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  • Helen Leonard

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)

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)

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)

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

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)
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)

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)

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)
385 Downloads (Pure)
3 Citations (Scopus)

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)
135 Downloads (Pure)

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

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)

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)
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)

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

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)

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)

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)

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)

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)

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

Parental perspectives on the communication abilities of their daughters with Rett syndrome

Urbanowicz, A., Leonard, H., Girdler, S., Ciccone, N. & Downs, J., Jan 2016, In : Developmental Neurorehabilitation. 19, 1, p. 17-25 9 p.

Research output: Contribution to journalArticle

18 Citations (Scopus)

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)
226 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)

Population-based prevalence of intellectual disability and autism spectrum disorders in Western Australia

Bourke, J., De Klerk, N., Smith, T. & Leonard, H., May 2016, In : Medicine (United States). 95, 21, p. e3737

Research output: Contribution to journalArticle

Open Access
45 Citations (Scopus)

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 and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

Mangatt, M., Wong, K., Anderson, B., Epstein, A., Hodgetts, S., Leonard, H. & Downs, J., 2016, In : Orphanet Journal of Rare Diseases. 11, 1, p. 39 39 p.

Research output: Contribution to journalArticle

33 Citations (Scopus)

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