Head, Child Disability
BApplSci (physio) MSc PhD
Areas of research expertise: Child disability; Rett syndrome; MECP2-related disorders; Duchenne muscular dystrophy; CDKL5; Prader-Willi syndrome; rare disorders; functional abilities; comorbidities; early development; comprehensive outcomes frameworks; quality of life
Dr Jenny Downs has worked at the Telethon Kids Institute since 2005 and has a clinical background in paediatric physiotherapy. She works towards improving our understanding about childhood disability and outcomes for affected children and their families.
Her current research program is in child disability with a focus on rare disorders. These include Rett syndrome, the CDKL5 disorder, MECP2 Duplication syndrome and Prader-Willi syndrome, as well as Duchenne muscular dystrophy and Early Onset Scoliosis. There is typically little knowledge about the trajectory of rare disorders and how clinical issues should best be managed. Jenny has used cohort, observational and qualitative study designs to progress these research fields and her expertise in these rare disorders is being recognised internationally.
Jenny is particularly interested in comprehensive outcomes research for children and their families. She uses database methodologies for data collection, works with consumers to develop meaningful research programs and aims for the translation of research findings into clinical practice. Her current NHMRC funded studies illustrate these interests. One study is developing a quality of life measure for children with intellectual disability and the other is investigating comprehensive outcomes following gastrostomy for children with moderate to severe intellectual disability. She has played a lead role in developing outcome measures for gross motor and hand function in Rett syndrome. More generally, she is interested in gross motor development and physical activity over childhood.
Jenny represents the Telethon Kids Institute on the PCH Ethics Committee and is a Board member of Kalparrin, an organisation providing support to families with a child with a disability.
Jenny co-leads the Think Big Neurodevelopmental Disorders at the Telethon Kids Institute, together with Dr Amy Finlay-Jones. This program focuses on understanding neurodevelopmental risk and resilience in the first years of life and optimising developmental and mental health outcomes across the lifespan.” To develop this innovative and ambitious research program, Jenny and Amy are working with researchers from Telethon Kids’ Disability, FASD and Autism teams and collaborators to establish “ASCEND”: AuStralian Collaboration to Enhance Neuro-Development.
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Projects
We hope that through earlier diagnosis and treatment of muscle weakness during sleep, we can prevent future lung failure in children with neuromuscular disorders.
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Publications
March 2024
Psychometric Properties of the EQ-5D-Y-5L for Children With Intellectual Disability
The EQ-5D-Y-5L is a generic preference-based measure of health-related quality of life for children. This study aimed to describe the distributional properties, test-retest reliability, and convergent validity of the EQ-5D-Y-5L in children with intellectual disability (ID).
Published research Child Disability Early Neurodevelopment and Mental Health Child disabilityFebruary 2024Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study
CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.
Published research Language Development Child Disability Child disabilityJanuary 2024Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study
Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.
Published research Rett Syndrome Child Disability Child disabilityDecember 2023Interobserver Agreement When Diagnosing Hypoventilation in Children With Neuromuscular Disorders
Neuromuscular disorders can lead to nocturnal hypoventilation. Accurate diagnosis of hypoventilation is imperative to guide treatment decisions. This study determined interobserver agreement for a number of definitions of nocturnal hypoventilation in children and adolescents with neuromuscular disorders.
Child Disability Children's Lung Health Subsite: Walyan BREATH Child disabilityJanuary 2024FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies
Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.
Published research Child Disability Child disabilityDecember 2023How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: “There's a Lot More to My Child Than That She Can't Wash or Dress Herself.”
The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy report version of the EQ-5D-Y-5L as seen by their caregivers.
Cerebral Palsy Published research Child Disability Child disabilityDecember 2023What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy
There are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures, and no data to describe meaningful change. This study aimed to explore parent perceptions of important differences in functional abilities that would guide their participation in clinical trials.
Published research Child Disability Child disabilityNovember 2023A Co-Designed Online Education Resource on Gastrostomy Feeding for Parents and Caregivers to Support Clinical Care
Children with complex needs and severe disability may undergo gastrostomy insertion to support feeding difficulties. Parent education programs are critical components of clinical care pathways but there is little information on parent-reported educational needs. This study describes the collaborative process that yielded a resource to assist parents considering gastrostomy tube placement for their children, and the evaluation of the resource.
Published research Nutrition Child Disability Child disabilityOctober 2023Growth patterns in individuals with CDKL5 deficiency disorder
Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.
Published research Child Disability Child disabilitySeptember 2023The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder
CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity.
Published research Child Disability Child disabilityJuly 2023How 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 seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
Published research Child Disability Child disabilityMay 2023Evaluation Tools Developed for Rett Syndrome
Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.
Published research Rett Syndrome Child Disability Child disabilityApril 2023Genotype and sleep independently predict mental health in Rett syndrome: An observational study
Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.
Published research Rett Syndrome Child Disability Child disability Mental healthMay 2023Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure
Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets.
Published research Rett Syndrome Child Disability Child disabilityMay 2023Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder
CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist.
Published research Child Disability Child disabilityMarch 2023A Comparison of Inertial Measurement Units and Overnight Videography to Assess Sleep Biomechanics
The assessment of sleep biomechanics (comprising movement and position during sleep) is of interest in a wide variety of clinical and research settings. However, there is no standard method by which sleep biomechanics are measured. This study aimed to (1) compare the intra- and inter-rater reliability of the current clinical standard, manually coded overnight videography, and (2) compare sleep position recorded using overnight videography to sleep position recorded using the XSENS DOT wearable sensor platform.
Published research Child DisabilityJanuary 2023Can Wearable Inertial Measurement Units Be Used to Measure Sleep Biomechanics? Establishing Initial Feasibility and Validity
Wearable motion sensors, specifically, Inertial Measurement Units, are useful tools for the assessment of orientation and movement during sleep. The DOTs platform (Xsens, Enschede, The Netherlands) has shown promise for this purpose. This pilot study aimed to assess its feasibility and validity for recording sleep biomechanics.
Published research Child Disability Child disabilitySeptember 2022Modelling quality of life in children with intellectual disability using regression trees
To identify factors associated with quality of life (QoL) in children with intellectual disability. We aimed to identify patterns of association not observable in previous hypothesis-driven regression modelling using the same data set from a cross-sectional observational study.
Autism Spectrum Published research Child Disability Autism Research Subsite: CliniKids Child disabilityMarch 2023Associations between the human immune system and gut microbiome with neurodevelopment in the first 5 years of life: A systematic scoping review
The aim of this review was to map the literature assessing associations between maternal or infant immune or gut microbiome biomarkers and child neurodevelopmental outcomes within the first 5 years of life. We conducted a PRISMA-ScR compliant review of peer-reviewed, English-language journal articles.
Published research Human Development and Community Wellbeing Child Disability Pregnancy and Early Life Immunology Subsite: ORIGINS Project Early Neurodevelopment and Mental HealthJanuary 2023Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials
CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD).
Published research Child Disability Child disabilityDecember 2022Improving the Journey Before, During and After Diagnosis of a Neurodevelopmental Condition: Suggestions from a Sample of Australian Consumers and Professionals
The current study used a transdiagnostic approach to explore experiences of consumers and professionals on how the process of assessing and diagnosing neurodevelopmental conditions can be improved.
Published research Human Development and Community Wellbeing Child Disability Autism Research Youth Mental Health Subsite: CliniKids Early Neurodevelopment and Mental Health Youth mental healthOctober 2022Factors influencing participation in home, school, and community settings by children and adolescents with neuromuscular disorders: A qualitative descriptive study
This study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation.
Published research Early Childhood Development Child Disability Children's Lung HealthOctober 2022Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial
To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.
Published research Rett Syndrome Child Disability Child disabilityOctober 2022Charting developmental trajectories from 12 to 36 months and associated early risk and protective factors
To investigate developmental trajectories in early childhood and predictors of class assignment.
Published research Breastfeeding Early Childhood Development Child Disability Early Neurodevelopment and Mental Health Raine studySeptember 2022Employing cognitive interviewing to evaluate, improve and validate items for measuring the health-related quality of life of women diagnosed with ovarian cancer
Use of patient-reported outcome measures in clinical settings facilitate the delivery of better health care to improve patient health outcomes.
Published research Child DisabilityAugust 2022A systematic review of the biological, social, and environmental determinants of intellectual disability in children and adolescents
This systematic review aimed to identify the most important social, environmental, biological, and/or genetic risk factors for intellectual disability.
Published research Alcohol and Pregnancy and FASD Research Child Disability Autism Research Subsite: CliniKids Early Neurodevelopment and Mental Health Child disabilityJuly 2022Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)
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.
Child Disability Vaccine Trials Group Children's Lung Health Subsite: Wesfarmers Centre of Vaccines and Infectious Diseases Child disabilityAugust 2022Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder
This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database.
Published research Child Disability Child disabilityOctober 2022Quality of life beyond diagnosis in intellectual disability – Latent profiling
To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.
Published research Child Disability Subsite: CliniKids Child disabilityAugust 2022Enabling successful life engagement in young people with ADHD: new components beyond adult models of recovery
To examine the lived experiences of young people successfully managing life with ADHD and investigate the applicability of adult models of Recovery to these individuals.
Published research ADHD Child Disability Child disabilityAugust 2022Devising a Missing Data Rule for a Quality of Life Questionnaire - A Simulation Study
The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation.
Published research Child Disability Subsite: CliniKids Child disabilityJune 2022International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder
CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay.
Published research Child Disability Child disabilityMay 2022Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)
Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.
Published research Child Disability Child disabilityApril 2022Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database
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).
Published research Child Disability Infectious Diseases Epidemiology Computational Biology Subsite: Wesfarmers Centre of Vaccines and Infectious Diseases Child disabilityJune 2022CDKL5 deficiency disorder: clinical features, diagnosis, and management
CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
Published research Rett Syndrome Child Disability Child disabilityApril 2022Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder
Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.
Published research Child Disability Child disabilityMarch 2022Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome
Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep.
Published research Child Disability Children's Lung Health Child disabilityMarch 2022A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
Published research Child Disability Vaccine Trials Group Children's Lung Health Subsite: Wesfarmers Centre of Vaccines and Infectious Diseases Child disabilityFebruary 2022Modifiable child and caregiver factors that influence community participation among children with Down syndrome
To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.
Published research Child Disability Subsite: CliniKids Child disabilityMarch 2022Enablers and barriers in dental attendance in Rett syndrome: an international observational study
Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety.
Published research Rett Syndrome Child Disability Child disabilityMay 2021Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study
To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.
Published research Rett Syndrome Child Disability Child disabilityFebruary 2022The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child
CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods.
Published research Child Disability Child disabilityMarch 2022Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome
Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials.
Published research Rett Syndrome Child Disability Child disabilityFebruary 2021Women Diagnosed with Ovarian Cancer: Patient and Carer Experiences and Perspectives
By directly engaging with women diagnosed with ovarian cancer, this study aimed to explore and identify their view of the health symptoms and outcomes that matter most to them as they traverse their disease pathway.
Published research Child DisabilityJanuary 2022Strengths and challenging behaviors in children and adolescents with Prader-Willi syndrome: Two sides to the coin
Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described.
Published research Child Disability Child disabilityNovember 2021Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder
The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up.
Published research Child Disability Child disabilityOctober 2021Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome
People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities.
Published research Child Disability Child disabilitySeptember 2021Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study
Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being.
Published research Academic Biostatistics Child Disability Airway Epithelial Research P4 Respiratory Health for KidsSeptember 2021Determinants of quality of life in Rett syndrome: New findings on associations with genotype
Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.
Published research Rett Syndrome Child DisabilityAugust 2021Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy
In children with Prader-Willi syndrome (PWS), growth hormone (GH) improves height and body composition; however, may be associated with worsening sleep-disordered breathing (SDB). Some studies have reported less SDB after GH initiation, but follow-up with polysomnography is still advised in most clinical guidelines.
Published research Academic Biostatistics Child Disability P4 Respiratory Health for KidsAugust 2021Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder
CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains.
Published research Child DisabilityAugust 2021The Rett Syndrome Gross Motor Scale–Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett Syndrome
The Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability.
Published research Rett Syndrome Child DisabilityJune 2021Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome
We investigated 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.
Published research Rett Syndrome Child DisabilityJune 2021The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder
CDKL5 Deficiency Disorder (CDD) is a severe treatment-resistant form of early-onset epilepsy. Current treatment options are often ineffective and associated with adverse effects, forcing families to seek alternative therapies for their children including products derived from cannabis. Reportsof miraculous cures and a public preferencefor 'natural' therapies have resulted in considerable public interest, and so this study aimed to characterize the use of cannabis in these individuals, as well as compare caregiver perceptions of efficacy and safety to objective evidence of seizure control and number of antiepileptic drugs used.
Published research Child DisabilityJune 2021Caregiver-mediated interventions to support self-regulation among infants and young children (0-5 years): A protocol for a realist review
Self-regulation is a modifiable protective factor for lifespan mental and physical health outcomes. Early caregiver-mediated interventions to promote infant and child regulatory outcomes prevent long-term developmental, emotional and behavioural difficulties and improve outcomes such as school readiness, educational achievement and economic success. To harness the population health promise of these programmes, there is a need for more nuanced understanding of the impact of these interventions.
Published research Early Childhood Development Child Disability Youth Health Youth Mental Health Early Neurodevelopment and Mental HealthMay 2021Unraveling the Optimum Latent Structure of Attention-Deficit/Hyperactivity Disorder: Evidence Supporting ICD and HiTOP Frameworks
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 seven ADHD models yielded by different combinations of these taxonomic frameworks.
Published research ADHD Child DisabilityMay 2021Determinants of sleep problems in children with intellectual disability
Children with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities.
Published research Child Disability P4 Respiratory Health for KidsMay 2021The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distress
The measurement of quality of life (QOL) in children with intellectual disability often relies upon proxy report via caregivers. The current study investigated whether caregiver psychological distress mediates or moderates the effects of impairment on their ratings of QOL in children with intellectual disability.
Autism Spectrum Published research Academic Biostatistics Child Disability Autism Research Subsite: CliniKidsMay 2021Parent Carer Quality of Life and Night-Time Attendance in Non-Ambulant Youth with Neuromuscular Disorders
To describe and explore carer quality of life and night-time attendance to their child in parents of non-ambulant youth with Neuromuscular Disorders. A cross-sectional population-based, comprehensive survey including the Adult Carer questionnaire, measures of social context and youths' physical status. Associations between carer-QoL or frequency of parents' night-time attendance with independent variables were explored using linear and logistic regression models, respectively.
Published research Child Disability Children's Lung HealthApril 2021Comorbidities and quality of life in children with intellectual disability
Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met.
Published research Academic Biostatistics Child Disability Subsite: Autism & Related Disorders Subsite: CliniKidsApril 2021A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 Lockdown
Rett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary.
Published research Child DisabilityMarch 2021Oral health care and service utilisation in individuals with Rett syndrome: an international cross-sectional study
There is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care.
Published research Rett Syndrome Child DisabilityFebruary 2021Early motor function of children with autism spectrum disorder: A systematic review
Early motor impairments have been reported in children with neurodevelopmental disorders (NDD), but it is not clear if early detection of motor impairments can identify children at risk for NDD or how early such impairments might be detected. Our aim was to characterize early motor function in children later diagnosed with NDD relative to typically developing children or normative data.
Autism Spectrum Published research Early Childhood Development Child Disability Autism Research Youth Mental Health Developmental Coordination DisorderMarch 2021Using a trauma informed practice framework to enhance understanding of and identify support strategies for behavioural difficulties in young people with Prader-Willi syndrome
Behavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings. To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework.
Published research Early Childhood Development Child DisabilityJanuary 2021Functioning, participation, and quality of life in children with intellectual disability: an observational study
To investigate associations between functioning, community participation, and quality of life (QoL) and identify whether participation mediates the effects of functioning on QoL.
Autism Spectrum Published research Academic Biostatistics Child Disability Autism ResearchJanuary 2021Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset
Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.
Published research Early Childhood Development Child DisabilityJanuary 2021Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder
CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.
Published research Child DisabilityDecember 2020Implementing telehealth support to increase physical activity in girls and women with Rett syndrome-ActivRett: protocol for a waitlist randomised controlled trial
Individuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT.
Published research Rett Syndrome Child DisabilityDecember 2020Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome
Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.
Published research Rett Syndrome Child DisabilityNovember 2020Oral health education and promotion in special needs children: Systematic review and meta-analysis
To review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions.
Published research Intellectual Disability Child DisabilityOctober 2020Comparing Web-Based Mindfulness With Loving-Kindness and Compassion Training for Promoting Well-Being in Pregnancy: Protocol for a Three-Arm Pilot Randomized Controlled Trial
Promoting psychological well-being and preventing distress among pregnant women is an important public health goal. In addition to adversely impacting the mother's health and well-being, psychological distress in pregnancy increases the risk of poor pregnancy outcomes, compromises infant socioemotional development and bonding, and heightens maternal and child vulnerability in the postpartum period. Mindfulness and compassion-based interventions show potential for prevention and early intervention for perinatal distress.
Published research Child Disability ORIGINS Youth Mental HealthSeptember 2020The development of a consensus statement for the prescription of powered wheelchair standing devices in Duchenne muscular dystrophy
PURPOSE: To develop a consensus statement for the prescription of a Powered Wheelchair Standing Device (PWSD) in young people with Duchenne muscular dystrophy (DMD). MATERIALS AND METHODS: An international multidisciplinary panel comprising clinicians and users (young people with DMD) along with their parents was consulted. A literature review was undertaken and a Delphi method was utilised to generate consensus statements.
Published research Early Childhood Development Child Disability Airway Epithelial ResearchSeptember 2020Systematic Review and Meta-analysis: Mental Health in Children
The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents
Published research Intellectual Disability Child Disability Youth HealthJuly 2020Survival of children and adolescents with intellectual disability following gastrostomy insertion
Whilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time
Published research Academic Biostatistics Intellectual Disability Child DisabilityMay 2020Exploring enablers and barriers to accessing health services after a fall among people with intellectual disability
There is an urgent need to develop high-quality falls prevention services for older adults with intellectual disability
Published research Intellectual Disability Child DisabilityMarch 2020A preliminary investigation of the effects of prenatal alcohol exposure on facial morphology in children with Autism Spectrum Disorder
While early exposure to alcohol may influence the development of facial structures, it does not appear to be associated with ASD phenotypic variability
Autism Spectrum Published research Alcohol and Pregnancy and FASD Research Child Disability Autism ResearchApril 2020Hospital admissions in children with developmental disabilities from ethnic minority backgrounds
Children with CP and intellectual disability, particularly from minority backgrounds, were at higher risk of being admitted to hospital after the first year of life
Published research Academic Biostatistics Alcohol and Pregnancy and FASD Research Child DisabilityFebruary 2020Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability
Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI
Published research Intellectual Disability Child DisabilityJanuary 2020Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome
The U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome
Published research Rett Syndrome Child DisabilityJanuary 2020The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort study
Developmental assessment of infants with fetal growth restriction was mostly comparable to those born without fetal growth restriction at 12 months
Published research Child Disability Youth Mental HealthDecember 2019Incidence and associated risk factors for falls in adults with intellectual disability
People with intellectual disability fall at a younger age compared with the broader community
Published research Intellectual Disability Child DisabilityNovember 2019The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children
MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk
Published research Child DisabilityOctober 2019Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability Research
Building data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research
Published research Child Disability Child EpidemiologySeptember 2019Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study
An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed
Autism Spectrum Published research Child DisabilityOctober 2019Content validation of the Quality of Life Inventory—Disability
Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected
Published research Academic Biostatistics Child Disability Autism ResearchSeptember 2019Requirements for improving health and well-being of children with Prader-Willi syndrome and their families
Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement
Published research Child DisabilityAugust 2019Are preterm birth and intra-uterine growth restriction more common in Western Australian children of immigrant backgrounds? A population based data linkage study
Our findings illustrate the vulnerabilities of children born to foreign women from low and middle-income countries
Published research Child DisabilityAugust 2019Severity Assessment in CDKL5 Deficiency Disorder
A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.
Published research Child DisabilityJune 2019Very Early Identification and Intervention for Infants at Risk of Neurodevelopmental Disorders: A Transdiagnostic Approach
In this article, we examine the utility of a transdiagnostic, dimensional approach to very early identification and intervention for infants at risk of neurodevelopmental disorders
Published research Child Disability Autism Research Systems Immunology Youth Mental HealthApril 2019Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder
Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being
Published research Rett Syndrome Child DisabilityMarch 2019Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder
This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder
Published research Intellectual Disability Child DisabilityMarch 2019Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review
Synthesized findings demonstrate that people with intellectual disability, who live in community or residential settings, may fall more frequently, and at a younger age
Published research Intellectual Disability Child DisabilityMarch 2019The Brain Basis of Comorbidity in Neurodevelopmental Disorders
This review discusses early brain development and the etiological factors that may give rise to atypical developmental trajectories, along with neuroimaging insights
Published research Child Disability Autism Research Youth Mental HealthMarch 2019Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure
Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability
Published research Child Disability Autism ResearchMarch 2019Facilitators and Barriers of Participation in “Uptime” Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals
This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome
Published research Rett Syndrome Child DisabilityMarch 2019Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy
This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives
Published research Academic Biostatistics Human Development and Community Wellbeing Child DisabilityMarch 2019Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability
Gastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers
Published research Intellectual Disability Child DisabilityFebruary 2019A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder
This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder
Published research Child DisabilityJanuary 2019Risk of Developmental Disorders in Children of Immigrant Mothers: A Population-Based Data Linkage Evaluation
Increased risk of autism spectrum disorder with intellectual disability and cerebral palsy with intellectual disability for mothers of some foreign-born groups
Autism Spectrum Cerebral Palsy Published research Academic Biostatistics Intellectual Disability Alcohol and Pregnancy and FASD Research Child DisabilityJanuary 2019Parent-observed thematic data on quality of life in children with autism spectrum disorder
Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder
Autism Spectrum Published research Child Disability Autism ResearchJanuary 2019Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?
Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables
Published research Child DisabilityJanuary 2019Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome
High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome
Published research Rett Syndrome Child DisabilityNovember 2018Oral health experiences of individuals with Rett syndrome: A retrospective study
Social advantage may provide some protection for dental health in individuals with Rett syndrome
Published research Rett Syndrome Child DisabilityNovember 2018Impact of biobanks on research outcomes in rare diseases: a systematic review
This review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks
Published research Child DisabilityNovember 2018Evolving Trends of Gastrostomy Insertion Within a Pediatric Population
New gastrostomy insertion among children who require long-term enteral feeding support increased over the study period
Published research Child DisabilitySeptember 2018Respiratory morbidity in Rett syndrome: An observational study
Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization
Published research Rett Syndrome Child DisabilitySeptember 2018Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome
Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear
Published research Rett Syndrome Nutrition Child DisabilityJuly 2018Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care services
This study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem
Published research Intellectual Disability Child DisabilityJuly 2018Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder
Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy
Published research Intellectual Disability Child DisabilityJuly 2018Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices
Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome
Published research Rett Syndrome Child DisabilityJune 2018Addressing challenges in gaining informed consent for a research study investigating falls in people with intellectual disability
This study describes how an informed consent process was developed for people with intellectual disability and how it is working in a current study
Published research Intellectual Disability Child DisabilityJune 2018What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analyses
There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome
Published research Intellectual Disability Child DisabilityJune 2018Management of oral and dental problems in Rett syndrome: a narrative review of the literature
Review of the available dental literature on assessment and management of the oral manifestations of Rett syndrome
Published research Rett Syndrome Child DisabilityApril 2018Parent-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.
Published research Child DisabilityMarch 2018The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future Research
We investigated the literature from 2002 to 2016 describing the risk of ASD, intellectual disability and ADHD in children of refugee and immigrant backgrounds.
Published research Academic Biostatistics Child DisabilityMarch 2018Choice making in Rett syndrome: a descriptive study using video data
We describe the choice-making abilities of girls and women with Rett syndrome.
Published research Child DisabilityJanuary 2018The prevalence of mental health disorders and symptoms in children and adolescents with cerebral palsy: a systematic review and meta-analysis
Mental health conditions and problems are often reported in children and adolescents with CP. A systematic review was undertaken to describe their prevalence.
Published research Child Disability Autism ResearchJanuary 2018Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trial
We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.
Published research Academic Biostatistics Rett Syndrome Child DisabilityDecember 2017CDKL5 variants: Improving our understanding of a rare neurologic disorder
Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.
Published research Child DisabilityNovember 2017Exploring quality of life of children with cerebral palsy and intellectual disability: What are the important domains of life?
An estimated half of all children with cerebral palsy also have comorbid intellectual disability, the domains of QOL for these children are not well understood
Cerebral Palsy Published research Intellectual Disability Autism ResearchNovember 2017Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability
This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability.
Published research Intellectual Disability Child DisabilityOctober 2017Measurement of Sedentary Behaviors or "downtime" in Rett Syndrome
This study aimed to validate measures of sedentary time in individuals with Rett syndrome.
Published research Rett Syndrome Intellectual Disability Child DisabilitySeptember 2017Orthopaedic issues in Rett Syndrome
This chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT.
Published research Rett Syndrome Diabetes and ObesitySeptember 2017Motor abnormalities in Rett Syndrome
For most individuals, there is initial developmental progress followed by regression at around 6–30 months. The classic signs of RTT then become apparent.
Published research Rett Syndrome Diabetes and ObesitySeptember 2017Building the repertoire of measures of walking in Rett syndrome
This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome.
Published research Rett Syndrome Child DisabilityAugust 2017Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder
In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician.
Published research Nutrition Child DisabilityJuly 2017Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review protocol.
Our objective is to synthesize the best available evidence to determine the incidence and prevalence of falls in intellectually disabled adults in the community
Published research Child DisabilityJune 2017Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome
Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences.
Diabetes (Type 1) Published research Rett Syndrome Diabetes and ObesityMay 2017Quality of Life and Psychosocial Well-Being in Youth With Neuromuscular Disorders Who Are Wheelchair Users: A Systematic Review
To investigate quality of life (QOL) and psychosocial well-being in youth with neuromuscular disorders (NMDs) who are wheelchair users.
Published research Child DisabilityApril 2017Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study
Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.
Published research Rett Syndrome Child DisabilityApril 2017Expanding the clinical picture of the MECP2 Duplication syndrome
People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.
Published research Intellectual Disability Child DisabilityFebruary 2017Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome
We investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens.
Published research Child DisabilityJanuary 2017Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life
Investigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder
Published research Intellectual Disability Child DisabilityJanuary 2017Clinical and biological progress over 50 years in Rett syndrome
Review of the clinical and biological progress over 50 years in Rett Syndrome
December 2016Transition to adulthood for young people with intellectual disability: the experiences of their families
A number of themes emerged from the qualitative data which included parents' views and concerns about the capacity of their young adult to adapt and change to life in adulthood
Published research Intellectual Disability Child DisabilityDecember 2016Propulsion strategy in the gait of primary school children; the effect of age and speed
Ankle and hip power generation as a propulsion strategy during the late stance/early swing phases of walking and running in typically developing children
Published research Child DisabilityOctober 2016Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder
Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency
Published research Academic Biostatistics Child DisabilityNovember 2016Functional abilities in children and adults with the CDKL5 disorder
Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities
Published research Academic Biostatistics Intellectual Disability Child DisabilityOctober 2016A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular Disorders
Explored Youth with Neuromuscular Disorders perceptions of health, health behaviors and healthcare engagement
Published research Intellectual Disability Child DisabilitySeptember 2016Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype
Prevalence and determinants of sleep problems in Rett syndrome
Published research Rett Syndrome Child DisabilitySeptember 2016Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families
Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis
Published research Rett Syndrome Child DisabilityAugust 2016How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?
This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework
Published research Rett Syndrome Child DisabilityMay 2016Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.
Published research Rett Syndrome Child DisabilityMarch 2016Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods
Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome
Published research Rett Syndrome Child Disability Autism ResearchFebruary 2016Parental perspectives on the communication abilities of their daughters with Rett syndrome
How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication
Published research Rett Syndrome Child DisabilityJanuary 2016Validating the rett syndrome gross motor scale
The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials
Published research Academic Biostatistics Rett Syndrome Child DisabilityJanuary 2016Expanding the clinical picture of the MECP2 Duplication syndrome
Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome
Published research Intellectual Disability Child DisabilityJanuary 2016Family satisfaction following spinal fusion in Rett syndrome
We evaluated family satisfaction following spinal fusion in girls with Rett syndrome
Published research Rett Syndrome Child DisabilityJanuary 2016Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study
We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.
Published research Rett Syndrome Child DisabilityJanuary 2016Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence
A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome
Published research Rett Syndrome Child DisabilityJanuary 2016Parental perspectives on the communication abilities of their daughters with Rett syndrome
Perspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome
Published research Rett Syndrome Child DisabilityJuly 2015Rett syndrome: Establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders
Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion.
Published research Academic Biostatistics Rett Syndrome Child DisabilityJune 2015A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndrome
The aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...
Published research Academic Biostatistics Rett Syndrome Child DisabilityFebruary 2015Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiences
Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if...
Published research Rett Syndrome Child DisabilityJanuary 2015There is variability in the attainment of developmental milestones in the CDKL5 disorder
Individuals with the CDKL5 disorder have been described as having severely impaired development.
Published research Academic Biostatistics Child DisabilityJanuary 2015Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome
This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.
Published research Rett Syndrome Language Development Child DisabilityJanuary 2015Longitudinal bone mineral content and density in Rett syndrome and their contributing factors
Bone mass and density are low in females with Rett syndrome.
Published research Academic Biostatistics Rett Syndrome Child DisabilityDecember 2014Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders
This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome
Published research Academic Biostatistics Rett Syndrome Child DisabilityDecember 2014Experience of gastrostomy using a quality care framework: The example of rett syndrome
Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families
Published research Academic Biostatistics Rett Syndrome Child DisabilitySeptember 2014The trajectories of sleep disturbances in Rett syndrome
This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...
Published research Academic Biostatistics Rett Syndrome Child DisabilitySeptember 2014"The problem with running"-Comparing the propulsion strategy of children with Developmental Coordination Disorder and typically developing children
This study compared strategies of propulsion and power generation at the ankle during late stance/early swing in both walking and running in children with...
Published research Child DisabilityAugust 2014Parental perspectives on the communication abilities of their daughters with Rett syndrome
This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to...
Published research Rett Syndrome Intellectual Disability Child DisabilityAugust 2014Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome
This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
Published research Rett Syndrome Child DisabilityJuly 2014Community participation for girls and women living with Rett syndrome
This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
Published research Rett Syndrome Intellectual Disability Child DisabilityJune 2014Twenty years of surveillance in Rett syndrome: what does this tell us?
This study aimed to describe overall survival and adult health in those with Rett syndrome.
Published research Rett Syndrome Child DisabilityMay 2014Effect of sitting posture on development of scoliosis in duchenne muscular dystrophy cases
This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.
Published research Academic Biostatistics Child DisabilityApril 2014Family satisfaction following spinal fusion in Rett syndrome
Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...
Published research Academic Biostatistics Rett Syndrome Child DisabilityFebruary 2014Gastrointestinal dysmotility in rett syndrome
Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...
Published research Rett Syndrome Child DisabilityJanuary 2014Relationship between family quality of life and day occupations of young people with Down syndrome
This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.
Published research Intellectual Disability Child DisabilityOctober 2013Assessment and management of nutrition and growth in rett syndrome
We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...
Published research Rett Syndrome Child DisabilityJuly 2013Community participation for girls and women living with Rett syndrome
Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports.
Published research Rett Syndrome Child DisabilityJuly 2013Perspectives on hand function in girls and women with Rett syndrome
Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
Published research Rett Syndrome Child DisabilityJune 2013Using a large international sample to investigate epilepsy in Rett syndrome
The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
Published research Rett Syndrome Child DisabilityMay 2013Evaluating the Extent of Clinical Uncertainty Among Treatment Options for Patients with Early-Onset Scoliosis
The objective of this study was to evaluate areas of clinical uncertainty among pediatric spine surgeons regarding the treatment of early-onset scoliosis.
Published research Child DisabilityApril 2013Resourceful and creative methods are necessary to research rare disorders
Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...
Published research Rett Syndrome Intellectual Disability Child DisabilityMarch 2013The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.
Published research Academic Biostatistics Rett Syndrome Child DisabilityFebruary 2013Caring for a child with severe intellectual disability in China: The example of Rett syndrome
Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...
Published research Rett Syndrome Intellectual Disability Child DisabilityJanuary 2013"The problem with running"-Comparing the propulsion strategy of children with Developmental Coordination Disorder and typically developing children
Children with Developmental Coordination Disorder (DCD) often have difficulties running.
Published research Child DisabilityJanuary 2013Early development and regression in Rett syndrome
Our findings provide additional insight into the early clinical profile of Rett syndrome.
Autism Spectrum Published research Rett Syndrome Child DisabilityJanuary 2013Approaches to study the lifelong trajectories of children with neurodevelopmental conditions
We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a...
Published research Rett Syndrome Child DisabilitySeptember 2012The phenotype associated with a large deletion on MECP2
Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
Published research Rett Syndrome Child DisabilityFebruary 2012The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study
This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.
Published research Rett Syndrome Child DisabilityJanuary 2012Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome
In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...
Published research Rett Syndrome Child DisabilityJanuary 2012The diagnostic odyssey to Rett syndrome: The experience of an Australian family
The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.
Published research Rett Syndrome Child DisabilityJanuary 2012Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families
Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.
Published research Rett Syndrome Child DisabilityOctober 2011Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period
We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database
Published research Rett Syndrome Child DisabilitySeptember 2011Trends in the diagnosis of Rett syndrome in Australia
Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...
Published research Rett Syndrome Child DisabilitySeptember 2011Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome
This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...
Published research Academic Biostatistics Rett Syndrome Child DisabilityAugust 2011Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome
This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.
Published research Rett Syndrome Child DisabilityMarch 2011Longitudinal hand function in Rett syndrome
Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating...
Published research Rett Syndrome Child DisabilityOctober 2010Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome
There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.
Published research Rett Syndrome Child DisabilityJune 2010Valproate and risk of fracture in Rett syndrome
This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
Published research Academic Biostatistics Rett Syndrome Child DisabilityMay 2010Linking MECP2 and pain sensitivity: the example of Rett syndrome
This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
Published research Academic Biostatistics Rett Syndrome Child DisabilityFebruary 2010Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database
Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.
Published research Academic Biostatistics Rett Syndrome Child DisabilityAugust 2009Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence
To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.
Published research Rett Syndrome Child DisabilityJune 2009Impact of scoliosis surgery on activities of daily living in females with Rett syndrome
Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.
Published research Academic Biostatistics Rett Syndrome Child DisabilityJune 2009Parental experiences of scoliosis management in Rett syndrome
Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...
Published research Rett Syndrome Child DisabilityAugust 2008Gross Motor Profile in Rett Syndrome as Determined by Video Analysis
This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...
Published research Academic Biostatistics Rett Syndrome Child DisabilityMarch 2008Early determinants of fractures in Rett syndrome
The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...
Published research Academic Biostatistics Rett Syndrome Child DisabilityOctober 2007Development of a video-based evaluation tool in Rett syndrome
This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
Published research Rett Syndrome Child Disability -
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