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  • Helen Leonard
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)
2017

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
30 Citations (Scopus)
310 Downloads (Pure)
2019

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)
2016

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

17 Citations (Scopus)
2019

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
3 Citations (Scopus)
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
27 Citations (Scopus)
2019

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
6 Citations (Scopus)
2017

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
2016

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)
2019

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

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

Giudice-Nairn, P., Downs, J., Wong, K., Wilson, D., Ta, D., Gattas, M., Amor, D., Thompson, E., Kirrali-Borri, C., Ellaway, C. & Leonard, H., 12 Feb 2019, In : Journal of Paediatrics and Child Health.

Research output: Contribution to journalArticle

2018

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)

Respiratory morbidity in Rett syndrome: an observational study

MacKay, J., Leonard, H., Wong, K., Wilson, A. & Downs, J., 1 Sep 2018, In : Developmental Medicine and Child Neurology. 60, 9, p. 951-957 7 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)
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)
2017

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of > 100 patients

Lim, Z., Wong, K., Olson, H. E., Bergin, A. M., Downs, J. & Leonard, H., Aug 2017, In : Epilepsia. 58, 8, p. 1415-1422 8 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)
2018

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)
2017

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

16 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)
2019
Open Access
2018
Open Access

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder

Lim, Z., Wong, K., Downs, J., Bebbington, K., Demarest, S. & Leonard, H., 1 Oct 2018, In : Epilepsy Research. 146, p. 36-40 5 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)
2019

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., 19 Nov 2019, (Accepted/In press) In : Disability and Health Journal. 100871.

Research output: Contribution to journalArticle

The Brain Basis of Comorbidity in Neurodevelopmental Disorders

Licari, M. K., Finlay-Jones, A., Reynolds, J. E., Alvares, G. A., Spittle, A. J., Downs, J., Whitehouse, A. J. O., Leonard, H., Evans, K. L. & Varcin, K., Mar 2019, In : Current Developmental Disorders Reports. 6, 1, p. 9-18 10 p.

Research output: Contribution to journalReview article

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)

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

Boban, S., Leonard, H., Wong, K., Wilson, A. & Downs, J., 1 Jul 2018, In : American Journal of Medical Genetics, Part A. 176, 7, p. 1569-1577 9 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)
2016

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
76 Citations (Scopus)
2019
1 Citation (Scopus)
2016

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study

Downs, J., Torode, I., Wong, K., Ellaway, C., Elliott, E. J., Izatt, M. T., Askin, G. N., Mcphee, B. I., Cundy, P., Leonard, H., Jacoby, P., Thomson, M. R., Bridge, C. & Christodoulou, J., 2016, In : Developmental Medicine and Child Neurology. 58, 6, p. 632-638

Research output: Contribution to journalArticle

11 Citations (Scopus)
2017

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)
346 Downloads (Pure)
2018

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
2016

Validating the rett syndrome gross motor scale

Downs, J., Stahlhut, M., Wong, K., Syhler, B., Bisgaard, A. M., Jacoby, P. & Leonard, H., 22 Jan 2016, In : PLoS One. 11, 1, p. 1-11 e0147555.

Research output: Contribution to journalArticle

Open Access
File
23 Citations (Scopus)
189 Downloads (Pure)
Open Access
File
37 Citations (Scopus)
259 Downloads (Pure)

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)

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)

Twenty-five–year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010

Nembhard, W. N., Bourke, J., Leonard, H., Eckersley, L., Li, J. & Bower, C., 1 Dec 2016, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 106, 12, p. 1016-1031 16 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2017

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)

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)

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)

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)
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)
2016
11 Citations (Scopus)

Transition to adulthood for young people with intellectual disability: the experiences of their families

Leonard, H., Foley, K. R., Pikora, T., Bourke, J., Wong, K., McPherson, L., Lennox, N. & Downs, J., 1 Dec 2016, In : European Child and Adolescent Psychiatry. 25, 12, p. 1369-1381 13 p.

Research output: Contribution to journalArticle

18 Citations (Scopus)
2018

Use of health services in the last year of life and cause of death in people with intellectual disability: A retrospective matched cohort study

Brameld, K., Spilsbury, K., Rosenwax, L., Leonard, H. & Semmens, J., 1 Feb 2018, In : BMJ Open. 8, 2, e020268.

Research output: Contribution to journalArticle

Open Access
4 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)
2017

Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome

Downs, J., Leonard, H., Wong, K., Newton, N. & Hill, K., 6 Jun 2017, In : Developmental Medicine and Child Neurology. 59, 6, p. 605-611

Research output: Contribution to journalArticle

14 Citations (Scopus)
2020

The prevalence and phenotypic signatures of mental ill health for children and adolescents with a neurogenetic disorder associated with intellectual disability: a systematic review

Glasson, E., Buckley, N., Chen, W., Leonard, H., Epstein, A., Skoss, R., Jacoby, P., Blackmore, A. M., Bourke, J. & Downs, J., 2020, (Accepted/In press) In : Journal of the American Academy of Child & Adolescent Psychiatry.

Research output: Contribution to journalReview article

2019

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)

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

2 Citations (Scopus)