Jennepher Downs

Dr

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

    6009 Perth

    Australia

  • 1187 Citations
  • 19 h-Index
20092021
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Research Output 2009 2019

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Article
2009
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
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
8 Citations (Scopus)

Parental experiences of scoliosis management in Rett syndrome

Ager, S., Fyfe, S., Downs, J. & Leonard, H., 2009, In : Disability and Rehabilitation. 31, 23, p. 1917-1924

Research output: Contribution to journalArticle

Rett Syndrome
Scoliosis
Orthopedics
Decision Making
Quality of Life
2010
21 Citations (Scopus)
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

38 Citations (Scopus)

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

Carter, P., Downs, J., Bebbington, A., Williams, S., Jacoby, P., Kaufmann, W. E. & Leonard, H., 2010, In : Movement Disorders. 25, 3, p. 282-288

Research output: Contribution to journalArticle

22 Citations (Scopus)

Valproate and risk of fracture in Rett Syndrome

Leonard, H., Downs, J., Jian, L., Bebbington, A., Jacoby, P., Nagarajan, L., Ravine, D. & Woodhead, H., 2010, In : Archives of Disease in Childhood. 95, 6, p. 444-448

Research output: Contribution to journalArticle

2011
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

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

8 Citations (Scopus)

Longitudinal hand function in Rett syndrome

Downs, J., Bebbington, A., Kaufmann, W. E. & Leonard, H., 2011, In : Journal of Child Neurology. 26, 3, p. 334-340

Research output: Contribution to journalArticle

13 Citations (Scopus)

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

Urbanowicz, A., Downs, J., Bebbington, A., Jacoby, P., Girdler, S. & Leonard, H., 2011, In : Research in Autism Spectrum Disorders. 5, 2, p. 722-732

Research output: Contribution to journalArticle

2012
10 Citations (Scopus)
10 Citations (Scopus)
19 Citations (Scopus)

The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

Lotan, M., Schenker, R., Wine, J. & Downs, J., 2012, In : Developmental Neurorehabilitation. 15, 1, p. 19-25

Research output: Contribution to journalArticle

10 Citations (Scopus)

The diagnostic odyssey to Rett syndrome: The experience of an Australian family

Knott, M. S., Leonard, H. & Downs, J., 2012, In : American Journal of Medical Genetics Part A. 158 A, 1, p. 10-12

Research output: Contribution to journalArticle

19 Citations (Scopus)

The phenotype associated with a large deletion on MECP2

Bebbington, A., Downs, J., Percy, A., Pineda, M., Zeev, B. B., Bahi-Buisson, N. & Leonard, H., 2012, In : European Journal of Human Genetics. 20, 9, p. 921-927

Research output: Contribution to journalArticle

2013
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
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

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

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

106 Citations (Scopus)

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

Fehr, S., Wilson, M., Downs, J., Williams, S., Murgia, A., Sartori, S., Vecchi, M., Ho, G., Polli, R., Psoni, S., Bao, X., De Klerk, N., Leonard, H. & Christodoulou, J., 2013, In : European Journal of Human Genetics. 21, 3, p. 266-273

Research output: Contribution to journalArticle

35 Citations (Scopus)

Using a large international sample to investigate epilepsy in Rett syndrome

Bao, X., Downs, J., Wong, K., Williams, S. & Leonard, H., 2013, In : Developmental Medicine and Child Neurology. 55, 6, p. 553-558

Research output: Contribution to journalArticle

Open Access
2014
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
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

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
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
9 Citations (Scopus)
263 Downloads (Pure)

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

Freilinger, M., Böhm, M., Lanator, I., Vergesslich-Rothschild, K., Huber, W-D., Anderson, A., Wong, K., Baikie, G., Ravikumara, M., Downs, J. & Leonard, H., Aug 2014, In : Developmental Medicine and Child Neurology. 56, 8, p. 756-762 7 p.

Research output: Contribution to journalArticle

File
8 Citations (Scopus)

Relationship between family quality of life and day occupations of young people with Down syndrome

Foley, K-R., Girdler, S., Downs, J., Jacoby, P., Bourke, J., Lennox, N., Einfeld, S., Llewellyn, G., Parmenter, T. R. & Leonard, H., Sep 2014, In : Social Psychiatry and Psychiatric Epidemiology. 49, 9, p. 1455-1465

Research output: Contribution to journalArticle

13 Citations (Scopus)
42 Citations (Scopus)

Twenty years of surveillance in Rett syndrome: what does this tell us?

Anderson, A. M., Wong, K., Jacoby, P., Downs, J. & Leonard, H., 19 Jun 2014, In : Orphanet Journal of Rare Diseases. 9, 1, p. 9pp

Research output: Contribution to journalArticle

Open Access
Rett Syndrome
Survival
Databases
Gallbladder
Biliary Dyskinesia
2015
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
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
7 Citations (Scopus)

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

Jefferson, A. L., Fyfe, S. D., Downs, J., Woodhead, H. J., Jacoby, P. & Leonard, H., May 2015, In : Bone. 74, p. 191-198

Research output: Contribution to journalArticle

Rett Syndrome
Bone Density
Bone and Bones
Spine
Menstruation
13 Citations (Scopus)

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

Downs, J., Leonard, H., Jacoby, P., Brisco, L., Baikie, G. & Hill, K., 2015, In : Disability and Rehabilitation. Online, p. 1-5

Research output: Contribution to journalArticle

10 Citations (Scopus)

Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiences

Marr, C., Leonard, H., Torode, I. & Downs, J., 26 Nov 2015, In : Child: Care, Health and Development. 41, 6, p. 1000-1009 10 p.

Research output: Contribution to journalArticle

Rett Syndrome
Spinal Fusion
Nuclear Family
Motor Skills
Scoliosis
25 Citations (Scopus)

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Fehr, S., Leonard, H., Ho, G., Williams, S., De Klerk, N., Forbes, D., Christodoulou, J. & Downs, J., 5 Jan 2015, In : Journal of Neurodevelopmental Disorders. 7, 2, p. 1-13

Research output: Contribution to journalArticle

Open Access
Mutation
Genotype
Walking
Running
Databases
33 Citations (Scopus)

The trajectories of sleep disturbances in Rett syndrome

Wong, K., Leonard, H., Jacoby, P., Ellaway, C. & Downs, J., Apr 2015, In : Journal of Sleep Research. 24, p. 223-233

Research output: Contribution to journalArticle

Open Access
Rett Syndrome
Sleep
Mutation
Risk Reduction Behavior
Therapeutics
2016
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
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
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
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
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
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
1 Citation (Scopus)
188 Downloads (Pure)
Open Access
File
Clinical Ethics
Rett Syndrome
Comorbidity
Scoliosis
Beneficence
17 Citations (Scopus)

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

Rett Syndrome
Aptitude
Nuclear Family
Parents
Communication
29 Citations (Scopus)

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

Rett Syndrome
Comorbidity
Scoliosis
Databases
Epilepsy
2 Citations (Scopus)

Propulsion strategy in the gait of primary school children; the effect of age and speed

Lye, J., Parkinson, S., Diamond, N., Downs, J. & Morris, S., 2016, In : Human Movement Science. 50, p. 54-61

Research output: Contribution to journalArticle

Gait
Walking
Running
Ankle
Hip
6 Citations (Scopus)
Rett Syndrome
Quality of Life
Scoliosis
Comorbidity
Communication