systems Biology
Attention Deficit Disorder with Hyperactivity
Neurosciences
2018
2 Citations (Scopus)

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

Haddad, F., Bourke, J., Wong, K. & Leonard, H., 1 Jun 2018, In : PLoS One. 13, 6, 0197394.

Research output: Contribution to journalArticle

Open Access
Down syndrome
Down Syndrome
young adults
quality of life
Young Adult
2 Citations (Scopus)
59 Downloads (Pure)

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

Urbanowicz, A., Ciccone, N., Girdler, S., Leonard, H. & Downs, J., 27 Mar 2018, In : Disability and Rehabilitation. 40, 7, p. 813-819 7 p.

Research output: Contribution to journalArticle

Open Access
File
Rett Syndrome
Interpersonal Relations
Gestures
Language
Surgical Instruments
2 Citations (Scopus)
Rett Syndrome
Inborn Genetic Diseases
Down Syndrome
Intellectual Disability
Brain Diseases
10 Citations (Scopus)

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

Downs, J., Rodger, J., Li, C., Tan, X., Hu, N., Wong, K., De Klerk, N. & Leonard, H., 10 Jan 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 3.

Research output: Contribution to journalArticle

Open Access
Rett Syndrome
Brain-Derived Neurotrophic Factor
Motor Skills
Mutation
Aptitude
2 Citations (Scopus)

Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

Glasson, E. J., Wong, K., Leonard, H., Forbes, D., Ravikumara, M., Mews, C., Jacoby, P., Bourke, J., Trollor, J., Srasuebkul, P., Wilson, A., Nagarajan, L. & Downs, J., 1 Nov 2018, In : Journal of Pediatric Gastroenterology and Nutrition. 67, 5, p. e89-e94

Research output: Contribution to journalArticle

Gastrostomy
Pediatrics
Population
Parturition
Intellectual Disability
2 Citations (Scopus)

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

Wong, K., Downs, J., Ellaway, C., Baikie, G., Ravikumara, M., Jacoby, P., Christodoulou, J., Elliott, E. J. & Leonard, H., 1 Sep 2018, In : Journal of Pediatrics. 200, p. 188-195.e1

Research output: Contribution to journalArticle

Rett Syndrome
Gastrostomy
Nutritional Status
Longitudinal Studies
Health
2 Citations (Scopus)

Intellectual disability in children conceived using assisted reproductive technology

Hansen, M., Greenop, K. R., Bourke, J., Baynam, G., Hart, R. J. & Leonard, H., 1 Dec 2018, In : Pediatrics. 142, 6, e20181269.

Research output: Contribution to journalArticle

Assisted Reproductive Techniques
Intellectual Disability
Reproductive Techniques
Intracytoplasmic Sperm Injections
Western Australia

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

Lai, Y. Y. L., Wong, K., King, N. M., Downs, J. & Leonard, H., 29 Nov 2018, In : BMC Oral Health. 18, 1, 195.

Research output: Contribution to journalArticle

Open Access
Rett Syndrome
Oral Health
Retrospective Studies
Bruxism
Incidence
1 Citation (Scopus)

Parent-reported health-related quality of life of children with Down syndrome: A descriptive study

Shields, N., Leonard, H., Munteanu, S., Bourke, J., Lim, P., Taylor, N. F. & Downs, J., Apr 2018, In : Developmental Medicine and Child Neurology. 60, 4, p. 402-408

Research output: Contribution to journalArticle

Down Syndrome
Quality of Life
Proxy
Social Support
Psychology
1 Citation (Scopus)

Respiratory morbidity in Rett syndrome: an observational study

MacKay, J., Leonard, H., Wong, K., Wilson, A. & Downs, J., 1 Sep 2018, In : Developmental Medicine and Child Neurology. 60, 9, p. 951-957 7 p.

Research output: Contribution to journalArticle

Rett Syndrome
Observational Studies
Respiratory Tract Infections
Walking
Morbidity
17 Citations (Scopus)

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

Malacova, E., Regan, A., Nassar, N., Raynes-Greenow, C., Leonard, H., Srinivasjois, R., W Shand, A., Lavin, T. & Pereira, G., 1 Jan 2018, In : BJOG: an International Journal of Obstetrics and Gynaecology. 125, 2, p. 183-192 10 p.

Research output: Contribution to journalArticle

Stillbirth
Fetal Development
Gestational Age
Meta-Analysis
Premature Birth
1 Citation (Scopus)

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

Boban, S., Leonard, H., Wong, K., Wilson, A. & Downs, J., 1 Jul 2018, In : American Journal of Medical Genetics, Part A. 176, 7, p. 1569-1577 9 p.

Research output: Contribution to journalArticle

Rett Syndrome
Sleep
Sleep Initiation and Maintenance Disorders
Mutation
Linear Models
3 Citations (Scopus)

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

Brameld, K., Spilsbury, K., Rosenwax, L., Leonard, H. & Semmens, J., 1 Feb 2018, In : BMJ Open. 8, 2, e020268.

Research output: Contribution to journalArticle

Open Access
Disabled Persons
Intellectual Disability
Health Services
Cause of Death
Cohort Studies
4 Citations (Scopus)

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

Lim, Z., Wong, K., Downs, J., Bebbington, K., Demarest, S. & Leonard, H., 1 Oct 2018, In : Epilepsy Research. 146, p. 36-40 5 p.

Research output: Contribution to journalArticle

Vagus Nerve Stimulation
Epilepsy
Seizures
Therapeutics
Brain Diseases
4 Citations (Scopus)
Open Access
Western Australia
Hospital Records
Intellectual Disability
Databases
Morbidity
2017
2 Citations (Scopus)
238 Downloads (Pure)

A qualitative investigation of recovery after femoral fracture in Rett syndrome

Horne, T., Leonard, H., Stannage, K. & Downs, J., 1 Mar 2017, In : Child: Care, Health and Development. 43, 2, p. 232-239 8 p.

Research output: Contribution to journalArticle

Open Access
File
Rett Syndrome
Femoral Fractures
Caregivers
Nuclear Family
Walking
20 Citations (Scopus)

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

Zurynski, Y., Deverell, M., Dalkeith, T., Johnson, S., Christodoulou, J., Leonard, H. & Elliott, E. J., 11 Apr 2017, In : Orphanet Journal of Rare Diseases. 12, 1, 9 p., 68.

Research output: Contribution to journalArticle

Open Access
Rare Diseases
Delayed Diagnosis
Parents
Genetic Counseling
Health
10 Citations (Scopus)

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

MacKay, J., Downs, J., Wong, K., Heyworth, J., Epstein, A. & Leonard, H., 28 Apr 2017, In : Journal of Neurodevelopmental Disorders. 9, 1, 13 p., 15.

Research output: Contribution to journalArticle

Open Access
Rett Syndrome
Internationality
Hyperventilation
Breath Holding
Caregivers
6 Citations (Scopus)

Building the repertoire of measures of walking in Rett syndrome

Stahlhut, M., Downs, J., Leonard, H., Bisgaard, A. M. & Nordmark, E., 11 Sep 2017, In : Disability and Rehabilitation. 39, 19, p. 1926-1931 6 p.

Research output: Contribution to journalArticle

Rett Syndrome
Walking
Motor Skills
Aptitude
Reproducibility of Results
14 Citations (Scopus)

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

Yip, B. H. K., Leonard, H., Stock, S., Stoltenberg, C., Francis, R. W., Gissler, M., Gross, R., Schendel, D. & Sandin, S., Apr 2017, In : International Journal of Epidemiology. 46, 2, p. 429-439 11 p.

Research output: Contribution to journalArticle

CDK variants variant: Improving our understanding of a rare neurologic disorder

Hector, R. D., Kalscheuer, V. M., Hennig, F., Leonard, H., Downs, J., Clarke, A., Benke, T. A., Armstrong, J., Pineda, M., Bailey, M. E. S. & Cobb, S. R., Dec 2017, In : Neurology: Genetics. 3, 6, 10 p., 200.

Research output: Contribution to journalArticle

Open Access
15 Citations (Scopus)

Expanding the clinical picture of the MECP2 Duplication syndrome

Lim, Z., Downs, J., Wong, K., Ellaway, C. & Leonard, H., 1 Apr 2017, In : Clinical Genetics. 91, 4, p. 557-563 7 p.

Research output: Contribution to journalArticle

Rett Syndrome
Phenotype
Gastrostomy
Information Storage and Retrieval
Natural History
8 Citations (Scopus)

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

Davis, E., Reddihough, D., Murphy, N., Epstein, A., Reid, S. M., Whitehouse, A., Williams, K., Leonard, H. & Downs, J., 1 Nov 2017, In : Child: Care, Health and Development. 43, 6, p. 854-860 7 p.

Research output: Contribution to journalArticle

Cerebral Palsy
Intellectual Disability
Quality of Life
Communication
Interviews
4 Citations (Scopus)

Feasibility of assessing diet with a mobile food record for adolescents and young adults with Down syndrome

Bathgate, K. E., Sherriff, J. L., Leonard, H., Dhaliwal, S. S., Delp, E. J., Boushey, C. J. & Kerr, D. A., 13 Mar 2017, In : Nutrients. 9, 3, 273.

Research output: Contribution to journalArticle

Open Access
Down syndrome
food records
Down Syndrome
young adults
Fiducial Markers
13 Citations (Scopus)

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

Mori, Y., Downs, J., Wong, K., Anderson, B., Epstein, A. & Leonard, H., 19 Jan 2017, In : Orphanet Journal of Rare Diseases. 12, 1, 16.

Research output: Contribution to journalArticle

Open Access
Quality of Life
Caregivers
Inborn Genetic Diseases
Sleep
Respite Care
24 Citations (Scopus)
247 Downloads (Pure)

Maltreatment risk among children with disabilities

Maclean, M. J., Sims, S., Bower, C., Leonard, H., Stanley, F. J. & O'Donnell, M., 1 Apr 2017, In : Pediatrics. 139, 4, e20161817.

Research output: Contribution to journalArticle

Open Access
File
Disabled Children
Conduct Disorder
Western Australia
Child Abuse
Parenting
3 Citations (Scopus)

Measurement of sedentary behaviors or "downtime" in Rett Syndrome

Stahlhut, M., Hill, K., Bisgaard, A. M., Jensen, A. K., Andersen, M., Leonard, H. & Downs, J., 1 Oct 2017, In : Journal of Child Neurology. 32, 12, p. 1009-1013 5 p.

Research output: Contribution to journalArticle

Rett Syndrome
Observation
Caregivers
Linear Models
5 Citations (Scopus)
185 Downloads (Pure)

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

Epstein, A., Whitehouse, A., Williams, K., Murphy, N., Leonard, H., Davis, E., Reddihough, D. & Downs, J., 26 Oct 2017, In : Autism.

Research output: Contribution to journalArticle

Open Access
File
Quality of Life
Fathers
Intellectual Disability
Population
Parents