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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 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

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)

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)
359 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)
498 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)
Open Access
File
41 Citations (Scopus)
302 Downloads (Pure)

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)

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
81 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)
11 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

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)
384 Downloads (Pure)

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
28 Citations (Scopus)
134 Downloads (Pure)

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

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)
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

Open Access
2 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

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)

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)

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)

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)

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

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)
1 Citation (Scopus)
Open Access
File
1 Citation (Scopus)
246 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)

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)
381 Downloads (Pure)
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)
333 Downloads (Pure)

Maternal psychiatric disorder and the risk of Autism Spectrum Disorder or intellectual disability in subsequent offspring

Fairthorne, J., Hammond, G., Bourke, J., De Klerk, N. & Leonard, H., 1 Feb 2016, In : Journal of Autism and Developmental Disorders. 46, 2, p. 523-533 12 p.

Research output: Contribution to journalArticle

6 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

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

2 Citations (Scopus)

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)