Principal Research Fellow
MBChB MPH
Areas of research expertise: Child disability; intellectual disability; autism spectrum disorders; Down syndrome; Rett syndrome; CDKL5 disorder; MECP2 Duplication syndrome; rare diseases; pre-term
Helen has qualifications in medicine and public health. She is a Principal Research Fellow at the Institute, Associate Professor at The University of Western Australia and has been awarded a second NHMRC Senior Research Fellowship.
For twenty years her clinical practice primarily involved the management of children and adults with intellectual disability. Working in this role she saw the major need for epidemiological, clinical and multidisciplinary research in this area. Consequently, she established a population-based intellectual disability database in Western Australia, which, with its linkage to other WA population-based databases, is providing extremely valuable ongoing research output. She is also a member of an exciting and innovative autism registry collaboration, which was established with funding from the NIH as a “virtual and global” Autism Centre of Excellence and which has the infrastructure to undertake pooled analyses of international data comprising over 2.5 million births and nearly 34,000 cases of autism.
In 1992 she set up the internationally unique population-based Australian Rett Syndrome Database and has maintained this register since that time. In 2002 she established the International Rett Syndrome Foundation Phenotype Database, InterRett and in 2012 the International CDKL5 Disorder Database.
Helen’s research has mainly centered around child disability but has been broad in scope covering both common and rare conditions and using rigorous epidemiological methods including cohort studies to describe prevalence, incidence, life expectancy and natural history as well as qualitative methods, where applicable, to explore impacts for those affected and their families. She also has an interest in perinatal epidemiology, initially developed because of the association between perinatal factors and the developmental outcomes of the offspring but now expanded to include topics such as preterm birth, stillbirth and interpregnancy intervals, all of which have been investigated using population-based linked data. Her program of research and output remain on an upward trajectory with 286 publications since 1998, including 188 since 2008 and 41 since early 2017. Her articles are well cited (e.g. total citations 6459 with 848 in 2016 (Scopus)) with an h-index of 42.
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Projects
The Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.
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Publications
September 2015
Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring
This study adds to existing evidence that the rate of pre-existing psychiatric disorders in mothers of children with autism spectrum disorder is higher than...
Autism Spectrum Disorders Published research Academic Biostatistics Intellectual Disability Child DisabilitySeptember 2015The relationship between maternal psychiatric disorder, autism spectrum disorder and intellectual disability in the child: a composite picture
Research conducted by this laboratory has previously published four papers examining the relationship between maternal psychiatric disorders and having a...
Autism Spectrum Disorders Published research Academic Biostatistics Intellectual Disability Child DisabilityJuly 2015Changes in caesarean delivery rates in Western Australia from 1995 to 2010 by gestational age at birth
The objective of this paper was to measure changes in caesarean delivery rates for primiparous women in Western Australia during 1995–2010 stratified by...
Published research Academic Biostatistics 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 DisabilityJuly 2015Maternal mental health and risk of child protection involvement: Mental health diagnoses associated with increased risk
This WA data linkage study aims to assess whether maternal mental health problems are associated with worse child development outcomes, children’s safety and...
Published research Child DisabilityJuly 2015Health of mothers of children with intellectual disability or autism spectrum disorder: a review of the literature
The deficits associated with intellectual disability (ID) and autism spectrum disorder (ASD)place a burden on their co-residing families which may impact...
Autism Spectrum Disorders Published research Academic Biostatistics Intellectual Disability 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 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 DisabilityJanuary 2015Association of gestational age at birth with reasons for subsequent hospitalisation: 18 Years of follow-up in a Western Australian population study
Preterm infants are at a higher risk of hospitalisation following discharge from the hospital after birth.
Published research Child DisabilityMay 2015Patterns of depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndrome
People with intellectual disabilities are at a higher risk for experiencing behavioral, emotional, and psychiatric problems in comparison with the general...
Published research Academic Biostatistics Depression and Anxiety Intellectual Disability Child DisabilityMay 2015The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison
The objective of this study is to compare the time trend of reported diagnoses of autism spectrum disorder, hyperkinetic disorder, Tourette's syndrome, and...
Autism Spectrum Disorders Published research ADHD 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 DisabilityFebruary 2015Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort study
Mothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers.
Published research Academic Biostatistics Intellectual Disability Child DisabilityFebruary 2015Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort study
Mothers of a child with autism spectrum disorder have more psychiatric disorders after the birth of their child.
Autism Spectrum Disorders Published research Academic Biostatistics Intellectual Disability Child DisabilityMay 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 disabilityApril 2023Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia
To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.
Published research Human Development and Community Wellbeing Child Disability Computational Biology 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 healthJuly 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 disabilityJuly 2023Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience
Siblings of children with intellectual disability have unique family experiences, varying by type of disability.
Published research Aboriginal Health & Wellbeing Rett Syndrome Child Disability Child disabilityMarch 2023Intellectual disabilities and autism among children with congenital heart defects, Western Australia, 1983–2010
Children with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs.
Autism Spectrum Disorders Published research Child Disability Child disabilityMarch 2023Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study
Understanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia.
Published research Child Disability Child disabilityJanuary 2023Australian children living with rare diseases: health service use and barriers to accessing care
Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.
Published research Child Disability Child disabilityJanuary 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 2014Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorder
Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers.
Autism Spectrum Disorders Published research Academic Biostatistics Intellectual Disability 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 DisabilityNovember 2014Hospital admissions and gestational age at birth: 18 Years of follow up in Western Australia
This effect of gestational age on rehospitalisation for infants born preterm is highest in the first year post-discharge, but almost disappeared by adolescence
Published research Child DisabilityOctober 2014Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome
In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience...
Published research Intellectual Disability Child DisabilitySeptember 2014Influence of the environment on participation in social roles for young adults with down syndrome
The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and...
Published research Intellectual Disability 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 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 2014Experiences Impacting the Quality of Life of Mothers of Children With Autism and Intellectual Disability
Mothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.
Autism Spectrum Disorders Published research 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: Conversations with parent-Carers of young women with Rett syndrome
In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...
Published research Rett Syndrome Intellectual Disability 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 2014Health conditions and their impact among adolescents and young adults with down syndrome
The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the...
Published research Intellectual Disability 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 DisabilityNovember 2013“I have a good life”: the meaning of well-being from the perspective of young adults with Down syndrome
The purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers...
Published research Intellectual Disability Child DisabilityNovember 2013Pubertal trajectory in females with Rett syndrome: A population-based study
The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome.
Published research Rett Syndrome 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 DisabilityAugust 2013Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth
This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.
Published research Intellectual Disability Child DisabilityAugust 2013Changes in risk factors for preterm birth in Western Australia 1984-2006
Marked increases in maternal age and primiparous births were observed. A four-fold increase in the rates of pre-existing medical complications over time...
Published research Academic Biostatistics 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 DisabilityJune 2013The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life
The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
Published research Rett Syndrome Intellectual Disability Child DisabilityMay 2013Neonatal complications in public and private patients: A retrospective cohort study
Despite the rates of low Apgar scores being higher in public patients, the rates of special care admission were lower.
Published research Academic Biostatistics Child DisabilityMay 2013Trends in pre-existing mental health disorders among parents of infants born in Western Australia from 1990 to 2005
From 1990 to 2005, there was an increase in prevalence of parents with a prior history of mental health disorders in WA.
Published research Child DisabilityMay 2013Role of public and private funding in the rising caesarean section rate: A cohort study
Our results indicate that an increase in the prelabour caesarean delivery rate for private patients in private hospitals has been driving the increase in the...
Published research Academic Biostatistics 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 DisabilityApril 2013The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and Trends
iCARE provides a unique, unprecedented resource in autism research that will significantly enhance the ability to detect environmental and genetic...
Autism Spectrum Disorders Published research Intellectual Disability Child DisabilityApril 2013Pre-existing differences in mothers of children with Autism Spectrum disorder and/or intellectual disability: A review
The aim of this study is to review research on the pre-existing characteristics which differentiate mothers of children with ASD and/or ID of unknown cause...
Autism Spectrum Disorders Published research Intellectual Disability Child DisabilityMarch 2013Dental admissions in children under two years - A total-population investigation
This paper describes dental and oral cavity admissions and associated factors in children under two years of age using total-population databases.
Published research 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 2013Hospitalisation rates for children with intellectual disability or autism born in Western Australia 1983-1999: A population-based cohort study
ID and/or ASD were found to be associated with an increased risk of hospitalisation compared with the remainder of the population.
Autism Spectrum Disorders Published research Academic Biostatistics Intellectual Disability Child DisabilityFebruary 2013Neonatal outcomes after preterm birth by mothers' health insurance status at birth: a retrospective cohort study
Publicly insured women usually have a different demographic background to privately insured women, which is related to poor neonatal outcomes after birth.
Published research 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 2013Early development and regression in Rett syndrome
Our findings provide additional insight into the early clinical profile of Rett syndrome.
Autism Spectrum Disorders Published research Rett Syndrome Child DisabilityJanuary 2013Functioning and post-school transition outcomes for young people with Down syndrome
Our analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found...
Published research Academic Biostatistics Intellectual Disability Child DisabilityJanuary 2013Maternal Conditions and Perinatal Characteristics Associated with Autism Spectrum Disorder and Intellectual Disability
Findings show that indicators of a poor intrauterine environment are associated with an elevated risk of ID, while for ASD, and particularly ASD without ID,...
Autism Spectrum Disorders Published research Intellectual Disability 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 DisabilityJanuary 2013Application of Population-Based Linked Data to the Study of Intellectual Disability and Autism
Data linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population.
Autism Spectrum Disorders Published research Intellectual Disability Alcohol and Pregnancy and FASD Research Child DisabilityDecember 2012What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
Published research Rett Syndrome Child DisabilityOctober 2012Family functioning in families with a child with Down syndrome: A mixed methods approach
This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design.
Published research Intellectual Disability 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 DisabilityApril 2012Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach
Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach...
Published research Intellectual Disability Child DisabilityApril 2012Young adults with intellectual disability transitioning from school to post-school: A literature review framed within the ICF
The purpose of this review was to describe literature relating to transition for young people with an intellectual disability and identify knowledge base gaps.
Published research Intellectual Disability Child DisabilityMarch 2012It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndrome
The purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome.
Published research Intellectual Disability Child DisabilityMarch 2012Intellectual disability: Population-based estimates of the proportion attributable to maternal alcohol use disorder during pregnancy
The aim of this study was to examine the association between maternal alcohol use disorder and intellectual disability in children.
Fetal Alcohol Spectrum Disorder (FASD) Published research Intellectual Disability Alcohol and Pregnancy and FASD Research Child DisabilityFebruary 2012To Feel Belonged: The Voices of Children and Youth with Disabilities on the Meaning of Wellbeing
The aim of this paper was to describe the meaning of wellbeing for children and youth with disabilities from their perspective.
Autism Spectrum Disorders Cerebral Palsy Published research Intellectual Disability Child Disability Youth HealthJanuary 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 2012It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndrome
The purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome and to explore spirituality.
Published research Intellectual Disability 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 DisabilityDecember 2011Total population investigation of dental hospitalizations in Indigenous children under five years in Western Australia using linked data
The aim of this study was to compare dental hospital admissions in a total state birth population of Indigenous and non-Indigenous children aged under five...
Published research Aboriginal Health Child DisabilityDecember 2011Leisure participation for school-aged children with Down syndrome
Leisure participation for school-aged children with Down syndrome.
Published research Intellectual Disability 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 DisabilityJuly 2011The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population
This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...
Published research Academic Biostatistics Rett Syndrome Alcohol and Pregnancy and FASD Research Child DisabilityApril 2011Bone mineral content and density in Rett syndrome and their contributing factors
This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort...
Published research Academic Biostatistics Rett Syndrome Child DisabilityApril 2011Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome
This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors
Published research Rett Syndrome Alcohol and Pregnancy and FASD Research 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 DisabilityMarch 2011Autism and intellectual disability are differentially related to sociodemographic background at birth
We used population data on Western Australian singletons born from 1984 to 1999 (n = 398,353) to examine the sociodemographic characteristics of children...
Autism Spectrum Disorders Published research Academic Biostatistics Intellectual Disability Alcohol and Pregnancy and FASD Research Child Disability Autism ResearchFebruary 2011A comparison of autism prevalence trends in Denmark and Western Australia
Prevalence statistics for autism spectrum disorders (ASD) vary widely across geographical boundaries. Some variation can be explained by diagnostic methods...
Autism Spectrum Disorders Published research Academic Biostatistics Alcohol and Pregnancy and FASD Research Child DisabilityFebruary 2011Variation over time in medical conditions and health service utilization of children with Down syndrome
Variation over time in medical conditions and health service utilization of children with Down syndrome.
Published research Academic Biostatistics Intellectual Disability Child DisabilityJanuary 2011The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: A population-based study
It is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing...
Published research Alcohol and Pregnancy and FASD Research Child DisabilityJanuary 2011Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome
This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic...
Published research Rett Syndrome Alcohol and Pregnancy and FASD Research Child DisabilityDecember 2010Rett Syndrome: Revised diagnostic criteria and nomenclature
The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.
Published research Rett Syndrome Child DisabilityNovember 2010Monitoring child abuse and neglect at a population level: patterns of hospital admissions for maltreatment and assault
To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children;
Published research Child DisabilityNovember 2010The use of cross-jurisdictional population data to investigate health indicators of child maltreatment
To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children
Published research Child DisabilityOctober 2010Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett syndrome Database
Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal
Published research Academic Biostatistics 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 DisabilityOctober 2010Unpacking the complex nature of the autism epidemic
The etiology of autism spectrum disorders is unknown but there are claims of increasing prevalence in many countries.
Autism Spectrum Disorders Published research Alcohol and Pregnancy and FASD Research 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 DisabilityJune 2010Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatment
To investigate specific child and parental factors associated with increased vulnerability to substantiated child maltreatment.
Published research 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 DisabilityApril 2010Updating the profile of C-terminal MECP2 deletions in Rett syndrome
This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
Published research Academic Biostatistics Rett Syndrome Child DisabilityMarch 2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
Published research Child DisabilityFebruary 2010Unpacking the complex nature of the autism epidemic
This paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social influences.
Autism Spectrum Disorders Published research Alcohol and Pregnancy and FASD Research Child Disability Autism ResearchFebruary 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 DisabilityJanuary 2010Hip displacement and scoliosis in Rett syndrome - screening is required
The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management
Published research Rett Syndrome Child DisabilityJanuary 2010Overview of health issues in school-aged children with Down Syndrome
Overview of Health Issues in School-aged Children with Down Syndrome
Published research Intellectual Disability 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 DisabilityJuly 2009The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome
Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
Published research Academic Biostatistics 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 DisabilityFebruary 2009InterRett, a model for international data collection in a rare genetic disorder
This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...
Published research Rett Syndrome Child DisabilityJanuary 2009Siblings of children with disabilities: challenges and opportunities
Siblings of children with disabilities: challenges and opportunities
Published research Child DisabilityDecember 2008Rare childhood diseases: how should we respond?
Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...
Published research Child DisabilitySeptember 2008Physical and mental health in mothers of children with Down syndrome.
Physical and mental health in mothers of children with Down syndrome.
Published research Academic Biostatistics Intellectual Disability Alcohol and Pregnancy and FASD Research Child DisabilityAugust 2008The impact of having a sibling with an intellectual disability:parental perspectives in two disorders
This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.
Published research Rett Syndrome Intellectual Disability Alcohol and Pregnancy and FASD Research 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 DisabilityJune 2008The diagnosis of autism in a female: could it be Rett syndrome?
The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...
Published research Academic Biostatistics Rett Syndrome Child DisabilityMarch 2008Investigating genotype-phenotype relationships in Rett syndrome using an international data set
This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
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 DisabilityNovember 2007Sleep problems in Rett syndrome
Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.
Published research Academic Biostatistics Rett Syndrome Child DisabilityNovember 2007Feeding experiences and growth status in a Rett syndrome population
Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...
Published research 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 DisabilitySeptember 2007Seizures in Rett syndrome: an overview from a one-year calendar study
Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
Published research Academic Biostatistics Rett Syndrome Child DisabilityAugust 2007Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband
Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
Published research Rett Syndrome Child DisabilityFebruary 2007Correlation between clinical severity in patients with Rett syndrome
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.
Published research Academic Biostatistics Rett Syndrome Child DisabilityOctober 2006Physical and mental health of mothers caring for a child with Rett syndrome
This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
Published research Academic Biostatistics Rett Syndrome Alcohol and Pregnancy and FASD Research Child DisabilityOctober 2006Predictors of seizure onset in Rett syndrome
Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...
Published research Academic Biostatistics Rett Syndrome Alcohol and Pregnancy and FASD Research Child DisabilitySeptember 2006Predictors of scoliosis in Rett syndrome
Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.
Published research Academic Biostatistics Rett Syndrome Child DisabilityJuly 2006Early progressive encephalopathy in boys and MECP2 mutations
MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Published research Rett Syndrome Child DisabilityJune 2006Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2
Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
Published research Rett Syndrome Child DisabilityApril 2006NTNG1 mutations are a rare cause of Rett syndrome
A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
Published research Rett Syndrome Child DisabilityMarch 2006The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database
This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
Published research Academic Biostatistics Rett Syndrome Child DisabilityMarch 2006Rett syndrome in Australia: a review of the epidemiology
To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).
Published research Academic Biostatistics Rett Syndrome Alcohol and Pregnancy and FASD Research 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 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 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 disabilityMarch 2022Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study
Accurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data.
Published research Child Disability Computational Biology Child disabilityFebruary 2022Child protection involvement of children of mothers with intellectual disability
Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.
Published research Child Disability Child disabilityFebruary 2022Child protection involvement of children of mothers with intellectual disability
Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.
Published research Child Disability Child disabilityFebruary 2022Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study
To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database.
Published research Child Disability Computational Biology Respiratory Environmental Health 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 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 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 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 studyOctober 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 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 Disorders Published research Child Disability Autism Research Subsite: CliniKids 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 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 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 disabilityJune 2022Dental procedures in children with or without intellectual disability and autism spectrum disorder in a hospital setting
This population-based cohort study investigated dental procedures in the hospital setting in Western Australian children with or without intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years.
Autism Spectrum Disorders 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 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 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 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 DisabilityJanuary 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 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 Disorders Published research Academic Biostatistics Child Disability Autism ResearchJanuary 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 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 2021Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study
We aimed to describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors).
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 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 2021Optimal interpregnancy interval in autism spectrum disorder: A multi-national study of a modifiable risk factor
It is biologically plausible that risk of autism spectrum disorder (ASD) is elevated by both short and long interpregnancy intervals (IPI). We conducted a retrospective cohort study of singleton, non-nulliparous live births.
Autism Spectrum Disorders Published research Child DisabilityAugust 2021Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia
To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia.
Published research Child DisabilityJune 2021Factors associated with dental hospitalisations in children with intellectual disability or autism spectrum disorder: a Western Australian population-based retrospective cohort study
This study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years.
Autism Spectrum Disorders Published research 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 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 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 Disorders Published research Academic Biostatistics Child Disability Autism Research Subsite: CliniKidsMay 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 disabilityApril 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: CliniKidsDecember 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 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 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 DisabilitySeptember 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 DisabilityApril 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 DisabilityApril 2020Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-being
For mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing
Published research Academic Biostatistics Intellectual Disability Child DisabilityMarch 2020Stillbirth risk prediction using machine learning for a large cohort of births from Western Australia, 1980–2015
Almost half of stillbirths could be potentially identified antenatally based on a combination of factors
Published research Aboriginal Health & Wellbeing 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 Disorders Published research Alcohol and Pregnancy and FASD Research Child Disability Autism ResearchFebruary 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 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 HealthMarch 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 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 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 DisabilityDecember 2019Predicting Long-Term Survival Without Major Disability for Infants Born Preterm
Apgar score, birth weight, sex, socioeconomic status, and maternal ethnicity, in addition to gestational age, have pronounced impacts on disability-free survival.
Published research Aboriginal Health & Wellbeing Child DisabilityFebruary 2019Apgar score and risk of autism
This study suggests that low Apgar score is associated with higher risk of autism spectrum disorder, and in particular autistic disorder
Autism Spectrum Disorders Published research 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 Disorders Cerebral Palsy Published research Academic Biostatistics Intellectual Disability Alcohol and Pregnancy and FASD Research Child DisabilityJanuary 2019A Population-Based Matched-Sibling Analysis Estimating the Associations Between First Interpregnancy Interval and Birth Outcomes
Interpregnancy intervals of <6 months were associated with increased odds of preterm birth in second-born infants
Published research Academic Biostatistics 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 Disorders Published research Child Disability Autism ResearchJanuary 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 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 EpidemiologyOctober 2019Assessing the quality, efficiency and usefulness of the Western Australian population-based Intellectual Disability Exploring Answers (IDEA) surveillance system
The IDEA system is a valuable resource to address the needs of people living with intellectual disability
Published research Intellectual Disability Child DisabilitySeptember 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 Disorders Published research Child DisabilitySeptember 2019Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study
The present estimates of relative recurrence risks for autism spectrum disorder and childhood autism will assist clinicians and families in understanding autism risk
Autism Spectrum Disorders Published research Child DisabilitySeptember 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 DisabilityAugust 2019Birth seasonality and risk of autism spectrum disorder
In the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden
Autism Spectrum Disorders Published research Child DisabilityAugust 2019Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review
Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience
Published research Child DisabilityJuly 2019Association of Genetic and Environmental Factors with Autism in a 5-Country Cohort
Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%
Autism Spectrum Disorders 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 2019Association between interpregnancy interval and adverse birth outcomes in women with a previous stillbirth: an international cohort study
Conception within 12 months of a stillbirth was common and was not associated with increased risk of adverse outcomes in the subsequent pregnancy
Published research Child DisabilityApril 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 DisabilityDecember 2018Intellectual disability in children conceived using assisted reproductive technology
The risk of intellectual disability was increased in children born after assisted reproductive technology in Western Australia from 1994 to 2002
Published research Intellectual Disability Child Disability Assisted Reproductive Technologies Child EpidemiologyNovember 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 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 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 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 2018An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome
Quality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships
Published research 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 DisabilityFebruary 2018Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study
People with intellectual disability were more likely to experience potentially preventable conditions at the end of their lives
Published research Intellectual Disability Child DisabilityJanuary 2018Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western Australia
To investigate how well intellectual disability (ID) can be ascertained using hospital morbidity data compared with a population-based data source.
Published research Intellectual Disability 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 DisabilityJanuary 2018We examined the impact of introducing a dedicated team to OPAT, to define the role of increased medical oversight in improving patient outcomes in this cohort.
To evaluate the risk of stillbirth, PTB, and SGA as a proxy for FGR following exposure to one or more of these factors in a previous birth.
Published research Child DisabilityJanuary 2018Risk of stillbirth, preterm delivery, and fetal growth restriction following exposure in a previous birth: Systematic review and meta-analysis
Nonrecurrent risk of stillbirth, Preterm birth, and small for gestational age after exposure to one or more of these complications in a previous pregnancy
Published research Child DisabilityJanuary 2018Risk and protective factors for the health of primary care-givers of children with autism spectrum disorders or ID: a narrative review
We aimed to review original research which described factors impacting the health of primary care-givers of children with Autism or Intellectual Disability
Autism Spectrum Disorders 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
January 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 2017Maternal Race-Ethnicity, Immigrant Status, Country of Birth, and the Odds of a Child With Autism
In this study, we used 134 204 mother population to examine the odds of ASD with intellectual disability in children from 1994 to 2005 with these features
Published research 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 DisabilityMarch 2017Feasibility of assessing diet with a mobile food record for adolescents and young adults with down syndrome
The aim was to assess the feasibility of assessing diet with an image-based mobile food record application in 51 adolescents and young adults with Down syndrome.
Published research Intellectual Disability Nutrition Child Disability Youth HealthApril 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 2017Maltreatment risk among children with disabilities
Supports are needed for families with children with disabilities to assist in meeting the child's health and developmental needs, but also to support the parents in managing the often more complex parenting environment.
Published research Alcohol and Pregnancy and FASD Research Child DisabilityApril 2017Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays
Parents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals
Published research 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 DisabilityApril 2017Caesarean section and risk of autism across gestational age: a multi-national cohort study of 5 million births
The positive association between caesarean section (CS) and autism spectrum disorder (ASD) may be attributed to preterm delivery.
Autism Spectrum Disorders 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 ObesityAugust 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 DisabilitySeptember 2017Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia
To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.
Published research Intellectual Disability Child DisabilitySeptember 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 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 DisabilityOctober 2017Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome
We aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteristitics.
Published research Rett Syndrome 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 2017Risk of Mortality into Adulthood According to Gestational Age at Birth
To quantify the independent risks of neonatal, postneonatal, 1 to 5 and 6 to 30 year mortality by gestational age and investigate changes in survival over time.
Published research Child DisabilityNovember 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 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 DisabilityDecember 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 2016Twenty-five-year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010
Long-term survival was lower for Aboriginal children with congenital heart defects
Published research Aboriginal Health Alcohol and Pregnancy and FASD Research 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 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 DisabilitySeptember 2016Health care utilization and costs for children and adults with duchenne muscular dystrophy
The annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood
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 DisabilitySeptember 2016Mothers of Children with Autism have Different Rates of Cancer According to the Presence of Intellectual Disability in Their Child
Mothers of children with autism without ID had increased risk of cancer, which may relate to common genetic pathways
Autism Spectrum Disorders Published research Academic Biostatistics Child Disability Autism ResearchAugust 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 DisabilityAugust 2016Association of gestational age and growth measures at birth with infection-related admissions to hospital throughout childhood
Children who were born with reduced gestational age, birthweight, and birth length have persistently increased rates of infection-related admissions to hospital until age 18 years
Published research Academic Biostatistics Infectious Diseases Infectious Diseases Epidemiology Computational BiologyJuly 2016Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without down syndrome
Changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood
Published research Intellectual Disability Child DisabilityJune 2016Health care utilization and costs for children and adults with duchenne muscular dystrophy
Annual economic cost of Duchenne Muscular Dystrophy was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood
Published research Child DisabilityMay 2016Population-based prevalence of intellectual disability and autism spectrum disorders in Western Australia
The prevalence of intellectual disability has risen in WA over the last 10 years with most of this increase due to mild or moderate intellectual disability
Autism Spectrum Disorders Published research Academic Biostatistics Intellectual Disability 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 DisabilityMay 2016Autism risk associated with parental age and with increasing difference in age between the parents
Increases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age
Autism Spectrum Disorders Published research Child Disability Computational BiologyMarch 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 ResearchMarch 2016Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability
Mothers of children with autism spectrum disorder or intellectual disability have higher rates of treatment episodes for psychiatric disorders
Autism Spectrum Disorders Published research Academic Biostatistics Intellectual Disability Child DisabilityFebruary 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 DisabilityFebruary 2016Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent Decades
Improved survival for children born with Down syndrome over the last 60 years has occurred incrementally, but disparities still exist
Published research Intellectual Disability 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 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 Disability -
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