Jennepher Downs

Dr

  • The University of Western Australia (M560), 35 Stirling Highway,

    6009 Perth

    Australia

  • 1225 Citations
  • 19 h-Index
20092021

Research output per year

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Research Output

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2019
Open Access

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

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

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

1 Citation (Scopus)

Facilitators and Barriers of Participation in “Uptime” Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals

Stahlhut, M., Esbensen, B. A., Larsen, J. L., Bisgaard, A. M., Downs, J. & Nordmark, E., 1 Mar 2019, In : Qualitative Health Research. 29, 4, p. 609-619 11 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
1 Citation (Scopus)

Incidence and associated risk factors for falls in adults with intellectual disability

Ho, P., Bulsara, M., Patman, S., Downs, J., Bulsara, C. & Hill, A. M., 1 Dec 2019, In : Journal of Intellectual Disability Research. 63, 12, p. 1441-1452 12 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review

Ho, P., Bulsara, M., Downs, J., Patman, S., Bulsara, C. & Hill, A. M., 1 Mar 2019, In : JBI Database of Systematic Reviews and Implementation Reports. 17, 3, p. 390-413 24 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)
1 Citation (Scopus)

Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?

Travlos, V., Downs, J., Wilson, A., Hince, D. & Patman, S., 1 Jan 2019, In : Neuromuscular Disorders. 29, 1, p. 48-58

Research output: Contribution to journalArticle

1 Citation (Scopus)

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

Vorster, N., Evans, K., Murphy, N., Kava, M., Cairns, A., Clarke, D., Ryan, M. M., Siafarikas, A., Rowe, P. W., Parkinson, S., Gaynor, O., Chiu, L., Anderson, J., Bayley, K., Jacoby, P., Cross, D. & Downs, J., 1 Mar 2019, In : Neuromuscular Disorders. 29, 3, p. 221-230 10 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure

Downs, J., Jacoby, P., Leonard, H., Epstein, A., Murphy, N., Davis, E., Reddihough, D., Whitehouse, A. & Williams, K., 15 Mar 2019, In : Quality of Life Research. 28, 3, p. 783-794 12 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Severity Assessment in CDKL5 Deficiency Disorder

Demarest, S., Pestana-Knight, E. M., Olson, H. E., Downs, J., Marsh, E. D., Kaufmann, W. E., Partridge, C. A., Leonard, H., Gwadry-Sridhar, F., Frame, K. E., Cross, J. H., Chin, R. F. M., Parikh, S., Panzer, A., Weisenberg, J., Utley, K., Jaksha, A., Amin, S., Khwaja, O., Devinsky, O. & 3 othersNeul, J. L., Percy, A. K. & Benke, T. A., 1 Aug 2019, In : Pediatric Neurology. 97, p. 38-42 5 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

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

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)
2018

Addressing challenges in gaining informed consent for a research study investigating falls in people with intellectual disability

Ho, P., Downs, J., Bulsara, C., Patman, S. & Hill, A. M., 1 Jun 2018, In : British Journal of Learning Disabilities. 46, 2, p. 92-100 9 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

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)
147 Downloads (Pure)
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
11 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

2 Citations (Scopus)

Impact of biobanks on research outcomes in rare diseases: a systematic review

Garcia, M., Downs, J., Russell, A. & Wang, W., 12 Nov 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
3 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

2 Citations (Scopus)
Open Access
2 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

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

1 Citation (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

4 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

1 Citation (Scopus)

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)
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)
331 Downloads (Pure)

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
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

7 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

16 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

8 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)

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)

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
6 Citations (Scopus)
211 Downloads (Pure)

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)

Qualitative analysis of parental observations on quality of life in Australian children with Down syndrome

Murphy, N., Epstein, A., Leonard, H., Davis, E., Reddihough, D., Whitehouse, A., Jacoby, P., Bourke, J., Williams, K. & Downs, J., Feb 2017, In : Journal of Developmental and Behavioral Pediatrics. 38, 2, p. 161-168 8 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)

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)

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

14 Citations (Scopus)
2016

A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular Disorders

Travlos, V., Bulsara, C., Patman, S. & Downs, J. A., 2016, In : NeuroRehabilitation. 39, 4, p. 519-534 16 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

5 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 othersLarsson, 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
19 Citations (Scopus)
349 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
25 Citations (Scopus)
100 Downloads (Pure)

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

8 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)

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

16 Citations (Scopus)
Open Access
File
1 Citation (Scopus)
213 Downloads (Pure)