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Articles by Jenny Downs
An Audit of Research Funding for Intellectual Disability Health in Australia
1 Background Individuals with intellectual disability experience significant health inequities across the life course. Compared with the general population, they have substantially higher rates of physical and mental health conditions, greater multimorbidity and markedly reduced life expectancy (van Schrojenstein Lantman-De Valk et al. 2000; Kinnear et al. 2018; Trollor et al. 2017). In Australia, approximately 2% of the population live with an intellectual disability (Bourke et al. 2024).
Effectiveness and Cost-Effectiveness of Models of Healthcare for People With Intellectual Disability in Australia: A Scoping Review
1 Introduction People with intellectual disability experience poor health outcomes compared with the general population. For example, they are at risk of poorer physical health issues such as epilepsy and vision and hearing impairments (Liao et al. 2021) and are twice as likely to have a psychiatric disorder and experience a threefold prevalence of serious mental illness compared with the general population (Arnold et al. 2025).
Real‐world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study
BIQ Behavioral Improvement Questionnaire CGI-I Clinical Global Impression-Improvement QI-Disability Quality of Life Inventory-Disability QoL quality of life RSBQ Rett Syndrome Behaviour Questionnaire RTT Rett syndrome Trofinetide was associated with improvements in the behavioral domains associated with Rett syndrome. Trofinetide was associated with modest improvements in patients' quality of life. Normal stools were common; diarrhea was mostly contained inside the patient's diaper.
Caregiver‐reported meaningful change in functional domains for individuals with developmental and epileptic encephalopathy: A convergent mixed‐methods design
CFCS Communication Function Classification System COA clinical outcome assessment DEE developmental and epileptic encephalopathy EDACS Eating and Drinking Ability Classification System What this paper adds Some meaningful change codes for communication were similar across levels of impairment. Most meaningful change codes were unique for specific gross motor levels of impairment. Meaningful change was anticipated to support health, independence, safety, care, and well-being.
Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis
1 Introduction Rett syndrome (RTT) (Rett 1966) is a rare neurodevelopmental disorder that affects approximately 1:9000 females at birth (Fehr et al. 2011) and is caused by a mutation in the MECP2 gene on the X-chromosome (Amir et al. 1999). The gene encoding MECP2 maps to the Xq28, and it is inherited in an X-linked dominant manner, although 99% of cases arise out of de novo mutations (Kaur and Christodoulou 2001). Although RTT is also known to occur very rarely in males (Kankirawatana et al.
Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent Perspectives
Data Availability Statement The data are not publicly available as per the requirements of the Research Data Confidentiality Policy, The Kids Research Institute Australia, and the ethics requirements that govern the database.
The NDIS at ten years: designing an equitable scheme for the next decade
Med J Aust 2024; 220 (1): 54-54.
Prevalence of attention deficit hyperactivity disorder/hyperkinetic disorder of pediatric and adult populations in clinical settings: a systematic review, meta-analysis and meta-regression | Molecular Psychiatry
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Abstract Attention-Deficit/Hyperactivity Disorder (ADHD)/Hyperkinetic Disorder (HD) is linked to increased risks of morbidity, comorbidity and mortality, with higher prevalence in clinical populations. The differential prevalence of ADHD/HD across adult and pediatric clinical populations, influenced by factors such as time trends, sex, age, geographic regions, and comorbidities, has not been systematically assessed.
By Simon Johnson Verified, Eric Lim, Stephen V. Faraone, Benjamin Su, Marco Solmi, Jenny Downs, Kiri von Klier
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Nature
Verified
How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome
Open AccessArticle by 1,2, 2,3, 1, 2,4 and 2,* 1 School of Human Sciences, University of Western Australia, Perth 6009, Australia 2 Telethon Kids Institute, Centre for Child Health Research, University of Western Australia, Perth 6872, Australia 3 School of Medicine, University of Western Australia, Perth 6009, Australia 4 Curtin School of Allied Health, Curtin University, Perth 6845, Australia * Author to whom correspondence should be addressed.
Evaluation Tools Developed for Rett Syndrome
Open AccessOpinion by Meir Lotan 1,2, Jenny Downs 3,4, Michelle Stahlhut 5 and Alberto Romano 6,* 1 Department of Physiotherapy, Ariel University, Ariel 4070000, Israel 2 Israeli Rett Syndrome National Evaluation Team, Ramat Gan 5211401, Israel 3 Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, Nedlands, WA 6009, Australia 4 School of Allied Health, Curtin University, Perth, WA 6102, Australia 5 Department of Paediatrics and Adolescent Medicine,...
Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial
DISCUSSION This study evaluated the effects of a telehealth-supported, goal-directed, physical activity programme for individuals with RTT, delivered in their natural environments. The direction of change in primary outcome variables between baseline and post-test favoured the intervention group. They were 2.7% less sedentary and walked on average 265 steps per day more, whereas the control group was 1.3% more sedentary and walked only 105 steps per day more.
“What about us?”‐ the drawbacks of current bruxism assessment criteria in evaluating vulnerable groups
Corresponding Author Yvonne Y. L. Lai The University of Queensland School of Dentistry, UQ Oral Health Centre, Herston, Queensland, Australia Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia Correspondence Yvonne Y. L. Lai, Child Disability, Telethon Kids Institute, Level 6E, Perth Children's Hospital, PO Box 855, West Perth, Western Australia, 6872, Australia.
CDKL5 deficiency disorder: clinical features, diagnosis, and management
1. Tao J Van Esch H Hagedorn-Greiwe M et al. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet. 2004; 75: 1149-1154 2. Weaving LS Christodoulou J Williamson SL et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet. 2004; 75: 1079-1093 3. Devinsky O Verducci C Thiele EA et al.
Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome
Objective To investigate the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age and walking ability. Study design Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database (ARSD).
Caregiver-mediated interventions to support self-regulation among infants and young children (0-5 years): a protocol for a realist review
Caregiver-mediated interventions to support self-regulation among infants and young children (0–5 years): a protocol for a realist review http://orcid.org/0000-0002-1336-4001Amy Finlay-Jones1,2, Jetro Emanel Ang1, http://orcid.org/0000-0002-4448-169XElaine Bennett3,4, http://orcid.org/0000-0001-7358-9037Jenny Downs5,6, http://orcid.org/0000-0002-2507-0350Sally Kendall7, http://orcid.org/0000-0002-3637-304XKeerthi Kottampally1,8, Sheila Krogh-Jespersen9,10,...
Terrain.org Launches Monthly Reading Series: Janisse Ray, Arthur Sze, Jane Hirshfield, J. Drew Lanham and Others
Terrain.org kicks off its new, monthly reading series on Monday, February 22, at 5 p.m. PT (6 MT, 7 CT, 8 ET). The online series, which will be held on the fourth Monday of each month, will feature recent Terrain.org contributors as well as contributors from months and years past. Generally, each reading will feature three readers, though we’ll make exceptions for special events.
The Cats and Dogs Who Eat Cats and Dogs
Pets, like humans, don’t expect the call of the wild to arrive in their faces. Last summer, Kiwi the house cat, a one-year-old, all-black, adventurous female, made the unfortunate decision of crossing the road. An inside-outside feline, Kiwi probably knew to look both ways over the asphalt because she made it intact to the other side, as she had many times before in suburban Denton, Texas.
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
Publication HistoryPublished online: June 22, 2018Accepted: April 20, 2018; Received in revised form: April 11, 2018; Received: December 5, 2017;
Respiratory morbidity in Rett syndrome: an observational study
Respiratory illness is a major cause of morbidity and mortality in Rett syndrome. This study investigated respiratory morbidity and relationships with age, mutation type, feeding, and walking status. Families registered with the InterRett database (n=399) provided data on the health of their child with Rett syndrome (age 2–57y).
Parent-reported health-related quality of life of children with Down syndrome: a descriptive study
To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data. A cross-sectional survey was conducted with parents of 75 children and adolescents (43 males, 32 females) with Down syndrome aged 5 to 18 years (mean age 13y 2mo, SD 4y 8mo). The proxy-report KIDSCREEN-27 questionnaire was administered and five dimensions of health-related quality of life were measured.
What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analyses
Publication HistoryPublished online: October 19, 2017Accepted: October 10, 2017; Received in revised form: August 30, 2017; Received: March 13, 2017;
Clinical and biological progress over 50 years in Rett syndrome
In the 50 years since Andreas Rett first described the syndrome that came to bear his name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, a compelling blend of astute clinical observations and clinical and laboratory research has substantially enhanced our understanding of this rare disorder.
Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome
To quantify, in individuals with Rett syndrome with the capacity to walk, walking-based activity and sedentary time, and to analyse the influences of age, walking ability, scoliosis, and the severity of epilepsy. Sixty-four participants with a mean age of 17 years and 7 months (standard deviation [SD] 9y) were recruited from the Australian Rett Syndrome Database for this cross-sectional study. Each participant wore a StepWatch Activity Monitor for at least 4 days.
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