Jenny Downs
Dados Biográficos
| ID | 232935 |
|---|---|
| NOME | Jenny Downs |
| PRENOMES | Jenny |
| SOBRENOME | Downs |
| ASSINATURA | DOWNS J |
| AFILIAÇÕES | The Kids Research Institute Australia |
| ORCID | 0000-0003-4847-7118 |
| VERIFICADO | Sim |
| TOTAL DE OBRAS | 18 |
| TOTAL DE CITAÇÕES | 0 |
| TOTAL COMO AUTOR | 18 |
| TOTAL COMO EDITOR | 0 |
| PRIMEIRO ANO DE PUBLICAÇÃO | 2018 |
| ANO MAIS RECENTE DE PUBLICAÇÃO | 2026 |
| ÍNDICE H | 0 |
Applying adaptive research methods to explore health literacy in young people with intellectual disability
Young people with intellectual disability experience higher risks for chronic health conditions than their peers. Improving their health literacy could be a strengths-based approach for reducing these risks. However, there is limited research that explores the perspectives of young people with intellectual disability on their health literacy. Given the limited research centring on the voice of young people with intellectual disability, this study…
Addressing the challenges of intellectual disability identification for health policy and research in Australia
This article discusses the important issue of the need for a stable definition of intellectual disability in order to allow comparisons by place and over time such as in the monitoring of this population's health needs and utilization. The aim of the new Australian National Centre for Intellectual Disability Health, established in 2023, is to ensure that all Australian children and adults with intellectual disability receive high-quality healthca…
From QI-disability to QID-12
Quality of Life Disability (QI-Disability) is a 32-item parent-report measure assessing quality of life (QOL) in children with intellectual disability across domains of physical health, positive emotions, negative emotions, social interactions, leisure and outdoors, and independence. This study aimed to develop and validate a short form for use in clinical and research settings. Caregivers of 1,699 children with intellectual disability aged 3–18 …
Caregiver-reported quality of life in individuals with developmental and epileptic encephalopathy and other severe neurodevelopmental encephalopathies
Regression tree analysis suggests that cognition and use of touchscreens were important factors for QOL. Findings suggest small neurodevelopmental and functional gains may meaningfully improve quality of life for individuals with severe neurodevelopmental encephalopathy
The impact of child self‐regulation difficulties on parents
The capacity for children to self‐regulate is an important developmental task of early childhood, with caregivers playing an integral role in self‐regulation development. While caregivers’ emotions and behaviors are known to impact child self‐regulatory capacity, the impact of child self‐regulation difficulties on parents is less understood. This study explored parents’ experience of child self‐regulation difficulties using semi‐structured qualit…
The United Nations convention on rare diseases—A framework for research prioritization
Collectively, rare diseases (RD) are estimated to affect 3.5-5.9% of the population, equating to approximately 263-446 million persons globally (1). Despite their diversity and prevalence, persons living with rare diseases (PLWRD) face many common challenges, such as lack of awareness across medical and general communities, diagnostic challenges, a poor evidence base for treatment, and difficulties achieving adequate healthcare (2).On 16 December…
What I Wish I Had Known
BACKGROUND: Appropriate support for the health of children with an intellectual disability by parents and healthcare professionals is pivotal, given the high risk of chronic conditions. However, there is limited research that has collected important insights from parents on their learnings for supporting their child's evolving healthcare needs. AIM: This study focuses on parents' experiences and learnings from managing and supporting the health o…
Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder
Meaningful improvement means different things to different people with some factors consistent regardless of ability level suggesting important underlying concepts for measurement requiring future investigation. These findings can contribute to the development of clinical treatments and trials that focus on factors that are important to people with CDD and their families
Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disability
Existing rights frameworks and healthcare standards confirm the importance of providing all people with the opportunities to learn and practise health literacy skills including decision making. There is little literature examining interventions for healthcare decision making for children with intellectual disability. Childhood is a critical time for the development of skills and autonomy. Evidence for how children and adolescents with intellectua…
Using Focussed Ethnography to Observe and Understand the Actions and Interactions of People With Prader-Willi Syndrome When They Exercise at a Community Gym
Exercise for people with Prader-Willi syndrome (PWS) is important for their health and wellbeing and can provide opportunities for community participation. However, they may find it difficult to participate in some contexts, such as community gyms because social and environmental barriers in these settings may compound difficulties caused by physical impairments or intellectual disability. This study aims to observe and understand the actions and…
How Families Manage the Complex Medical Needs of Their Children with Mecp2 Duplication Syndrome
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 ( MECP2 ) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizur…
What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy
Meaningful change thresholds have not been evaluated in the DEE literature. This study was a preliminary qualitative approach to inform future studies that will aim to determine quantitative values of change, applicable to groups and within-person, to inform interpretation of specific clinical outcome assessments in individuals with a DEE
Medical Comorbidities in Mecp2 Duplication Syndrome
Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). We report a higher frequency of pneumonia, bronchitis, bronchiolitis,…
Development of an International Database for a Rare Genetic Disorder
The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products. This clinical…
Unraveling the Optimum Latent Structure of Attention-Deficit/Hyperactivity Disorder
Attention Deficit/hyperactivity disorder (ADHD) is conceptualized differently in the Diagnostic and Statistical Manual (DSM-5), the International Classification of Diseases-10 (ICD-10), and the Hierarchical Taxonomy of Psychopathology (HiTOP) frameworks. This study applied independent cluster confirmatory factor analysis (ICM-CFA), exploratory structure equation model with target rotation (ESEM), and the S-1 bi-factor CFA approaches to evaluate s…
The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distress
Facilitators and Barriers of Participation in "Uptime" Activities in Girls and Women With Rett Syndrome
Rett syndrome (RTT) is a rare neurodevelopmental disorder usually affecting females. It is associated with intellectual and multiple disabilities leading to a high level of dependency in all aspects of daily living including participation in physical activities. This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with RTT as perceived by parents and professionals using focus groups. Throu…
Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure
Sem obras proeminentes nesta página.
Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure
Facilitators and Barriers of Participation in "Uptime" Activities in Girls and Women With Rett Syndrome
Rett syndrome (RTT) is a rare neurodevelopmental disorder usually affecting females. It is associated with intellectual and multiple disabilities leading to a high level of dependency in all aspects of daily living including participation in physical activities. This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with RTT as perceived by parents and professionals using focus groups. Throu…
Unraveling the Optimum Latent Structure of Attention-Deficit/Hyperactivity Disorder
Attention Deficit/hyperactivity disorder (ADHD) is conceptualized differently in the Diagnostic and Statistical Manual (DSM-5), the International Classification of Diseases-10 (ICD-10), and the Hierarchical Taxonomy of Psychopathology (HiTOP) frameworks. This study applied independent cluster confirmatory factor analysis (ICM-CFA), exploratory structure equation model with target rotation (ESEM), and the S-1 bi-factor CFA approaches to evaluate s…
The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distress
Medical Comorbidities in Mecp2 Duplication Syndrome
Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). We report a higher frequency of pneumonia, bronchitis, bronchiolitis,…
Development of an International Database for a Rare Genetic Disorder
The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products. This clinical…
How Families Manage the Complex Medical Needs of Their Children with Mecp2 Duplication Syndrome
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 ( MECP2 ) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizur…
What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy
Meaningful change thresholds have not been evaluated in the DEE literature. This study was a preliminary qualitative approach to inform future studies that will aim to determine quantitative values of change, applicable to groups and within-person, to inform interpretation of specific clinical outcome assessments in individuals with a DEE
Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disability
Existing rights frameworks and healthcare standards confirm the importance of providing all people with the opportunities to learn and practise health literacy skills including decision making. There is little literature examining interventions for healthcare decision making for children with intellectual disability. Childhood is a critical time for the development of skills and autonomy. Evidence for how children and adolescents with intellectua…
Using Focussed Ethnography to Observe and Understand the Actions and Interactions of People With Prader-Willi Syndrome When They Exercise at a Community Gym
Exercise for people with Prader-Willi syndrome (PWS) is important for their health and wellbeing and can provide opportunities for community participation. However, they may find it difficult to participate in some contexts, such as community gyms because social and environmental barriers in these settings may compound difficulties caused by physical impairments or intellectual disability. This study aims to observe and understand the actions and…
The United Nations convention on rare diseases—A framework for research prioritization
Collectively, rare diseases (RD) are estimated to affect 3.5-5.9% of the population, equating to approximately 263-446 million persons globally (1). Despite their diversity and prevalence, persons living with rare diseases (PLWRD) face many common challenges, such as lack of awareness across medical and general communities, diagnostic challenges, a poor evidence base for treatment, and difficulties achieving adequate healthcare (2).On 16 December…
What I Wish I Had Known
BACKGROUND: Appropriate support for the health of children with an intellectual disability by parents and healthcare professionals is pivotal, given the high risk of chronic conditions. However, there is limited research that has collected important insights from parents on their learnings for supporting their child's evolving healthcare needs. AIM: This study focuses on parents' experiences and learnings from managing and supporting the health o…
Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder
Meaningful improvement means different things to different people with some factors consistent regardless of ability level suggesting important underlying concepts for measurement requiring future investigation. These findings can contribute to the development of clinical treatments and trials that focus on factors that are important to people with CDD and their families
Applying adaptive research methods to explore health literacy in young people with intellectual disability
Young people with intellectual disability experience higher risks for chronic health conditions than their peers. Improving their health literacy could be a strengths-based approach for reducing these risks. However, there is limited research that explores the perspectives of young people with intellectual disability on their health literacy. Given the limited research centring on the voice of young people with intellectual disability, this study…
Addressing the challenges of intellectual disability identification for health policy and research in Australia
This article discusses the important issue of the need for a stable definition of intellectual disability in order to allow comparisons by place and over time such as in the monitoring of this population's health needs and utilization. The aim of the new Australian National Centre for Intellectual Disability Health, established in 2023, is to ensure that all Australian children and adults with intellectual disability receive high-quality healthca…
From QI-disability to QID-12
Quality of Life Disability (QI-Disability) is a 32-item parent-report measure assessing quality of life (QOL) in children with intellectual disability across domains of physical health, positive emotions, negative emotions, social interactions, leisure and outdoors, and independence. This study aimed to develop and validate a short form for use in clinical and research settings. Caregivers of 1,699 children with intellectual disability aged 3–18 …
Caregiver-reported quality of life in individuals with developmental and epileptic encephalopathy and other severe neurodevelopmental encephalopathies
Regression tree analysis suggests that cognition and use of touchscreens were important factors for QOL. Findings suggest small neurodevelopmental and functional gains may meaningfully improve quality of life for individuals with severe neurodevelopmental encephalopathy
The impact of child self‐regulation difficulties on parents
The capacity for children to self‐regulate is an important developmental task of early childhood, with caregivers playing an integral role in self‐regulation development. While caregivers’ emotions and behaviors are known to impact child self‐regulatory capacity, the impact of child self‐regulation difficulties on parents is less understood. This study explored parents’ experience of child self‐regulation difficulties using semi‐structured qualit…
Medicine (10 obras) · Intellectual disability (9 obras) · Psychiatry (8 obras) · Psychology (8 obras) · Family and Disability Support Research (7 obras) · Genetics and Neurodevelopmental Disorders (7 obras) · Health care (5 obras) · Public health (5 obras) · Quality of life (healthcare (5 obras) · Quality of Life Research (5 obras)