Jennepher Downs

Dr

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

    6009 Perth

    Australia

  • 1187 Citations
  • 19 h-Index
20092021
If you made any changes in Pure these will be visible here soon.

Research Output 2009 2019

Filter
Article
4 Citations (Scopus)

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

Disabled Persons
Informed Consent
Intellectual Disability
Research
Proxy
1 Citation (Scopus)

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

Health Behavior
Learning
Delivery of Health Care
Health
Wheelchairs
28 Citations (Scopus)

Altered attainment of developmental milestones influences the age of diagnosis of Rett syndrome

Fehr, S., Bebbington, A., Ellaway, C., Rowe, P., Leonard, H. & Downs, J., 2011, In : Journal of Child Neurology. 26, 8, p. 980-987

Research output: Contribution to journalArticle

5 Citations (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

Rett Syndrome
Gestures
Aptitude
Communication
communication
2 Citations (Scopus)
265 Downloads (Pure)

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
Rett Syndrome
Femoral Fractures
Caregivers
Nuclear Family
Walking
Open Access
Information Storage and Retrieval
Premature Birth
Term Birth
Growth
Population
16 Citations (Scopus)
216 Downloads (Pure)

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

Urbanowicz, A., Downs, J., Girdler, S. J., Ciccone, N. A. & Leonard, H., 21 Jan 2015, In : American Journal of Medical Genetics, Part A. 167, 2, p. 354-362 9 p.

Research output: Contribution to journalArticle

Open Access
File
Methyl-CpG-Binding Protein 2
Rett Syndrome
Aptitude
Language
Mutation
29 Citations (Scopus)

Assessment and management of nutrition and growth in rett syndrome

Leonard, H., Ravikumara, M., Baikie, G., Naseem, N., Ellaway, C., Percy, A., Abraham, S., Geerts, S., Lane, J., Jones, M., Bathgate, K. & Downs, J., Oct 2013, In : Journal of Pediatric Gastroenterology and Nutrition. 57, 4, p. 451-460

Research output: Contribution to journalArticle

Open Access
Rett Syndrome
Nutrition Assessment
Growth
Anthropometry
Gastrostomy
21 Citations (Scopus)
10 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
Rett Syndrome
Internationality
Hyperventilation
Breath Holding
Caregivers
7 Citations (Scopus)

A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndrome

Lor, L., Hill, K., Jacoby, P., Leonard, H. & Downs, J., Dec 2015, In : Developmental Medicine and Child Neurology. 57, 12, p. 1137-1142

Research output: Contribution to journalArticle

Open Access
Rett Syndrome
Validation Studies
Walking
Proxy
Nonparametric Statistics
10 Citations (Scopus)
6 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

Rett Syndrome
Walking
Motor Skills
Aptitude
Reproducibility of Results
7 Citations (Scopus)

Caring for a child with severe intellectual disability in China: The example of Rett syndrome

Lim, F., Downs, J., Li, J., Bao, X-H. & Leonard, H., 2013, In : Disability and Rehabilitation. 35, p. 343-351

Research output: Contribution to journalArticle

27 Citations (Scopus)

Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period

Foley, K-R., Downs, J., Bebbington, A., Jacoby, P., Girdler, S., Kaufmann, W. E. & Leonard, H., 2011, In : Journal of Child Neurology. 26, 10, p. 1237-1245

Research output: Contribution to journalArticle

2 Citations (Scopus)
81 Downloads (Pure)

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
Rett Syndrome
Interpersonal Relations
Gestures
Language
Surgical Instruments
18 Citations (Scopus)
274 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 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
Rett Syndrome
Bone
bones
Health
Guidelines
7 Citations (Scopus)

Community participation for girls and women living with Rett syndrome

Andrews, J., Leonard, H., Hammond, G., Girdler, S., Rajapaksa, R., Bathgate, K. & Downs, J., Jun 2014, In : Disability and Rehabilitation. 36, 11, p. 894-899

Research output: Contribution to journalArticle

Rett Syndrome
Community Participation
Mothers
Education
Caregivers
2 Citations (Scopus)
Rett Syndrome
Inborn Genetic Diseases
Down Syndrome
Intellectual Disability
Brain Diseases
24 Citations (Scopus)
77 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
Rett Syndrome
Quality of Life
Nuclear Family
Social Mobility
Fathers

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

Disabled Children
Intellectual Disability
Quality of Life
Caregivers
Interviews

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

Developmental Disabilities
Information Storage and Retrieval
Intellectual Disability
disability
Disabled Persons
8 Citations (Scopus)

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

Rett Syndrome
Sleep
Genotype
Methyl-CpG-Binding Protein 2
Mutation
Mothers
Parturition
Intellectual Disability
Communication
Autism Spectrum Disorder
18 Citations (Scopus)

Early development and regression in Rett syndrome

Lee, J. Y. L., Leonard, H., Piek, J. P. & Downs, J., 2013, In : Clinical Genetics. online, 6, p. 572-576

Research output: Contribution to journalArticle

1 Citation (Scopus)

Effect of sitting posture on development of scoliosis in duchenne muscular dystrophy cases

Pokharel, R. K., Brisco, L., Mandal, M., Agrawal, J. P., Dillon, D., Vitale, M., Woodland, P., Jacoby, P. & Downs, J., 2014, In : Journal of Nepal Health Research Council. 12, 27, p. 94-99

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
Rett Syndrome
Brain-Derived Neurotrophic Factor
Motor Skills
Mutation
Aptitude
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

Gastrostomy
Intellectual Disability
Epidemiology
Social Class
Disabled Children
15 Citations (Scopus)

Evaluating the Extent of Clinical Uncertainty Among Treatment Options for Patients with Early-Onset Scoliosis

Corona, J., Miller, D. J., Downs, J., Akbarnia, B. A., Betz, R. R., Blakemore, L. C., Campbell Jr., R. M., Flynn, J. M., Johnston, C. E., Mccarthy, R. E., Roye Jr., D. P., Skaggs, D. L., Smith, J. T., Snyder, B. D., Sponseller, P. D., Sturm, P. F., Thompson, G. H., Yazici, M. & Vitale, M. G., 2013, In : JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME. 95-A, 10, p. 10pp

Research output: Contribution to journalArticle

2 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

Gastrostomy
Pediatrics
Population
Parturition
Intellectual Disability
15 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

Rett Syndrome
Phenotype
Gastrostomy
Information Storage and Retrieval
Natural History
14 Citations (Scopus)

Experience of gastrostomy using a quality care framework: The example of rett syndrome

Downs, J., Wong, K., Ravikumara, M., Ellaway, C., Elliott, E. J., Christodoulou, J., Jacoby, P. & Leonard, H., Dec 2014, In : Medicine (United States). 93, 28, p. e328

Research output: Contribution to journalArticle

Open Access
Rett Syndrome
Gastrostomy
Quality of Health Care
Mutation
Airway Obstruction
8 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

Cerebral Palsy
Intellectual Disability
Quality of Life
Communication
Interviews

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

Rett Syndrome
Parents
Exercise
Health Planning
Social Environment
6 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

Rett Syndrome
Spinal Fusion
Patient-Centered Care
Quality of Health Care
Disabled Children
15 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

Aptitude
Communication
Gestures
Proteins
Hand
26 Citations (Scopus)

Gastrointestinal dysmotility in Rett syndrome

Baikie, G., Ravikumara, M., Downs, J., Naseem, N., Wong, K., Percy, A., Lane, J., Weiss, B., Ellaway, C., Bathgate, K. & Leonard, H., Feb 2014, In : Journal of Pediatric Gastroenterology and Nutrition. 58, 2, p. 237-244 8 p.

Research output: Contribution to journalArticle

Open Access
42 Citations (Scopus)

Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence

Downs, J., Bergman, A., Palmer, G. M., Carter, P., Van Bosse, H., Anderson, A., Larsson, E. L., Smith, B. G., Baikie, G., Fyfe, S., Bebbington, A. & Leonard, H., 2009, In : Spine. 34, 17, p. E607-E617

Research output: Contribution to journalArticle

Rett Syndrome
Scoliosis
Consensus
Guidelines
Parents
1 Citation (Scopus)
Developmental Disabilities
Disabled Children
Mothers
Cerebral Palsy
Intellectual Disability
1 Citation (Scopus)
188 Downloads (Pure)
Open Access
File
Clinical Ethics
Rett Syndrome
Comorbidity
Scoliosis
Beneficence
3 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
Rare Diseases
Outcome Assessment (Health Care)
Registries
Research
Biomarkers
2 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

Rett Syndrome
Gastrostomy
Nutritional Status
Longitudinal Studies
Health
12 Citations (Scopus)

Impact of Scoliosis Surgery on Activities of Daily Living in Females With Rett Syndrome

Downs, J., Young, D., De Klerk, N., Bebbington, A., Baikie, G. & Leonard, H., 2009, In : Journal of Pediatric Orthopaedics. 29, 4, p. 369-374

Research output: Contribution to journalArticle

Rett Syndrome
Scoliosis
Activities of Daily Living
Wheelchairs
Interpersonal Relations
13 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
Quality of Life
Caregivers
Inborn Genetic Diseases
Sleep
Respite Care
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

Intellectual Disability
Disabled Persons
Accidental Falls
Incidence
Odds Ratio
2 Citations (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

Intellectual Disability
Disabled Persons
Incidence
Research Design
Cohort Studies
10 Citations (Scopus)
2 Citations (Scopus)
Open Access
Intellectual Disability
Observational Studies
Cohort Studies
Disabled Persons
Research Ethics Committees
30 Citations (Scopus)

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

Downs, J., Bebbington, A., Jacoby, P., Williams, A. M., Ghosh, S., Kaufmann, W. E. & Leonard, H., 2010, In : Developmental Medicine & Child Neurology. 52, 9, p. 817-823

Research output: Contribution to journalArticle

46 Citations (Scopus)

Linking MECP2 and pain sensitivity: the example of Rett syndrome

Downs, J., Geranton, S. M., Bebbington, A., Jacoby, P., Bahi-Buisson, N., Ravine, D. & Leonard, H., 2010, In : Am J Med Genet A. 152A, 5, p. 1197-1205

Research output: Contribution to journalArticle