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Author

  • Helen Leonard
2017

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
28 Citations (Scopus)
2016

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

Teoh, L., Geelhoed, E., Bayley, K., Leonard, H. & Laing, N., Jun 2016, In : Muscle and Nerve. 53, 6, p. 877-884

Research output: Contribution to journalArticle

5 Citations (Scopus)
2011

Bone mineral content and density in rett syndrome and their contributing factors

Jefferson, A. L., Woodhead, H. J., Fyfe, S., Briody, J., Bebbington, A., Strauss, B. J., Jacoby, P. & Leonard, H., 2011, In : Pediatric Research. 69, 4, p. 293-298

Research output: Contribution to journalArticle

26 Citations (Scopus)
2018

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

3 Citations (Scopus)
2012

It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndrome

Pillay, D., Girdler, S., Collins, M. & Leonard, H., 2012, In : Disability and Rehabilitation. 34, 18, p. 1501-1510

Research output: Contribution to journalArticle

26 Citations (Scopus)

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

Foley, K-R., Dyke, P., Girdler, S., Bourke, J. & Leonard, H., 2012, In : Disability and Rehabilitation. 34, 20, p. 1747-1764

Research output: Contribution to journalArticle

45 Citations (Scopus)
2016

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

Fairthorne, J., Jacoby, P., Bourke, J., De Klerk, N. & Leonard, H., 2016, In : Autism. 20, 1, p. 37-44

Research output: Contribution to journalArticle

7 Citations (Scopus)
2012

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

Slack-Smith, L., Colvin, L., Leonard, H., Kilpatrick, N., Read, A. & Messer, L. B., 2012, In : Child: Care, Health and Development. 39, 2, p. 253-259

Research output: Contribution to journalArticle

7 Citations (Scopus)
2015

Patterns of depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndrome

Foley, K. R., Bourke, J., Einfeld, S. L., Tonge, B. J., Jacoby, P. & Leonard, H., 2015, In : Medicine. 94, 19, p. e710

Research output: Contribution to journalArticle

Open Access
9 Citations (Scopus)
2012

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

Povee, K., Roberts, L., Bourke, J. & Leonard, H., 2012, In : Journal of Intellectual Disability Research. 56, 10, p. 961-973

Research output: Contribution to journalArticle

42 Citations (Scopus)
12 Downloads (Pure)
2011
6 Citations (Scopus)
2020

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

Malacova, E., Tippaya, S., Bailey, H. D., Chai, K., Farrant, B. M., Gebremedhin, A. T., Leonard, H., Marinovich, M. L., Nassar, N., Phatak, A., Raynes-Greenow, C., Regan, A. K., Shand, A. W., Shepherd, C. C. J., Srinivasjois, R., Tessema, G. A. & Pereira, G., 1 Dec 2020, In : Scientific Reports. 10, 1, 5354.

Research output: Contribution to journalArticle

Open Access
2019

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 others, Neul, 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

2 Citations (Scopus)

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

2015

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

Jefferson, A. L., Fyfe, S. D., Downs, J., Woodhead, H. J., Jacoby, P. & Leonard, H., May 2015, In : Bone. 74, p. 191-198

Research output: Contribution to journalArticle

7 Citations (Scopus)
2013

Improving health outcomes in Rett syndrome

Downs, J., Leonard, H., Croft, D., Ravikumara, M., Bathgate, K., Ellaway, C., Thompson, S., Percy, A. & Baikie, G., 2013, Nutritional and Digestive Health. Australia

Research output: Chapter in Book/Conference paperOther chapter contribution

Open Access
File
198 Downloads (Pure)
2012
10 Citations (Scopus)
2013

Early development and regression in Rett syndrome

Lee, J. Y. L., Leonard, H., Piek, J. P. & Downs, J., 2013, In : Clinical Genetics. online, 6, p. 572-576

Research output: Contribution to journalArticle

18 Citations (Scopus)
2019

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

3 Citations (Scopus)
2013

Using a large international sample to investigate epilepsy in Rett syndrome

Bao, X., Downs, J., Wong, K., Williams, S. & Leonard, H., 2013, In : Developmental Medicine and Child Neurology. 55, 6, p. 553-558

Research output: Contribution to journalArticle

Open Access
36 Citations (Scopus)
2017

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

Stahlhut, M., Downs, J., Aadahl, M., Leonard, H., Bisgaard, A. M. & Nordmark, E., 2 Oct 2017, In : Disability and Rehabilitation. p. 1-9 9 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)
2018

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
13 Citations (Scopus)
2015

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

Downs, J., Leonard, H., Jacoby, P., Brisco, L., Baikie, G. & Hill, K., 2015, In : Disability and Rehabilitation. Online, p. 1-5

Research output: Contribution to journalArticle

14 Citations (Scopus)

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

Marr, C., Leonard, H., Torode, I. & Downs, J., 26 Nov 2015, In : Child: Care, Health and Development. 41, 6, p. 1000-1009 10 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)
2020

Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability

Jacoby, P., Wong, K., Srasuebkul, P., Glasson, E. J., Forbes, D., Ravikumara, M., Wilson, A., Nagarajan, L., Bourke, J., Trollor, J., Leonard, H. & Downs, J., Feb 2020, In : Journal of Pediatrics. 217, p. 131-138.e10

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)
2014

Gastrointestinal dysmotility in Rett syndrome

Baikie, G., Ravikumara, M., Downs, J., Naseem, N., Wong, K., Percy, A., Lane, J., Weiss, B., Ellaway, C., Bathgate, K. & Leonard, H., Feb 2014, In : Journal of Pediatric Gastroenterology and Nutrition. 58, 2, p. 237-244 8 p.

Research output: Contribution to journalArticle

Open Access
27 Citations (Scopus)
2011

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

Urbanowicz, A., Downs, J., Bebbington, A., Jacoby, P., Girdler, S. & Leonard, H., 2011, In : Research in Autism Spectrum Disorders. 5, 2, p. 722-732

Research output: Contribution to journalArticle

13 Citations (Scopus)
2014

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

Anderson, A. M., Wong, K., Jacoby, P., Downs, J. & Leonard, H., 19 Jun 2014, In : Orphanet Journal of Rare Diseases. 9, 1, p. 9pp

Research output: Contribution to journalArticle

Open Access
44 Citations (Scopus)

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

Freilinger, M., Böhm, M., Lanator, I., Vergesslich-Rothschild, K., Huber, W-D., Anderson, A., Wong, K., Baikie, G., Ravikumara, M., Downs, J. & Leonard, H., Aug 2014, In : Developmental Medicine and Child Neurology. 56, 8, p. 756-762 7 p.

Research output: Contribution to journalArticle

File
9 Citations (Scopus)
313 Downloads (Pure)
2019

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

2018

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

Shields, N., Downs, J., de Haan, J. B., Taylor, N. F., Torr, J., Fernhall, B., Kingsley, M., Mnatzaganian, G. & Leonard, H., 1 Jun 2018, In : Journal of Science and Medicine in Sport. 21, 6, p. 596-603 8 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)
2011

Longitudinal hand function in Rett syndrome

Downs, J., Bebbington, A., Kaufmann, W. E. & Leonard, H., 2011, In : Journal of Child Neurology. 26, 3, p. 334-340

Research output: Contribution to journalArticle

8 Citations (Scopus)
2019

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

Mackay, J., McCallum, Z., Ambler, G. R., Vora, K., Nixon, G., Bergman, P., Shields, N., Milner, K., Kapur, N., Crock, P., Caudri, D., Curran, J., Verge, C., Seton, C., Tai, A., Tham, E., Musthaffa, Y., Lafferty, A. R., Blecher, G., Harper, J. & 6 others, Schofield, C., Nielsen, A., Wilson, A., Leonard, H., Choong, C. S. & Downs, J., 30 Jun 2019, In : Journal of Paediatrics and Child Health.

Research output: Contribution to journalReview article

Open Access
1 Citation (Scopus)
2013

Assessment and management of nutrition and growth in rett syndrome

Leonard, H., Ravikumara, M., Baikie, G., Naseem, N., Ellaway, C., Percy, A., Abraham, S., Geerts, S., Lane, J., Jones, M., Bathgate, K. & Downs, J., Oct 2013, In : Journal of Pediatric Gastroenterology and Nutrition. 57, 4, p. 451-460

Research output: Contribution to journalArticle

Open Access
29 Citations (Scopus)
2015

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

Lor, L., Hill, K., Jacoby, P., Leonard, H. & Downs, J., Dec 2015, In : Developmental Medicine and Child Neurology. 57, 12, p. 1137-1142

Research output: Contribution to journalArticle

Open Access
7 Citations (Scopus)
2016

An exploration of the use of eye gaze and gestures in females with Rett Syndrome

Urbanowicz, A., Downs, J. A., Girdler, S., Ciccone, N. & Leonard, H., 2016, In : Journal of Speech, Language, and Hearing Research. 59, 6, p. 1373-1383 11 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)
2020

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

Buckley, N., Glasson, E. J., Chen, W., Epstein, A., Leonard, H., Skoss, R., Jacoby, P., Blackmore, A. M., Srinivasjois, R., Bourke, J., Sanders, R. J. & Downs, J., 30 May 2020, In : Australian and New Zealand Journal of Psychiatry.

Research output: Contribution to journalReview article

2019

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 others, Reichenberg, A. & Sandin, S., 1 Jan 2019, In : JAMA Psychiatry. 76, 10, p. 1035-1043

Research output: Contribution to journalArticle

26 Citations (Scopus)
2013

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

Schendel, D. E., Bresnahan, M., Carter, K., Francis, R. W., Gissler, M., Grønborg, T. K., Gross, R., Gunnes, N., Hornig, M., Hultman, C. M., Langridge, A., Lauritsen, M. B., Leonard, H., Parner, E. T., Reichenberg, A., Sandin, S., Sourander, A., Stoltenberg, C., Suominen, A., Surén, P. & 1 others, Susser, E., 2013, In : Journal of Autism and Developmental Disorders. online, p. 2650-2663

Research output: Contribution to journalArticle

22 Citations (Scopus)

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

Einarsdottir, K., Haggar, F., Langridge, A., Gunnell, A. S., Leonard, H. & Stanley, F., 2013, In : BMC Health Services Research. 13, p. 7pp

Research output: Contribution to journalArticle

Open Access
File
5 Citations (Scopus)
209 Downloads (Pure)
Open Access
22 Citations (Scopus)
2015

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

Urbanowicz, A., Downs, J., Girdler, S. J., Ciccone, N. A. & Leonard, H., 21 Jan 2015, In : American Journal of Medical Genetics, Part A. 167, 2, p. 354-362 9 p.

Research output: Contribution to journalArticle

Open Access
File
16 Citations (Scopus)
248 Downloads (Pure)
2012
11 Citations (Scopus)
2019

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

1 Citation (Scopus)
2014

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

Walker, E. M., Crawford, F. & Leonard, H., 2014, In : Journal of Intellectual and Developmental Disability. 39, 3, p. 243-252

Research output: Contribution to journalArticle

6 Citations (Scopus)
2013

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

Hammond, G., Langridge, A., Leonard, H., Hagan, R., Jacoby, P., De Klerk, N., Pennell, C. & Stanley, F., Aug 2013, In : BJOG: an International Journal of Obstetrics and Gynaecology. 120, 9, p. 1051-1060

Research output: Contribution to journalArticle

Open Access
17 Citations (Scopus)
2016

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

Boban, S., Wong, K., Epstein, A., Anderson, B., Murphy, N., Downs, J. & Leonard, H., 2016, In : American Journal of Medical Genetics, Part A. 170, 9, p. 2292-2300 9 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without down syndrome?

Foley, K. R., Taffe, J., Bourke, J., Einfeld, S. L., Tonge, B. J., Trollor, J. & Leonard, H., 8 Jul 2016, In : PLoS One. 11, 7, p. 1-14

Research output: Contribution to journalArticle

Open Access
8 Citations (Scopus)