Jennepher Downs

Dr

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

    6009 Perth

    Australia

  • 1094 Citations
  • 18 h-Index
20092021
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Research Output 2009 2019

Filter
Article
2019
Open Access
Information Storage and Retrieval
Premature Birth
Term Birth
Growth
Population

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
Mothers
Parturition
Intellectual Disability
Communication
Autism Spectrum Disorder

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

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
1 Citation (Scopus)
Developmental Disabilities
Disabled Children
Mothers
Cerebral Palsy
Intellectual Disability
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

Intellectual Disability
Disabled Persons
Incidence
Research Design
Cohort Studies
1 Citation (Scopus)
Rett Syndrome
Nervous System Diseases
Sleep
Parents
Single Parent
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

Linear Models
International Classification of Functioning, Disability and Health
Morbidity
Duchenne Muscular Dystrophy
Health

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

Wheelchairs
Duchenne Muscular Dystrophy
Muscle Weakness
Equipment and Supplies
Health
3 Citations (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

Psychometrics
Quality of Life
Intellectual Disability
Equipment and Supplies
Leisure Activities
1 Citation (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

Epilepsy
Natural History
Consensus
Cyclin-Dependent Kinase 5
Clinical Trials

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

Incidence
Parturition
Cardiovascular Abnormalities
Rett Syndrome
Phenotype
Rett Syndrome
Quality of Life
Health
Caregivers
Social Welfare

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

infant
Behavioral Symptoms
Systems Biology
Attention Deficit Disorder with Hyperactivity
Neurosciences
2018
3 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
2 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

Rett Syndrome
Interpersonal Relations
Gestures
Language
Surgical Instruments
2 Citations (Scopus)
Rett Syndrome
Inborn Genetic Diseases
Down Syndrome
Intellectual Disability
Brain Diseases
8 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)

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
1 Citation (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
1 Citation (Scopus)
Open Access
Intellectual Disability
Observational Studies
Cohort Studies
Disabled Persons
Research Ethics Committees

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
Rett Syndrome
Oral Health
Retrospective Studies
Bruxism
Incidence
1 Citation (Scopus)

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

Down Syndrome
Quality of Life
Proxy
Social Support
Psychology
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

Rett Syndrome
Observational Studies
Respiratory Tract Infections
Walking
Morbidity
1 Citation (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

Rett Syndrome
Sleep
Sleep Initiation and Maintenance Disorders
Mutation
Linear Models
3 Citations (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

Vagus Nerve Stimulation
Epilepsy
Seizures
Therapeutics
Brain Diseases
2017
2 Citations (Scopus)
174 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
9 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
4 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
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
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
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
2 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

Rett Syndrome
Observation
Caregivers
Linear Models
4 Citations (Scopus)
125 Downloads (Pure)

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
Quality of Life
Fathers
Intellectual Disability
Population
Parents
2 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

Rett Syndrome
Exercise
Population
Linear Models
Health
8 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

Down Syndrome
Quality of Life
Health
Caregivers
Emotions
11 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

Rett Syndrome
Walking
Exercise
Scoliosis
Linear Models
12 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

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
16 Citations (Scopus)
171 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)
18 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
13 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)
157 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
28 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