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  • Helen Leonard

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)

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)

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
7 Citations (Scopus)

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)
361 Downloads (Pure)
Open Access
Open Access

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

Oberman, L. M., Downs, J., Cianfaglione, R., Leonard, H. & Kaufmann, W. E., Oct 2020, In : Pediatric Neurology. 111, 1 p.

Research output: Contribution to journalLetter

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
9 Citations (Scopus)
505 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., 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 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

33 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)

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)

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)

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

8 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)

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)

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

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)
239 Downloads (Pure)
3 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

1 Citation (Scopus)

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

Open Access
12 Citations (Scopus)

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

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

1 Citation (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
15 Citations (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

Open Access
2 Citations (Scopus)
Open Access

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

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

22 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

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

12 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)

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

1 Citation (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)

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)

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

4 Citations (Scopus)
2 Citations (Scopus)

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)
335 Downloads (Pure)

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

4 Citations (Scopus)

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

Shields, N., Epstein, A., Jacoby, P., Kim, R., Leonard, H., Reddihough, D., Whitehouse, A., Murphy, N. & Downs, J., 17 Jun 2020, In : Disability and Rehabilitation.

Research output: Contribution to journalArticle

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

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
7 Citations (Scopus)
227 Downloads (Pure)

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

3 Citations (Scopus)

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

3 Citations (Scopus)

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

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., Apr 2020, In : Disability and Health Journal. 13, 2, 100871.

Research output: Contribution to journalArticle

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