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  • Helen Leonard

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
32 Citations (Scopus)
322 Downloads (Pure)
1 Citation (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

3 Citations (Scopus)

Improved survival in Down Syndrome over the last 60 years and the impact of perinatal factors in recent decades

Glasson, E., Jacques, A., Wong, K., Bourke, J. & Leonard, H., Feb 2016, In : Journal of Pediatrics. 169, p. 214-220e1 8 p.

Research output: Contribution to journalArticle

Open Access
File
28 Citations (Scopus)
376 Downloads (Pure)

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
14 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

3 Citations (Scopus)
Open Access
File
1 Citation (Scopus)
239 Downloads (Pure)
1 Citation (Scopus)

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)

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

Glasson, E. J., Forbes, D., Ravikumara, M., Nagarajan, L., Wilson, A., Jacoby, P., Wong, K., Leonard, H. & Downs, J., 8 Apr 2020, In : Archives of Disease in Childhood.

Research output: Contribution to journalArticle

Functional abilities in children and adults with the CDKL5 disorder

Fehr, S., Downs, J., Ho, G., de Klerk, N., Forbes, D., Christodoulou, J., Williams, S. & Leonard, H., Nov 2016, In : American Journal of Medical Genetics, Part A. 170, 11, p. 2860-2869

Research output: Contribution to journalArticle

17 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
5 Citations (Scopus)

Family satisfaction following spinal fusion in Rett syndrome

Downs, J., Torode, I., Ellaway, C., Jacoby, P., Bunting, C., Wong, K., Christodoulou, J. & Leonard, H., Jan 2016, In : Developmental Neurorehabilitation. 19, 1, p. 31-37 7 p.

Research output: Contribution to journalArticle

6 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

11 Citations (Scopus)

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

MacKay, C. I., Bick, D., Prokop, J. W., Muñoz, I., Rouse, J., Downs, J. & Leonard, H., 1 May 2020, In : American Journal of Medical Genetics, Part A. 182, 5, p. 1217-1222 6 p.

Research output: Contribution to journalArticle

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

20 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

Open Access

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

2 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
14 Citations (Scopus)
1 Citation (Scopus)

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)

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

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

La Montanara, P., Hervera, A., Baltussen, L. L., Hutson, T. H., Palmisano, I., De Virgiliis, F., Kong, G., Chadwick, J., Gao, Y., Bartus, K., Majid, Q. A., Gorgoraptis, N., Wong, K., Downs, J., Pizzorusso, T., Ultanir, S. K., Leonard, H., Yu, H., Millar, D. S., Istvan, N. & 2 others, Mazarakis, N. D. & Di Giovanni, S., 8 Jul 2020, In : Science Translational Medicine. 12, 551

Research output: Contribution to journalArticle

Open Access

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

Olson, H. E., Demarest, S. T., Pestana-Knight, E. M., Swanson, L. C., Iqbal, S., Lal, D., Leonard, H., Cross, J. H., Devinsky, O. & Benke, T. A., 1 Aug 2019, In : Pediatric Neurology. 97, p. 18-25 8 p.

Research output: Contribution to journalReview article

12 Citations (Scopus)

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

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

Epstein, A., Leonard, H., Davis, E., Williams, K., Reddihough, D., Murphy, N., Whitehouse, A. & Downs, J., 17 Feb 2016, In : American Journal of Medical Genetics, Part A. 170, 3, p. 645-653 9 p.

Research output: Contribution to journalArticle

Open Access
File
27 Citations (Scopus)
131 Downloads (Pure)
2 Citations (Scopus)

Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence

Jefferson, A., Leonard, H., Siafarikas, A., Woodhead, H., Fyfe, S., Ward, L. M., Munns, C., Motil, K., Tarquinio, D., Shapiro, J. R., Brismar, T., Ben-Zeev, B., Bisgaard, A. M., Coppola, G., Ellaway, C., Freilinger, M., Geerts, S., Humphreys, P., Jones, M., Lane, J. & 10 others, Larsson, G., Lotan, M., Percy, A., Pineda, M., Skinner, S., Syhler, B., Thompson, S., Weiss, B., Engerström, I. W. & Downs, J., 5 Feb 2016, In : PLoS One. 11, 2, p. 1-18 19 p., e0146824.

Research output: Contribution to journalArticle

Open Access
File
21 Citations (Scopus)
381 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
3 Citations (Scopus)
234 Downloads (Pure)

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

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

Dale, T., Downs, J., Olson, H., Bergin, A. M., Smith, S. & Leonard, H., Mar 2019, In : Epilepsy Research. 151, p. 31-39 9 p.

Research output: Contribution to journalReview article

3 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

19 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

7 Citations (Scopus)
11 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
5 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
12 Citations (Scopus)

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

Sandin, S., Schendel, D., Magnusson, P., Hultman, C., Surén, P., Susser, E., GrØnborg, T., Gissler, M., Gunnes, N., Gross, R., Henning, M., Bresnahan, M., Sourander, A., Hornig, M., Carter, K., Francis, R., Parner, E., Leonard, H., Rosanoff, M., Stoltenberg, C. & 1 others, Reichenberg, A., 2016, In : Molecular Psychiatry. 21, 5, p. 693-700 8 p.

Research output: Contribution to journalArticle

Open Access
79 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
28 Citations (Scopus)
Open Access
File
40 Citations (Scopus)
281 Downloads (Pure)

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

28 Citations (Scopus)

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., Haberg, S. E., Ball, S., Malacova, E., Nassar, N., Leonard, H. & Pereira, G., 1 Sep 2019, In : Obstetrical and Gynecological Survey. 74, 9, p. 507-508 2 p.

Research output: Contribution to journalComment/debate

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
8 Citations (Scopus)
446 Downloads (Pure)
Open Access
Open Access

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
2 Citations (Scopus)
357 Downloads (Pure)

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
7 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)

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
3 Citations (Scopus)